Spastic paraplegia 39, autosomal recessive

Preferred Label : Spastic paraplegia 39, autosomal recessive;

Symbol : SPG39;

CISMeF acronym : NTEMND; SPG39;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nte-related motor neuron disorder; NTEMND;

Description : The form of motor neuron disease designated spastic paraplegia-39 (SPG39) by Rainier et al. (2008) is an autosomal recessive progressive spastic paraplegia associated with distal upper and lower extremity wasting.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the patatin-like phospholipase domain-containing protein 6 (PNPLA6, 603197.0001);

Prefixed ID : #612020;

Details

Origin ID

612020;

UMLS CUI

C2677586;

Automatic exact mappings (from CISMeF team)
- patatin like phospholipase domain containing 6 [ORDO Gene]
- patatin like phospholipase domain containing 6 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 39 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 39 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 39 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 39 [DO Concept]
- spastic paraplegia 39, autosomal recessive [MeSH concept]
- spastic paraplegia 39, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 39 [DO Concept]
Genes related to phenotype
- Patatin-like phospholipase domain-containing protein 6 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Atrophy of the spinal cord [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Distal amyotrophy [HPO term]
- Distal lower limb muscle weakness [HPO term]
- Gait disturbance [HPO term]
- Hyperreflexia [HPO term]
- Progressive spastic paraplegia [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 39 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 39 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 39 (disorder) [SNOMED CT concept]
- spastic paraplegia 39, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 39, autosomal recessive [MeSH concept]

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