Behr syndrome - CISMeF

Preferred Label : Behr syndrome;

Symbol : BEHRS;

CISMeF acronym : BEHRS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Optic atrophy, infantile hereditary, with neurologic abnormalities;

Description : 'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation (Behr, 1909; Thomas et al., 1984). Type III 3-methylglutaconic aciduria (258501) shows a very similar clinical phenotype, with the addition of increased urinary 3-methyglutaconic acid. It is most common in individuals of Iraqi Jewish origin. However, Lerman-Sagie (1995) noted that this abnormal urinary pattern may not be picked up by routine organic acid analysis, suggesting that early reports of Behr syndrome with normal metabolic features may have actually been 3-methyglutaconic aciduria type III.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the OPA1 mitochondrial dynamin-like GTPase gene (OPA1, 605290.0003);

Laboratory abnormalities : Increased lactate in the cerebrospinal fluid; Reduced mitochondrial complex I activity in fibroblasts;

Prefixed ID : #210000;

Details

Origin ID

210000;

UMLS CUI

C0221061;

Automatic exact mappings (from CISMeF team)
- Behr syndrome (disorder) [Inactive SNOMED CT concept]
Currated CISMeF NLP mapping
- Abortive cerebellar ataxia (disorder) [Inactive SNOMED CT concept]
- Behr Syndrome [NCIt concept]
- Behr syndrome [PASCAL descriptor]
- Behr syndrome [DO Concept]
- Behr syndrome [MeSH concept]
- Behr syndrome [ORDO Disease]
- behr syndrome [MeSH Supplementary Concept]
DO Cross reference
- Behr syndrome [DO Concept]
Genes related to phenotype
- Opa1 mitochondrial dynamin-like gtpase [OMIM gene]
HPO term(s)
- Achilles tendon contracture [HPO term]
- Adductor longus contractures [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Dysmetria [HPO term]
- Gait disturbance [HPO term]
- Hamstring contractures [HPO term]
- Hyperreflexia [HPO term]
- Intellectual disability [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Progressive [HPO term]
- Progressive spasticity [HPO term]
- Progressive visual loss [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Behr syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Abortive cerebellar ataxia (disorder) [Inactive SNOMED CT concept]
- Behr Syndrome [NCIt concept]
- Behr syndrome [ORDO Disease]
- Behr syndrome [MeSH concept]
- Behr syndrome [PASCAL descriptor]
- Behr syndrome [DO Concept]
- Behr syndrome (disorder) [Inactive SNOMED CT concept]
- abortive cerebellar ataxia [SNOMED Notion]
- behr syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients