Spastic paraplegia 78, autosomal recessive

Preferred Label : Spastic paraplegia 78, autosomal recessive;

Symbol : SPG78;

CISMeF acronym : SPG78;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATPase type 13A2 gene (ATP13A2, 610513.0009);

Prefixed ID : #617225;

Details

Origin ID

617225;

UMLS CUI

C5567893;

Automatic exact mappings (from CISMeF team)
- ATP13A2-related juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 78 [ORDO Disease]
Genes related to phenotype
- Atpase 13a2 [OMIM gene]
HPO term(s)
- Abnormal periventricular white matter morphology [HPO term]
- Abnormal pyramidal sign [HPO term]
- Adult onset [HPO term]
- Aggressive behavior [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bradykinesia [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral cortical atrophy [HPO term]
- Dementia [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Exodeviation [HPO term]
- Falls [HPO term]
- Gait ataxia [HPO term]
- Hallucinations [HPO term]
- Hyperreflexia [HPO term]
- Impaired tactile sensation [HPO term]
- Impaired vibratory sensation [HPO term]
- Mental deterioration [HPO term]
- Nystagmus [HPO term]
- Parkinsonism [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Resting tremor [HPO term]
- Spastic paraplegia [HPO term]
- Spastic tetraplegia [HPO term]
- Supranuclear gaze palsy [HPO term]
- Urinary urgency [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 78 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 78 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 78 (disorder) [SNOMED CT concept]

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