Atransferrinemia

Preferred Label : Atransferrinemia;

CISMeF acronym : TFQTL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypotransferrinemia, familial;

Included titles and symbols : Transferrin serum level quantitative trait locus 1; TFQTL1;

Description : Atransferrinemia is characterized by microcytic anemia and by iron loading. It can be treated effectively by plasma infusions (summary by Beutler et al., 2000).;

Inheritance : Autosomal recessive;

Prefixed ID : #209300;

Details

Origin ID

209300;

UMLS CUI

C0521802;

Automatic exact mappings (from CISMeF team)
- TF wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Atransferrinaemia [ICD-11 More detail]
- Atransferrinemia [HPO term]
- Atransferrinemia [NCIt concept]
- Congenital atransferrinaemia [ICD-11 More detail]
- Congenital atransferrinaemia [MedDRA LLT]
- Congenital atransferrinemia [ORDO Disease]
- Congenital atransferrinemia [MeSH concept]
- Congenital atransferrinemia [MedDRA LLT]
- Congenital atransferrinemia (disorder) [SNOMED CT concept]
- atransferrinemia [DO Concept]
- atransferrinemia [Disease (Nov.)]
- congenital atransferrinemia [SNOMED Notion]
- congenital atransferrinemia [MeSH Supplementary Concept]
DO Cross reference
- atransferrinemia [DO Concept]
Genes related to phenotype
- Transferrin [OMIM gene]
HPO term(s)
- Abnormality of the liver [HPO term]
- Atransferrinemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congestive heart failure [HPO term]
- Hypochromic anemia [HPO term]
ORDO concept(s)
- Congenital atransferrinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Atransferrinaemia [ICD-11 More detail]
- Atransferrinemia [HPO term]
- Atransferrinemia [NCIt concept]
- Congenital atransferrinaemia [MedDRA LLT]
- Congenital atransferrinemia [ORDO Disease]
- Congenital atransferrinemia [MeSH concept]
- Congenital atransferrinemia [MedDRA LLT]
- Congenital atransferrinemia (disorder) [SNOMED CT concept]
- atransferrinemia [DO Concept]
- atransferrinemia [Disease (Nov.)]
- congenital atransferrinemia [MeSH Supplementary Concept]
- congenital atransferrinemia [SNOMED Notion]

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