MCID: NRP055
MIFTS: 26

Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive

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 75 29 6
Neuropathy, Hereditary Sensory, with Spastic Paraplegia 57 13
Neuropathy, Sensory, with Spastic Paraplegia, Hereditary, Autosomal Recessive 40
Hereditary Sensory and Autonomic Neuropathy with Spastic Paraplegia 59
Spastic Paraplegia, Hereditary 44
Hsan with Spastic Paraplegia 59
Hsnsp 75

Characteristics:

Orphanet epidemiological data:

59
hereditary sensory and autonomic neuropathy with spastic paraplegia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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, autosomal recessive:
Onset and clinical course infantile onset juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 256840
Orphanet 59 ORPHA139578
ICD10 via Orphanet 34 G60.8
UMLS via Orphanet 74 C1850395
MedGen 42 C1850395
MeSH 44 D015419

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

UniProtKB/Swiss-Prot : 75 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, also known as neuropathy, hereditary sensory, with spastic paraplegia, is related to hereditary spastic paraplegia and spastic paraplegia 7, autosomal recessive. 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 clonus

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

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 11.9
2 spastic paraplegia 7, autosomal recessive 11.3
3 spastic paraplegia 20, autosomal recessive 11.2
4 spastic paraplegia 3 11.0
5 spastic paraplegia 3, autosomal dominant 11.0
6 hereditary motor and sensory neuropathy v 11.0
7 paraplegia 10.6
8 spasticity 10.3
9 sensory peripheral neuropathy 10.1
10 neuropathy sensory spastic paraplegia 9.9
11 3-methylglutaconic aciduria, type iii 9.9
12 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.9
13 hereditary ataxia 9.9
14 hereditary sensory neuropathy 9.9

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



Diseases related to Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
2 clonus 59 32 frequent (33%) Frequent (79-30%) HP:0002169
3 dysautonomia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002459
4 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
5 sensory axonal neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0003390
6 decreased motor nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0003431
7 impaired pain sensation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007328
8 spastic paraplegia 59 32 Very frequent (99-80%) HP:0001258
9 progressive spastic paraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0007020
10 distal sensory loss of all modalities 59 32 hallmark (90%) Very frequent (99-80%) HP:0006984
11 distal amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003693
12 abnormality of the spinal cord 59 32 frequent (33%) Frequent (79-30%) HP:0002143
13 acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) 59 32 occasional (7.5%) Occasional (29-5%) HP:0001862
14 foot osteomyelitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001886
15 spasticity 59 Very frequent (99-80%)
16 hyperreflexia 59 Very frequent (99-80%)
17 peripheral neuropathy 59 Very frequent (99-80%)
18 abnormality of the foot 32 HP:0001760
19 skin ulcer 59 Very frequent (99-80%)
20 spastic gait 32 HP:0002064
21 distal sensory impairment 32 HP:0002936
22 hypocholesterolemia 32 HP:0003146
23 atrophy of the spinal cord 32 HP:0006827
24 peripheral axonal neuropathy 32 HP:0003477
25 decreased ldl cholesterol conncentration 32 HP:0003563
26 acral ulceration and osteomyelitis leading to autoamputation of digits 32 HP:0001226

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

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

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, 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:

41
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:

75
# 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 54)
# 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 GRCh37 Chromosome 5, 10262740: 10262740
12 CCT5 NM_012073.4(CCT5): c.1317+10C> A single nucleotide variant Benign rs2578642 GRCh38 Chromosome 5, 10262628: 10262628
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.86T> C (p.Met29Thr) single nucleotide variant Uncertain significance rs141133834 GRCh38 Chromosome 5, 10250426: 10250426
16 CCT5 NM_012073.4(CCT5): c.86T> C (p.Met29Thr) single nucleotide variant Uncertain significance rs141133834 GRCh37 Chromosome 5, 10250538: 10250538
17 CCT5 NM_012073.4(CCT5): c.198A> G (p.Gly66=) single nucleotide variant Benign rs2578617 GRCh38 Chromosome 5, 10254705: 10254705
18 CCT5 NM_012073.4(CCT5): c.198A> G (p.Gly66=) single nucleotide variant Benign rs2578617 GRCh37 Chromosome 5, 10254817: 10254817
19 CCT5 NM_012073.4(CCT5): c.426T> C (p.Arg142=) single nucleotide variant Benign rs1042392 GRCh38 Chromosome 5, 10256049: 10256049
20 CCT5 NM_012073.4(CCT5): c.426T> C (p.Arg142=) single nucleotide variant Benign rs1042392 GRCh37 Chromosome 5, 10256161: 10256161
21 CCT5 NM_012073.4(CCT5): c.1324A> G (p.Thr442Ala) single nucleotide variant Uncertain significance rs759193876 GRCh37 Chromosome 5, 10263252: 10263252
22 CCT5 NM_012073.4(CCT5): c.1324A> G (p.Thr442Ala) single nucleotide variant Uncertain significance rs759193876 GRCh38 Chromosome 5, 10263140: 10263140
23 CCT5 NM_012073.4(CCT5): c.1132A> G (p.Lys378Glu) single nucleotide variant Uncertain significance rs773314762 GRCh38 Chromosome 5, 10261698: 10261698
24 CCT5 NM_012073.4(CCT5): c.1132A> G (p.Lys378Glu) single nucleotide variant Uncertain significance rs773314762 GRCh37 Chromosome 5, 10261810: 10261810
25 CCT5 NM_012073.4(CCT5): c.1311G> A (p.Ala437=) single nucleotide variant Likely benign rs746715722 GRCh38 Chromosome 5, 10262612: 10262612
26 CCT5 NM_012073.4(CCT5): c.1311G> A (p.Ala437=) single nucleotide variant Likely benign rs746715722 GRCh37 Chromosome 5, 10262724: 10262724
27 CCT5 NM_012073.4(CCT5): c.753C> T (p.Leu251=) single nucleotide variant Likely benign rs755384536 GRCh37 Chromosome 5, 10258527: 10258527
28 CCT5 NM_012073.4(CCT5): c.753C> T (p.Leu251=) single nucleotide variant Likely benign rs755384536 GRCh38 Chromosome 5, 10258415: 10258415
29 CCT5 NM_012073.4(CCT5): c.954C> T (p.Asn318=) single nucleotide variant Likely benign rs150870419 GRCh38 Chromosome 5, 10260872: 10260872
30 CCT5 NM_012073.4(CCT5): c.954C> T (p.Asn318=) single nucleotide variant Likely benign rs150870419 GRCh37 Chromosome 5, 10260984: 10260984
31 CCT5 NM_012073.4(CCT5): c.1194G> A (p.Ala398=) single nucleotide variant Benign rs113262482 GRCh38 Chromosome 5, 10262495: 10262495
32 CCT5 NM_012073.4(CCT5): c.1194G> A (p.Ala398=) single nucleotide variant Benign rs113262482 GRCh37 Chromosome 5, 10262607: 10262607
33 CCT5 NM_012073.4(CCT5): c.895C> G (p.Leu299Val) single nucleotide variant Uncertain significance rs141509761 GRCh38 Chromosome 5, 10260813: 10260813
34 CCT5 NM_012073.4(CCT5): c.895C> G (p.Leu299Val) single nucleotide variant Uncertain significance rs141509761 GRCh37 Chromosome 5, 10260925: 10260925
35 CCT5 NM_012073.4(CCT5): c.1044C> T (p.Leu348=) single nucleotide variant Likely benign GRCh37 Chromosome 5, 10261722: 10261722
36 CCT5 NM_012073.4(CCT5): c.1044C> T (p.Leu348=) single nucleotide variant Likely benign GRCh38 Chromosome 5, 10261610: 10261610
37 CCT5 NM_012073.4(CCT5): c.1316A> C (p.Lys439Thr) single nucleotide variant Uncertain significance rs768671276 GRCh37 Chromosome 5, 10262729: 10262729
38 CCT5 NM_012073.4(CCT5): c.1316A> C (p.Lys439Thr) single nucleotide variant Uncertain significance rs768671276 GRCh38 Chromosome 5, 10262617: 10262617
39 CCT5 NM_012073.4(CCT5): c.1336T> C (p.Tyr446His) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 10263152: 10263152
40 CCT5 NM_012073.4(CCT5): c.1336T> C (p.Tyr446His) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 10263264: 10263264
41 CCT5 NM_012073.4(CCT5): c.1051G> A (p.Glu351Lys) single nucleotide variant Uncertain significance rs140095139 GRCh38 Chromosome 5, 10261617: 10261617
42 CCT5 NM_012073.4(CCT5): c.1051G> A (p.Glu351Lys) single nucleotide variant Uncertain significance rs140095139 GRCh37 Chromosome 5, 10261729: 10261729
43 CCT5 NM_012073.4(CCT5): c.1180-4T> C single nucleotide variant Likely benign rs751954199 GRCh37 Chromosome 5, 10262589: 10262589
44 CCT5 NM_012073.4(CCT5): c.1180-4T> C single nucleotide variant Likely benign rs751954199 GRCh38 Chromosome 5, 10262477: 10262477
45 CCT5 NM_012073.4(CCT5): c.1308G> A (p.Glu436=) single nucleotide variant Likely benign rs772175136 GRCh37 Chromosome 5, 10262721: 10262721
46 CCT5 NM_012073.4(CCT5): c.1308G> A (p.Glu436=) single nucleotide variant Likely benign rs772175136 GRCh38 Chromosome 5, 10262609: 10262609
47 CCT5 NM_012073.4(CCT5): c.1359C> T (p.Asp453=) single nucleotide variant Likely benign rs751771583 GRCh38 Chromosome 5, 10263175: 10263175
48 CCT5 NM_012073.4(CCT5): c.1359C> T (p.Asp453=) single nucleotide variant Likely benign rs751771583 GRCh37 Chromosome 5, 10263287: 10263287
49 CCT5 NM_012073.4(CCT5): c.724-6C> T single nucleotide variant Likely benign rs781230840 GRCh38 Chromosome 5, 10258380: 10258380
50 CCT5 NM_012073.4(CCT5): c.724-6C> T single nucleotide variant Likely benign rs781230840 GRCh37 Chromosome 5, 10258492: 10258492

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,...

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