Cytoscape Web
Click node...


7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
13 signs/symptoms
Pulverulent cataract
Monomelic amyotrophy

CRYBB1 C5ORF42
CRYGC KIAA1377
GJA3
GJA8
LIM2
MAF
VIM


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VIM
(0.73)
KIAA1377



Citations in the biomedical literature:


Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM
Monomelic amyotrophy
C5ORF42 KIAA1377



Pulverulent cataract
Monomelic amyotrophy

Synonym(s):
- Dusty cataract

Synonym(s):
- Benign focal amyotrophy
- Hirayama disease
- JMADUE
- Juvenile muscular atrophy of distal upper extremity
- Juvenile muscular atrophy of the distal upper limb

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
(no data available)

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: unknown

External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538253

Monomelic amyotrophy

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Upper limb asymmetry / hemiatrophy / hemihypertrophy
- Upper limb segmental anomalies

Frequent
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Anomalies of spine, vertebrae and pelvis
- Autosomal recessive inheritance
- Nerve conduction abnormality

Occasional
- Anomalies of the immunitary system
- Movement disorder
- Myoclonus / fasciculations
- Tremor


Pulverulent cataract

(no data available)