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4 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Dowling-Degos disease
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

KRT5 BTK
POFUT1 ELF4
POGLUT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT5
(0.68)
BTK



Citations in the biomedical literature:


Dowling-Degos disease
KRT5 POFUT1 POGLUT1
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
BTK ELF4



Dowling-Degos disease
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

Synonym(s):
- Reticular pigment anomaly of flexures

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive

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

No signs/symptoms info available.