Transcobalamin I deficiency

Preferred Label : Transcobalamin I deficiency;

Symbol : TCN1D;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Tcn1 deficiency; Cobalamin pseudodeficiency due to transcobalamin deficiency; Cobalamin r binder protein deficiency;

Included titles and symbols : Transcobalamin I deficiency with lactoferrin deficiency; R binder deficiency with lactoferrin deficiency;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Decreased serum and salivary lactoferrin has been described in 1 family; Decreased serum cobalamin; Decreased transcobalamin I in saliva, serum, gastric juice, and cerebrospinal fluid;

Prefixed ID : %193090;

Details

Origin ID

193090;

UMLS CUI

C0342700;

Currated CISMeF NLP mapping
- Haptocorrin deficiency [ICD-11 More detail]
- Transcobalamin I deficiency [ORDO Disease]
- Transcobalamin I deficiency (disorder) [SNOMED CT concept]
- Transcobalamin deficiency [ORDO Disease]
- transcobalamin I deficiency [MeSH concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Paresthesia [HPO term]
- Reduced tendon reflexes [HPO term]
ORDO concept(s)
- Transcobalamin I deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Transcobalamin I deficiency [ORDO Disease]
- Transcobalamin I deficiency (disorder) [SNOMED CT concept]
- transcobalamin I deficiency [MeSH Supplementary Concept]
- transcobalamin I deficiency [MeSH concept]
Validated automatic mappings to BTNT
- transcobalamin I deficiency [MeSH Supplementary Concept]

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