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1 OMIM reference -
1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
3 OMIM references -
3 associated genes
4 signs/symptoms
Keratoderma hereditarium mutilans with ichthyosis
Keratosis palmoplantaris striata

LOR DSG1
DSP
KRT1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Keratoderma hereditarium mutilans with ichthyosis
LOR
Keratosis palmoplantaris striata
DSG1 DSP KRT1



Keratoderma hereditarium mutilans with ichthyosis
Keratosis palmoplantaris striata

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

Synonym(s):
- Keratosis palmoplantaris striata et areata
- Keratosis palmoplantaris varians of Wachters
- Striate palmoplantar keratoderma

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:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma


Keratoderma hereditarium mutilans with ichthyosis
Keratosis palmoplantaris striata

Very frequent
- Ichthyosis / ichthyosiform dermatitis

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


Very frequent
- Autosomal dominant inheritance

Frequent
- Hair and scalp anomalies