HSAN8
MCID: NRP044
MIFTS: 30

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

Categories: Bone diseases, 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 57 29 6
Hsan8 57 12 59 74
Hereditary Sensory and Autonomic Neuropathy Type Viii 12 59 74
Hereditary Sensory and Autonomic Neuropathy Type 8 12 59 15
Hsan Viii 57 74
Neuropathy, Sensory and Autonomic, Hereditary, Type Viii 40
Neuropathy, Hereditary Sensory and Autonomic, 8 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first months of life


HPO:

32
neuropathy, hereditary sensory and autonomic, type viii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070153
MeSH 44 D009477
Orphanet 59 ORPHA478664

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

UniProtKB/Swiss-Prot : 74 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 pain sensitivity quantitative trait locus 1 and hereditary sensory neuropathy. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Viii is PRDM12 (PR/SET Domain 12). Affiliated tissues include tongue, 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 : 57 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

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Viii:



Diseases related to 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:

32
# Description HPO Frequency HPO Source Accession
1 hypohidrosis 32 HP:0000966
2 recurrent infections 32 HP:0002719
3 corneal scarring 32 HP:0000559
4 corneal ulceration 32 HP:0012804

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
corneal scarring
corneal ulceration
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 29 PRDM12

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

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

41
Tongue

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

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

# Title Authors PMID Year
1
Transcriptional regulator PRDM12 is essential for human pain perception. 8 71
26005867 2015
2
Congenital Insensitivity to Pain Overview 71
29419974 2018
3
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. 8
26975306 2016
4
The evolutionarily conserved transcription factor PRDM12 controls sensory neuron development and pain perception. 71
25891934 2015
5
Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12. 38
29949203 2018

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

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

6 (show all 35)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PRDM12 PRDM12, (GCC)n EXPANSION NT expansion Pathogenic 9:133556993-133556995 9:130681606-130681608
2 PRDM12 NM_021619.3(PRDM12): c.305T> A (p.Ile102Asn) single nucleotide variant Pathogenic rs879255636 9:133542076-133542076 9:130666689-130666689
3 PRDM12 NM_021619.3(PRDM12): c.91G> T (p.Asp31Tyr) single nucleotide variant Pathogenic rs879255637 9:133540131-133540131 9:130664744-130664744
4 PRDM12 NM_021619.3(PRDM12): c.516G> C (p.Glu172Asp) single nucleotide variant Pathogenic rs755205487 9:133543646-133543646 9:130668259-130668259
5 PRDM12 NM_021619.3(PRDM12): c.866A> T (p.His289Leu) single nucleotide variant Pathogenic rs879255638 9:133556818-133556818 9:130681431-130681431
6 PRDM12 NM_021619.3(PRDM12): c.440G> A (p.Arg147His) single nucleotide variant Uncertain significance 9:133543570-133543570 9:130668183-130668183
7 PRDM12 NM_021619.3(PRDM12): c.1039C> G (p.Leu347Val) single nucleotide variant Uncertain significance 9:133556991-133556991 9:130681604-130681604
8 PRDM12 NM_021619.3(PRDM12): c.1093A> G (p.Met365Val) single nucleotide variant Uncertain significance 9:133557045-133557045 9:130681658-130681658
9 PRDM12 NM_021619.3(PRDM12): c.607G> A (p.Gly203Arg) single nucleotide variant Uncertain significance 9:133553952-133553952 9:130678565-130678565
10 PRDM12 NC_000009.11: g.(?_133553896)_(133554047_?)del deletion Uncertain significance 9:133553896-133554047 9:130678509-130678660
11 PRDM12 NM_021619.3(PRDM12): c.831C> G (p.Asn277Lys) single nucleotide variant Uncertain significance 9:133556783-133556783 9:130681396-130681396
12 PRDM12 NM_021619.3(PRDM12): c.995C> T (p.Ala332Val) single nucleotide variant Uncertain significance 9:133556947-133556947 9:130681560-130681560
13 PRDM12 NM_021619.3(PRDM12): c.1003C> A (p.Pro335Thr) single nucleotide variant Uncertain significance 9:133556955-133556955 9:130681568-130681568
14 PRDM12 NM_021619.3(PRDM12): c.1022_1027ACGCGC[3] (p.341_342HA[3]) short repeat Uncertain significance 9:133556980-133556985 9:130681593-130681598
15 PRDM12 NM_021619.3(PRDM12): c.979A> G (p.Ser327Gly) single nucleotide variant Uncertain significance 9:133556931-133556931 9:130681544-130681544
16 PRDM12 NM_021619.3(PRDM12): c.1041_1043CGC[11] (p.Ala359del) short repeat Uncertain significance 9:133556993-133556995 9:130681606-130681608
17 PRDM12 NM_021619.3(PRDM12): c.499G> A (p.Ala167Thr) single nucleotide variant Uncertain significance rs1554752141 9:133543629-133543629 9:130668242-130668242
18 PRDM12 NM_021619.3(PRDM12): c.1044_1045insACC (p.Ala349_Ala350insThr) insertion Uncertain significance rs1429038624 9:133556996-133556997 9:130681609-130681610
19 PRDM12 NM_021619.3(PRDM12): c.1041_1043CGC[5] (p.Ala353_Ala359del) short repeat Uncertain significance rs752427775 9:133557008-133557028 9:130681621-130681641
20 PRDM12 NM_021619.3(PRDM12): c.1041_1043CGC[15] (p.Ala357_Ala359dup) short repeat Uncertain significance rs752427775 9:133557020-133557028 9:130681633-130681641
21 PRDM12 NM_021619.3(PRDM12): c.995C> A (p.Ala332Glu) single nucleotide variant Uncertain significance rs773010364 9:133556947-133556947 9:130681560-130681560
22 PRDM12 NM_021619.3(PRDM12): c.1041_1043CGC[19] (p.Ala353_Ala359dup) short repeat Uncertain significance rs752427775 9:133557008-133557028 9:130681621-130681641
23 PRDM12 NM_021619.3(PRDM12): c.1034_1039dup (p.Pro345_Ala346dup) duplication Uncertain significance rs1298266062 9:133556986-133556991 9:130681599-130681604
24 PRDM12 NM_021619.3(PRDM12): c.1041_1043CGC[8] (p.Ala356_Ala359del) short repeat Likely benign rs752427775 9:133557017-133557028 9:130681630-130681641
25 PRDM12 NM_021619.3(PRDM12): c.426G> A (p.Glu142=) single nucleotide variant Likely benign rs139493961 9:133543556-133543556 9:130668169-130668169
26 PRDM12 NM_021619.3(PRDM12): c.711T> G (p.Ala237=) single nucleotide variant Likely benign rs754277042 9:133556663-133556663 9:130681276-130681276
27 PRDM12 NM_021619.2(PRDM12): c.570+14_570+17dup duplication Likely benign rs138789124 9:133543714-133543717 9:130668327-130668330
28 PRDM12 NM_021619.3(PRDM12): c.1041_1043CGC[13] (p.Ala359dup) short repeat Benign rs752427775 9:133557026-133557028 9:130681639-130681641
29 PRDM12 NM_021619.3(PRDM12): c.1041_1043CGC[9] (p.Ala357_Ala359del) short repeat Benign rs752427775 9:133557020-133557028 9:130681633-130681641
30 PRDM12 NM_021619.3(PRDM12): c.1041_1043CGC[16] (p.Ala356_Ala359dup) short repeat Benign rs752427775 9:133557017-133557028 9:130681630-130681641
31 PRDM12 NM_021619.3(PRDM12): c.1041_1043CGC[10] (p.Ala358_Ala359del) short repeat Benign rs752427775 9:133557023-133557028 9:130681636-130681641
32 PRDM12 NM_021619.3(PRDM12): c.1041_1043CGC[6] (p.Ala354_Ala359del) short repeat Benign rs752427775 9:133557011-133557028 9:130681624-130681641
33 PRDM12 NM_021619.3(PRDM12): c.1041_1043CGC[7] (p.Ala355_Ala359del) short repeat Benign rs752427775 9:133557014-133557028 9:130681627-130681641
34 PRDM12 NM_021619.3(PRDM12): c.855G> A (p.Thr285=) single nucleotide variant Benign rs76175818 9:133556807-133556807 9:130681420-130681420
35 PRDM12 NM_021619.3(PRDM12): c.1041_1043CGC[14] (p.Ala358_Ala359dup) short repeat Benign rs752427775 9:133557023-133557028 9:130681636-130681641

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

74
# 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

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

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Pathways for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

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

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