Lig4 syndrome - CISMeF

Preferred Label : Lig4 syndrome;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ligase IV, DNA, ATP-dependent gene (LIG4, 601837);

Neoplasia : T-cell acute lymphoblastic leukemia (in 1 patient);

Laboratory abnormalities : Radiosensitivity, severe;

Prefixed ID : #606593;

Détails

Origin ID

606593;

UMLS CUI

C1847827;

Currated CISMeF NLP mapping
- DNA ligase IV deficiency [DO Concept]
- DNA-ligase IV deficiency [ICD-11 More detail]
- LIG4 Syndrome [NCIt concept]
- LIG4 syndrome [MeSH concept]
- LIG4 syndrome [MeSH Supplementary Concept]
- LIG4 syndrome [ORDO Disease]
- Ligase 4 syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- DNA ligase IV deficiency [DO Concept]
Genes related to phenotype
- Ligase iv, dna, atp-dependent [OMIM gene]
HPO term(s)
- Amenorrhea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cryptorchidism [HPO term]
- Cutaneous photosensitivity [HPO term]
- Delayed speech and language development [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hypotelorism [HPO term]
- Hypothyroidism [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Myelodysplasia [HPO term]
- Narrow forehead [HPO term]
- Pancytopenia [HPO term]
- Prominent nose [HPO term]
- Psoriasiform dermatitis [HPO term]
- Telangiectasia [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- LIG4 syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- LIG4 Syndrome [NCIt concept]
- LIG4 syndrome [MeSH Supplementary Concept]
- LIG4 syndrome [MeSH concept]
- LIG4 syndrome [ORDO Disease]
- Ligase 4 syndrome (disorder) [SNOMED CT concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients