ODCs

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Cabezas syndrome

1 OMIM reference -
1 associated gene
23 signs/symptoms

PROTEIN INTERACTIONS: 2

Epidermolysis bullosa simplex with mottled pigmentation

1 OMIM reference -
2 associated genes
10 signs/symptoms

Cabezas syndrome

Epidermolysis bullosa simplex with mottled pigmentation

CUL4B	(UniProt - OMIM)		KRT14	(UniProt - OMIM)
			KRT5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL4B CUL4B	(0.63) (0.63)	KRT14 KRT5

Citations in the biomedical literature:

Cabezas syndrome		Epidermolysis bullosa simplex with mottled pigmentation
	Synonym(s): - X-linked intellectual deficit, Cabezas type		Synonym(s): - EBS-MP

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535959

Cabezas syndrome		Epidermolysis bullosa simplex with mottled pigmentation
	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		Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Autosomal dominant inheritance - Follicular / erythematous / edematous papules / milium - Irregular / patchy skin hypopigmentation - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Abnormal fingernails - Bruisability - Nails anomalies - Palmoplantar hyperkeratosis / keratoderma - Premature ageing