eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cardiofaciocutaneous syndrome | ||||
| Disease ID | 537 |
|---|---|
| Disease | cardiofaciocutaneous syndrome |
| Definition | A rare genetic syndrome most often caused by BRAF gene mutations. It is characterized by a distinctive facial appearance (high forehead, short nose, and widely spaced eyes), sparse and brittle hair, skin disorders, heart malformations, mental retardation and developmental delay. |
| Synonym | cardio-facio-cutaneous syndrome cardio-facio-cutaneous syndrome (disorder) cardiofaciocutaneous (cfc) syndrome cardiofaciocutaneous syndrome 1 cfc cfc syndrome cfc1 |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1275081 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0019829 | hodgkin lymphoma | 1 C0024299 | lymphoma | 1 C0013338 | growth hormone deficiency | 1 C0024305 | non-hodgkin lymphoma | 1 C0037769 | infantile spasms | 1 C0034013 | precocious puberty | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:7) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:18) 54840 | APTX | 1.947 | DISEASES 2110 | ETFDH | 2.448 | DISEASES 2731 | GLDC | 2.328 | DISEASES 152789 | JAKMIP1 | 3.379 | DISEASES 8242 | KDM5C | 2.231 | DISEASES 3980 | LIG3 | 1.284 | DISEASES 4043 | LRPAP1 | 1.893 | DISEASES 5609 | MAP2K7 | 3.758 | DISEASES 26151 | NAT9 | 1.41 | DISEASES 4763 | NF1 | 2.996 | DISEASES 23590 | PDSS1 | 2.697 | DISEASES 57107 | PDSS2 | 2.742 | DISEASES 5781 | PTPN11 | 5.566 | DISEASES 8036 | SHOC2 | 5.264 | DISEASES 6654 | SOS1 | 5.448 | DISEASES 54345 | SOX18 | 2.3 | DISEASES 10252 | SPRY1 | 1.89 | DISEASES 8831 | SYNGAP1 | 2.067 | DISEASES |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 537 |
|---|---|
| Disease | cardiofaciocutaneous syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:79) HP:0000639 | Nystagmus HP:0000028 | Cryptorchidism HP:0001263 | Global developmental delay HP:0000470 | Short neck HP:0006191 | Deep palmar crease HP:0001003 | Multiple lentigines HP:0003196 | Short nose HP:0001048 | Cavernous hemangioma HP:0001654 | Abnormality of the heart valves HP:0000545 | Myopia HP:0002213 | Fine hair HP:0004322 | Short stature HP:0002299 | Brittle hair HP:0000218 | High palate HP:0005280 | Depressed nasal bridge HP:0000767 | Pectus excavatum HP:0000974 | Hyperextensible skin HP:0000508 | Ptosis HP:0001004 | Lymphedema HP:0001260 | Dysarthria HP:0001631 | Atrial septal defect HP:0009891 | Underdeveloped supraorbital ridges HP:0007392 | Excessive wrinkled skin HP:0010669 | Cheekbone underdevelopment HP:0002007 | Frontal bossing HP:0012719 | Functional abnormality of the gastrointestinal tract HP:0000126 | Hydronephrosis HP:0002564 | Malformation of the heart and great vessels HP:0000276 | Long face HP:0000486 | Strabismus HP:0000465 | Webbed neck HP:0000316 | Hypertelorism HP:0000343 | Long philtrum HP:0001531 | Failure to thrive in infancy HP:0002167 | Neurological speech impairment HP:0100840 | Aplasia/Hypoplasia of the eyebrow HP:0001639 | Hypertrophic cardiomyopathy HP:0002120 | Cerebral cortical atrophy HP:0001642 | Pulmonic stenosis HP:0000982 | Palmoplantar keratoderma HP:0000494 | Downslanted palpebral fissures HP:0000478 | Abnormality of the eye HP:0002353 | EEG abnormality HP:0000962 | Hyperkeratosis HP:0000286 | Epicanthus HP:0008872 | Feeding difficulties in infancy HP:0000256 | Macrocephaly HP:0000293 | Full cheeks HP:0002650 | Scoliosis HP:0001622 | Premature birth HP:0008070 | Sparse hair HP:0000648 | Optic atrophy HP:0002857 | Genu valgum HP:0001249 | Intellectual disability HP:0008391 | Dystrophic fingernails HP:0002162 | Low posterior hairline HP:0011024 | Abnormality of the gastrointestinal tract HP:0000504 | Abnormality of vision HP:0000958 | Dry skin HP:0000348 | High forehead HP:0001582 | Redundant skin HP:0002967 | Cubitus valgus HP:0000463 | Anteverted nares HP:0002217 | Slow-growing hair HP:0004422 | Biparietal narrowing HP:0000400 | Macrotia HP:0000368 | Low-set, posteriorly rotated ears HP:0000280 | Coarse facial features HP:0000499 | Abnormality of the eyelashes HP:0000637 | Long palpebral fissure HP:0001252 | Muscular hypotonia HP:0007565 | Multiple cafe-au-lait spots HP:0002997 | Abnormality of the ulna HP:0000238 | Hydrocephalus HP:0007440 | Generalized hyperpigmentation HP:0000391 | Thickened helices HP:0008064 | Ichthyosis HP:0000176 | Submucous cleft hard palate HP:0200102 | Sparse or absent eyelashes |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:11) HP:0000826 | Precocious puberty | 1 HP:0002664 | Neoplasia | 1 HP:0002665 | Lymphoma | 1 HP:0030853 | Heterotaxy | 1 HP:0012469 | Infantile spasms | 1 HP:0001298 | Encephalopathy | 1 HP:0200134 | Epileptic encephalopathy | 1 HP:0001771 | Tight achilles tendon | 1 HP:0012189 | Hodgkin disease | 1 HP:0012539 | Non-Hodgkin lymphoma | 1 HP:0000824 | Growth hormone deficiency | 1 |
| Disease ID | 537 |
|---|---|
| Disease | cardiofaciocutaneous syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:42) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894229 | 17324647 | 3265 | HRAS | umls:C1275081 | BeFree | We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). | 0.121085767 | 2007 | HRAS;LRRC56 | 11 | 534289 | C | T,G,A |
| rs104894360 | 16474405 | 3845 | KRAS | umls:C1275081 | BeFree | We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome. | 0.244071628 | 2006 | KRAS | 12 | 25209904 | T | C,A |
| rs104894365 | 16474405 | 3845 | KRAS | umls:C1275081 | BeFree | We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome. | 0.244071628 | 2006 | KRAS | 12 | 25245345 | C | T |
| rs104894366 | 16474405 | 3845 | KRAS | umls:C1275081 | BeFree | We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome. | 0.244071628 | 2006 | KRAS | 12 | 25245284 | G | C,A |
| rs113488022 | 20735442 | 673 | BRAF | umls:C1275081 | BeFree | Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome. | 0.567057489 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs121908595 | 17567882 | 5604 | MAP2K1 | umls:C1275081 | BeFree | The patient died shortly thereafter and his post-mortem DNA analysis revealed a MEK1 mutation (Y130C) previously reported in CFC. | 0.244071628 | 2007 | MAP2K1 | 15 | 66436843 | A | G |
| rs121913341 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140753350 | A | T,C |
| rs121913348 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140781617 | C | T,G,A |
| rs121913355 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140781602 | C | T,G,A |
| rs121913369 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140753346 | G | C,A |
| rs121913530 | 17324647 | 3265 | HRAS | umls:C1275081 | BeFree | We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). | 0.121085767 | 2007 | KRAS | 12 | 25245351 | C | T,G,A |
| rs180177034 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140801536 | C | G |
| rs180177034 | 20523244 | 673 | BRAF | umls:C1275081 | BeFree | Sequencing analysis showed a germline p.A246P (c.736G>C) mutation in BRAF reported earlier in CFC syndrome. | 0.567057489 | 2011 | BRAF | 7 | 140801536 | C | G |
| rs180177035 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140801502 | T | C |
| rs180177036 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140778053 | C | G,A |
| rs180177037 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140778013 | T | C |
| rs180177037 | 18456719 | 673 | BRAF | umls:C1275081 | BeFree | In one patient with NS, we also identified a mutation, BRAF K499E, that has previously been reported in patients with CFC. | 0.567057489 | 2008 | BRAF | 7 | 140778013 | T | C |
| rs180177038 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140778007 | C | T,G |
| rs180177039 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140778006 | T | G,C,A |
| rs180177040 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140754187 | T | G,C |
| rs180177040 | 22876591 | 673 | BRAF | umls:C1275081 | BeFree | In this case report, we present a male CFCS patient with tight Achilles tendons with a de-novo heterozygote N581D mutation in the BRAF gene detected by DNA sequence analysis. | 0.567057489 | 2012 | BRAF | 7 | 140754187 | T | G,C |
| rs180177041 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140777006 | C | G |
| rs180177042 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140749365 | A | T,C |
| rs387906661 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140801551 | T | G |
| rs397507465 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140801542 | T | G |
| rs397507466 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140801537 | T | G,A |
| rs397507466 | 19416762 | 673 | BRAF | umls:C1275081 | BeFree | We speculate that the impact of p.L245F on BRAF protein function differs either qualitatively or quantitatively from those mutations associated with CFCS. | 0.567057489 | 2009 | BRAF | 7 | 140801537 | T | G,A |
| rs397507469 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140801503 | G | T |
| rs397507473 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140781605 | A | G |
| rs397507474 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140778061 | T | G |
| rs397507475 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140778054 | A | G |
| rs397507475 | 20395089 | 673 | BRAF | umls:C1275081 | BeFree | A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months. | 0.567057489 | 2011 | BRAF | 7 | 140778054 | A | G |
| rs397507480 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140754233 | A | C |
| rs397507483 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140753348 | C | A |
| rs397516892 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140778066 | G | T |
| rs397516893 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140778048 | A | C |
| rs397516894 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140754208 | G | A |
| rs397516895 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140753392 | A | T |
| rs397516904 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140801487 | T | G,C |
| rs397517147 | 18456719 | 6654 | SOS1 | umls:C1275081 | BeFree | The SOS1 E433K mutation, identified in a patient diagnosed with CFC, has previously been reported in patients with NS. | 0.001628651 | 2008 | SOS1 | 2 | 39023131 | C | T |
| rs730880517 | NA | 5605 | MAP2K2 | umls:C1275081 | CLINVAR | NA | 0.363257302 | NA | MAP2K2 | 19 | 4117541 | T | C |
| rs794729219 | NA | 673 | BRAF | umls:C1275081 | CLINVAR | NA | 0.567057489 | NA | BRAF | 7 | 140753352 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:33) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0001654 | Abnormality of the heart valves | MP:0008158 | increased diameter of femur | increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge |
| HP:0003196 | Short nose | MP:0002233 | abnormal nose morphology | any structural anomaly of the organ that is specialized for smell and is part of the respiratory system |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0002217 | Slow-growing hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0001048 | Cavernous hemangioma | MP:0002947 | increased hemangioma incidence | greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells, occurring in a specific population in a given time period; a cavernous hemangioma is characterized by large endothelial spaces (cave |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
| HP:0008070 | Sparse hair | MP:0010202 | focal dorsal hair loss | focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs |
| HP:0000974 | Hyperextensible skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0001639 | Hypertrophic cardiomyopathy | MP:0005330 | cardiomyopathy | diseases of the heart (myocardium); may result from many causes |
| HP:0002997 | Abnormality of the ulna | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0001642 | Pulmonic stenosis | MP:0010449 | heart right ventricle outflow tract stenosis | abnormal constriction or narrowing of part of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk |
| HP:0000504 | Abnormality of vision | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0000958 | Dry skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0001582 | Redundant skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0000499 | Abnormality of the eyelashes | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000478 | Abnormality of the eye | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001631 | Atria septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0000280 | Coarse facial features | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0007440 | Generalized hyperpigmentation | MP:0001188 | hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
| HP:0000276 | Long face | MP:0012546 | triangular face | a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia |
| HP:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0002213 | Fine hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0010669 | Hypoplasia of the zygomatic bone | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0002299 | Brittle hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0001622 | Premature birth | MP:0009703 | decreased birth body size | reduction in average body size at birth compared to controls |
| HP:0000176 | Submucous cleft hard palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
Mapped by homologous gene(Total Items:76) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002162 | Low posterior hairline | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001631 | Atria septal defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008391 | Dystrophic fingernails | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0001654 | Abnormality of the heart valves | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0000486 | Strabismus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000982 | Palmoplantar keratoderma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002353 | EEG abnormality | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000391 | Thickened helices | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0002213 | Fine hair | MP:0013897 | decreased eyelid cilium number | reduction in the number of the hairs that grow at the edge of the upper or lower eyelid |
| HP:0000463 | Anteverted nares | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000276 | Long face | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003196 | Short nose | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001004 | Lymphedema | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0002217 | Slow-growing hair | MP:0013897 | decreased eyelid cilium number | reduction in the number of the hairs that grow at the edge of the upper or lower eyelid |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000126 | Hydronephrosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000028 | Cryptorchidism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002997 | Abnormality of the ulna | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002857 | Genu valgum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0200102 | Sparse or absent eyelashes | MP:0011094 | embryonic lethality before implantation, complete penetrance | death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5) |
| HP:0001639 | Hypertrophic cardiomyopathy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007565 | Multiple cafe-au-lait spots | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0000767 | Pectus excavatum | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001263 | Global developmental delay | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0007392 | Excessive wrinkled skin | MP:0002644 | decreased circulating triglyceride level | reduced concentration of naturally occurring esters of three fatty acids and glycerol in the blood; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirection |
| HP:0000348 | High forehead | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001582 | Redundant skin | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001622 | Premature birth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001642 | Pulmonic stenosis | MP:0020040 | decreased bone ossification | decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002967 | Cubitus valgus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002299 | Brittle hair | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0008872 | Feeding difficulties in infancy | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000637 | Long palpebral fissure | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| HP:0007440 | Generalized hyperpigmentation | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000639 | Nystagmus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000494 | Downslanted palpebral fissures | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0004422 | Biparietal narrowing | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0009891 | Underdeveloped supraorbital ridges | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002167 | Neurological speech impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000280 | Coarse facial features | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000343 | Long philtrum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000368 | Low-set, posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001003 | Multiple lentigines | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0000545 | Myopia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000504 | Abnormality of vision | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0008070 | Sparse hair | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000958 | Dry skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0010669 | Hypoplasia of the zygomatic bone | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000465 | Webbed neck | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000974 | Hyperextensible skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002007 | Frontal bossing | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000293 | Full cheeks | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001048 | Cavernous hemangioma | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0000499 | Abnormality of the eyelashes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000648 | Optic atrophy | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000176 | Submucous cleft hard palate | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006191 | Deep palmar crease | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| Disease ID | 537 |
|---|---|
| Disease | cardiofaciocutaneous syndrome |
| Case | (Waiting for update.) |