HSAN8
MCID: NRP044
MIFTS: 44

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, 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 56 29 6
Hsan8 56 12 58 73
Hereditary Sensory and Autonomic Neuropathy Type Viii 12 58 73
Hereditary Sensory and Autonomic Neuropathy Type 8 12 58 15
Hsan Viii 56 73
Neuropathy, Sensory and Autonomic, Hereditary, Type Viii 39
Neuropathy, Hereditary Sensory and Autonomic, 8 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in first months of life


HPO:

31
neuropathy, hereditary sensory and autonomic, type viii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070153
OMIM 56 616488
OMIM Phenotypic Series 56 PS162400
MeSH 43 D009477
Orphanet 58 ORPHA478664

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

UniProtKB/Swiss-Prot : 73 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 neuropathy and autonomic neuropathy. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Viii is PRDM12 (PR/SET Domain 12), and among its related pathways/superpathways are Neuroscience and Insulin receptor recycling. Affiliated tissues include tongue, brain 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 : 56 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

Diseases in the Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy family:

Neuropathy, Hereditary Sensory and Autonomic, Type Ia Neuropathy, Hereditary Sensory and Autonomic, Type Iia
Neuropathy, Hereditary Sensory and Autonomic, Type Iii Neuropathy, Hereditary Sensory and Autonomic, Type V
Neuropathy, Hereditary Sensory and Autonomic, Type Iib Neuropathy, Hereditary Sensory and Autonomic, Type Ic
Neuropathy, Hereditary Sensory and Autonomic, Type Vi Neuropathy, Hereditary Sensory and Autonomic, Type Vii
Neuropathy, Hereditary Sensory and Autonomic, Type Viii Hereditary Sensory and Autonomic Neuropathy Type 1
Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy

Diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Viii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 neuropathy 30.0 SCN11A RETREG1 NTRK1 NGF
2 autonomic neuropathy 30.0 SCN11A RETREG1 NTRK1 NGF
3 hereditary sensory neuropathy 29.8 RETREG1 PRDM12 NTRK1 NGF NAA50
4 factitious disorder 10.4 PRDM12 APELA
5 neurogenic arthropathy 10.4 NGF NAA50
6 neuropathy, hereditary sensory and autonomic, type iib 10.4 RETREG1 NAA50
7 cutaneous porphyria 10.3 FLVCR1 ALAS1
8 hereditary sensory and autonomic neuropathy type 1 10.3 RETREG1 PRDM12 NAA50
9 epiglottitis 10.2 HPX APELA
10 insensitivity to pain, congenital, with anhidrosis 10.2 NTRK1 NAA50
11 pain sensitivity quantitative trait locus 1 10.2
12 osteomyelitis 10.2
13 dental caries 10.2
14 trigeminal nerve disease 10.1 SCN11A NGF
15 hemochromatosis, type 5 10.1 FTL FTH1
16 cardiomyopathy, familial hypertrophic, 9 10.1 FTL FTH1
17 coproporphyria, hereditary 10.1 FLVCR1 ALAS1
18 porphyria, acute intermittent 10.1 HPX FLVCR1 ALAS1
19 porphyria 10.0 SLC40A1 HPX ALAS1
20 sweat gland disease 10.0 NTRK1 NGF NAA50
21 askin's tumor 10.0 NTRK1 NGF
22 neuropathy, hereditary sensory and autonomic, type iii 10.0 NTRK1 NGF NAA50
23 anhidrosis 10.0 NTRK1 NGF NAA50
24 porphyria cutanea tarda 10.0 SLC40A1 HPX ALAS1
25 ocular cicatricial pemphigoid 10.0 NTRK1 NGF
26 vascular dementia 9.9 SOD1 RETREG1 NGF
27 neurodegeneration with brain iron accumulation 9.9 SLC40A1 FTL FTH1
28 neurodegeneration with brain iron accumulation 3 9.9 FTL FTH1
29 spastic paraplegia 38, autosomal dominant 9.9 SOD1 FTL FTH1
30 neuropathy, hereditary sensory and autonomic, type v 9.8 RETREG1 NTRK1 NGF NAA50
31 neuropathy, hereditary sensory and autonomic, type iia 9.8 RETREG1 NTRK1 NGF NAA50
32 sideroblastic anemia 9.8 SOD2 SLC40A1 ALAS1
33 polyradiculopathy 9.8 NGF FTH1
34 charcot-marie-tooth disease, axonal, type 2e 9.7 SOD1 RETREG1 NGF NAA50
35 diabetic neuropathy 9.7 SOD2 NTRK1 NGF
36 sensory peripheral neuropathy 9.6 RETREG1 NTRK1 NGF NAA50 FLVCR1
37 tetrahydrobiopterin deficiency 9.6 SOD1 HPRT1
38 hemochromatosis, type 1 9.6 SOD1 SLC40A1 FTL FTH1
39 friedreich ataxia 9.5 SOD2 SOD1 SLC40A1
40 peripheral nervous system disease 9.5 SOD1 SCN11A NTRK1 NGF NAA50
41 charcot-marie-tooth disease 9.2 SOD1 SCN11A RETREG1 NTRK1 NGF NAA50
42 aceruloplasminemia 8.8 SOD2 SOD1 SLC40A1 FTL FTH1 FLVCR1
43 retinitis pigmentosa 7.8 SOD2 SOD1 NTRK1 NGF KCNMA1 HPRT1

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:

31
# Description HPO Frequency HPO Source Accession
1 hypohidrosis 31 HP:0000966
2 recurrent infections 31 HP:0002719
3 corneal scarring 31 HP:0000559
4 corneal ulceration 31 HP:0012804

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type Viii:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 FTH1 HPRT1 KCNA4 KCNMA1 NGF NTRK1
2 integument MP:0010771 9.81 FLVCR1 HPRT1 NGF NTRK1 RETREG1 SCN11A
3 mortality/aging MP:0010768 9.77 ALAS1 FLVCR1 FTH1 HPRT1 HPX KCNMA1
4 nervous system MP:0003631 9.36 FTH1 HPRT1 KCNA4 KCNMA1 NGF NTRK1

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:

40
Tongue, Brain, Eye, Bone, Skin

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. 56 6
26005867 2015
2
Congenital Insensitivity to Pain Overview 6
29419974 2018
3
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. 56
26975306 2016
4
The evolutionarily conserved transcription factor PRDM12 controls sensory neuron development and pain perception. 6
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. 61
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 26) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRDM12 PRDM12, (GCC)n REPEAT EXPANSIONNT expansion Pathogenic 253118 9:133556993-133556995 9:130681606-130681608
2 PRDM12 NM_021619.3(PRDM12):c.305T>A (p.Ile102Asn)SNV Pathogenic 253119 rs879255636 9:133542076-133542076 9:130666689-130666689
3 PRDM12 NM_021619.3(PRDM12):c.91G>T (p.Asp31Tyr)SNV Pathogenic 253120 rs879255637 9:133540131-133540131 9:130664744-130664744
4 PRDM12 NM_021619.3(PRDM12):c.516G>C (p.Glu172Asp)SNV Pathogenic 253121 rs755205487 9:133543646-133543646 9:130668259-130668259
5 PRDM12 NM_021619.3(PRDM12):c.866A>T (p.His289Leu)SNV Pathogenic 253122 rs879255638 9:133556818-133556818 9:130681431-130681431
6 PRDM12 NC_000009.12:g.130677193_130686925deldeletion Pathogenic 689497
7 PRDM12 NM_021619.3(PRDM12):c.1041_1043CGC[19] (p.Ala353_Ala359dup)short repeat Uncertain significance 475806 rs752427775 9:133556992-133556993 9:130681605-130681606
8 PRDM12 NM_021619.3(PRDM12):c.995C>A (p.Ala332Glu)SNV Uncertain significance 475818 rs773010364 9:133556947-133556947 9:130681560-130681560
9 PRDM12 NM_021619.3(PRDM12):c.1034_1039dup (p.Pro345_Ala346dup)duplication Uncertain significance 542460 rs1298266062 9:133556980-133556981 9:130681593-130681594
10 PRDM12 NM_021619.3(PRDM12):c.499G>A (p.Ala167Thr)SNV Uncertain significance 475815 rs1554752141 9:133543629-133543629 9:130668242-130668242
11 PRDM12 NM_021619.3(PRDM12):c.1044_1045insACC (p.Ala349_Ala350insThr)insertion Uncertain significance 475804 rs1429038624 9:133556994-133556995 9:130681607-130681608
12 PRDM12 NM_021619.3(PRDM12):c.1041_1043CGC[5] (p.Ala353_Ala359del)short repeat Uncertain significance 475805 rs752427775 9:133556993-133557013 9:130681606-130681626
13 PRDM12 NM_021619.3(PRDM12):c.1041_1043CGC[15] (p.Ala357_Ala359dup)short repeat Uncertain significance 475810 rs752427775 9:133556992-133556993 9:130681605-130681606
14 PRDM12 NM_021619.3(PRDM12):c.440G>A (p.Arg147His)SNV Uncertain significance 568097 rs139807684 9:133543570-133543570 9:130668183-130668183
15 PRDM12 NM_021619.3(PRDM12):c.1039C>G (p.Leu347Val)SNV Uncertain significance 568099 rs1564249877 9:133556991-133556991 9:130681604-130681604
16 PRDM12 NM_021619.3(PRDM12):c.1093A>G (p.Met365Val)SNV Uncertain significance 572708 rs1344661944 9:133557045-133557045 9:130681658-130681658
17 PRDM12 NM_021619.3(PRDM12):c.607G>A (p.Gly203Arg)SNV Uncertain significance 582663 rs375887892 9:133553952-133553952 9:130678565-130678565
18 PRDM12 NC_000009.11:g.(?_133553896)_(133554047_?)deldeletion Uncertain significance 584194 9:133553896-133554047 9:130678509-130678660
19 PRDM12 NM_021619.3(PRDM12):c.831C>G (p.Asn277Lys)SNV Uncertain significance 572393 rs995100590 9:133556783-133556783 9:130681396-130681396
20 PRDM12 NM_021619.3(PRDM12):c.995C>T (p.Ala332Val)SNV Uncertain significance 577727 rs773010364 9:133556947-133556947 9:130681560-130681560
21 PRDM12 NM_021619.3(PRDM12):c.1003C>A (p.Pro335Thr)SNV Uncertain significance 571567 rs1564249834 9:133556955-133556955 9:130681568-130681568
22 PRDM12 NM_021619.3(PRDM12):c.1022_1027ACGCGC[3] (p.341_342HA[3])short repeat Uncertain significance 571070 rs1288821918 9:133556970-133556971 9:130681583-130681584
23 PRDM12 NM_021619.3(PRDM12):c.979A>G (p.Ser327Gly)SNV Uncertain significance 660300 9:133556931-133556931 9:130681544-130681544
24 PRDM12 NM_021619.3(PRDM12):c.1041_1043CGC[11] (p.Ala359del)short repeat Uncertain significance 648392 9:133556993-133556995 9:130681606-130681608
25 PRDM12 NM_021619.3(PRDM12):c.711T>G (p.Ala237=)SNV Likely benign 475816 rs754277042 9:133556663-133556663 9:130681276-130681276
26 PRDM12 NM_021619.3(PRDM12):c.570+1GT[10]short repeat Likely benign 542461 rs138789124 9:133543700-133543701 9:130668313-130668314

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

73
# 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

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

Cellular components related to Neuropathy, Hereditary Sensory and Autonomic, Type Viii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.86 SOD2 SOD1 SCN11A NAA50 HPX HPRT1
2 axon GO:0030424 9.62 SCN11A NTRK1 NGF KCNA4
3 cell GO:0005623 9.5 SOD1 SLC40A1 KCNMA1 HPX FTL FTH1
4 autolysosome GO:0044754 9.16 FTL FTH1
5 intracellular ferritin complex GO:0008043 8.62 FTL FTH1

Biological processes related to Neuropathy, Hereditary Sensory and Autonomic, Type Viii according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 superoxide metabolic process GO:0006801 9.55 SOD2 SOD1
2 neurotrophin TRK receptor signaling pathway GO:0048011 9.54 NTRK1 NGF
3 sensory perception of pain GO:0019233 9.54 RETREG1 PRDM12 NTRK1
4 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.52 PRDM12 NTRK1
5 nerve growth factor signaling pathway GO:0038180 9.51 NTRK1 NGF
6 removal of superoxide radicals GO:0019430 9.49 SOD2 SOD1
7 relaxation of vascular smooth muscle GO:0060087 9.48 SOD1 KCNMA1
8 regulation of organ growth GO:0046620 9.46 SOD1 FLVCR1
9 heme transport GO:0015886 9.43 HPX FLVCR1
10 intracellular sequestering of iron ion GO:0006880 9.4 FTL FTH1
11 negative regulation of neuron apoptotic process GO:0043524 9.35 SOD2 SOD1 RETREG1 NTRK1 NGF
12 iron ion transport GO:0006826 9.33 SLC40A1 FTL FTH1
13 response to superoxide GO:0000303 9.32 SOD2 SOD1
14 response to carbon monoxide GO:0034465 9.26 SOD1 KCNMA1
15 cellular iron ion homeostasis GO:0006879 9.1 SOD1 SLC40A1 HPX FTL FTH1 FLVCR1

Molecular functions related to Neuropathy, Hereditary Sensory and Autonomic, Type Viii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.54 SCN11A KCNMA1 KCNA4
2 ferrous iron binding GO:0008198 9.4 FTL FTH1
3 ferric iron binding GO:0008199 9.32 FTL FTH1
4 ferroxidase activity GO:0004322 9.26 FTL FTH1
5 identical protein binding GO:0042802 9.23 SOD2 SOD1 SLC40A1 NTRK1 HPRT1 FTL
6 heme transporter activity GO:0015232 9.16 HPX FLVCR1
7 superoxide dismutase activity GO:0004784 8.96 SOD2 SOD1

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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