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Syndromic microphthalmia type 5
1 OMIM reference -
1 associated gene
24 connected diseases
No signs/symptoms info
Disease Type of connection
Agnathia - holoprosencephaly - situs inversus
Combined pituitary hormone deficiencies, genetic forms
Isolated anophthalmia - microphthalmia
Septo-optic dysplasia
17q12 microdeletion syndrome
Classic Mayer-Rokitansky-Küster-Hauser syndrome
MURCS association
Spinocerebellar ataxia type 1
Dedifferentiated liposarcoma
Familial melanoma
Well-differentiated liposarcoma
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
Waardenburg syndrome type 2
Synonym(s):
- MCOPS5
- Syndromic microphthalmia/anophthalmia due to OTX2 mutation
Classification (Orphanet):
- Rare eye disease
- Rare genetic 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: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
OTX2 P32243600037
No signs/symptoms info available.