Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive

Preferred Label : Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive;

Symbol : HSNSP;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chaperonin-containing t-complex peptide-1 subunit 5 gene (CCT5, 610150.0001);

Laboratory abnormalities : Decreased plasma apolipoprotein B (APOB, 107730); Decreased plasma triglycerides; Decreased plasma total cholesterol;

Prefixed ID : #256840;

Détails

Origin ID

256840;

UMLS CUI

C1850395;

Currated CISMeF NLP mapping
- Mutilating hereditary sensory neuropathy with spastic paraplegia [ORDO Disease]
- neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [MeSH Supplementary Concept]
- neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [MeSH concept]
Genes related to phenotype
- Chaperonin containing t-complex polypeptide 1, subunit 5 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Acral ulceration [HPO term]
- Atrophy of the spinal cord [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Childhood onset [HPO term]
- Clonus [HPO term]
- Decreased amplitude of sensory action potentials [HPO term]
- Decreased circulating apolipoprotein B concentration [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Distal amyotrophy [HPO term]
- Distal limb muscle atrophy due to peripheral neuropathy [HPO term]
- Distal sensation loss [HPO term]
- Distal sensory impairment [HPO term]
- Distal sensory impairment of all modalities [HPO term]
- Distal sensory loss of all modalities [HPO term]
- Foot osteomyelitis [HPO term]
- Hyperreflexia [HPO term]
- Hypotriglyceridemia [HPO term]
- Lower limb spasticity [HPO term]
- Normal or mildly decreased motor nerve conduction velocity (NCV) [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Peripheral neuropathy, mild [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- distal ulceration and osteomyelitis leading to autoamputation [HPO term]
ORDO concept(s)
- Mutilating hereditary sensory neuropathy with spastic paraplegia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mutilating hereditary sensory neuropathy with spastic paraplegia [ORDO Disease]
- neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [MeSH Supplementary Concept]
- neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive [MeSH concept]

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