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Total congenital cataract
7 OMIM references -
5 associated genes
49 connected diseases
No signs/symptoms info
Disease Type of connection
Nuclear cataract
Zonular cataract
Cataract with Y-shaped suture opacities
Cerulean cataract
Cataract-microcornea syndrome
Coppock-like cataract
Posterior polar cataract
Anterior polar cataract
Nance-Horan syndrome
Pulverulent cataract
Familial isolated dilated cardiomyopathy
Alpha-crystallinopathy
Fatal infantile hypertonic myofibrillar myopathy
Juvenile myelomonocytic leukemia
Giant cell glioblastoma
Gliosarcoma
Autosomal agammaglobulinemia
SHORT syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Distal hereditary motor neuropathy type 2
LEOPARD syndrome
Metachondromatosis
Noonan syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Catecholaminergic polymorphic ventricular tachycardia
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Autosomal dominant macrothrombocytopenia
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
Familial hypocalciuric hypercalcemia type 3
Fetal and neonatal alloimmune thrombocytopenia
Glanzmann thrombasthenia
Inflammatory myofibroblastic tumor
Microphthalmia - cataract
Translocation renal cell carcinoma
Congenital bilateral absence of vas deferens
Cystic fibrosis
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
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Capillary malformation - arteriovenous malformation
Parkes Weber syndrome
Spinocerebellar ataxia type 26
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
7 OMIM references -
1 MeSH reference: C535341
No signs/symptoms info available.