spastic paraplegia, hereditary

Preferred Label : spastic paraplegia, hereditary;

MeSH definition : A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8);

MeSH synonym : paraplegia, spastic, hereditary; paraplegias, hereditary spastic; hereditary spastic paraplegia; paraplegia, hereditary spastic; spastic paraplegias, hereditary; hereditary spastic paraplegias; hypertrophic motor-sensory neuropathy-spastic paraplegia; hypertrophic motor sensory neuropathy spastic paraplegia; spastic paraplegia-hypertrophic motor-sensory neuropathy; spastic paraplegia hypertrophic motor sensory neuropathy;

CISMeF synonym : hereditary motor-sensory neuropathy with pyramidal signs;

CISMeF acronym : HSP;

MeSH hyponym : hereditary X-Linked recessive spastic paraplegia; hereditary autosomal dominant spastic paraplegia; X-Linked, spastic paraplegia, hereditary; autosomal recessive hereditary spastic paraplegia; Hereditary X Linked Recessive Spastic Paraplegia; Spastic Paraplegia 2; X-linked Recessive Hereditary Spastic Paraplegia; Spastic Paraplegia, Hereditary, X-Linked Recessive; Spastic Paraplegia, X-Linked Recessive, Hereditary; X Linked Recessive Hereditary Spastic Paraplegia; Hereditary, Spastic Paraplegia, X-Linked Recessive; Spastic Paraplegia Type 2; Spastic Paraplegia, Hereditary, Autosomal Recessive; Hereditary Spastic Paraplegia, Autosomal Recessive; Spastic Paraplegia, Autosomal Recessive, Hereditary; Autosomal Recessive Spastic Paraplegia, Hereditary; Hereditary Autosomal Recessive Spastic Paraplegia; Autosomal Dominant Spastic Paraplegia Hereditary; Spastic Paraplegia, Hereditary, Autosomal Dominant; Hereditary, Spastic Paraplegia, Autosomal Dominant; Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant; Spastic Paraplegia, Autosomal Dominant, Hereditary; Autosomal Dominant Hereditary Spastic Paraplegia; Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant; Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant; Hereditary Motor Sensory Neuropathy with Pyramidal Signs; HMSN V (Hereditary Motor and Sensory Neuropathy Type V); Type V Hereditary Motor and Sensory Neuropathy; CMT with Pyramidal Features; Hereditary Motor and Sensory Neuropathy 5; Hereditary Motor And Sensory Neuropathy V; HMSN V; HMSN Type V; Type V, HMSN; HMSN 5;

MeSH annotation : coord with GENES, DOMINANT or GENES, RECESSIVE if discussed; coordinate with GENES, DOMINANT or GENES, RECESSIVE if discussed;

Wikipedia link : https://en.wikipedia.org/wiki/Hsp;

Details

Origin ID

D015419;

UMLS CUI

C0037773;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Grade 5 Cranial Nerve XI Neuropathy, CTCAE [NCIt concept]
- HSP90B2P wt Allele [NCIt concept]
- Heat Shock Protein [NCIt concept]
- Henoch-Schönlein Purpura [NCIt concept]
- Hypertrophic neuropathy of dejerine-sottas [OMIM Phenotype]
- Spastic paraplegia type 2 [ORDO Disease]
- hereditary spastic paraplegia 2 [DO Concept]
Currated CISMeF NLP mapping
- Hereditary Spastic Paraplegia [NCIt concept]
- Hereditary motor and sensory neuropathy V [OMIM Phenotype]
- Hereditary motor and sensory neuropathy type 5 [ORDO Disease]
- Hereditary motor and sensory neuropathy type 5 (disorder) [SNOMED CT concept]
- Hereditary motor or sensory neuropathy type 5 [ICD-11 More detail]
- Hereditary sensory-motor neuropathy, type V (disorder) [SNOMED CT concept]
- Hereditary spastic paraplegia [ORDO Disease]
- Hereditary spastic paraplegia [PASCAL descriptor]
- Hereditary spastic paraplegia [ICD-10 Sub-category]
- Hereditary spastic paraplegia [ICD-9 code]
- Hereditary spastic paraplegia [ICD-11 Subcategory]
- Hereditary spastic paraplegia [ICD-10 Sub-category (who)]
- Hereditary spastic paraplegia [MedDRA Preferred Term]
- Hereditary spastic paraplegia (disorder) [SNOMED CT concept]
- Spastic diplegic cerebral palsy [ICD-10 Sub-category]
- hereditary sensory-motor neuropathy, type v [SNOMED Notion]
- hereditary spastic paraplegia [DO Concept]
- hereditary spastic paraplegia [Disease (Nov.)]
- hereditary spastic paraplegia [SNOMED Notion]
DO Cross reference
- hereditary spastic paraplegia [DO Concept]
Manual BTNT mappings - CISMeF
- Complex hereditary spastic paraplegia [ORDO Disease]
- Pure hereditary spastic paraplegia [ORDO Disease]
- Spastic paraplegia-nephritis-deafness syndrome [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Autosomal dominant hereditary axonal motor and sensory neuropathy [ORDO Disease]
- Genetic neurodegenerative disease [ORDO Disease]
- Mitochondrial disease with eye involvement [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
- Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly [ORDO Disease]
Record concept(s)
- Hereditary Motor-Sensory Neuropathy with Pyramidal Signs [MeSH concept]
- X-Linked, spastic paraplegia, hereditary [MeSH concept]
- autosomal recessive hereditary spastic paraplegia [MeSH concept]
- hereditary X-Linked recessive spastic paraplegia [MeSH concept]
- hereditary autosomal dominant spastic paraplegia [MeSH concept]
- spastic paraplegia, hereditary [MeSH concept]
Related MeSH Supplementary Concept(s)
- Fitzsimmons-Guilbert syndrome [MeSH Supplementary Concept]
- Fitzsimmons-McLachlan-Gilbert syndrome [MeSH Supplementary Concept]
- MASA (Mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome [MeSH Supplementary Concept]
- MAST syndrome [MeSH Supplementary Concept]
- amyotrophic dystonic paraplegia [MeSH Supplementary Concept]
- arena syndrome [MeSH Supplementary Concept]
- ataxia, spastic, 1, autosomal dominant [MeSH Supplementary Concept]
- ataxia, spastic, 2, autosomal recessive [MeSH Supplementary Concept]
- ataxia, spastic, 3, autosomal recessive [MeSH Supplementary Concept]
- bahemuka brown syndrome [MeSH Supplementary Concept]
- costeff optic atrophy syndrome [MeSH Supplementary Concept]
- fitzsimmons walson mellor syndrome [MeSH Supplementary Concept]
- hereditary spastic paralysis, infantile onset ascending [MeSH Supplementary Concept]
- leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia [MeSH Supplementary Concept]
- limb defects, distal transverse, with mental retardation and spasticity [MeSH Supplementary Concept]
- mental retardation spasticity ectrodactyly [MeSH Supplementary Concept]
- nakamura osame syndrome [MeSH Supplementary Concept]
- roy maroteaux kremp syndrome [MeSH Supplementary Concept]
- spastic Paraplegia-50, autosomal recessive [MeSH Supplementary Concept]
- spastic diplegia infantile type [MeSH Supplementary Concept]
- spastic paraplegia 10, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 11, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 12, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 13, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 14, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 15, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 16, X-linked [MeSH Supplementary Concept]
- spastic paraplegia 17 [MeSH Supplementary Concept]
- spastic paraplegia 18, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 19, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 2, X-linked [MeSH Supplementary Concept]
- spastic paraplegia 20, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 23 [MeSH Supplementary Concept]
- spastic paraplegia 24 [MeSH Supplementary Concept]
- spastic paraplegia 25, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 26, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 27, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 29, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 3, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 31, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 32, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 33, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 34, X-Linked [MeSH Supplementary Concept]
- spastic paraplegia 36, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 37, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 38, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 39, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 4, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 42, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 44, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 5a, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 6, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 7, autosomal recessive [MeSH Supplementary Concept]
- spastic paraplegia 9, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia and evans syndrome [MeSH Supplementary Concept]
- spastic paraplegia epilepsy mental retardation [MeSH Supplementary Concept]
- spastic paraplegia neuropathy poikiloderma [MeSH Supplementary Concept]
- spastic paraplegia type 4 [MeSH Supplementary Concept]
- spastic paraplegia type 5A, recessive [MeSH Supplementary Concept]
- spastic paraplegia type 5B, recessive [MeSH Supplementary Concept]
- spastic paraplegia type 7 [MeSH Supplementary Concept]
- spastic paraplegia type 8 [MeSH Supplementary Concept]
- spastic paraplegia with associated extrapyramidal signs [MeSH Supplementary Concept]
- spastic paraplegia with kallmann syndrome [MeSH Supplementary Concept]
- spastic paraplegia with myoclonic epilepsy [MeSH Supplementary Concept]
- spastic paraplegia with precocious puberty [MeSH Supplementary Concept]
- spastic paraplegia, optic atrophy, and dementia [MeSH Supplementary Concept]
- spastic paraplegia, optic atrophy, microcephaly, and xy sex reversal [MeSH Supplementary Concept]
- spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy [MeSH Supplementary Concept]
- volcke soekarman syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary Spastic Paraplegia [NCIt concept]
- Hereditary motor and sensory neuropathy V [OMIM Phenotype]
- Hereditary motor and sensory neuropathy type 5 [ORDO Disease]
- Hereditary sensory-motor neuropathy, type V (disorder) [SNOMED CT concept]
- Hereditary spastic paraplegia [ICD-9 code]
- Hereditary spastic paraplegia [MedDRA Preferred Term]
- Hereditary spastic paraplegia [ICD-10 Sub-category]
- Hereditary spastic paraplegia [ICD-10 Sub-category (who)]
- Hereditary spastic paraplegia [ICD-11 Subcategory]
- Hereditary spastic paraplegia (disorder) [SNOMED CT concept]
- X-linked hereditary spastic paraplegia [ICD-11 Sub-sub category]
- hereditary sensory-motor neuropathy, type v [SNOMED Notion]
- hereditary spastic paraplegia [DO Concept]
- hereditary spastic paraplegia [SNOMED Notion]
Validated automatic mappings to BTNT
- Autosomal dominant hereditary spastic paraplegia [ICD-11 Sub-sub category]
- Autosomal dominant hereditary spastic paraplegia (disorder) [SNOMED CT concept]
- Autosomal recessive hereditary spastic paraplegia [ICD-11 Sub-sub category]
- X-linked hereditary spastic paraplegia [ICD-11 Sub-sub category]
- X-linked hereditary spastic paraplegia (disorder) [SNOMED CT concept]
- X-linked spastic paraplegia type 2 (disorder) [SNOMED CT concept]

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