HSNSP
MCID: NRP055
MIFTS: 26

Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive (HSNSP)

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, Autosomal Recessive:

Name: Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive 57 72 29 6
Neuropathy, Hereditary Sensory, with Spastic Paraplegia 57 13
Neuropathy, Sensory, with Spastic Paraplegia, Hereditary, Autosomal Recessive 39
Mutilating Hereditary Sensory Neuropathy with Spastic Paraplegia 58
Mutilating Hsan with Spastic Paraplegia 58
Hsnsp 72

Characteristics:

Orphanet epidemiological data:

58
mutilating hereditary sensory neuropathy with spastic paraplegia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 256840
MeSH 44 D015419
ICD10 via Orphanet 33 G60.8
UMLS via Orphanet 71 C1850395
Orphanet 58 ORPHA139578
MedGen 41 C1850395

Summaries for Neuropathy, Hereditary Sensory, with Spastic Paraplegia,...

UniProtKB/Swiss-Prot : 72 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, Autosomal Recessive, is also known as neuropathy, hereditary sensory, with spastic paraplegia. An important gene associated with Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive is CCT5 (Chaperonin Containing TCP1 Subunit 5). Affiliated tissues include spinal cord, and related phenotypes are gait disturbance and impaired pain sensation

More information from OMIM: 256840

Related Diseases for Neuropathy, Hereditary Sensory, with Spastic Paraplegia,...

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

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

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
2 impaired pain sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007328
3 distal sensory loss of all modalities 58 31 hallmark (90%) Very frequent (99-80%) HP:0006984
4 abnormal autonomic nervous system physiology 31 hallmark (90%) HP:0012332
5 clonus 58 31 frequent (33%) Frequent (79-30%) HP:0002169
6 decreased motor nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0003431
7 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
8 distal amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003693
9 abnormality of the spinal cord 58 31 frequent (33%) Frequent (79-30%) HP:0002143
10 progressive spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0007020
11 sensory axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003390
12 foot osteomyelitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001886
13 acral ulceration 31 occasional (7.5%) HP:0006121
14 spastic paraplegia 58 31 Very frequent (99-80%) HP:0001258
15 spasticity 58 Very frequent (99-80%)
16 hyperreflexia 58 Very frequent (99-80%)
17 dysautonomia 58 Very frequent (99-80%)
18 skin ulcer 58 Very frequent (99-80%)
19 peripheral neuropathy 58 Very frequent (99-80%)
20 hypocholesterolemia 31 HP:0003146
21 decreased ldl cholesterol concentration 31 HP:0003563
22 distal sensory impairment 31 HP:0002936
23 spastic gait 31 HP:0002064
24 peripheral axonal neuropathy 31 HP:0003477
25 atrophy of the spinal cord 31 HP:0006827
26 acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) 58 Occasional (29-5%)
27 abnormal foot morphology 31 HP:0001760

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
hyperreflexia
clonus
spastic paraplegia
babinski sign
lower limb spasticity
more
Skeletal Limbs:
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 Hands:
distal ulceration and osteomyelitis leading to autoamputation
hand deformities

Clinical features from OMIM®:

256840 (Updated 20-May-2021)

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

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

Genetic Tests for Neuropathy, Hereditary Sensory, with Spastic Paraplegia,...

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

# Genetic test Affiliating Genes
1 Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive 29 CCT5

Anatomical Context for Neuropathy, Hereditary Sensory, with Spastic Paraplegia,...

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

40
Spinal Cord

Publications for Neuropathy, Hereditary Sensory, with Spastic Paraplegia,...

Articles related to Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive:

# Title Authors PMID Year
1
Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia. 57 6
16399879 2006
2
Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1. 57
16333315 2006
3
Autosomal recessive hereditary sensory neuropathy with spastic paraplegia. 57
7922454 1994
4
Hereditary sensory neuropathy with spastic paraplegia. 57
218673 1979

Variations for Neuropathy, Hereditary Sensory, with Spastic Paraplegia,...

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

6 (show top 50) (show all 130)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCT5 NM_012073.5(CCT5):c.1388_1389del (p.Leu462_Ser463insTer) Microsatellite Pathogenic 1030216 GRCh37: 5:10263312-10263313
GRCh38: 5:10263200-10263201
2 CCT5 NM_012073.5(CCT5):c.166+8del Deletion Conflicting interpretations of pathogenicity 695832 rs773556943 GRCh37: 5:10254325-10254325
GRCh38: 5:10254213-10254213
3 CCT5 NM_012073.5(CCT5):c.954C>T (p.Asn318=) SNV Conflicting interpretations of pathogenicity 465410 rs150870419 GRCh37: 5:10260984-10260984
GRCh38: 5:10260872-10260872
4 CCT5 NM_012073.5(CCT5):c.1324A>G (p.Thr442Ala) SNV Uncertain significance 404413 rs759193876 GRCh37: 5:10263252-10263252
GRCh38: 5:10263140-10263140
5 CCT5 NM_012073.5(CCT5):c.1336T>C (p.Tyr446His) SNV Uncertain significance 465407 rs1554011822 GRCh37: 5:10263264-10263264
GRCh38: 5:10263152-10263152
6 CCT5 NM_012073.5(CCT5):c.*1126T>A SNV Uncertain significance 350287 rs375626550 GRCh37: 5:10266021-10266021
GRCh38: 5:10265909-10265909
7 CCT5 NM_012073.5(CCT5):c.677A>G (p.Lys226Arg) SNV Uncertain significance 350252 rs768757632 GRCh37: 5:10258369-10258369
GRCh38: 5:10258257-10258257
8 CCT5 NM_012073.5(CCT5):c.648C>G (p.Gly216=) SNV Uncertain significance 350251 rs754143874 GRCh37: 5:10258340-10258340
GRCh38: 5:10258228-10258228
9 CCT5 NM_012073.5(CCT5):c.*69C>T SNV Uncertain significance 350263 rs535827783 GRCh37: 5:10264964-10264964
GRCh38: 5:10264852-10264852
10 CCT5 NM_012073.5(CCT5):c.*420T>C SNV Uncertain significance 350272 rs755661384 GRCh37: 5:10265315-10265315
GRCh38: 5:10265203-10265203
11 CCT5 NM_012073.5(CCT5):c.*566C>T SNV Uncertain significance 350275 rs377154717 GRCh37: 5:10265461-10265461
GRCh38: 5:10265349-10265349
12 CCT5 NM_012073.5(CCT5):c.-48C>T SNV Uncertain significance 350244 rs574425461 GRCh37: 5:10250405-10250405
GRCh38: 5:10250293-10250293
13 CCT5 NM_012073.5(CCT5):c.*345T>C SNV Uncertain significance 350268 rs886059757 GRCh37: 5:10265240-10265240
GRCh38: 5:10265128-10265128
14 CCT5 NM_012073.5(CCT5):c.*25A>G SNV Uncertain significance 350261 rs886059755 GRCh37: 5:10264920-10264920
GRCh38: 5:10264808-10264808
15 CCT5 NM_012073.5(CCT5):c.1183A>G (p.Ile395Val) SNV Uncertain significance 350256 rs781378409 GRCh37: 5:10262596-10262596
GRCh38: 5:10262484-10262484
16 CCT5 NM_012073.5(CCT5):c.*841T>C SNV Uncertain significance 350279 rs180679435 GRCh37: 5:10265736-10265736
GRCh38: 5:10265624-10265624
17 CCT5 NM_012073.5(CCT5):c.*205T>C SNV Uncertain significance 350265 rs533788803 GRCh37: 5:10265100-10265100
GRCh38: 5:10264988-10264988
18 CCT5 NM_012073.5(CCT5):c.*1401G>A SNV Uncertain significance 350291 rs188649700 GRCh37: 5:10266296-10266296
GRCh38: 5:10266184-10266184
19 CCT5 NM_012073.5(CCT5):c.531-10T>G SNV Uncertain significance 350250 rs761866534 GRCh37: 5:10258213-10258213
GRCh38: 5:10258101-10258101
20 CCT5 NM_012073.5(CCT5):c.-59A>G SNV Uncertain significance 350243 rs748544536 GRCh37: 5:10250394-10250394
GRCh38: 5:10250282-10250282
21 CCT5 NM_012073.5(CCT5):c.1474G>C (p.Asp492His) SNV Uncertain significance 350260 rs749250007 GRCh37: 5:10263402-10263402
GRCh38: 5:10263290-10263290
22 CCT5 NM_012073.5(CCT5):c.*776T>C SNV Uncertain significance 350277 rs553660590 GRCh37: 5:10265671-10265671
GRCh38: 5:10265559-10265559
23 CCT5 NM_012073.5(CCT5):c.*1239C>G SNV Uncertain significance 350289 rs886059759 GRCh37: 5:10266134-10266134
GRCh38: 5:10266022-10266022
24 CCT5 NM_012073.5(CCT5):c.*347T>C SNV Uncertain significance 350269 rs774174590 GRCh37: 5:10265242-10265242
GRCh38: 5:10265130-10265130
25 CCT5 NM_012073.5(CCT5):c.918T>C (p.Phe306=) SNV Uncertain significance 903668 GRCh37: 5:10260948-10260948
GRCh38: 5:10260836-10260836
26 CCT5 NM_012073.5(CCT5):c.968G>A (p.Arg323His) SNV Uncertain significance 903669 GRCh37: 5:10260998-10260998
GRCh38: 5:10260886-10260886
27 CCT5 NM_012073.5(CCT5):c.994-13C>T SNV Uncertain significance 903670 GRCh37: 5:10261659-10261659
GRCh38: 5:10261547-10261547
28 CCT5 NM_012073.5(CCT5):c.1075G>A (p.Val359Ile) SNV Uncertain significance 903671 GRCh37: 5:10261753-10261753
GRCh38: 5:10261641-10261641
29 CCT5 NM_012073.5(CCT5):c.*386T>C SNV Uncertain significance 903755 GRCh37: 5:10265281-10265281
GRCh38: 5:10265169-10265169
30 CCT5 NM_012073.5(CCT5):c.*1174C>A SNV Uncertain significance 903834 GRCh37: 5:10266069-10266069
GRCh38: 5:10265957-10265957
31 CCT5 NM_012073.5(CCT5):c.*1257A>G SNV Uncertain significance 903835 GRCh37: 5:10266152-10266152
GRCh38: 5:10266040-10266040
32 CCT5 NM_012073.5(CCT5):c.*1289T>C SNV Uncertain significance 903836 GRCh37: 5:10266184-10266184
GRCh38: 5:10266072-10266072
33 CCT5 NM_012073.5(CCT5):c.*1294A>G SNV Uncertain significance 903837 GRCh37: 5:10266189-10266189
GRCh38: 5:10266077-10266077
34 CCT5 NM_012073.5(CCT5):c.-56C>T SNV Uncertain significance 905536 GRCh37: 5:10250397-10250397
GRCh38: 5:10250285-10250285
35 CCT5 NM_012073.5(CCT5):c.1120A>G (p.Ile374Val) SNV Uncertain significance 905597 GRCh37: 5:10261798-10261798
GRCh38: 5:10261686-10261686
36 CCT5 NM_012073.5(CCT5):c.1216T>G (p.Leu406Val) SNV Uncertain significance 905598 GRCh37: 5:10262629-10262629
GRCh38: 5:10262517-10262517
37 CCT5 NM_012073.5(CCT5):c.1270G>T (p.Ala424Ser) SNV Uncertain significance 905599 GRCh37: 5:10262683-10262683
GRCh38: 5:10262571-10262571
38 CCT5 NM_012073.5(CCT5):c.1283C>G (p.Ser428Cys) SNV Uncertain significance 905600 GRCh37: 5:10262696-10262696
GRCh38: 5:10262584-10262584
39 CCT5 NM_012073.5(CCT5):c.*567G>A SNV Uncertain significance 905668 GRCh37: 5:10265462-10265462
GRCh38: 5:10265350-10265350
40 CCT5 NM_012073.5(CCT5):c.*1382C>T SNV Uncertain significance 905727 GRCh37: 5:10266277-10266277
GRCh38: 5:10266165-10266165
41 CCT5 NM_012073.5(CCT5):c.1132A>G (p.Lys378Glu) SNV Uncertain significance 465403 rs773314762 GRCh37: 5:10261810-10261810
GRCh38: 5:10261698-10261698
42 CCT5 NM_012073.5(CCT5):c.895C>G (p.Leu299Val) SNV Uncertain significance 465409 rs141509761 GRCh37: 5:10260925-10260925
GRCh38: 5:10260813-10260813
43 CCT5 NM_012073.5(CCT5):c.86T>C (p.Met29Thr) SNV Uncertain significance 350247 rs141133834 GRCh37: 5:10250538-10250538
GRCh38: 5:10250426-10250426
44 CCT5 NM_012073.5(CCT5):c.267G>C (p.Lys89Asn) SNV Uncertain significance 548523 rs1554010636 GRCh37: 5:10254886-10254886
GRCh38: 5:10254774-10254774
45 CCT5 NM_012073.5(CCT5):c.*1404T>G SNV Uncertain significance 905729 GRCh37: 5:10266299-10266299
GRCh38: 5:10266187-10266187
46 CCT5 NM_012073.5(CCT5):c.*1405T>C SNV Uncertain significance 905730 GRCh37: 5:10266300-10266300
GRCh38: 5:10266188-10266188
47 CCT5 NM_012073.5(CCT5):c.*1427G>A SNV Uncertain significance 905731 GRCh37: 5:10266322-10266322
GRCh38: 5:10266210-10266210
48 CCT5 NM_012073.5(CCT5):c.*1483G>A SNV Uncertain significance 905732 GRCh37: 5:10266378-10266378
GRCh38: 5:10266266-10266266
49 CCT5 NM_012073.5(CCT5):c.*1603G>A SNV Uncertain significance 905733 GRCh37: 5:10266498-10266498
GRCh38: 5:10266386-10266386
50 CCT5 NM_012073.5(CCT5):c.87G>A (p.Met29Ile) SNV Uncertain significance 906043 GRCh37: 5:10250539-10250539
GRCh38: 5:10250427-10250427

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

72
# Symbol AA change Variation ID SNP ID
1 CCT5 p.His147Arg VAR_030658 rs118203986

Expression for Neuropathy, Hereditary Sensory, with Spastic Paraplegia,...

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

Pathways for Neuropathy, Hereditary Sensory, with Spastic Paraplegia,...

GO Terms for Neuropathy, Hereditary Sensory, with Spastic Paraplegia,...

Sources for Neuropathy, Hereditary Sensory, with Spastic Paraplegia,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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