Ataxia-telangiectasia-like disorder 2

Preferred Label : Ataxia-telangiectasia-like disorder 2;

Symbol : ATLD2;

CISMeF acronym : ATLD2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the proliferating cell nuclear antigen gene (PCNA, 176740.0001);

Neoplasia : Predisposition to UV-induced malignancies;

Prefixed ID : #615919;

Détails

Origin ID

615919;

UMLS CUI

C4014676;

Currated CISMeF NLP mapping
- PCNA-related progressive neurodegenerative photosensitivity syndrome [ORDO Disease]
- Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Proliferating cell nuclear antigen [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Conjunctival telangiectasia [HPO term]
- Cutaneous photosensitivity [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Flexion contracture [HPO term]
- Global developmental delay [HPO term]
- Microcephaly [HPO term]
- Muscle weakness [HPO term]
- Neurodegeneration [HPO term]
- Pes cavus [HPO term]
- Photophobia [HPO term]
- Progressive [HPO term]
- Progressive muscle weakness [HPO term]
- Short stature [HPO term]
- Telangiectasia [HPO term]
- Unsteady gait [HPO term]
ORDO concept(s)
- PCNA-related progressive neurodegenerative photosensitivity syndrome [ORDO Disease]
See also inter- (CISMeF)
- PCNA wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) [SNOMED CT concept]

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