eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| crouzon disease | ||||
| Disease ID | 452 |
|---|---|
| Disease | crouzon disease |
| Definition | Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia. |
| Synonym | acrocephalosyndactyly, type ii apert-crouzon syndrome craniofacial dysarthroses craniofacial dysarthrosis craniofacial dysostoses craniofacial dysostosis craniofacial dysostosis [disease/finding] craniofacial dysostosis syndrome craniofacial dysostosis syndromes crouzon syndrome crouzon syndrome (disorder) crouzon's disease crouzon's syndrome crouzons disease crouzons syndrome dysarthroses, craniofacial dysarthrosis, craniofacial dysostoses, craniofacial dysostosis, craniofacial syndrome craniofacial dysostosis syndrome crouzon's trigorhinophalangeal dysplasia vogt cephalosyndactyly |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0010273 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:14) C0000889 | acanthosis nigricans | 10 C0010278 | craniosynostosis | 2 C0020255 | hydrocephalus | 2 C0033845 | pseudotumor cerebri | 1 C0018818 | ventricular septal defect | 1 C0085436 | cryptococcal meningitis | 1 C0151740 | increased intracranial pressure | 1 C0020555 | hypertrichosis | 1 C0038379 | strabismus | 1 C0029124 | optic nerve atrophy | 1 C0010964 | dandy-walker malformation | 1 C0520679 | obstructive sleep apnea | 1 C0015310 | exotropia | 1 C0037315 | sleep apnea | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:31) 84890 | ADO | 1.499 | DISEASES 257 | ALX3 | 4.006 | DISEASES 633 | BGN | 2.793 | DISEASES 2972 | BRF1 | 2.648 | DISEASES 10203 | CALCRL | 1.811 | DISEASES 55636 | CHD7 | 1.333 | DISEASES 1123 | CHN1 | 1.551 | DISEASES 1280 | COL2A1 | 1.014 | DISEASES 2246 | FGF1 | 2.473 | DISEASES 2258 | FGF13 | 3.519 | DISEASES 2248 | FGF3 | 1.706 | DISEASES 2253 | FGF8 | 1.52 | DISEASES 2260 | FGFR1 | 4.636 | DISEASES 2263 | FGFR2 | 7.225 | DISEASES 2261 | FGFR3 | 5.663 | DISEASES 2268 | FGR | 1.788 | DISEASES 342184 | FMN1 | 1.933 | DISEASES 2885 | GRB2 | 1.973 | DISEASES 84525 | HOPX | 2.124 | DISEASES 3590 | IL11RA | 2.991 | DISEASES 4014 | LOR | 1.604 | DISEASES 56953 | NT5M | 1.772 | DISEASES 4988 | OPRM1 | 1.163 | DISEASES 5076 | PAX2 | 1.101 | DISEASES 728378 | POTEF | 1.76 | DISEASES 90780 | PYGO2 | 2.736 | DISEASES 860 | RUNX2 | 1.979 | DISEASES 10252 | SPRY1 | 1.823 | DISEASES 161497 | STRC | 2.752 | DISEASES 7441 | VPREB1 | 2.207 | DISEASES 64856 | VWA1 | 3.25 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 452 |
|---|---|
| Disease | crouzon disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:33) HP:0011800 | Midface retrusion HP:0000262 | Turricephaly HP:0000520 | Proptosis HP:0000646 | Amblyopia HP:0000365 | Hearing impairment HP:0000453 | Choanal atresia HP:0000248 | Brachycephaly HP:0000929 | Abnormality of the skull HP:0001321 | Cerebellar hypoplasia HP:0000238 | Hydrocephalus HP:0000508 | Ptosis HP:0002007 | Frontal bossing HP:0001053 | Hypopigmented skin patches HP:0000486 | Strabismus HP:0000316 | Hypertelorism HP:0002516 | Increased intracranial pressure HP:0002308 | Arnold-Chiari malformation HP:0011324 | Multiple suture craniosynostosis HP:0011386 | Narrow internal auditory canal HP:0000612 | Iris coloboma HP:0005107 | Abnormality of the sacrum HP:0002093 | Respiratory insufficiency HP:0000327 | Hypoplasia of the maxilla HP:0001999 | Abnormal facial shape HP:0000648 | Optic atrophy HP:0000405 | Conductive hearing impairment HP:0000995 | Melanocytic nevus HP:0000348 | High forehead HP:0000444 | Convex nasal ridge HP:0000509 | Conjunctivitis HP:0000189 | Narrow palate HP:0000956 | Acanthosis nigricans HP:0002315 | Headache |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:17) HP:0000956 | Keratosis nigricans | 11 HP:0000238 | Nonsyndromal hydrocephalus | 2 HP:0001363 | Early fusion of cranial sutures | 2 HP:0001629 | Ventricular septal defects | 1 HP:0000648 | Optic-nerve degeneration | 1 HP:0002516 | Intracranial pressure elevation | 1 HP:0010535 | Sleep apnea | 1 HP:0002342 | Intellectual disability, moderate | 1 HP:0001305 | Dandy-Walker cyst | 1 HP:0000486 | Squint eyes | 1 HP:0002870 | Obstructive sleep apnea | 1 HP:0000998 | Hypertrichosis | 1 HP:0000327 | Maxillary micrognathia | 1 HP:0000577 | Exotropia | 1 HP:0002781 | Upper airway obstruction | 1 HP:0000274 | Hypoplasia of face | 1 HP:0009797 | Cholesteatoma | 1 |
| Disease ID | 452 |
|---|---|
| Disease | crouzon disease |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:21) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918487 | NA | 2263 | FGFR2 | umls:C0010273 | CLINVAR | NA | 0.255482118 | NA | FGFR2 | 10 | 121517378 | C | T |
| rs121918487 | 17105336 | 2263 | FGFR2 | umls:C0010273 | BeFree | Skulls of Fgfr2(C342Y/+) mice differ from normal littermates in a comparable manner with differences between the skulls of humans with Crouzon syndrome and those of unaffected individuals. | 0.255482118 | 2006 | FGFR2 | 10 | 121517378 | C | T |
| rs121918488 | NA | 2263 | FGFR2 | umls:C0010273 | CLINVAR | NA | 0.255482118 | NA | FGFR2 | 10 | 121517379 | A | T,G |
| rs121918488 | 25759925 | 2263 | FGFR2 | umls:C0010273 | BeFree | The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity. | 0.255482118 | 2015 | FGFR2 | 10 | 121517379 | A | T,G |
| rs121918489 | NA | 2263 | FGFR2 | umls:C0010273 | CLINVAR | NA | 0.255482118 | NA | FGFR2 | 10 | 121517385 | A | G |
| rs121918490 | NA | 2263 | FGFR2 | umls:C0010273 | CLINVAR | NA | 0.255482118 | NA | FGFR2 | 10 | 121517342 | G | C |
| rs121918491 | NA | 2263 | FGFR2 | umls:C0010273 | CLINVAR | NA | 0.255482118 | NA | FGFR2 | 10 | 121517371 | C | T |
| rs121918492 | NA | 2263 | FGFR2 | umls:C0010273 | CLINVAR | NA | 0.255482118 | NA | FGFR2 | 10 | 121517372 | G | C |
| rs121918493 | NA | 2263 | FGFR2 | umls:C0010273 | CLINVAR | NA | 0.255482118 | NA | FGFR2 | 10 | 121517420 | T | C |
| rs121918494 | NA | 2263 | FGFR2 | umls:C0010273 | CLINVAR | NA | 0.255482118 | NA | FGFR2 | 10 | 121517363 | G | C |
| rs121918496 | NA | 2263 | FGFR2 | umls:C0010273 | CLINVAR | NA | 0.255482118 | NA | FGFR2 | 10 | 121517377 | G | C |
| rs121918497 | 11484208 | 2263 | FGFR2 | umls:C0010273 | BeFree | Using the published primers for PCR, a patient with Crouzon syndrome was found to be homozygous for a mutation that results in a Q289P amino acid substitution in FGFR2. | 0.255482118 | 2001 | FGFR2 | 10 | 121520052 | T | G |
| rs121918497 | NA | 2263 | FGFR2 | umls:C0010273 | CLINVAR | NA | 0.255482118 | NA | FGFR2 | 10 | 121520052 | T | G |
| rs121918500 | NA | 2263 | FGFR2 | umls:C0010273 | CLINVAR | NA | 0.255482118 | NA | FGFR2 | 10 | 121520044 | T | C |
| rs121918501 | 22872266 | 2263 | FGFR2 | umls:C0010273 | BeFree | The Fgfr2 W290R mouse model of Crouzon syndrome. | 0.255482118 | 2012 | FGFR2 | 10 | 121520050 | A | G,C |
| rs121918501 | NA | 2263 | FGFR2 | umls:C0010273 | CLINVAR | NA | 0.255482118 | NA | FGFR2 | 10 | 121520050 | A | G,C |
| rs121918505 | 25759927 | 2263 | FGFR2 | umls:C0010273 | BeFree | S267P mutation in FGFR2: first report in a patient with Crouzon syndrome. | 0.255482118 | 2015 | FGFR2 | 10 | 121520119 | A | G |
| rs121918507 | NA | 2263 | FGFR2 | umls:C0010273 | CLINVAR | NA | 0.255482118 | NA | FGFR2 | 10 | 121498591 | T | C |
| rs28931615 | 8880573 | 2261 | FGFR3 | umls:C0010273 | BeFree | A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. | 0.001357209 | 1996 | FGFR3 | 4 | 1804426 | C | A |
| rs387906676 | NA | 2263 | FGFR2 | umls:C0010273 | CLINVAR | NA | 0.255482118 | NA | FGFR2 | 10 | 121517394 | C | T,G |
| rs4647924 | 10541159 | 2261 | FGFR3 | umls:C0010273 | BeFree | Two patients labeled as having Crouzon syndrome had the Pro250Arg mutation in exon 7 of FGFR3. | 0.001357209 | 1999 | FGFR3 | 4 | 1801844 | C | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001321 | Cerebellar hypoplasia | MP:0010422 | heart right ventricle hypoplasia | underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells |
| HP:0001999 | Abnormal facial shape | 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:0005107 | Abnormality of the sacrum | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000405 | Conductive hearing impairment | MP:0006325 | impaired hearing | reduced ability to perceive auditory stimuli |
| 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:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0000444 | Convex nasal ridge | MP:0004471 | short nasal bone | reduced length of either of two rectangular bone plates forming the bridge of the nose |
| HP:0011800 | Hypoplasia of midface | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000189 | Narrow palate | MP:0009653 | abnormal palate development | abnormal formation of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) |
| HP:0000327 | Hypoplasia of the maxilla | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000612 | Iris coloboma | MP:0005262 | coloboma | anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation |
| HP:0000453 | Choanal atresia | MP:0009510 | cecal atresia | congenital blockage or absence of the lumen of the cecum |
Mapped by homologous gene(Total Items:31) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000327 | Hypoplasia of the maxilla | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000509 | Conjunctivitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002516 | Increased intracranial pressure | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000453 | Choanal atresia | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000995 | Melanocytic nevus | 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: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:0002308 | Arnold-Chiari malformation | 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:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000956 | Acanthosis nigricans | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000189 | Narrow palate | 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:0000929 | Abnormality of the skull | 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:0000248 | Brachycephaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000262 | Turricephaly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001999 | Abnormal facial shape | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000444 | Convex nasal ridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000405 | Conductive hearing impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001321 | Cerebellar hypoplasia | 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:0000612 | Iris coloboma | MP:0013791 | absent external nares | absence or failure to form both of the anterior openings to the nasal cavity |
| HP:0001053 | Hypopigmented skin patches | 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:0000348 | High forehead | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0005107 | Abnormality of the sacrum | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000646 | Amblyopia | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0011800 | Hypoplasia of midface | 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: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 |
| Disease ID | 452 |
|---|---|
| Disease | crouzon disease |
| Case | (Waiting for update.) |