eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| frontonasal dysplasia | ||||
| Disease ID | 1532 |
|---|---|
| Disease | frontonasal dysplasia |
| Definition | Frontonasal dysplasia, also known as median cleft face syndrome, is a very rare disorder characterized by abnormalities affecting the head and facial (craniofacial) region. Major physical characteristics may include widely spaced eyes (ocular hypertelorism), a flat broad nose; and/or a vertical groove down the middle of the face. The depth and width of the vertical groove may vary greatly. In some cases, the tip of the nose may be missing; in more severe cases, the nose may separate vertically into two parts. In addition, an abnormal skin-covered gap in the front of the head (anterior cranium occultum) may also be present in some cases. The exact cause of frontonasal dysplasia is not known. Most cases occur randomly, for no apparent reason (sporadically). However, some cases are thought to run in families. - NORD Reference: NORD |
| Synonym | midline facial cleft - tessier cleft 0 midline facial cleft - tessier cleft 0 (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C0432106 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1532 |
|---|---|
| Disease | frontonasal dysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:24) HP:0000028 | Cryptorchidism HP:0000456 | Bifid nasal tip HP:0004322 | Short stature HP:0000453 | Choanal atresia HP:0001360 | Holoprosencephaly HP:0011817 | Basal encephalocele HP:0007598 | Bilateral single transverse palmar creases HP:0007370 | Aplasia/Hypoplasia of the corpus callosum HP:0002564 | Malformation of the heart and great vessels HP:0000465 | Webbed neck HP:0000316 | Hypertelorism HP:0000384 | Preauricular skin tag HP:0000175 | Cleft palate HP:0000349 | Widow's peak HP:0005469 | Flat occiput HP:0004209 | Clinodactyly of the 5th finger HP:0000431 | Wide nasal bridge HP:0000405 | Conductive hearing impairment HP:0001249 | Intellectual disability HP:0001363 | Craniosynostosis HP:0000161 | Median cleft lip HP:0100490 | Camptodactyly of finger HP:0000368 | Low-set, posteriorly rotated ears HP:0000238 | Hydrocephalus |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0002308 | Chiari malformation | 1 HP:0007035 | Anterior encephalocele | 1 HP:0012377 | Hemianopia | 1 HP:0002282 | Heterotopias | 1 |
| Disease ID | 1532 |
|---|---|
| Disease | frontonasal dysplasia |
| Manually Symptom | (Waiting for update.) |
| 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:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908166 | NA | 257 | ALX3 | umls:C1876203 | CLINVAR | NA | 0.481085767 | NA | ALX3 | 1 | 110061550 | T | C |
| rs121908167 | NA | 257 | ALX3 | umls:C1876203 | CLINVAR | NA | 0.481085767 | NA | ALX3 | 1 | 110064679 | G | C |
| rs121908168 | NA | 257 | ALX3 | umls:C1876203 | CLINVAR | NA | 0.481085767 | NA | ALX3 | 1 | 110064634 | G | A |
| rs121908169 | NA | 257 | ALX3 | umls:C1876203 | CLINVAR | NA | 0.481085767 | NA | ALX3 | 1 | 110064638 | A | T |
| rs121908170 | 19409524 | 257 | ALX3 | umls:C1876203 | UNIPROT | Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. | 0.481085767 | 2009 | ALX3 | 1 | 110064595 | G | A |
| rs121908170 | NA | 257 | ALX3 | umls:C1876203 | CLINVAR | NA | 0.481085767 | NA | ALX3 | 1 | 110064595 | G | A |
| rs387906319 | NA | 257 | ALX3 | umls:C1876203 | CLINVAR | NA | 0.481085767 | NA | ALX3 | 1 | 110064600 | TCAG | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000161 | Median cleft lip | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0000431 | Wide nasal bridge | MP:0006292 | abnormal nasal placode morphology | any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epith |
| HP:0000384 | Preauricular skin tag | MP:0001786 | skin edema | accumulation of an excessive amount of fluid in the skin layers or just underneath the skin |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0100490 | Camptodactyly of finger | 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:0004209 | Clinodactyly of the 5th finger | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000405 | Conductive hearing impairment | MP:0006325 | impaired hearing | reduced ability to perceive auditory stimuli |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0000453 | Choanal atresia | MP:0009510 | cecal atresia | congenital blockage or absence of the lumen of the cecum |
Mapped by homologous gene(Total Items:22) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007598 | Bilateral single transverse palmar creases | MP:0012279 | wide sternum | an increase in the width of the long flat bone of the chest that articulates with the clavicle and first seven rib pairs |
| 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:0000456 | Bifid nasal tip | MP:0014117 | increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| 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: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:0000161 | Median cleft lip | MP:0014117 | increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| HP:0001363 | Craniosynostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0007370 | Aplasia/Hypoplasia of the corpus callosum | 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:0000384 | Preauricular skin tag | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100490 | Camptodactyly of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000405 | Conductive hearing impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000175 | Cleft palate | 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: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:0000349 | Widow's peak | MP:0014117 | increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| HP:0005469 | Flat occiput | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001360 | Holoprosencephaly | MP:0014051 | abnormal maxillary-premaxillary suture morphology | any structural anomaly of the line of union of the two portions of the maxilla (pre- and postmaxilla) |
| HP:0000368 | Low-set, posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004209 | Clinodactyly of the 5th finger | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| 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:0000431 | Wide nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1532 |
|---|---|
| Disease | frontonasal dysplasia |
| Case | (Waiting for update.) |