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Pulverulent cataract
7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Multicentric carpo-tarsal osteolysis with or without nephropathy
1 OMIM reference -
1 associated gene
21 signs/symptoms
Pulverulent cataract
Multicentric carpo-tarsal osteolysis with or without nephropathy

CRYBB1
(UniProt - OMIM)
 MAFB
(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)
MAF
(0.72)
MAFB


Citations in the biomedical literature:


Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM
Multicentric carpo-tarsal osteolysis with or without nephropathy
MAFB



Pulverulent cataract
Multicentric carpo-tarsal osteolysis with or without nephropathy

Synonym(s):
- Dusty cataract
Synonym(s):
- Idiopathic multicentric osteolysis with or without nephropathy
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Multicentric carpo-tarsal osteolysis with or without nephropathy

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal gait
- Autosomal dominant inheritance
- Metacarpal anomalies / Archibald's sign
- Micrognathia / retrognathia / micrognathism / retrognathism
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia
- Osteolysis / osteoclasia / bone destruction / erosions
- Proptosis / exophthalmos
- Proteinuria
- Restricted joint mobility / joint stiffness / ankylosis
- Triangular face
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
- Wrist / carpal anomalies

Frequent
- Camptodactyly of fingers
- Renal disease / nephropathy

Occasional
- Broad nasal root
- Downturned mouth
- Epiphyseal anomaly
- Polyhydramnios
- Telecanthus / canthal dystopy


Pulverulent cataract

(no data available)