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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D015419
http://purl.bioontology.org/ontology/MESH/D015419
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|---|---|
| Preferred Name | Spastic Paraplegia, Hereditary |
| Definitions |
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)
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| Synonyms |
X-Linked, Spastic Paraplegia, Hereditary
Spastic Paraplegias, Hereditary
Hereditary Motor Sensory Neuropathy with Pyramidal Signs
Paraplegias, Hereditary Spastic
Hereditary, Spastic Paraplegia, Autosomal Dominant
Hereditary Autosomal Recessive Spastic Paraplegia
Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant
Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy
Spastic Paraplegia, Autosomal Recessive, Hereditary
HMSN V (Hereditary Motor and Sensory Neuropathy Type V)
Paraplegia, Hereditary Spastic
Hereditary, Spastic Paraplegia, X-Linked Recessive
Hereditary Spastic Paraplegias
Hereditary Motor And Sensory Neuropathy V
Type V Hereditary Motor and Sensory Neuropathy
Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia
Autosomal Recessive Spastic Paraplegia, Hereditary
HMSN Type V
Spastic Paraplegia 2
Spastic Paraplegia Type 5A, Recessive
Spastic Paraplegia Type 2
Spastic Paraplegia, Hereditary, Autosomal Recessive
Spastic Paraplegia, Hereditary, Autosomal Dominant
Spastic Paraplegia, Autosomal Dominant, Hereditary
Hereditary X-Linked Recessive Spastic Paraplegia
Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy
Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia
Hereditary X Linked Recessive Spastic Paraplegia
Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant
Hereditary Motor and Sensory Neuropathy 5
Autosomal Recessive Spastic Paraplegia
Autosomal Dominant Spastic Paraplegia Hereditary
Hereditary Autosomal Dominant Spastic Paraplegia
HMSN V
X Linked Recessive Hereditary Spastic Paraplegia
CMT with Pyramidal Features
Autosomal Dominant Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia, Autosomal Recessive
Spastic Paraplegia, X-Linked Recessive, Hereditary
Spastic Paraplegia, Hereditary, X-Linked Recessive
Autosomal Recessive Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia
X-linked Recessive Hereditary Spastic Paraplegia
HMSN 5
Type V, HMSN
Hereditary Motor-Sensory Neuropathy with Pyramidal Signs
Paraplegia, Spastic, Hereditary
Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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) |
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| altLabel |
X-Linked, Spastic Paraplegia, Hereditary
Spastic Paraplegias, Hereditary
Hereditary Motor Sensory Neuropathy with Pyramidal Signs
Paraplegias, Hereditary Spastic
Hereditary, Spastic Paraplegia, Autosomal Dominant
Hereditary Autosomal Recessive Spastic Paraplegia
Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant
Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy
Spastic Paraplegia, Autosomal Recessive, Hereditary
HMSN V (Hereditary Motor and Sensory Neuropathy Type V)
Paraplegia, Hereditary Spastic
Hereditary, Spastic Paraplegia, X-Linked Recessive
Hereditary Spastic Paraplegias
Hereditary Motor And Sensory Neuropathy V
Type V Hereditary Motor and Sensory Neuropathy
Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia
Autosomal Recessive Spastic Paraplegia, Hereditary
HMSN Type V
Spastic Paraplegia 2
Spastic Paraplegia Type 5A, Recessive
Spastic Paraplegia Type 2
Spastic Paraplegia, Hereditary, Autosomal Recessive
Spastic Paraplegia, Hereditary, Autosomal Dominant
Spastic Paraplegia, Autosomal Dominant, Hereditary
Hereditary X-Linked Recessive Spastic Paraplegia
Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy
Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia
Hereditary X Linked Recessive Spastic Paraplegia
Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant
Hereditary Motor and Sensory Neuropathy 5
Autosomal Recessive Spastic Paraplegia
Autosomal Dominant Spastic Paraplegia Hereditary
Hereditary Autosomal Dominant Spastic Paraplegia
HMSN V
X Linked Recessive Hereditary Spastic Paraplegia
CMT with Pyramidal Features
Autosomal Dominant Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia, Autosomal Recessive
Spastic Paraplegia, X-Linked Recessive, Hereditary
Spastic Paraplegia, Hereditary, X-Linked Recessive
Autosomal Recessive Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia
X-linked Recessive Hereditary Spastic Paraplegia
HMSN 5
Type V, HMSN
Hereditary Motor-Sensory Neuropathy with Pyramidal Signs
Paraplegia, Spastic, Hereditary
Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant
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| prefLabel | Spastic Paraplegia, Hereditary
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| Machine permutation | 1991; see NEUROPATHIES, HEREDITARY MOTOR AND SENSORY 1989-1990
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| HN | 1991(1989)
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| Mapped from |
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| type | |
| tui | T047
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| TERMUI |
T372620
T045536
T045535
T842486
T371600
T371546
T371541
T371569
T782701
T371596
T001143091
T811901
T371557
T782704
T371597
T045534
T371554
T371599
T825141
T782703
T371553
T782702
T842487
T371568
T001143092
T825140
T372621
T842488
T371539
T371552
T371598
T371570
T371556
T371555
T045537
T371545
T371601
T371571
T371540
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| TH |
OMIM (2013)
NLM (2000)
NLM (2012)
UNK (19XX)
GHR (2014)
NLM (1989)
ORD (2010)
NLM (2025)
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| MMR | 20240809
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| notation | D015419
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| Semantic type UMLS property | |
| Inverse of AQ |
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| DX | 19910101
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| cui |
C0751604
C0751603
C0751605
C0037773
C0751602
C4721916
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| DC | 1
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| MN |
C16.320.400.375.820
C10.500.300.820
C10.668.829.800.300.820
C16.131.666.300.820
C10.574.500.495.820
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| AN | coordinate with GENES, DOMINANT or GENES, RECESSIVE if discussed
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| AQL | BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
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| MDA | 19990101
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |