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Pulverulent cataract
7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Developmental malformations - deafness - dystonia
1 OMIM reference -
1 associated gene
22 signs/symptoms
Pulverulent cataract
Developmental malformations - deafness - dystonia

CRYBB1
(UniProt - OMIM)
 ACTB
(UniProt - OMIM)
CRYGC
(UniProt - OMIM)
GJA3
(UniProt - OMIM)
GJA8
(UniProt - OMIM)
LIM2
(UniProt - OMIM)
MAF
(UniProt - OMIM)
VIM
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
VIM
(0.55)
ACTB


Citations in the biomedical literature:


Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM
Developmental malformations - deafness - dystonia
ACTB



Pulverulent cataract
Developmental malformations - deafness - dystonia

Synonym(s):
- Dusty cataract
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown
External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Developmental malformations - deafness - dystonia

Very frequent
- Autosomal dominant inheritance
- Cleft lip and palate
- Dystonia / torticollis / writer's cramp / blepharospasms
- Early death in adulthood
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Functional colopathy / irritable bowel syndrome
- High forehead
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertelorism
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia
- Psychic / psychomotor regression / dementia / intellectual decline
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Scoliosis
- Sensorineural deafness / hearing loss
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Frequent
- Cataract / lens opacification
- Visual loss / blindness / amblyopia



Pulverulent cataract

(no data available)