Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

Preferred Label : Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia;

Symbol : EAOH;

CISMeF acronym : AOA; AOA1; EAOH; EOCA-HA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ataxia-oculomotor apraxia syndrome; Ataxia-oculomotor apraxia 1; Ataxia-telangiectasia-like syndrome; Cerebellar ataxia, early-onset, with hypoalbuminemia; AOA; AOA1; EOCA-HA;

Included titles and symbols : Ataxia, adult-onset, with oculomotor apraxia;

Description : Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia (Moreira et al., 2001).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aprataxin gene (APTX, 606350.0001);

Laboratory abnormalities : Hypoalbuminemia (in 83%); Hypercholesterolemia (in 75%);

Prefixed ID : #208920;

Details

Origin ID

208920;

UMLS CUI

C1859598;

Automatic exact mappings (from CISMeF team)
- APTX wt Allele [NCIt concept]
- Ataxia oculomotor apraxia [ICD-11 More detail]
- aprataxin [ORDO Gene]
- aprataxin [HGNC gene]
Currated CISMeF NLP mapping
- Ataxia-Oculomotor Apraxia Type 1 [NCIt concept]
- Ataxia-oculomotor apraxia type 1 [ORDO Disease]
- Autosomal recessive ataxia with oculomotor apraxia type 1 [ICD-11 More detail]
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) [SNOMED CT concept]
- Early-onset ataxia with oculomotor apraxia and hypoalbuminaemia [ICD-11 More detail]
- Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MeSH concept]
- ataxia with oculomotor apraxia type 1 [DO Concept]
- early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MeSH Supplementary Concept]
DO Cross reference
- ataxia with oculomotor apraxia type 1 [DO Concept]
Genes related to phenotype
- Aprataxin [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Areflexia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration [HPO term]
- Cerebellar ataxia, severe [HPO term]
- Cerebellar atrophy [HPO term]
- Choreoathetosis [HPO term]
- Choreoathetosis, more frequent at disease onset [HPO term]
- Cognitive impairment [HPO term]
- Decreased number of large peripheral myelinated nerve fibers [HPO term]
- Dementia [HPO term]
- Distal amyotrophy [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Gait ataxia [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Hypercholesterolemia [HPO term]
- Hypoalbuminemia [HPO term]
- Hypometric saccades [HPO term]
- Hyporeflexia [HPO term]
- Juvenile onset [HPO term]
- Limb ataxia [HPO term]
- Mental deterioration [HPO term]
- Mental deterioration in a subset of patients [HPO term]
- Muscle weakness [HPO term]
- Nerve biopsy shows axonal degeneration [HPO term]
- Oculomotor apraxia [HPO term]
- Onset [HPO term]
- Peripheral axonal degeneration [HPO term]
- Pes cavus [HPO term]
- Progressive external ophthalmoplegia [HPO term]
- Scoliosis [HPO term]
- Tremor [HPO term]
- Truncal ataxia [HPO term]
ORDO concept(s)
- Ataxia-oculomotor apraxia type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia-Oculomotor Apraxia Type 1 [NCIt concept]
- Ataxia-oculomotor apraxia type 1 [ORDO Disease]
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) [SNOMED CT concept]
- Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MeSH concept]
- early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MeSH Supplementary Concept]

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