MCID: NRP014
MIFTS: 33

Neuropathy, Hereditary Sensory, with Spastic Paraplegia

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuropathy, Hereditary Sensory, with Spastic Paraplegia

MalaCards integrated aliases for Neuropathy, Hereditary Sensory, with Spastic Paraplegia:

Name: Neuropathy, Hereditary Sensory, with Spastic Paraplegia 54 13
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive 71 29
Hereditary Sensory and Autonomic Neuropathy with Spastic Paraplegia 56
Spastic Paraplegia, Hereditary 42
Hsan with Spastic Paraplegia 56
Hsnsp 71

Characteristics:

Orphanet epidemiological data:

56
hereditary sensory and autonomic neuropathy with spastic paraplegia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood (infancy to 5 years)
spasticity is slowly progressive
sensory loss is rapidly progressive and severe


HPO:

32
neuropathy, hereditary sensory, with spastic paraplegia:
Onset and clinical course infantile onset juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 256840
Orphanet 56 ORPHA139578
UMLS via Orphanet 70 C1850395
ICD10 via Orphanet 34 G60.8
MedGen 40 C1850395
MeSH 42 D015419

Summaries for Neuropathy, Hereditary Sensory, with Spastic Paraplegia

UniProtKB/Swiss-Prot : 71 Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive: A disease characterized by spastic paraplegia and progressive distal sensory neuropathy leading to mutilating ulcerations of the upper and lower limbs.

MalaCards based summary : Neuropathy, Hereditary Sensory, with Spastic Paraplegia, also known as neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive, is related to hereditary spastic paraplegia and spastic paraplegia 7, autosomal recessive, and has symptoms including distal sensory impairment, spastic paraplegia and clonus. An important gene associated with Neuropathy, Hereditary Sensory, with Spastic Paraplegia is CCT5 (Chaperonin Containing TCP1 Subunit 5). The drugs Acetylcholine and Botulinum Toxins have been mentioned in the context of this disorder. Affiliated tissues include spinal cord.

Description from OMIM: 256840

Related Diseases for Neuropathy, Hereditary Sensory, with Spastic Paraplegia

Diseases in the Neuropathy Sensory Spastic Paraplegia family:

Neuropathy, Hereditary Sensory, with Spastic Paraplegia Autosomal Recessive Sensory Neuropathy with Spastic Paraplegia

Diseases related to Neuropathy, Hereditary Sensory, with Spastic Paraplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
id Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 11.6
2 spastic paraplegia 7, autosomal recessive 11.0
3 troyer syndrome 10.9
4 paraplegia 10.4
5 spasticity 10.2
6 hereditary ataxia 10.0
7 ataxia 9.8
8 decubitus ulcer 9.7 CCT5 KIF1A
9 isodicentric 15 9.6 KIF1A KY
10 febrile seizures, familial, 3b 9.6 CCT5 KIF1A
11 dementia, familial danish 9.6 KIF1A KY
12 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 9.5 KIF1A KY
13 human venous malformation 9.2 KIF1A KY
14 autoinflammation, panniculitis, and dermatosis syndrome 9.0 CCT5 KIF1A KY

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Sensory, with Spastic Paraplegia:



Diseases related to Neuropathy, Hereditary Sensory, with Spastic Paraplegia

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory, with Spastic Paraplegia

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Peripheral Nervous System:
hyperreflexia
spastic paraplegia
pyramidal signs
lower limb spasticity
clonus
more
Skeletal- Hands:
hand deformities
distal ulceration and osteomyelitis leading to autoamputation

Laboratory- Abnormalities:
decreased plasma apolipoprotein b (apob, )
decreased plasma triglycerides
decreased plasma total cholesterol

Skeletal- Feet:
foot deformities
distal ulceration and osteomyelitis leading to autoamputation

Skeletal- Limbs:
distal ulceration and osteomyelitis leading to autoamputation


Clinical features from OMIM:

256840

Human phenotypes related to Neuropathy, Hereditary Sensory, with Spastic Paraplegia:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 distal sensory impairment 32 HP:0002936
2 spastic paraplegia 32 HP:0001258
3 clonus 32 HP:0002169
4 peripheral axonal neuropathy 32 HP:0003477
5 spastic gait 32 HP:0002064
6 hypobetalipoproteinemia 32 HP:0003563
7 distal amyotrophy 32 HP:0003693
8 babinski sign 32 HP:0003487
9 distal sensory loss of all modalities 32 HP:0006984
10 hypocholesterolemia 32 HP:0003146
11 abnormality of the foot 32 HP:0001760
12 decreased motor nerve conduction velocity 32 HP:0003431
13 atrophy of the spinal cord 32 HP:0006827
14 acral ulceration and osteomyelitis leading to autoamputation of digits 32 HP:0001226

Drugs & Therapeutics for Neuropathy, Hereditary Sensory, with Spastic Paraplegia

Drugs for Neuropathy, Hereditary Sensory, with Spastic Paraplegia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 2, Phase 3 51-84-3 187
2 Botulinum Toxins Phase 2, Phase 3
3 Cholinergic Agents Phase 2, Phase 3
4 Neurotransmitter Agents Phase 2, Phase 3
5
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
6
Resveratrol Experimental, Investigational Phase 2 501-36-0 445154
7 Analgesics Phase 2
8 Analgesics, Non-Narcotic Phase 2
9 Anticholesteremic Agents Phase 2
10 Anti-Inflammatory Agents Phase 2
11 Anti-Inflammatory Agents, Non-Steroidal Phase 2
12 Antimetabolites Phase 2
13 Antineoplastic Agents, Phytogenic Phase 2
14 Antioxidants Phase 2
15 Antirheumatic Agents Phase 2
16 Atorvastatin Calcium Phase 2 134523-03-8
17 Calcium, Dietary Phase 2
18 Cathartics Phase 2
19 Gastrointestinal Agents Phase 2
20 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
21 Hypolipidemic Agents Phase 2
22 Laxatives Phase 2
23 Lipid Regulating Agents Phase 2
24 Peripheral Nervous System Agents Phase 2
25 Platelet Aggregation Inhibitors Phase 2
26 Protective Agents Phase 2
27
Choline Approved, Nutraceutical 62-49-7 305
28 N-Methylaspartate
29 Aspartic Acid Nutraceutical
30
Creatine Nutraceutical 57-00-1 586

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Active, not recruiting NCT02604186 Phase 2, Phase 3
2 Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5 Active, not recruiting NCT02314208 Phase 2 Xenbilox;Tahor
3 Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis Completed NCT00023075
4 Genetic and Physical Study of Childhood Nerve and Muscle Disorders Recruiting NCT01568658
5 Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31 Recruiting NCT02859428
6 The Pre-SPG4 Study Recruiting NCT03206190
7 Studying Cognition in SPG4 Recruiting NCT03104088
8 Phenotype, Genotype & Biomarkers in ALS and Related Disorders Recruiting NCT02327845
9 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
10 A Patient Centric Motor Neuron Disease Activities of Daily Living Scale Enrolling by invitation NCT02852278

Search NIH Clinical Center for Neuropathy, Hereditary Sensory, with Spastic Paraplegia

Cochrane evidence based reviews: spastic paraplegia, hereditary

Genetic Tests for Neuropathy, Hereditary Sensory, with Spastic Paraplegia

Genetic tests related to Neuropathy, Hereditary Sensory, with Spastic Paraplegia:

id Genetic test Affiliating Genes
1 Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive 29

Anatomical Context for Neuropathy, Hereditary Sensory, with Spastic Paraplegia

MalaCards organs/tissues related to Neuropathy, Hereditary Sensory, with Spastic Paraplegia:

39
Spinal Cord

Publications for Neuropathy, Hereditary Sensory, with Spastic Paraplegia

Variations for Neuropathy, Hereditary Sensory, with Spastic Paraplegia

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary Sensory, with Spastic Paraplegia:

71
id Symbol AA change Variation ID SNP ID
1 CCT5 p.His147Arg VAR_030658 rs118203986

ClinVar genetic disease variations for Neuropathy, Hereditary Sensory, with Spastic Paraplegia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CCT5 NM_012073.4(CCT5): c.440A> G (p.His147Arg) single nucleotide variant Pathogenic/Likely pathogenic rs118203986 GRCh37 Chromosome 5, 10256175: 10256175
2 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh37 Chromosome 2, 241727625: 241727625
3 KY NM_178554.4(KY): c.51_52insTATCGACATGTGCTGTATCTATCGACAT (p.Val18Tyrfs) insertion Pathogenic rs1085307110 GRCh37 Chromosome 3, 134369751: 134369752

Expression for Neuropathy, Hereditary Sensory, with Spastic Paraplegia

Search GEO for disease gene expression data for Neuropathy, Hereditary Sensory, with Spastic Paraplegia.

Pathways for Neuropathy, Hereditary Sensory, with Spastic Paraplegia

GO Terms for Neuropathy, Hereditary Sensory, with Spastic Paraplegia

Cellular components related to Neuropathy, Hereditary Sensory, with Spastic Paraplegia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 microtubule GO:0005874 8.96 CCT5 KIF1A
2 cytoskeleton GO:0005856 8.8 CCT5 KIF1A KY

Sources for Neuropathy, Hereditary Sensory, with Spastic Paraplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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