Aica-ribosuria due to atic deficiency

Preferred Label : Aica-ribosuria due to atic deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aicar transformylase/imp cyclohydrolase deficiency; Atic deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the AICAR formyltransferase/IMP cyclohydrolase gene (ATIC, 601731.0001);

Laboratory abnormalities : Deficient fibroblast AICAR-TF activity; Positive urinary Bratton-Marshall test; Elevated urinary and CSF 5-amino-4-imidazolecarboxyamide (AICA-riboside); Elevated erythrocyte AICAR (ZMP);

Prefixed ID : #608688;

Details

Origin ID

608688;

UMLS CUI

C1837530;

Currated CISMeF NLP mapping
- 5-amino-4-imidazole carboxamide ribosiduria (disorder) [SNOMED CT concept]
- AICA ribosiduria [Disease (Nov.)]
- AICA-ribosiduria [ORDO Disease]
- AICAR transformylase deficiency [ICD-11 More detail]
- AICAR transformylase inosine monophosphate cyclohydrolase deficiency [MeSH Supplementary Concept]
- AICAR transformylase inosine monophosphate cyclohydrolase deficiency [MeSH concept]
- Deficiency of inosine monophosphate cyclohydrolase (disorder) [SNOMED CT concept]
Genes related to phenotype
- 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the skin [HPO term]
- Anteverted nares [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Clitoral hypertrophy [HPO term]
- Congenital blindness [HPO term]
- Frontal bossing [HPO term]
- Fused labia minora [HPO term]
- Generalized hypotonia [HPO term]
- High nasal bridge [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, profound [HPO term]
- Low-set ears [HPO term]
- Optic atrophy [HPO term]
- Prominent forehead [HPO term]
- Prominent nasal bridge [HPO term]
- Seizure [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- AICA-ribosiduria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 5-amino-4-imidazole carboxamide ribosiduria (disorder) [SNOMED CT concept]
- AICA-ribosiduria [ORDO Disease]
- AICAR transformylase inosine monophosphate cyclohydrolase deficiency [MeSH Supplementary Concept]
- AICAR transformylase inosine monophosphate cyclohydrolase deficiency [MeSH concept]

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