Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay

Preferred Label : Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay;

Symbol : SIFD;

CISMeF acronym : SIFD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tRNA nucleotidyltransferase, CCA-adding, 1 gene (TRNT1, 612907.0001);

Laboratory abnormalities : Aminoaciduria (in some patients); Increased serum transferrin;

Prefixed ID : #616084;

Details

Origin ID

616084;

UMLS CUI

C4015172;

Automatic exact mappings (from CISMeF team)
- Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome [ORDO Disease]
- sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay [DO Concept]
DO Cross reference
- sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay [DO Concept]
Genes related to phenotype
- Trna nucleotidyltransferase, cca-adding, 1 [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Brittle hair [HPO term]
- Cardiomyopathy [HPO term]
- Cerebral atrophy [HPO term]
- Childhood onset [HPO term]
- Communicating hydrocephalus [HPO term]
- Decreased circulating antibody level [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed gross motor development [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hypochromic microcytic anemia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Lactic acidosis [HPO term]
- Neonatal onset [HPO term]
- Nephrocalcinosis [HPO term]
- Periodic fever [HPO term]
- Rod-cone dystrophy [HPO term]
- Schistocytosis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sideroblastic anemia [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients