Gracile syndrome

Preferred Label : Gracile syndrome;

CISMeF acronym : FLNMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death; Fellman syndrome; Finnish lethal neonatal metabolic syndrome; Lactic acidosis, finnish, with hepatic hemosiderosis; FLNMS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene (BCS1L, 603647.0005);

Laboratory abnormalities : Lactic acidosis; High transferrin saturation; Low serum iron; Aminoaciduria; High serum ferritin;

Prefixed ID : #603358;

Details

Origin ID

603358;

UMLS CUI

C1864002;

Automatic exact mappings (from CISMeF team)
- BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [ORDO Gene]
- BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [HGNC gene]
- GRACILE - [Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death] syndrome [ICD-11 More detail]
- GRACILE syndrome [MedDRA Preferred Term]
- GRACILE syndrome [DO Concept]
Currated CISMeF NLP mapping
- GRACILE syndrome [Disease (Nov.)]
- GRACILE syndrome [ORDO Disease]
- Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (disorder) [SNOMED CT concept]
- finnish lethal neonatal metabolic syndrome [MeSH concept]
- finnish lethal neonatal metabolic syndrome [MeSH Supplementary Concept]
DO Cross reference
- GRACILE syndrome [DO Concept]
Genes related to phenotype
- Bcs1 homolog, ubiquinol-cytochrome C reductase complex chaperone [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholestasis [HPO term]
- Chronic lactic acidosis [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Increased serum iron [HPO term]
- Increased serum pyruvate [HPO term]
- Intrauterine growth retardation [HPO term]
- Neonatal hypotonia [HPO term]
ORDO concept(s)
- GRACILE syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GRACILE syndrome [ORDO Disease]
- GRACILE syndrome [Disease (Nov.)]
- GRACILE syndrome [MedDRA Preferred Term]
- GRACILE syndrome [DO Concept]
- Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (disorder) [SNOMED CT concept]
- finnish lethal neonatal metabolic syndrome [MeSH Supplementary Concept]
- finnish lethal neonatal metabolic syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients