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Agnathia - holoprosencephaly - situs inversus
1 OMIM reference -
2 associated genes
28 connected diseases
20 signs/symptoms
Disease Type of connection
Combined pituitary hormone deficiencies, genetic forms
Isolated anophthalmia - microphthalmia
Septo-optic dysplasia
Syndromic microphthalmia type 5
Waardenburg syndrome type 2
17q12 microdeletion syndrome
Classic Mayer-Rokitansky-Küster-Hauser syndrome
MURCS association
Spinocerebellar ataxia type 1
Dedifferentiated liposarcoma
Familial melanoma
Well-differentiated liposarcoma
Kallmann syndrome
Neurologic Waardenburg-Shah syndrome
Waardenburg-Shah syndrome
Williams syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Clear cell renal carcinoma
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Tietz syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
OTX2 P32243600037
PRRX1 P54821167420
Very frequent
- Absent / decreased / thin eyebrows
- Anomalies of eyelids, eyelashes and lacrimal system
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Corpus callosum / septum pellucidum total / partial agenesis
- Cranial nerve anomalies
- Cyclopia
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypoplastic mandibula / partial absence of the mandibula
- Low set ears / posteriorly rotated ears
- Microglossia / aglossia / hypoglossia / tongue hypoplasia
- Micropenis / small penis / agenesis
- Microstomia / little mouth
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Nasal atrophy / hypoplasia / arhinia / rudimentary nose
- Polyhydramnios
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Single nare / abouphalia
- Situs inversus visceralis / colon / intestine trasposition / heterotaxia
- Stillbirth / neonatal death
- Synotia