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Adenylosuccinate lyase deficiency

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Haim-Munk syndrome

1 OMIM reference -
1 associated gene
16 signs/symptoms

Adenylosuccinate lyase deficiency

Haim-Munk syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ADSL	(0.63)	CTSC

Citations in the biomedical literature:

Adenylosuccinate lyase deficiency		Haim-Munk syndrome
	Synonym(s): - ADSL deficiency - Adenylosuccinase deficiency		Synonym(s): - Keratosis palmoplantaris - periodontopathia - onychogryposis - Palmoplantar hyperkeratosis - periodontopathia - onychogryposis - Palmoplantar keratoderma - periodontopathia - onychogryposis

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		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: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C538235		External references: 1 OMIM reference - 1 MeSH reference: C537627

Haim-Munk syndrome
	Very frequent - Alveolysis / paraodontitis - Autosomal recessive inheritance - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Flat foot - Long hand / arachnodactyly - Osteolysis / osteoclasia / bone destruction / erosions - Palmoplantar hyperkeratosis / keratoderma - Thick skin / pachydermia / orange skin - Thickened / hypertrophic / fibromatous gingivae Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Terminal / third phalangeal bone of fingers broadened / deviated Occasional - Anomalies of spine, vertebrae and pelvis - Arthritis / synovitis / synovial proliferation - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
Adenylosuccinate lyase deficiency
(no data available)