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Adenylosuccinate lyase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Papillon-Lefèvre syndrome
1 OMIM reference -
1 associated gene
27 signs/symptoms
Adenylosuccinate lyase deficiency
Papillon-Lefèvre syndrome

ADSL
(UniProt - OMIM)
 CTSC
(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
ADSL
Papillon-Lefèvre syndrome
CTSC



Adenylosuccinate lyase deficiency
Papillon-Lefèvre syndrome

Synonym(s):
- ADSL deficiency
- Adenylosuccinase deficiency
Synonym(s):
- Keratosis palmoplantar - periodontopathy
- PLS
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 immune 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: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C538235
External references:
1 OMIM reference -
1 MeSH reference: D010214
Papillon-Lefèvre syndrome

Very frequent
- Alveolysis / paraodontitis
- Anodontia / oligodontia / hypodontia
- Anomalies of teeth and dentition
- Autosomal recessive inheritance
- Dysplastic / thick / grooved fingernails
- Gingivitis
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Palmoplantar hyperkeratosis / keratoderma
- Premature lost of decidious teeth
- Pustula / pustulosis

Frequent
- Chronic skin infection / ulcerations / ulcers / cancrum
- Intracranial / cerebral calcifications
- Nails anomalies
- Repeat respiratory infections
- Thin / hypoplastic / hyperconvex fingernails

Occasional
- Anomalies of spine, vertebrae and pelvis
- Decreased body hair / axillar / pubic hairlessness
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hirsutism / hypertrichosis / Increased body hair
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Irregular / patchy skin hypopigmentation
- Liver / hepatic abscess
- Long hand / arachnodactyly
- Melanoma
- Osteolysis / osteoclasia / bone destruction / erosions
- Skin tumors / lumps / epidermal cysts


Adenylosuccinate lyase deficiency

(no data available)