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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
6 signs/symptoms
Annular epidermolytic ichthyosis
Keratoderma hereditarium mutilans with ichthyosis

KRT1 LOR
KRT10


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT1
(0.75)
LOR



Citations in the biomedical literature:


Annular epidermolytic ichthyosis
KRT1 KRT10
Keratoderma hereditarium mutilans with ichthyosis
LOR



Annular epidermolytic ichthyosis
Keratoderma hereditarium mutilans with ichthyosis

Synonym(s):
- AEI

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

Classification (Orphanet):
- Rare genetic disease
- Rare skin 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:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
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


Annular epidermolytic ichthyosis

(no data available)