HSAN8
MCID: NRP044
MIFTS: 28

Neuropathy, Hereditary Sensory and Autonomic, Type Viii (HSAN8)

Categories: Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

MalaCards integrated aliases for Neuropathy, Hereditary Sensory and Autonomic, Type Viii:

Name: Neuropathy, Hereditary Sensory and Autonomic, Type Viii 58 30 6
Hsan8 58 12 60 76
Hereditary Sensory and Autonomic Neuropathy Type Viii 12 60 76
Hereditary Sensory and Autonomic Neuropathy Type 8 12 60 15
Hsan Viii 58 76
Neuropathy, Sensory and Autonomic, Hereditary, Type Viii 41
Neuropathy, Hereditary Sensory and Autonomic, 8 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in first months of life


HPO:

33
neuropathy, hereditary sensory and autonomic, type viii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070153
OMIM 58 616488
MeSH 45 D009477
Orphanet 60 ORPHA478664

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

UniProtKB/Swiss-Prot : 76 Neuropathy, hereditary sensory and autonomic, 8: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN8 patients manifest congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Some patients may also have decreased sweating and tear production.

MalaCards based summary : Neuropathy, Hereditary Sensory and Autonomic, Type Viii, also known as hsan8, is related to hereditary sensory neuropathy and autonomic neuropathy. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Viii is PRDM12 (PR/SET Domain 12). Affiliated tissues include tongue, skin and eye, and related phenotypes are hypohidrosis and recurrent infections

Disease Ontology : 12 A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34.

OMIM : 58 Hereditary sensory and autonomic neuropathy type VIII is an autosomal recessive neurologic disorder characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Affected individuals may also have decreased sweating and tear production (summary by Chen et al., 2015). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1A (162400). (616488)

Related Diseases for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

Human phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type Viii:

33
# Description HPO Frequency HPO Source Accession
1 hypohidrosis 33 HP:0000966
2 recurrent infections 33 HP:0002719
3 corneal ulceration 33 HP:0012804
4 corneal scarring 33 HP:0000559

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
corneal ulceration
corneal scarring
absent corneal reflex
decreased tearing

Head And Neck Face:
facial scratching

Skeletal Hands:
recurrent infections due to painless trauma and ulceration

Skin Nails Hair Skin Histology:
absence of c fiber terminals crossing the basement membrane to innervate the epidermis
reduction of autonomic innervation to sweat glands

Skin Nails Hair Skin:
decreased sweating
recurrent infections due to painless trauma and ulceration
painless, ulcerating lesions of distal extremities, tongue, and lips

Head And Neck Mouth:
lip biting
tongue biting

Skeletal Feet:
recurrent infections due to painless trauma and ulceration

Neurologic Peripheral Nervous System:
insensitivity to pain and temperature
sural nerve biopsy shows severe loss of small-caliber myelinated a-delta fibers
large-caliber axons remain intact

Clinical features from OMIM:

616488

Drugs & Therapeutics for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

Search Clinical Trials , NIH Clinical Center for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

Genetic Tests for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

Genetic tests related to Neuropathy, Hereditary Sensory and Autonomic, Type Viii:

# Genetic test Affiliating Genes
1 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 30 PRDM12

Anatomical Context for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

MalaCards organs/tissues related to Neuropathy, Hereditary Sensory and Autonomic, Type Viii:

42
Tongue, Skin, Eye

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

Articles related to Neuropathy, Hereditary Sensory and Autonomic, Type Viii:

# Title Authors Year
1
Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature. ( 28807049 )
2017
2
The evolutionarily conserved transcription factor PRDM12 controls sensory neuron development and pain perception. ( 25891934 )
2015
3
Transcriptional regulator PRDM12 is essential for human pain perception. ( 26005867 )
2015

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type Viii:

76
# Symbol AA change Variation ID SNP ID
1 PRDM12 p.Asp31Tyr VAR_074617 rs879255637
2 PRDM12 p.Ile102Asn VAR_074618 rs879255636
3 PRDM12 p.Trp160Cys VAR_074619
4 PRDM12 p.Arg168Cys VAR_074620 rs767397937
5 PRDM12 p.Glu172Asp VAR_074621 rs755205487
6 PRDM12 p.His289Leu VAR_074622 rs879255638

ClinVar genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type Viii:

6 (show top 50) (show all 66)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRDM12 NM_021619.2: c.1041_1043[(> 14)] NT expansion Pathogenic GRCh37 Chromosome 9, 133556993: 133556995
2 PRDM12 NM_021619.2: c.1041_1043[(> 14)] NT expansion Pathogenic GRCh38 Chromosome 9, 130681606: 130681608
3 PRDM12 NM_021619.2(PRDM12): c.305T> A (p.Ile102Asn) single nucleotide variant Pathogenic rs879255636 GRCh37 Chromosome 9, 133542076: 133542076
4 PRDM12 NM_021619.2(PRDM12): c.305T> A (p.Ile102Asn) single nucleotide variant Pathogenic rs879255636 GRCh38 Chromosome 9, 130666689: 130666689
5 PRDM12 NM_021619.2(PRDM12): c.91G> T (p.Asp31Tyr) single nucleotide variant Pathogenic rs879255637 GRCh37 Chromosome 9, 133540131: 133540131
6 PRDM12 NM_021619.2(PRDM12): c.91G> T (p.Asp31Tyr) single nucleotide variant Pathogenic rs879255637 GRCh38 Chromosome 9, 130664744: 130664744
7 PRDM12 NM_021619.2(PRDM12): c.516G> C (p.Glu172Asp) single nucleotide variant Pathogenic rs755205487 GRCh37 Chromosome 9, 133543646: 133543646
8 PRDM12 NM_021619.2(PRDM12): c.516G> C (p.Glu172Asp) single nucleotide variant Pathogenic rs755205487 GRCh38 Chromosome 9, 130668259: 130668259
9 PRDM12 NM_021619.2(PRDM12): c.866A> T (p.His289Leu) single nucleotide variant Pathogenic rs879255638 GRCh37 Chromosome 9, 133556818: 133556818
10 PRDM12 NM_021619.2(PRDM12): c.866A> T (p.His289Leu) single nucleotide variant Pathogenic rs879255638 GRCh38 Chromosome 9, 130681431: 130681431
11 PRDM12 NM_021619.2(PRDM12): c.426G> A (p.Glu142=) single nucleotide variant Likely benign rs139493961 GRCh38 Chromosome 9, 130668169: 130668169
12 PRDM12 NM_021619.2(PRDM12): c.426G> A (p.Glu142=) single nucleotide variant Likely benign rs139493961 GRCh37 Chromosome 9, 133543556: 133543556
13 PRDM12 NM_021619.2(PRDM12): c.499G> A (p.Ala167Thr) single nucleotide variant Uncertain significance rs1554752141 GRCh37 Chromosome 9, 133543629: 133543629
14 PRDM12 NM_021619.2(PRDM12): c.499G> A (p.Ala167Thr) single nucleotide variant Uncertain significance rs1554752141 GRCh38 Chromosome 9, 130668242: 130668242
15 PRDM12 NM_021619.2(PRDM12): c.1044_1045insACC (p.Ala348_Ala349insThr) insertion Uncertain significance rs1429038624 GRCh37 Chromosome 9, 133556996: 133556997
16 PRDM12 NM_021619.2(PRDM12): c.1044_1045insACC (p.Ala348_Ala349insThr) insertion Uncertain significance rs1429038624 GRCh38 Chromosome 9, 130681609: 130681610
17 PRDM12 NM_021619.2(PRDM12): c.1056_1076delCGCCGCCGCCGCCGCCGCCGC (p.Ala353_Ala359del) deletion Uncertain significance rs752427775 GRCh37 Chromosome 9, 133557008: 133557028
18 PRDM12 NM_021619.2(PRDM12): c.1056_1076delCGCCGCCGCCGCCGCCGCCGC (p.Ala353_Ala359del) deletion Uncertain significance rs752427775 GRCh38 Chromosome 9, 130681621: 130681641
19 PRDM12 NM_021619.2(PRDM12): c.1068_1076delCGCCGCCGC (p.Ala357_Ala359del) deletion Benign rs752427775 GRCh38 Chromosome 9, 130681633: 130681641
20 PRDM12 NM_021619.2(PRDM12): c.1068_1076delCGCCGCCGC (p.Ala357_Ala359del) deletion Benign rs752427775 GRCh37 Chromosome 9, 133557020: 133557028
21 PRDM12 NM_021619.2(PRDM12): c.1068_1076dup (p.Ala359_His360insAlaAlaAla) duplication Uncertain significance rs752427775 GRCh38 Chromosome 9, 130681633: 130681641
22 PRDM12 NM_021619.2(PRDM12): c.1068_1076dup (p.Ala359_His360insAlaAlaAla) duplication Uncertain significance rs752427775 GRCh37 Chromosome 9, 133557020: 133557028
23 PRDM12 NM_021619.2(PRDM12): c.1074_1076dup (p.Ala359_His360insAla) duplication Benign rs752427775 GRCh37 Chromosome 9, 133557026: 133557028
24 PRDM12 NM_021619.2(PRDM12): c.1074_1076dup (p.Ala359_His360insAla) duplication Benign rs752427775 GRCh38 Chromosome 9, 130681639: 130681641
25 PRDM12 NM_021619.2(PRDM12): c.711T> G (p.Ala237=) single nucleotide variant Likely benign rs754277042 GRCh37 Chromosome 9, 133556663: 133556663
26 PRDM12 NM_021619.2(PRDM12): c.711T> G (p.Ala237=) single nucleotide variant Likely benign rs754277042 GRCh38 Chromosome 9, 130681276: 130681276
27 PRDM12 NM_021619.2(PRDM12) duplication Uncertain significance rs752427775 GRCh37 Chromosome 9, 133557008: 133557028
28 PRDM12 NM_021619.2(PRDM12) duplication Uncertain significance rs752427775 GRCh38 Chromosome 9, 130681621: 130681641
29 PRDM12 NM_021619.2(PRDM12): c.1071_1076delCGCCGC (p.Ala358_Ala359del) deletion Benign rs752427775 GRCh38 Chromosome 9, 130681636: 130681641
30 PRDM12 NM_021619.2(PRDM12): c.1071_1076delCGCCGC (p.Ala358_Ala359del) deletion Benign rs752427775 GRCh37 Chromosome 9, 133557023: 133557028
31 PRDM12 NM_021619.2(PRDM12): c.995C> A (p.Ala332Glu) single nucleotide variant Uncertain significance rs773010364 GRCh37 Chromosome 9, 133556947: 133556947
32 PRDM12 NM_021619.2(PRDM12): c.995C> A (p.Ala332Glu) single nucleotide variant Uncertain significance rs773010364 GRCh38 Chromosome 9, 130681560: 130681560
33 PRDM12 NM_021619.2(PRDM12): c.1059_1076delCGCCGCCGCCGCCGCCGC (p.Ala354_Ala359del) deletion Benign rs752427775 GRCh37 Chromosome 9, 133557011: 133557028
34 PRDM12 NM_021619.2(PRDM12): c.1059_1076delCGCCGCCGCCGCCGCCGC (p.Ala354_Ala359del) deletion Benign rs752427775 GRCh38 Chromosome 9, 130681624: 130681641
35 PRDM12 NM_021619.2(PRDM12): c.1062_1076delCGCCGCCGCCGCCGC (p.Ala355_Ala359del) deletion Benign rs752427775 GRCh38 Chromosome 9, 130681627: 130681641
36 PRDM12 NM_021619.2(PRDM12): c.1062_1076delCGCCGCCGCCGCCGC (p.Ala355_Ala359del) deletion Benign rs752427775 GRCh37 Chromosome 9, 133557014: 133557028
37 PRDM12 NM_021619.2(PRDM12): c.855G> A (p.Thr285=) single nucleotide variant Benign rs76175818 GRCh37 Chromosome 9, 133556807: 133556807
38 PRDM12 NM_021619.2(PRDM12): c.855G> A (p.Thr285=) single nucleotide variant Benign rs76175818 GRCh38 Chromosome 9, 130681420: 130681420
39 PRDM12 NM_021619.2(PRDM12): c.1071_1076dup (p.Ala359_His360insAlaAla) duplication Benign rs752427775 GRCh37 Chromosome 9, 133557023: 133557028
40 PRDM12 NM_021619.2(PRDM12): c.1071_1076dup (p.Ala359_His360insAlaAla) duplication Benign rs752427775 GRCh38 Chromosome 9, 130681636: 130681641
41 PRDM12 NM_021619.2(PRDM12): c.1034_1039dup (p.Ala346_Leu347insProAla) duplication Uncertain significance rs1298266062 GRCh38 Chromosome 9, 130681599: 130681604
42 PRDM12 NM_021619.2(PRDM12): c.1034_1039dup (p.Ala346_Leu347insProAla) duplication Uncertain significance rs1298266062 GRCh37 Chromosome 9, 133556986: 133556991
43 PRDM12 NM_021619.2(PRDM12): c.1065_1076delCGCCGCCGCCGC (p.Ala356_Ala359del) deletion Likely benign rs752427775 GRCh37 Chromosome 9, 133557017: 133557028
44 PRDM12 NM_021619.2(PRDM12): c.1065_1076delCGCCGCCGCCGC (p.Ala356_Ala359del) deletion Likely benign rs752427775 GRCh38 Chromosome 9, 130681630: 130681641
45 PRDM12 NM_021619.2(PRDM12): c.1065_1076dup (p.Ala359_His360insAlaAlaAlaAla) duplication Benign rs752427775 GRCh37 Chromosome 9, 133557017: 133557028
46 PRDM12 NM_021619.2(PRDM12): c.1065_1076dup (p.Ala359_His360insAlaAlaAlaAla) duplication Benign rs752427775 GRCh38 Chromosome 9, 130681630: 130681641
47 PRDM12 NM_021619.2(PRDM12): c.570+14_570+17dup duplication Likely benign rs138789124 GRCh37 Chromosome 9, 133543714: 133543717
48 PRDM12 NM_021619.2(PRDM12): c.570+14_570+17dup duplication Likely benign rs138789124 GRCh38 Chromosome 9, 130668327: 130668330
49 PRDM12 NM_021619.2(PRDM12): c.440G> A (p.Arg147His) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 130668183: 130668183
50 PRDM12 NM_021619.2(PRDM12): c.440G> A (p.Arg147His) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 133543570: 133543570

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

Search GEO for disease gene expression data for Neuropathy, Hereditary Sensory and Autonomic, Type Viii.

Pathways for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

GO Terms for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....