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Dowling-Degos disease
4 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Cabezas syndrome
1 OMIM reference -
1 associated gene
23 signs/symptoms
Dowling-Degos disease
Cabezas syndrome

KRT5
(UniProt - OMIM)
 CUL4B
(UniProt - OMIM)
POFUT1
(UniProt - OMIM)
POGLUT1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
KRT5
(0.63)
CUL4B


Citations in the biomedical literature:


Dowling-Degos disease
KRT5 POFUT1 POGLUT1
Cabezas syndrome
CUL4B



Dowling-Degos disease
Cabezas syndrome

Synonym(s):
- Reticular pigment anomaly of flexures
Synonym(s):
- X-linked intellectual deficit, Cabezas type
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
(no data available)
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: -
Type of inheritance: x-linked recessive
External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Cabezas syndrome

Very frequent
- Inguinal / inguinoscrotal / crural hernia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Abnormal gait
- Blepharophimosis / short palpebral fissures
- Everted lower lip
- Generalized obesity
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Pes cavus
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short foot / brachydactyly of toes
- Short stature / dwarfism / nanism
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Tremor
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
- Wide space between 1st-2nd toes

Occasional
- Acanthosis nigricans
- Hyperextensible joints / articular hyperlaxity
- Hyperhidrosis / increased sweating
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Kyphosis
- Late puberty / hypogonadism / hypogenitalism
- Syndactyly of toes


Dowling-Degos disease

(no data available)