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Cataract-microcornea syndrome

3 OMIM references -
8 associated genes
38 connected diseases
9 signs/symptoms

Disease	Type of connection
Zonular cataract
Nuclear cataract
Pulverulent cataract
Cerulean cataract
Coppock-like cataract
Cataract with Y-shaped suture opacities
Total congenital cataract
Coralliform cataract
Microphthalmia - cataract
Alpha-crystallinopathy
Familial isolated dilated cardiomyopathy
Fatal infantile hypertonic myofibrillar myopathy
Posterior polar cataract
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Distal hereditary motor neuropathy type 2
Berardinelli-Seip congenital lipodystrophy
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
Campomelic dysplasia
Acute basophilic leukemia
Precursor T-cell acute lymphoblastic leukemia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Extraskeletal Ewing sarcoma
Multicentric carpo-tarsal osteolysis with or without nephropathy
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Inherited acute myeloid leukemia
Acute promyelocytic leukemia
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Congenital analbuminemia
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
MODY syndrome
Permanent neonatal diabetes mellitus
Transient neonatal diabetes mellitus

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: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		External references: 3 OMIM references - 1 MeSH reference: C538287

Very frequent

- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Cataract / lens opacification
- Microcornea

Frequent

- Myopia

Occasional

- Coloboma of iris
- Corneal clouding / opacity / vascularisation
- Corneal dystrophy
- Nystagmus