Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1

Preferred Label : Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1;

Symbol : CAMRQ1;

CISMeF acronym : DES; CAMRQ1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebellar hypoplasia, vldlr-associated; Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1; DES; Cerebellar ataxia, congenital, and mental retardation, autosomal recessive; Dysequilibrium syndrome; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1;

Description : This form of autosomal recessive cerebellar ataxia is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia (Schurig et al., 1981; Glass et al., 2005). - Genetic Heterogeneity of CAMRQ;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the very low density lipoprotein receptor (VLDLR, 192977.0001);

Prefixed ID : #224050;

Details

Origin ID

224050;

UMLS CUI

C4551552;

Automatic exact mappings (from CISMeF team)
- DES Gene [NCIt concept]
- Delaware [NCIt concept]
- Desmin [NCIt concept]
- Dialysis Disequilibrium Syndrome [NCIt concept]
- Diethylstilbestrol [NCIt concept]
- desmin [ORDO Gene]
- diethylstilbestrol [MeSH Descriptor]
- electronic health records [MeSH Descriptor]
Currated CISMeF NLP mapping
- Disequilibrium syndrome [MedDRA LLT]
- Dysequilibrium syndrome [MeSH concept]
- Dysequilibrium syndrome (disorder) [SNOMED CT concept]
- Non-progressive cerebellar ataxia with intellectual disability [ORDO Disease]
- Non-progressive cerebellar ataxia with intellectual disability (disorder) [SNOMED CT concept]
- dysequilibrium syndrome [MeSH Supplementary Concept]
DO Cross reference
- cerebellar ataxia, mental retardation and dysequlibrium syndrome [DO Concept]
False automatic mappings
- Desmosine [NCIt concept]
- Germany [NCIt concept]
- dialysis disequilibrium syndrome [Disease (Nov.)]
Genes related to phenotype
- Very low density lipoprotein receptor [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad-based gait [HPO term]
- Cataract [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital onset [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Gait ataxia [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intention tremor [HPO term]
- Nonprogressive [HPO term]
- Pachygyria [HPO term]
- Pes planus [HPO term]
- Poor speech [HPO term]
- Psychomotor retardation [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Simplified gyral pattern [HPO term]
- Strabismus [HPO term]
- Truncal ataxia [HPO term]
ORDO concept(s)
- Dysequilibrium syndrome [ORDO Disease]
See also inter- (CISMeF)
- Dysequilibrium syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disequilibrium syndrome [MedDRA LLT]
- Dysequilibrium syndrome [ORDO Disease]
- Dysequilibrium syndrome [MeSH concept]
- Dysequilibrium syndrome (disorder) [SNOMED CT concept]
- dysequilibrium syndrome [MeSH Supplementary Concept]

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