L-ferritin deficiency

Preferred Label : L-ferritin deficiency;

Symbol : LFTD;

CISMeF acronym : LFTD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the ferritin light chain gene (FTL, 134790.0018);

Laboratory abnormalities : Undetectable serum L-transferrin (homozygous patient); Decreased serum L-transferrin (heterozygous patient);

Prefixed ID : #615604;

Details

Origin ID

615604;

UMLS CUI

C3810090;

Currated CISMeF NLP mapping
- L-ferritin deficiency [ORDO Disease]
- L-ferritin deficiency (disorder) [SNOMED CT concept]
Genes related to phenotype
- Ferritin light chain [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased circulating ferritin concentration [HPO term]
- Generalized-onset seizure [HPO term]
- Juvenile onset [HPO term]
- Restless legs [HPO term]
ORDO concept(s)
- L-ferritin deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- L-ferritin deficiency [ORDO Disease]
- L-ferritin deficiency (disorder) [SNOMED CT concept]

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