Revesz syndrome

Preferred Label : Revesz syndrome;

CISMeF acronym : DKCA5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DKCA5; Dyskeratosis congenita, autosomal dominant 5; Exudative retinopathy with bone marrow failure;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the TRF1-interacting nuclear factor 2 gene (TINF2, 604319.0002);

Laboratory abnormalities : Chromosome instability (hypo-/hyperdiploidy, chromosomal breaks, premature centromere division); Shortened telomeres;

Prefixed ID : #268130;

Détails

Origin ID

268130;

UMLS CUI

C1327916;

Currated CISMeF NLP mapping
- Revesz Debuse syndrome [MeSH concept]
- Revesz Syndrome [NCIt concept]
- Revesz syndrome [DO Concept]
- Revesz syndrome [Disease (Nov.)]
- Revesz syndrome [ORDO Disease]
- Revesz syndrome (disorder) [SNOMED CT concept]
- revesz debuse syndrome [MeSH Supplementary Concept]
DO Cross reference
- Revesz syndrome [DO Concept]
Genes related to phenotype
- Terf1-interacting nuclear factor 2 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Aplastic anemia [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral calcification [HPO term]
- Exudative retinopathy [HPO term]
- Fine hair [HPO term]
- Fine, reticulate skin pigmentation [HPO term]
- Global developmental delay [HPO term]
- Hypertonia [HPO term]
- Intrauterine growth retardation [HPO term]
- Isolated cases [HPO term]
- Leukocoria [HPO term]
- Megalocornea [HPO term]
- Nail dystrophy [HPO term]
- Nail pits [HPO term]
- Nystagmus [HPO term]
- Oral leukoplakia [HPO term]
- Progressive neurologic deterioration [HPO term]
- Psychomotor retardation [HPO term]
- Ridged fingernail [HPO term]
- Sparse hair [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- Revesz syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Revesz Debuse syndrome [MeSH concept]
- Revesz Syndrome [NCIt concept]
- Revesz syndrome [ORDO Disease]
- Revesz syndrome [DO Concept]
- Revesz syndrome [Disease (Nov.)]
- Revesz syndrome (disorder) [SNOMED CT concept]
- revesz debuse syndrome [MeSH Supplementary Concept]

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

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