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4 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Dowling-Degos disease
Ichthyosis hystrix of Curth-Macklin

KRT5 KRT1
POFUT1
POGLUT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT5
(0.52)
KRT1



Citations in the biomedical literature:


Dowling-Degos disease
KRT5 POFUT1 POGLUT1
Ichthyosis hystrix of Curth-Macklin
KRT1



Dowling-Degos disease
Ichthyosis hystrix of Curth-Macklin

Synonym(s):
- Reticular pigment anomaly of flexures

Synonym(s):
- Ichthyosis hystrix, Curth-Macklin type

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536088

Ichthyosis hystrix of Curth-Macklin

Very frequent
- Autosomal dominant inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Ichthyosis / ichthyosiform dermatitis

Frequent
- Abnormal fingernails
- Contractures / cramps / trismus / tetania / claudication / opisthotonos

Occasional
- Gangrena / necrosis


Dowling-Degos disease

(no data available)