Hyperprolinemia, type I

Preferred Label : Hyperprolinemia, type I;

Symbol : HYRPRO1;

CISMeF acronym : HPI; HYRPRO1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Proline oxidase deficiency; HPI;

Description : Phang et al. (2001) noted that prospective studies of HPI probands identified through newborn screening as well as reports of several families have suggested that it is a metabolic disorder not clearly associated with clinical manifestations. Phang et al. (2001) concluded that HPI is a relatively benign condition in most individuals under most circumstances. However, other reports have suggested that some patients have a severe phenotype with neurologic manifestations, including epilepsy and mental retardation (Jacquet et al., 2003).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the proline dehydrogenase gene (PRODH, 606810.0001);

Laboratory abnormalities : Hyperprolinemia (5-10 times normal); Aminoaciduria; Prolinuria; Hydroxyprolinuria; Glycinuria; Proline oxidase deficiency;

Prefixed ID : #239500;

Details

Origin ID

239500;

UMLS CUI

C0268529;

Automatic exact mappings (from CISMeF team)
- allene oxide synthase activity [GO term]
- hydroperoxide dehydratase activity [GO term]
- hyperprolinemia type 1 [DO Concept]
Currated CISMeF NLP mapping
- Hyperprolinaemia type 1 [ICD-11 More detail]
- Hyperprolinaemia type I [MedDRA LLT]
- Hyperprolinemia type 1 [ORDO Disease]
- Hyperprolinemia type I [MedDRA LLT]
- Proline dehydrogenase deficiency (disorder) [SNOMED CT concept]
- hyperprolinaemia type I [Disease (Nov.)]
- proline dehydrogenase deficiency [SNOMED Notion]
DO Cross reference
- hyperprolinemia type 1 [DO Concept]
Genes related to phenotype
- Proline dehydrogenase 1 [OMIM gene]
HPO term(s)
- Abnormality of renal physiology [HPO term]
- Aggressive behavior [HPO term]
- Ataxia [HPO term]
- Autistic behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed speech and language development [HPO term]
- EEG abnormality [HPO term]
- Epilepsy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hydroxyprolinuria [HPO term]
- Hyperactivity [HPO term]
- Hyperglycinuria [HPO term]
- Hyperprolinemia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Prolinuria [HPO term]
- Schizophrenia [HPO term]
- Seizure [HPO term]
- Status epilepticus [HPO term]
ORDO concept(s)
- Hyperprolinemia type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperprolinaemia type 1 [ICD-11 More detail]
- Hyperprolinaemia type I [MedDRA LLT]
- Hyperprolinemia type 1 [ORDO Disease]
- Hyperprolinemia type I [MedDRA LLT]
- Proline dehydrogenase deficiency (disorder) [SNOMED CT concept]
- hyperprolinaemia type I [Disease (Nov.)]
- proline dehydrogenase deficiency [SNOMED Notion]

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