HSAN8
MCID: NRP044
MIFTS: 43

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, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste 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 58 72
Hereditary Sensory and Autonomic Neuropathy Type Viii 12 58 72
Hereditary Sensory and Autonomic Neuropathy Type 8 12 58 15
Hsan Viii 57 72
Neuropathy, Sensory and Autonomic, Hereditary, Type Viii 39
Neuropathy, Hereditary Sensory and Autonomic, 8 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 616488
OMIM Phenotypic Series 57 PS162400
MeSH 44 D009477
ICD10 via Orphanet 33 G60.8
Orphanet 58 ORPHA478664

Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Viii

UniProtKB/Swiss-Prot : 72 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), and among its related pathways/superpathways are Neuroscience and Oxidative Stress. Affiliated tissues include tongue and eye, and related phenotypes are hypohidrosis and corneal ulceration

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) (Updated 20-May-2021)

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 41)
# Related Disease Score Top Affiliating Genes
1 hereditary sensory neuropathy 30.1 RETREG1 NTRK1 NGF FLVCR1
2 autonomic neuropathy 29.9 SCN11A RETREG1 NTRK1 NGF FLVCR1
3 neuropathy 29.3 SOD2 SCN11A RETREG1 PRDM12 NTRK1 NGF
4 pain sensitivity quantitative trait locus 1 10.3
5 osteomyelitis 10.3
6 dental caries 10.3
7 cutaneous porphyria 10.2 FLVCR1 ALAS1
8 causalgia 10.1 SCN11A NGF
9 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 10.1 FLVCR1 ALAS1
10 trigeminal nerve disease 10.1 SCN11A NGF
11 low compliance bladder 10.1 NGF KCNMA1
12 femoral cancer 10.1 NTRK1 NGF
13 paroxysmal extreme pain disorder 10.0 SCN11A PRDM12 NGF
14 anemia, sideroblastic, 1 10.0 SLC40A1 FLVCR1 ALAS1
15 ocular cicatricial pemphigoid 10.0 NTRK1 NGF
16 neurogenic arthropathy 10.0 PRDM12 NTRK1 NGF
17 porphyria, acute intermittent 10.0 HMOX1 FLVCR1 ALAS1
18 diabetic encephalopathy 10.0 NGF HMOX1
19 trigeminal neuralgia 10.0 SCN11A NTRK1 NGF
20 sweat gland disease 10.0 NTRK1 NGF
21 protoporphyria, erythropoietic, 1 10.0 HMOX1 ALAS1
22 neuropathy, hereditary sensory and autonomic, type iii 9.9 RETREG1 NTRK1 NGF
23 autonomic nervous system disease 9.9 SCN11A NGF
24 porphyria 9.9 SLC40A1 HMOX1 ALAS1
25 sideroblastic anemia 9.9 SOD2 SLC40A1 ALAS1
26 diabetic polyneuropathy 9.8 SOD2 NGF
27 neuropathy, hereditary sensory and autonomic, type v 9.8 SCN11A RETREG1 NTRK1 NGF
28 neuropathy, hereditary sensory and autonomic, type iia 9.8 RETREG1 NTRK1 NGF FLVCR1
29 diabetic neuropathy 9.8 SOD2 NTRK1 NGF
30 erysipelas 9.7 SOD2 SOD1
31 vascular dementia 9.7 SOD1 RETREG1 NGF
32 sensory peripheral neuropathy 9.7 SCN11A RETREG1 NTRK1 NGF FLVCR1
33 tetrahydrobiopterin deficiency 9.7 SOD1 HPRT1
34 toxic encephalopathy 9.6 SOD1 NGF HMOX1
35 aceruloplasminemia 9.5 SOD2 SOD1 SLC40A1 FLVCR1
36 charcot-marie-tooth disease 9.3 SOD1 SCN11A RETREG1 NTRK1 NGF
37 peripheral nervous system disease 9.2 SOD1 SCN11A NTRK1 NGF HMOX1
38 deficiency anemia 9.1 SOD1 SLC40A1 HPRT1 HMOX1 FLVCR1
39 amyotrophic lateral sclerosis 1 8.8 SOD2 SOD1 SLC40A1 NTRK1 NGF
40 retinitis pigmentosa 8.6 SOD2 SOD1 NTRK1 NGF HPRT1 HMOX1
41 disease of mental health 8.4 SOD2 SOD1 SCN11A NTRK1 NGF KCNMA1

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 corneal ulceration 31 HP:0012804
3 recurrent infections 31 HP:0002719
4 corneal scarring 31 HP:0000559

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.23 ALAS1 HMOX1 HPRT1 KCNA4 NTRK1 SLC40A1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.23 HMOX1 HPRT1 KCNA4 KCNMA1 NGF NTRK1
2 growth/size/body region MP:0005378 10.18 ALAS1 FLVCR1 HMOX1 HPRT1 KCNMA1 NGF
3 cardiovascular system MP:0005385 10.03 FLVCR1 HMOX1 HPRT1 KCNMA1 NGF SLC40A1
4 integument MP:0010771 10.02 FLVCR1 HPRT1 NGF NTRK1 PRDM12 RETREG1
5 mortality/aging MP:0010768 10 ALAS1 FLVCR1 HMOX1 HPRT1 KCNMA1 NGF
6 hearing/vestibular/ear MP:0005377 9.77 HPRT1 KCNMA1 NTRK1 SOD1 SOD2
7 muscle MP:0005369 9.7 HMOX1 HPRT1 KCNMA1 NGF NTRK1 SOD1
8 nervous system MP:0003631 9.7 HPRT1 KCNA4 KCNMA1 NGF NTRK1 PRDM12
9 renal/urinary system MP:0005367 9.1 FLVCR1 HMOX1 HPRT1 KCNMA1 SLC40A1 SOD2

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, Eye

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. 57 6
26005867 2015
2
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
3
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. 57
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 50)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRDM12 NM_021619.3(PRDM12):c.305T>A (p.Ile102Asn) SNV Pathogenic 253119 rs879255636 GRCh37: 9:133542076-133542076
GRCh38: 9:130666689-130666689
2 PRDM12 NM_021619.3(PRDM12):c.866A>T (p.His289Leu) SNV Pathogenic 253122 rs879255638 GRCh37: 9:133556818-133556818
GRCh38: 9:130681431-130681431
3 PRDM12 NM_021619.3(PRDM12):c.91G>T (p.Asp31Tyr) SNV Pathogenic 253120 rs879255637 GRCh37: 9:133540131-133540131
GRCh38: 9:130664744-130664744
4 PRDM12 NM_021619.3(PRDM12):c.1041CGC[(15_?)] Microsatellite Pathogenic 253118 GRCh37: 9:133556993-133556995
GRCh38: 9:130681606-130681608
5 PRDM12 GRCh37/hg19 9q34.12(chr9:133553916-133554028) copy number loss Pathogenic 916004 GRCh37: 9:133553916-133554028
GRCh38:
6 PRDM12 NC_000009.12:g.130677193_130686925del Deletion Pathogenic 689497 GRCh37: 9:133552559-133562291
GRCh38: 9:130677172-130686904
7 PRDM12 NM_021619.3(PRDM12):c.516G>C (p.Glu172Asp) SNV Pathogenic 253121 rs755205487 GRCh37: 9:133543646-133543646
GRCh38: 9:130668259-130668259
8 PRDM12 NM_021619.3(PRDM12):c.1041_1043CGC[18] (p.Ala354_Ala359dup) Microsatellite Likely pathogenic 848182 GRCh37: 9:133556992-133556993
GRCh38: 9:130681605-130681606
9 PRDM12 NM_021619.3(PRDM12):c.1041_1043CGC[5] (p.Ala353_Ala359del) Microsatellite Uncertain significance 475805 rs752427775 GRCh37: 9:133556993-133557013
GRCh38: 9:130681606-130681626
10 PRDM12 NM_021619.3(PRDM12):c.499G>A (p.Ala167Thr) SNV Uncertain significance 475815 rs1554752141 GRCh37: 9:133543629-133543629
GRCh38: 9:130668242-130668242
11 PRDM12 NC_000009.12:g.(?_130664644)_(130681679_?)dup Duplication Uncertain significance 833047 GRCh37: 9:133540031-133557066
GRCh38:
12 PRDM12 NC_000009.12:g.(?_130678509)_(130678660_?)del Deletion Uncertain significance 584194 GRCh37: 9:133553896-133554047
GRCh38: 9:130678509-130678660
13 PRDM12 NM_021619.3(PRDM12):c.440G>A (p.Arg147His) SNV Uncertain significance 568097 rs139807684 GRCh37: 9:133543570-133543570
GRCh38: 9:130668183-130668183
14 PRDM12 NM_021619.3(PRDM12):c.1039C>G (p.Leu347Val) SNV Uncertain significance 568099 rs1564249877 GRCh37: 9:133556991-133556991
GRCh38: 9:130681604-130681604
15 PRDM12 NM_021619.3(PRDM12):c.1003C>A (p.Pro335Thr) SNV Uncertain significance 571567 rs1564249834 GRCh37: 9:133556955-133556955
GRCh38: 9:130681568-130681568
16 PRDM12 NM_021619.3(PRDM12):c.831C>G (p.Asn277Lys) SNV Uncertain significance 572393 rs995100590 GRCh37: 9:133556783-133556783
GRCh38: 9:130681396-130681396
17 PRDM12 NM_021619.3(PRDM12):c.1093A>G (p.Met365Val) SNV Uncertain significance 572708 rs1344661944 GRCh37: 9:133557045-133557045
GRCh38: 9:130681658-130681658
18 PRDM12 NM_021619.3(PRDM12):c.995C>T (p.Ala332Val) SNV Uncertain significance 577727 rs773010364 GRCh37: 9:133556947-133556947
GRCh38: 9:130681560-130681560
19 PRDM12 NM_021619.3(PRDM12):c.1041_1043CGC[11] (p.Ala359del) Microsatellite Uncertain significance 648392 rs752427775 GRCh37: 9:133556993-133556995
GRCh38: 9:130681606-130681608
20 PRDM12 NM_021619.3(PRDM12):c.979A>G (p.Ser327Gly) SNV Uncertain significance 660300 rs1588190015 GRCh37: 9:133556931-133556931
GRCh38: 9:130681544-130681544
21 PRDM12 NM_021619.3(PRDM12):c.1032_1043dup (p.Pro345_Ala348dup) Duplication Uncertain significance 938908 GRCh37: 9:133556980-133556981
GRCh38: 9:130681593-130681594
22 PRDM12 NM_021619.3(PRDM12):c.1041_1043CGC[19] (p.Ala353_Ala359dup) Microsatellite Uncertain significance 475806 rs752427775 GRCh37: 9:133556992-133556993
GRCh38: 9:130681605-130681606
23 PRDM12 NM_021619.3(PRDM12):c.1034_1039dup (p.Pro345_Ala346dup) Duplication Uncertain significance 542460 rs1298266062 GRCh37: 9:133556980-133556981
GRCh38: 9:130681593-130681594
24 PRDM12 NM_021619.3(PRDM12):c.337G>A (p.Glu113Lys) SNV Uncertain significance 937567 GRCh37: 9:133542108-133542108
GRCh38: 9:130666721-130666721
25 PRDM12 NM_021619.3(PRDM12):c.1049_1050insTGC (p.Ala359dup) Insertion Uncertain significance 950694 GRCh37: 9:133556999-133557000
GRCh38: 9:130681612-130681613
26 PRDM12 NM_021619.3(PRDM12):c.1028A>C (p.His343Pro) SNV Uncertain significance 854535 GRCh37: 9:133556980-133556980
GRCh38: 9:130681593-130681593
27 PRDM12 NM_021619.3(PRDM12):c.1044_1045insACC (p.Ala349_Ala350insThr) Insertion Uncertain significance 475804 rs1429038624 GRCh37: 9:133556994-133556995
GRCh38: 9:130681607-130681608
28 PRDM12 NM_021619.3(PRDM12):c.986C>T (p.Ala329Val) SNV Uncertain significance 944616 GRCh37: 9:133556938-133556938
GRCh38: 9:130681551-130681551
29 PRDM12 NM_021619.3(PRDM12):c.503G>A (p.Arg168His) SNV Uncertain significance 955687 GRCh37: 9:133543633-133543633
GRCh38: 9:130668246-130668246
30 PRDM12 NM_021619.3(PRDM12):c.729G>A (p.Met243Ile) SNV Uncertain significance 961753 GRCh37: 9:133556681-133556681
GRCh38: 9:130681294-130681294
31 PRDM12 NM_021619.3(PRDM12):c.433A>C (p.Thr145Pro) SNV Uncertain significance 1039766 GRCh37: 9:133543563-133543563
GRCh38: 9:130668176-130668176
32 PRDM12 NM_021619.3(PRDM12):c.1022_1027ACGCGC[3] (p.341_342HA[3]) Microsatellite Uncertain significance 571070 rs1288821918 GRCh37: 9:133556970-133556971
GRCh38: 9:130681583-130681584
33 PRDM12 NM_021619.3(PRDM12):c.620A>G (p.Asn207Ser) SNV Uncertain significance 849430 GRCh37: 9:133553965-133553965
GRCh38: 9:130678578-130678578
34 PRDM12 NM_021619.3(PRDM12):c.1041_1043CGC[15] (p.Ala357_Ala359dup) Microsatellite Uncertain significance 475810 rs752427775 GRCh37: 9:133556992-133556993
GRCh38: 9:130681605-130681606
35 PRDM12 NM_021619.3(PRDM12):c.1041_1043CGC[17] (p.Ala355_Ala359dup) Microsatellite Uncertain significance 848087 GRCh37: 9:133556992-133556993
GRCh38: 9:130681605-130681606
36 PRDM12 NM_021619.3(PRDM12):c.570+1GT[10] Microsatellite Likely benign 542461 rs138789124 GRCh37: 9:133543700-133543701
GRCh38: 9:130668313-130668314
37 PRDM12 NM_021619.3(PRDM12):c.540C>T (p.Ile180=) SNV Likely benign 702870 rs145300834 GRCh37: 9:133543670-133543670
GRCh38: 9:130668283-130668283
38 PRDM12 NM_021619.3(PRDM12):c.1041_1043CGC[8] (p.Ala356_Ala359del) Microsatellite Likely benign 542462 rs752427775 GRCh37: 9:133556993-133557004
GRCh38: 9:130681606-130681617
39 PRDM12 NM_021619.3(PRDM12):c.995C>A (p.Ala332Glu) SNV Likely benign 475818 rs773010364 GRCh37: 9:133556947-133556947
GRCh38: 9:130681560-130681560
40 PRDM12 NM_021619.3(PRDM12):c.711T>G (p.Ala237=) SNV Likely benign 475816 rs754277042 GRCh37: 9:133556663-133556663
GRCh38: 9:130681276-130681276
41 PRDM12 NM_021619.3(PRDM12):c.426G>A (p.Glu142=) SNV Likely benign 475814 rs139493961 GRCh37: 9:133543556-133543556
GRCh38: 9:130668169-130668169
42 PRDM12 NM_021619.3(PRDM12):c.1041_1043CGC[10] (p.Ala358_Ala359del) Microsatellite Benign 475811 rs752427775 GRCh37: 9:133556993-133556998
GRCh38: 9:130681606-130681611
43 PRDM12 NM_021619.3(PRDM12):c.855G>A (p.Thr285=) SNV Benign 475817 rs76175818 GRCh37: 9:133556807-133556807
GRCh38: 9:130681420-130681420
44 PRDM12 NM_021619.3(PRDM12):c.1041_1043CGC[9] (p.Ala357_Ala359del) Microsatellite Benign 475809 rs752427775 GRCh37: 9:133556993-133557001
GRCh38: 9:130681606-130681614
45 PRDM12 NM_021619.3(PRDM12):c.1041_1043CGC[14] (p.Ala358_Ala359dup) Microsatellite Benign 475812 rs752427775 GRCh37: 9:133556992-133556993
GRCh38: 9:130681605-130681606
46 PRDM12 NM_021619.3(PRDM12):c.1041_1043CGC[6] (p.Ala354_Ala359del) Microsatellite Benign 475807 rs752427775 GRCh37: 9:133556993-133557010
GRCh38: 9:130681606-130681623
47 PRDM12 NM_021619.3(PRDM12):c.1041_1043CGC[13] (p.Ala359dup) Microsatellite Benign 475813 rs752427775 GRCh37: 9:133556992-133556993
GRCh38: 9:130681605-130681606
48 PRDM12 NM_021619.3(PRDM12):c.1041_1043CGC[7] (p.Ala355_Ala359del) Microsatellite Benign 475808 rs752427775 GRCh37: 9:133556993-133557007
GRCh38: 9:130681606-130681620
49 PRDM12 NM_021619.3(PRDM12):c.1041_1043CGC[16] (p.Ala356_Ala359dup) Microsatellite Benign 542463 rs752427775 GRCh37: 9:133556992-133556993
GRCh38: 9:130681605-130681606
50 PRDM12 NM_021619.3(PRDM12):c.607G>A (p.Gly203Arg) SNV Benign 582663 rs375887892 GRCh37: 9:133553952-133553952
GRCh38: 9:130678565-130678565

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

72
# 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

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

# Super pathways Score Top Affiliating Genes
1 11.99 SOD1 SCN11A NTRK1 NGF
2 10.29 SOD2 SOD1 HMOX1
3
Show member pathways
10 NTRK1 NGF

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 axon GO:0030424 8.92 SCN11A NTRK1 NGF KCNA4

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.95 SOD2 SOD1 NTRK1 NGF
2 negative regulation of cell proliferation GO:0008285 9.91 SOD2 NTRK1 NGF HMOX1
3 positive regulation of apoptotic process GO:0043065 9.86 SOD1 NGF KCNMA1 HMOX1
4 aging GO:0007568 9.79 SOD2 SOD1 NTRK1
5 regulation of ion transmembrane transport GO:0034765 9.77 SCN11A KCNMA1 KCNA4
6 response to oxidative stress GO:0006979 9.75 SOD2 SOD1 HMOX1
7 response to nutrient levels GO:0031667 9.67 SOD2 SOD1 NTRK1
8 positive regulation of Ras protein signal transduction GO:0046579 9.64 NTRK1 NGF
9 response to nicotine GO:0035094 9.64 NTRK1 HMOX1
10 response to axon injury GO:0048678 9.63 SOD1 NTRK1
11 response to radiation GO:0009314 9.63 SOD2 NTRK1
12 regulation of blood pressure GO:0008217 9.63 SOD2 SOD1 HMOX1
13 response to amphetamine GO:0001975 9.62 SOD1 HPRT1
14 response to hypoxia GO:0001666 9.62 SOD2 KCNMA1 HMOX1 ALAS1
15 response to electrical stimulus GO:0051602 9.61 SOD2 NTRK1
16 response to hydrogen peroxide GO:0042542 9.61 SOD2 SOD1 HMOX1
17 superoxide metabolic process GO:0006801 9.59 SOD2 SOD1
18 neurotrophin TRK receptor signaling pathway GO:0048011 9.58 NTRK1 NGF
19 detection of temperature stimulus involved in sensory perception of pain GO:0050965 9.57 PRDM12 NTRK1
20 removal of superoxide radicals GO:0019430 9.55 SOD2 SOD1
21 response to drug GO:0042493 9.55 SOD2 SOD1 SCN11A NTRK1 HMOX1
22 nerve growth factor signaling pathway GO:0038180 9.54 NTRK1 NGF
23 sensory perception of pain GO:0019233 9.54 RETREG1 PRDM12 NTRK1
24 hydrogen peroxide biosynthetic process GO:0050665 9.52 SOD2 SOD1
25 regulation of organ growth GO:0046620 9.51 SOD1 FLVCR1
26 relaxation of vascular smooth muscle GO:0060087 9.48 SOD1 KCNMA1
27 response to superoxide GO:0000303 9.4 SOD2 SOD1
28 response to carbon monoxide GO:0034465 9.26 SOD1 KCNMA1
29 cellular iron ion homeostasis GO:0006879 9.26 SOD1 SLC40A1 HMOX1 FLVCR1
30 negative regulation of neuron apoptotic process GO:0043524 9.1 SOD2 SOD1 RETREG1 NTRK1 NGF HMOX1

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 identical protein binding GO:0042802 9.5 SOD2 SOD1 NTRK1 KCNMA1 HPRT1 HMOX1
2 ion channel activity GO:0005216 9.43 SCN11A KCNMA1 KCNA4
3 voltage-gated ion channel activity GO:0005244 9.33 SCN11A KCNMA1 KCNA4
4 superoxide dismutase activity GO:0004784 8.62 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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