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7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
6 signs/symptoms
Pulverulent cataract
Keratoderma hereditarium mutilans with ichthyosis

CRYBB1 LOR
CRYGC
GJA3
GJA8
LIM2
MAF
VIM


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VIM
(0.63)
LOR



Citations in the biomedical literature:


Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM
Keratoderma hereditarium mutilans with ichthyosis
LOR



Pulverulent cataract
Keratoderma hereditarium mutilans with ichthyosis

Synonym(s):
- Dusty cataract

Synonym(s):
- Camisa disease
- Keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase
- Loricrin keratoderma
- Vohwinkel syndrome - ichthyosis

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

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

Keratoderma hereditarium mutilans with ichthyosis

Very frequent
- Ichthyosis / ichthyosiform dermatitis
- Palmoplantar hyperkeratosis / keratoderma

Occasional
- Auto-aggressivity / auto-mutilation
- Hypertonia / spasticity / rigidity / stiffness
- Motor deficit / trouble
- Nails anomalies


Pulverulent cataract

(no data available)