Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Preferred Label : Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome;

Symbol : HHHS;

CISMeF acronym : HHH; HHHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hhh syndrome; Ornithine translocase deficiency; HHH;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 25 (mitochondrial carrier, ornithine transporter), member 15 gene (SLC25A15, 603861.0001);

Laboratory abnormalities : Hyperornithinemia; Hyperammonemia; Homocitrullinuria;

Prefixed ID : #238970;

Details

Origin ID

238970;

UMLS CUI

C0268540;

Automatic exact mappings (from CISMeF team)
- HHH syndrome [MedDRA LLT]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [MedDRA LLT]
- Ornithine translocase deficiency [MedDRA LLT]
- Triple H syndrome [MedDRA LLT]
- hyperornithinemia hyperammonemia homocitrullinuria [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- HHH syndrome [MeSH concept]
- HHH syndrome [MeSH Supplementary Concept]
- Hyperornithinaemia-hyperammonaemia-homocitrullinuria [ICD-11 More detail]
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome [NCIt concept]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [ORDO Disease]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) [SNOMED CT concept]
- hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [SNOMED Notion]
- ornithine translocase deficiency [Disease (Nov.)]
- ornithine translocase deficiency [DO Concept]
DO Cross reference
- ornithine translocase deficiency [DO Concept]
Genes related to phenotype
- Solute carrier family 25 (mitochondrial carrier, ornithine transporter), member 15 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Acute encephalopathy [HPO term]
- Acute hepatitis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral cortical atrophy [HPO term]
- Chorioretinal atrophy [HPO term]
- Chorioretinal thinning [HPO term]
- Clonus [HPO term]
- Coma [HPO term]
- Confusion [HPO term]
- Decreased liver function [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Epilepsy [HPO term]
- Episodic vomiting [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Generalized myoclonic seizure [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hyperammonemia [HPO term]
- Hyperornithinemia [HPO term]
- Hyperreflexia [HPO term]
- Hypopigmentation of the fundus [HPO term]
- Hypotonia [HPO term]
- Impaired vibratory sensation [HPO term]
- Intellectual disability [HPO term]
- Lethargy [HPO term]
- Liver dysfunction [HPO term]
- Morphological abnormality of the pyramidal tract [HPO term]
- Poor coordination [HPO term]
- Protein avoidance [HPO term]
- Psychomotor retardation [HPO term]
- Retinal depigmentation [HPO term]
- Spastic paraparesis [HPO term]
- Spasticity [HPO term]
- Specific learning disability [HPO term]
ORDO concept(s)
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- HHH syndrome [MeSH Supplementary Concept]
- HHH syndrome [MeSH concept]
- HHH syndrome [MedDRA LLT]
- Hyperornithinaemia-hyperammonaemia-homocitrullinuria [ICD-11 More detail]
- Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome [MedDRA Preferred Term]
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome [NCIt concept]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [ORDO Disease]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [MedDRA LLT]
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) [SNOMED CT concept]
- Ornithine translocase deficiency [MedDRA LLT]
- Triple H syndrome [MedDRA LLT]
- hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [SNOMED Notion]
- ornithine translocase deficiency [DO Concept]
- ornithine translocase deficiency [Disease (Nov.)]

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