ODCs

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1 OMIM reference -
4 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 3
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
23 signs/symptoms

Epidermolytic palmoplantar keratoderma

Cabezas syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT1 KRT16 KRT9	(0.63) (0.63) (0.63)	CUL4B CUL4B CUL4B

Citations in the biomedical literature:

Epidermolytic palmoplantar keratoderma		Cabezas syndrome
	Synonym(s): - Diffuse erythrodermic palmoplantar keratoderma, Voerner type - Diffuse erythrodermic palmoplantar keratoderma, VÃ¶rner type - EPPK - Epidermolytic palmoplantar keratoderma of Voerner - Epidermolytic palmoplantar keratoderma of VÃ¶rner		Synonym(s): - X-linked intellectual deficit, Cabezas type

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		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: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Hyperhidrosis / increased sweating

Epidermolytic palmoplantar keratoderma		Cabezas syndrome
	Very frequent - Autosomal dominant inheritance - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Palmoplantar hyperkeratosis / keratoderma - Warts / papillomas Frequent - Abnormal fingernails - Eczema		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 - Immunodeficiency / increased susceptibility to infections / recurrent infections - Kyphosis - Late puberty / hypogonadism / hypogenitalism - Syndactyly of toes