ODCs

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1 OMIM reference -
1 associated gene
6 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

1 OMIM reference -
2 associated genes
4 signs/symptoms

Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Palmoplantar keratoderma-deafness syndrome

GJB2	(UniProt - OMIM)		GJB2	(UniProt - OMIM)
			MT-TS1	(OMIM)

Citations in the biomedical literature:

Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome		Palmoplantar keratoderma-deafness syndrome
	Synonym(s): - Bart-Pumphrey syndrome - Knuckle pads-leuconychia-sensorineural deafness-palmoplantar keratoderma syndrome		Synonym(s): - PPK-deafness syndrome - Palmoplantar hyperkeratosis-deafness syndrome - Palmoplantar hyperkeratosis-hearing loss syndrome - Palmoplantar keratoderma-hearing loss syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		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: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536152


COMMON SIGNS	- Autosomal dominant inheritance - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Palmoplantar hyperkeratosis / keratoderma - Sensorineural deafness / hearing loss

Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome		Palmoplantar keratoderma-deafness syndrome
	Very frequent - Abnormal nails colour / leukonychia / melanonychia - Subcutaneous nodules / lipomas / tumefaction / swelling		(no more signs)