Hyperferritinemia with or without cataract

Preferred Label : Hyperferritinemia with or without cataract;

Symbol : HRFTC;

CISMeF acronym : HHCS; HRFTC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HHCS; Hyperferritinemia, hereditary, with congenital cataracts; Hyperferritinemia-cataract syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ferritin light chain gene (FTL, 134790.0001);

Laboratory abnormalities : Elevated ferritin L subunit; Elevated serum ferritin; Normal red cell counts; Serum ferritin hyperglycosylation; Normal serum iron; Normal transferrin saturation;

Prefixed ID : #600886;

Détails

Origin ID

600886;

UMLS CUI

C1833213;

Currated CISMeF NLP mapping
- Hereditary hyperferritinemia-cataract syndrome [ORDO Disease]
- Hyperferritinemia cataract syndrome (disorder) [SNOMED CT concept]
- Hyperferritinemia, hereditary, with congenital cataracts [MeSH concept]
- hyperferritinemia, hereditary, with congenital cataracts [MeSH Supplementary Concept]
- hyperferritinemia-cataract syndrome [DO Concept]
DO Cross reference
- hyperferritinemia-cataract syndrome [DO Concept]
Genes related to phenotype
- Ferritin light chain [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Nuclear cataract [HPO term]
- Pulverulent cataract [HPO term]
Not associated HPO term(s)
- Abnormal serum iron concentration [HPO term]
- Abnormal transferrin saturation [HPO term]
ORDO concept(s)
- Hereditary hyperferritinemia-cataract syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary hyperferritinemia-cataract syndrome [ORDO Disease]
- Hyperferritinemia cataract syndrome (disorder) [SNOMED CT concept]
- Hyperferritinemia, hereditary, with congenital cataracts [MeSH concept]
- hyperferritinemia, hereditary, with congenital cataracts [MeSH Supplementary Concept]
- hyperferritinemia-cataract syndrome [DO Concept]

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