HSNSP
MCID: NRP055
MIFTS: 22

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 58 76 30 6
Neuropathy, Hereditary Sensory, with Spastic Paraplegia 58 13
Neuropathy, Sensory, with Spastic Paraplegia, Hereditary, Autosomal Recessive 41
Mutilating Hereditary Sensory Neuropathy with Spastic Paraplegia 60
Mutilating Hsan with Spastic Paraplegia 60
Hsnsp 76

Characteristics:

Orphanet epidemiological data:

60
mutilating hereditary sensory neuropathy with spastic paraplegia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive:
Onset and clinical course infantile onset juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 256840
MeSH 45 D015419
ICD10 via Orphanet 35 G60.8
UMLS via Orphanet 75 C1850395
Orphanet 60 ORPHA139578
MedGen 43 C1850395

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

UniProtKB/Swiss-Prot : 76 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 skin, and related phenotypes are gait disturbance and impaired pain sensation

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

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

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

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
2 impaired pain sensation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007328
3 distal sensory loss of all modalities 60 33 hallmark (90%) Very frequent (99-80%) HP:0006984
4 abnormal autonomic nervous system physiology 33 hallmark (90%) HP:0012332
5 clonus 60 33 frequent (33%) Frequent (79-30%) HP:0002169
6 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
7 sensory axonal neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0003390
8 decreased motor nerve conduction velocity 60 33 frequent (33%) Frequent (79-30%) HP:0003431
9 progressive spastic paraplegia 60 33 frequent (33%) Frequent (79-30%) HP:0007020
10 distal amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003693
11 abnormality of the spinal cord 60 33 frequent (33%) Frequent (79-30%) HP:0002143
12 foot osteomyelitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001886
13 acral ulceration 33 occasional (7.5%) HP:0006121
14 spastic paraplegia 60 33 Very frequent (99-80%) HP:0001258
15 spasticity 60 Very frequent (99-80%)
16 hyperreflexia 60 Very frequent (99-80%)
17 dysautonomia 60 Very frequent (99-80%)
18 peripheral neuropathy 60 Very frequent (99-80%)
19 abnormality of the foot 33 HP:0001760
20 skin ulcer 60 Very frequent (99-80%)
21 spastic gait 33 HP:0002064
22 peripheral axonal neuropathy 33 HP:0003477
23 distal sensory impairment 33 HP:0002936
24 hypocholesterolemia 33 HP:0003146
25 atrophy of the spinal cord 33 HP:0006827
26 acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) 60 Occasional (29-5%)
27 decreased ldl cholesterol concentration 33 HP:0003563

Symptoms via clinical synopsis from OMIM:

58
Neurologic Peripheral Nervous System:
hyperreflexia
clonus
babinski sign
spastic paraplegia
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

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 30 CCT5

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

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

42
Spinal Cord, Skin

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, Autosomal Recessive:

76
# 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, Autosomal Recessive:

6 (show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 CCT5 NM_012073.4(CCT5): c.440A> G (p.His147Arg) single nucleotide variant Likely pathogenic rs118203986 GRCh37 Chromosome 5, 10256175: 10256175
2 CCT5 NM_012073.4(CCT5): c.440A> G (p.His147Arg) single nucleotide variant Likely pathogenic rs118203986 GRCh38 Chromosome 5, 10256063: 10256063
3 CCT5 NM_012073.4(CCT5): c.437A> T (p.Glu146Val) single nucleotide variant Benign/Likely benign rs11557652 GRCh38 Chromosome 5, 10256060: 10256060
4 CCT5 NM_012073.4(CCT5): c.437A> T (p.Glu146Val) single nucleotide variant Benign/Likely benign rs11557652 GRCh37 Chromosome 5, 10256172: 10256172
5 CCT5 NM_012073.4(CCT5): c.738G> A (p.Ala246=) single nucleotide variant Benign/Likely benign rs11557649 GRCh38 Chromosome 5, 10258400: 10258400
6 CCT5 NM_012073.4(CCT5): c.738G> A (p.Ala246=) single nucleotide variant Benign/Likely benign rs11557649 GRCh37 Chromosome 5, 10258512: 10258512
7 CCT5 NM_012073.4(CCT5): c.1086C> G (p.Ile362Met) single nucleotide variant Conflicting interpretations of pathogenicity rs141675330 GRCh37 Chromosome 5, 10261764: 10261764
8 CCT5 NM_012073.4(CCT5): c.1086C> G (p.Ile362Met) single nucleotide variant Conflicting interpretations of pathogenicity rs141675330 GRCh38 Chromosome 5, 10261652: 10261652
9 CCT5 NM_012073.4(CCT5): c.-23G> A single nucleotide variant Benign rs2548546 GRCh38 Chromosome 5, 10250318: 10250318
10 CCT5 NM_012073.4(CCT5): c.-23G> A single nucleotide variant Benign rs2548546 GRCh37 Chromosome 5, 10250430: 10250430
11 CCT5 NM_012073.4(CCT5): c.1317+10C> A single nucleotide variant Benign rs2578642 GRCh38 Chromosome 5, 10262628: 10262628
12 CCT5 NM_012073.4(CCT5): c.1317+10C> A single nucleotide variant Benign rs2578642 GRCh37 Chromosome 5, 10262740: 10262740
13 CCT5 NM_012073.4(CCT5): c.-10T> C single nucleotide variant Benign rs2578618 GRCh38 Chromosome 5, 10250331: 10250331
14 CCT5 NM_012073.4(CCT5): c.-10T> C single nucleotide variant Benign rs2578618 GRCh37 Chromosome 5, 10250443: 10250443
15 CCT5 NM_012073.4(CCT5): c.878A> T (p.Lys293Ile) single nucleotide variant Uncertain significance rs148752621 GRCh38 Chromosome 5, 10260796: 10260796
16 CCT5 NM_012073.4(CCT5): c.878A> T (p.Lys293Ile) single nucleotide variant Uncertain significance rs148752621 GRCh37 Chromosome 5, 10260908: 10260908
17 CCT5 NM_012073.4(CCT5): c.86T> C (p.Met29Thr) single nucleotide variant Uncertain significance rs141133834 GRCh38 Chromosome 5, 10250426: 10250426
18 CCT5 NM_012073.4(CCT5): c.86T> C (p.Met29Thr) single nucleotide variant Uncertain significance rs141133834 GRCh37 Chromosome 5, 10250538: 10250538
19 CCT5 NM_012073.4(CCT5): c.198A> G (p.Gly66=) single nucleotide variant Benign rs2578617 GRCh38 Chromosome 5, 10254705: 10254705
20 CCT5 NM_012073.4(CCT5): c.198A> G (p.Gly66=) single nucleotide variant Benign rs2578617 GRCh37 Chromosome 5, 10254817: 10254817
21 CCT5 NM_012073.4(CCT5): c.426T> C (p.Arg142=) single nucleotide variant Benign rs1042392 GRCh38 Chromosome 5, 10256049: 10256049
22 CCT5 NM_012073.4(CCT5): c.426T> C (p.Arg142=) single nucleotide variant Benign rs1042392 GRCh37 Chromosome 5, 10256161: 10256161
23 CCT5 NM_012073.4(CCT5): c.1324A> G (p.Thr442Ala) single nucleotide variant Uncertain significance rs759193876 GRCh37 Chromosome 5, 10263252: 10263252
24 CCT5 NM_012073.4(CCT5): c.1324A> G (p.Thr442Ala) single nucleotide variant Uncertain significance rs759193876 GRCh38 Chromosome 5, 10263140: 10263140
25 CCT5 NM_012073.4(CCT5): c.1132A> G (p.Lys378Glu) single nucleotide variant Uncertain significance rs773314762 GRCh38 Chromosome 5, 10261698: 10261698
26 CCT5 NM_012073.4(CCT5): c.1132A> G (p.Lys378Glu) single nucleotide variant Uncertain significance rs773314762 GRCh37 Chromosome 5, 10261810: 10261810
27 CCT5 NM_012073.4(CCT5): c.1311G> A (p.Ala437=) single nucleotide variant Likely benign rs746715722 GRCh38 Chromosome 5, 10262612: 10262612
28 CCT5 NM_012073.4(CCT5): c.1311G> A (p.Ala437=) single nucleotide variant Likely benign rs746715722 GRCh37 Chromosome 5, 10262724: 10262724
29 CCT5 NM_012073.4(CCT5): c.753C> T (p.Leu251=) single nucleotide variant Likely benign rs755384536 GRCh38 Chromosome 5, 10258415: 10258415
30 CCT5 NM_012073.4(CCT5): c.753C> T (p.Leu251=) single nucleotide variant Likely benign rs755384536 GRCh37 Chromosome 5, 10258527: 10258527
31 CCT5 NM_012073.4(CCT5): c.954C> T (p.Asn318=) single nucleotide variant Likely benign rs150870419 GRCh38 Chromosome 5, 10260872: 10260872
32 CCT5 NM_012073.4(CCT5): c.954C> T (p.Asn318=) single nucleotide variant Likely benign rs150870419 GRCh37 Chromosome 5, 10260984: 10260984
33 CCT5 NM_012073.4(CCT5): c.1194G> A (p.Ala398=) single nucleotide variant Benign rs113262482 GRCh38 Chromosome 5, 10262495: 10262495
34 CCT5 NM_012073.4(CCT5): c.1194G> A (p.Ala398=) single nucleotide variant Benign rs113262482 GRCh37 Chromosome 5, 10262607: 10262607
35 CCT5 NM_012073.4(CCT5): c.895C> G (p.Leu299Val) single nucleotide variant Uncertain significance rs141509761 GRCh38 Chromosome 5, 10260813: 10260813
36 CCT5 NM_012073.4(CCT5): c.895C> G (p.Leu299Val) single nucleotide variant Uncertain significance rs141509761 GRCh37 Chromosome 5, 10260925: 10260925
37 CCT5 NM_012073.4(CCT5): c.1044C> T (p.Leu348=) single nucleotide variant Likely benign rs1554011541 GRCh37 Chromosome 5, 10261722: 10261722
38 CCT5 NM_012073.4(CCT5): c.1044C> T (p.Leu348=) single nucleotide variant Likely benign rs1554011541 GRCh38 Chromosome 5, 10261610: 10261610
39 CCT5 NM_012073.4(CCT5): c.1316A> C (p.Lys439Thr) single nucleotide variant Uncertain significance rs768671276 GRCh37 Chromosome 5, 10262729: 10262729
40 CCT5 NM_012073.4(CCT5): c.1316A> C (p.Lys439Thr) single nucleotide variant Uncertain significance rs768671276 GRCh38 Chromosome 5, 10262617: 10262617
41 CCT5 NM_012073.4(CCT5): c.1336T> C (p.Tyr446His) single nucleotide variant Uncertain significance rs1554011822 GRCh38 Chromosome 5, 10263152: 10263152
42 CCT5 NM_012073.4(CCT5): c.1336T> C (p.Tyr446His) single nucleotide variant Uncertain significance rs1554011822 GRCh37 Chromosome 5, 10263264: 10263264
43 CCT5 NM_012073.4(CCT5): c.1051G> A (p.Glu351Lys) single nucleotide variant Uncertain significance rs140095139 GRCh37 Chromosome 5, 10261729: 10261729
44 CCT5 NM_012073.4(CCT5): c.1051G> A (p.Glu351Lys) single nucleotide variant Uncertain significance rs140095139 GRCh38 Chromosome 5, 10261617: 10261617
45 CCT5 NM_012073.4(CCT5): c.1180-4T> C single nucleotide variant Likely benign rs751954199 GRCh37 Chromosome 5, 10262589: 10262589
46 CCT5 NM_012073.4(CCT5): c.1180-4T> C single nucleotide variant Likely benign rs751954199 GRCh38 Chromosome 5, 10262477: 10262477
47 CCT5 NM_012073.4(CCT5): c.1308G> A (p.Glu436=) single nucleotide variant Likely benign rs772175136 GRCh37 Chromosome 5, 10262721: 10262721
48 CCT5 NM_012073.4(CCT5): c.1308G> A (p.Glu436=) single nucleotide variant Likely benign rs772175136 GRCh38 Chromosome 5, 10262609: 10262609
49 CCT5 NM_012073.4(CCT5): c.1359C> T (p.Asp453=) single nucleotide variant Likely benign rs751771583 GRCh37 Chromosome 5, 10263287: 10263287
50 CCT5 NM_012073.4(CCT5): c.1359C> T (p.Asp453=) single nucleotide variant Likely benign rs751771583 GRCh38 Chromosome 5, 10263175: 10263175

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,...

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