MCID: NRP053
MIFTS: 46

Neuropathy, Hereditary Sensory and Autonomic, Type Iia

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

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

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

Name: Neuropathy, Hereditary Sensory and Autonomic, Type Iia 57 73
Hereditary Sensory and Autonomic Neuropathy Type Ii 12 24 25 59 29 6
Hsan2 12 24 53 25 59
Hereditary Sensory and Autonomic Neuropathy Type Iia 12 75 29 6
Hereditary Sensory and Autonomic Neuropathy Type 2 12 53 25 59
Morvan Disease 57 53 25 75
Hsan2a 57 12 25 75
Neurogenic Acroosteolysis 53 59 75
Neuropathy, Hereditary Sensory and Autonomic, Type Ii 57 13
Neuropathy, Progressive Sensory, of Children 57 53
Neuropathy, Congenital Sensory 57 53
Congenital Sensory Neuropathy 25 75
Hsan Type Ii 25 55
Hsan Iia 57 75
Hsn Iia 57 75
Hsanii 24 25
Hsn2a 57 75
Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome 59
Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive 57
Hereditary Sensory Radicular Neuropathy Autosomal Recessive 75
Hereditary Sensory Radicular Neuropathy, Recessive Form 53
Neuropathy, Sensory and Autonomic, Hereditary, Type Iia 40
Neuropathy, Hereditary Sensory and Autonomic, Type Iib 73
Hereditary Sensory and Autonomic Neuropathy Type 2a 12
Autosomal Recessive Sensory Radicular Neuropathy 59
Neuropathy, Hereditary Sensory and Autonomic, 2a 75
Neuropathy, Hereditary Sensory, Type Iia; Hsn2a 57
Hereditary Motor and Sensory-Neuropathy Type Ii 73
Hereditary Sensory Autonomic Neuropathy, Type 2 73
Hereditary Sensoryautonomic Neuropathy Type 2 24
Progressive Sensory Neuropathy of Children 75
Neuropathy, Hereditary Sensory, Type Iia 57
Hereditary Sensory Neuropathy Type Iia 75
Hereditary Sensory Neuropathy Type 2 53
Sensory Neuropathy, Hereditary 73
Neuropathy Congenital Sensory 55
Acroosteolysis, Giaccai Type 57
Giaccai Type Acroosteolysis 53
Acroosteolysis Giaccai Type 75
Acroosteolysis, Neurogenic 57
Morvan's Fibrillary Chorea 59
Morvan's Disease 73
Morvan Syndrome 59
Hsn Type Ii 25
Hsan2b 25
Hsan2c 25
Hsan2d 25

Characteristics:

Orphanet epidemiological data:

59
hereditary sensory and autonomic neuropathy type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
slow progression
high disease prevalence among french-canadians


HPO:

32
neuropathy, hereditary sensory and autonomic, type iia:
Onset and clinical course infantile onset slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Iia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 970Disease definitionHereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.EpidemiologyThe exact prevalence is unknown, but is estimated as very low (less than 50 cases reported). There is no sex preference or particular ethnic preponderance, and to date there is no increased incidence of consanguinity.Clinical descriptionHSAN2 presents in infancy or early childhood and is non-progressive. Initial symptoms (from birth to 3 years) include severe swallowing and feeding problems, frequent apnea, self-mutilation, and delayed development. Gastroesophageal reflux is common. Sensory dysfunction is manifested by absent pain perception, severely decreased temperature perception, and depressed deep tendon reflexes (with no muscle atrophy or muscle weakness). Position sense, taste sensation, and corneal and gag reflexes may be diminished. Vibration sense may be normal. Trophic changes are present in the upper and lower extremities. HSAN2 is associated with frequent occurrence of unrecognized injuries and fractures of hands, feet, and limbs, as well as Charcot joints. Hearing loss is reported in about 30% of patients and postural hypotention in about 25% of patients. Pupils have an exaggerated response to parasympathomimetic agents; overflow tearing is frequently delayed. Hyperhydrosis and patchy areas of anhidrosis occur occasionally. Absent axon flare (following intradermal histamine) and lack of fungiform papilla on the tongue are characteristic features of HSAN2.EtiologyThe HSAN2 disease locus was located at chromosome region 12p13.33.Diagnostic methodsAs there is no DNA molecular testing available, diagnosis is based upon clinical features (finding of a mutilating acropathy with a severe, distally pronounced impairment of all sensory qualities) as well as the degree of both sensory and autonomic dysfunction. Neurophysiological evaluation, electromyogram and electroencephalographic studies support the diagnosis.Differential diagnosisDifferential diagnosis includes the other hereditary sensory and autonomic neuropathies.Genetic counselingPenetrance is always complete, but disease expression is variable. HSAN2 occurs sporadically or with autosomal recessive inheritance.Management and treatmentManagement is symptomatic and preventative. If feeding problems compromise nutrition and if gastroesophageal reflux is also present, fundoplication with gastrostomy is recommended. Parents' and patients' education is required to learn how to avoid injury and be alert for signs of unrecognized trauma.Visit the Orphanet disease page for more resources.

MalaCards based summary : Neuropathy, Hereditary Sensory and Autonomic, Type Iia, also known as hereditary sensory and autonomic neuropathy type ii, is related to hereditary sensory neuropathy and neuropathy. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Iia is WNK1 (WNK Lysine Deficient Protein Kinase 1). Affiliated tissues include brain, heart and testes, and related phenotypes are abnormality of epiphysis morphology and hyperhidrosis

UniProtKB/Swiss-Prot : 75 Neuropathy, hereditary sensory and autonomic, 2A: 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. HSAN2A is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation, onset of symptoms in infancy or early childhood, occurrence of distal extremity pathologies (paronychia, whitlows, ulcers, and Charcot joints), frequent amputations, sensory loss that affects all modalities of sensation (lower and upper limbs and perhaps the trunk as well), absence or diminution of tendon reflexes (usually in all limbs), minimal autonomic dysfunction, absence of sensory nerve action potentials, and virtual absence of myelinated fibers with decreased numbers of unmyelinated fibers in sural nerves.

Genetics Home Reference : 25 Hereditary sensory and autonomic neuropathy type II (HSAN2) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch to the brain. These sensations are impaired in people with HSAN2. In some affected people, the condition may also cause mild abnormalities of the autonomic neurons, which control involuntary body functions such as heart rate, digestion, and breathing. The sensory and autonomic neurons are part of the body's peripheral nervous system, which comprises the nerves outside the brain and spinal cord. HSAN2 is considered a form of peripheral neuropathy.

Disease Ontology : 12 A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood.

Description from OMIM: 201300
GeneReviews: NBK49247

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

Diseases in the Neuropathy, Hereditary Sensory and Autonomic, Type Iia family:

Neuropathy, Hereditary Sensory and Autonomic, Type Ia 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

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

(show all 21)
# Related Disease Score Top Affiliating Genes
1 hereditary sensory neuropathy 28.6 ELP1 KIF1A RETREG1 WNK1
2 neuropathy 26.6 ELP1 KIF1A RETREG1 SCN9A WNK1
3 indifference to pain, congenital, autosomal recessive 11.6
4 insensitivity to pain, congenital, with anhidrosis 11.2
5 neuropathy, hereditary sensory and autonomic, type v 11.2
6 neuropathy, hereditary sensory and autonomic, type iib 10.9
7 myasthenia gravis 10.0
8 myasthenia gravis congenital 10.0
9 sensory peripheral neuropathy 9.9
10 autoimmune disease 9.8
11 autoimmune disease 1 9.8
12 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
13 thymoma 9.8
14 polyradiculoneuropathy 9.8
15 chronic inflammatory demyelinating polyradiculoneuropathy 9.8
16 hydrocele 9.8
17 syndrome of inappropriate antidiuretic hormone 9.8
18 peripheral nervous system disease 9.4 ELP1 SCN9A
19 autonomic dysfunction 9.3 RETREG1 SCN9A WNK1
20 hyperlipoproteinemia, type iv 9.2 APOB ELP1
21 autonomic neuropathy 8.1 ELP1 KIF1A RETREG1 SCN9A WNK1

Comorbidity relations with Neuropathy, Hereditary Sensory and Autonomic, Type Iia via Phenotypic Disease Network (PDN):


Acute Cystitis Hypertension, Essential

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



Diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Iia

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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
gastroesophageal reflux
poor feeding

Skin Nails Hair Nails:
paronychia

Skeletal Hands:
acroosteolysis
acral ulceration leading to autoamputation of digits

Head And Neck Eyes:
impaired corneal reflex

Skin Nails Hair Skin:
hyperhidrosis, episodic
anhidrosis, patchy
ulcerations of distal extremities

Laboratory Abnormalities:
decreased axonal flare response after intradermal histamine injection

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
decreased taste sensation
hypotonia
impaired corneal reflex
more
Head And Neck Mouth:
decreased taste sensation

Skeletal Feet:
acroosteolysis
acral ulceration leading to autoamputation of digits

Skeletal:
painless fractures due to injury
neurogenic joint degeneration

Muscle Soft Tissue:
muscle strength and bulk is preserved


Clinical features from OMIM:

201300

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

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
2 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
3 hyperlordosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003307
4 abnormal cortical bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0003103
5 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
6 wormian bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0002645
7 abnormality of the hip bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003272
8 reduced bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004349
9 abnormality of the ankles 59 32 hallmark (90%) Very frequent (99-80%) HP:0003028
10 tapered finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0001182
11 dystrophic toenail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001810
12 dystrophic fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0008391
13 abnormality of the knee 59 32 hallmark (90%) Very frequent (99-80%) HP:0002815
14 muscular hypotonia 32 HP:0001252
15 gastroesophageal reflux 32 HP:0002020
16 feeding difficulties in infancy 32 HP:0008872
17 abnormality of the eye 32 HP:0000478
18 abnormality of metabolism/homeostasis 32 HP:0001939
19 peripheral neuropathy 32 HP:0009830
20 decreased nerve conduction velocity 32 HP:0000762
21 areflexia 32 HP:0001284
22 hyporeflexia 32 HP:0001265
23 osteolysis 59 Very frequent (99-80%)
24 anhidrosis 32 HP:0000970
25 generalized hypotonia 32 HP:0001290
26 paronychia 32 HP:0001818
27 acroosteolysis (feet) 59 Very frequent (99-80%)
28 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
29 osteolytic defects of the phalanges of the hand 32 HP:0009771
30 decreased taste sensation 32 HP:0000224
31 episodic hyperhidrosis 32 HP:0001069
32 decreased sensory nerve conduction velocity 32 HP:0003448
33 painless fractures due to injury 32 HP:0002661
34 acral ulceration leading to autoamputation of digits 32 HP:0006121
35 foot acroosteolysis 32 hallmark (90%) HP:0001842

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.65 APOB ELP1 KIF1A SCN9A WNK1
2 integument MP:0010771 9.46 ELP1 KIF1A RETREG1 SCN9A
3 nervous system MP:0003631 9.43 APOB ELP1 KIF1A RETREG1 SCN9A WNK1
4 taste/olfaction MP:0005394 8.62 SCN9A ELP1

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Not yet recruiting NCT03550300

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

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

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

# Genetic test Affiliating Genes
1 Hereditary Sensory and Autonomic Neuropathy Type Iia 29 KIF1A RETREG1 SCN9A WNK1
2 Hereditary Sensory and Autonomic Neuropathy Type Ii 29

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

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

41
Brain, Heart, Testes, Tongue, Bone, Spinal Cord, Eye

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Iia

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

# Title Authors Year
1
Repeated hyperhidrosis and chilblain-like swelling with ulceration of the fingers and toes in hereditary sensory and autonomic neuropathy type II. ( 29701257 )
2018
2
Arthropathy-related pain in a patient with congenital impairment of pain sensation due to hereditary sensory and autonomic neuropathy type II with a rare mutation in the WNK1/HSN2 gene: a case report. ( 27765018 )
2016
3
Treatment of life-threatening self-injurious behavior secondary to hereditary sensory and autonomic neuropathy type II: a controlled case study. ( 18184934 )
2008
4
Hereditary sensory and autonomic neuropathies: types II, III, and IV. ( 17915006 )
2007
5
Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II. ( 16534117 )
2006
6
A case of hereditary sensory and autonomic neuropathy type II with plantar ulceration. ( 16836519 )
2006
7
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the study of Canadian genetic isolates. ( 15060842 )
2004
8
Hereditary sensory and autonomic neuropathy type II. ( 20952894 )
1995
9
Hereditary Sensory and Autonomic Neuropathy Type II ( 21089229 )
1993

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type Iia

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

6
(show top 50) (show all 1292)
# Gene Variation Type Significance SNP ID Assembly Location
1 RETREG1 NM_001034850.2(RETREG1): c.926C> G (p.Ser309Ter) single nucleotide variant Pathogenic rs137852739 GRCh37 Chromosome 5, 16477845: 16477845
2 RETREG1 NM_001034850.2(RETREG1): c.926C> G (p.Ser309Ter) single nucleotide variant Pathogenic rs137852739 GRCh38 Chromosome 5, 16477736: 16477736
3 RETREG1 NM_001034850.2(RETREG1): c.433C> T (p.Gln145Ter) single nucleotide variant Pathogenic rs137852737 GRCh37 Chromosome 5, 16565897: 16565897
4 RETREG1 NM_001034850.2(RETREG1): c.433C> T (p.Gln145Ter) single nucleotide variant Pathogenic rs137852737 GRCh38 Chromosome 5, 16565788: 16565788
5 WNK1 WNK1, 1-BP DEL, 594A deletion Pathogenic
6 WNK1 NM_213655.4(WNK1): c.2575C> T (p.Gln859Ter) single nucleotide variant Pathogenic rs111033592 GRCh37 Chromosome 12, 977212: 977212
7 WNK1 NM_213655.4(WNK1): c.2575C> T (p.Gln859Ter) single nucleotide variant Pathogenic rs111033592 GRCh38 Chromosome 12, 868046: 868046
8 WNK1 WNK1, 1-BP INS, 918A insertion Pathogenic
9 WNK1 NM_001184985.1(WNK1): c.3046C> T (p.Gln1016Ter) single nucleotide variant Pathogenic rs111033590 GRCh37 Chromosome 12, 977938: 977938
10 WNK1 NM_001184985.1(WNK1): c.3046C> T (p.Gln1016Ter) single nucleotide variant Pathogenic rs111033590 GRCh38 Chromosome 12, 868772: 868772
11 WNK1 WNK1, 1-BP DEL, 947C deletion Pathogenic
12 WNK1 NM_213655.4(WNK1): c.3226C> T (p.Arg1076Ter) single nucleotide variant Pathogenic rs111033591 GRCh37 Chromosome 12, 977863: 977863
13 WNK1 NM_213655.4(WNK1): c.3226C> T (p.Arg1076Ter) single nucleotide variant Pathogenic rs111033591 GRCh38 Chromosome 12, 868697: 868697
14 WNK1 WNK1, 1-BP INS, 1134T insertion Pathogenic
15 WNK1 NM_213655.4(WNK1): c.2999delG (p.Arg1000Asnfs) deletion Pathogenic rs387906331 GRCh37 Chromosome 12, 977636: 977636
16 WNK1 NM_213655.4(WNK1): c.2999delG (p.Arg1000Asnfs) deletion Pathogenic rs387906331 GRCh38 Chromosome 12, 868470: 868470
17 WNK1 NM_213655.4(WNK1): c.1591_1592delGA (p.Asp531Cysfs) deletion Pathogenic rs387906332 GRCh37 Chromosome 12, 968601: 968602
18 WNK1 NM_213655.4(WNK1): c.1591_1592delGA (p.Asp531Cysfs) deletion Pathogenic rs387906332 GRCh38 Chromosome 12, 859435: 859436
19 SCN9A NM_002977.3(SCN9A): c.2986C> T (p.Arg996Cys) single nucleotide variant Likely pathogenic rs121908910 GRCh37 Chromosome 2, 167129241: 167129241
20 SCN9A NM_002977.3(SCN9A): c.2986C> T (p.Arg996Cys) single nucleotide variant Likely pathogenic rs121908910 GRCh38 Chromosome 2, 166272731: 166272731
21 RETREG1 NM_001034850.2(RETREG1): c.18_19delTC (p.Pro7Glyfs) deletion Pathogenic rs137852736 GRCh37 Chromosome 5, 16617062: 16617063
22 RETREG1 NM_001034850.2(RETREG1): c.18_19delTC (p.Pro7Glyfs) deletion Pathogenic rs137852736 GRCh38 Chromosome 5, 16616953: 16616954
23 RETREG1 NM_001034850.2(RETREG1): c.873+2T> C single nucleotide variant Pathogenic rs137852738 GRCh37 Chromosome 5, 16478141: 16478141
24 RETREG1 NM_001034850.2(RETREG1): c.873+2T> C single nucleotide variant Pathogenic rs137852738 GRCh38 Chromosome 5, 16478032: 16478032
25 WNK1 NM_001184985.1(WNK1): c.2697delA (p.Glu899Aspfs) deletion Pathogenic rs137852734 GRCh37 Chromosome 12, 977589: 977589
26 WNK1 NM_001184985.1(WNK1): c.2697delA (p.Glu899Aspfs) deletion Pathogenic rs137852734 GRCh38 Chromosome 12, 868423: 868423
27 WNK1 NM_001184985.1(WNK1): c.3021dupA (p.Ser1008Ilefs) duplication Pathogenic rs137852735 GRCh37 Chromosome 12, 977913: 977913
28 WNK1 NM_001184985.1(WNK1): c.3021dupA (p.Ser1008Ilefs) duplication Pathogenic rs137852735 GRCh38 Chromosome 12, 868747: 868747
29 KIF1A NM_001244008.1(KIF1A): c.2840delT (p.Leu947Argfs) deletion Pathogenic rs587778791 GRCh37 Chromosome 2, 241696754: 241696754
30 KIF1A NM_001244008.1(KIF1A): c.2840delT (p.Leu947Argfs) deletion Pathogenic rs587778791 GRCh38 Chromosome 2, 240757337: 240757337
31 KIF1A NM_001244008.1(KIF1A): c.5271dupC (p.Ser1758Glnfs) duplication Pathogenic rs587778798 GRCh37 Chromosome 2, 241657529: 241657529
32 KIF1A NM_001244008.1(KIF1A): c.5271dupC (p.Ser1758Glnfs) duplication Pathogenic rs587778798 GRCh38 Chromosome 2, 240718112: 240718112
33 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh38 Chromosome 2, 166305834: 166305834
34 SCN9A NM_002977.3(SCN9A): c.554G> A (p.Arg185His) single nucleotide variant Conflicting interpretations of pathogenicity rs73969684 GRCh37 Chromosome 2, 167162344: 167162344
35 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh38 Chromosome 2, 166280452: 166280452
36 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 GRCh37 Chromosome 2, 167136962: 167136962
37 SCN9A NM_002977.3(SCN9A): c.3370C> T (p.Pro1124Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs184563685 GRCh37 Chromosome 2, 167108344: 167108344
38 SCN9A NM_002977.3(SCN9A): c.3370C> T (p.Pro1124Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs184563685 GRCh38 Chromosome 2, 166251834: 166251834
39 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh37 Chromosome 2, 167138321: 167138321
40 SCN9A NM_002977.3(SCN9A): c.1942-3dupT duplication Benign rs35888674 GRCh38 Chromosome 2, 166281811: 166281811
41 SCN9A NM_002977.3(SCN9A): c.1398C> T (p.Ser466=) single nucleotide variant Benign/Likely benign rs201531206 GRCh38 Chromosome 2, 166286540: 166286540
42 SCN9A NM_002977.3(SCN9A): c.1398C> T (p.Ser466=) single nucleotide variant Benign/Likely benign rs201531206 GRCh37 Chromosome 2, 167143050: 167143050
43 SCN9A NM_002977.3(SCN9A): c.1555G> A (p.Glu519Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187453572 GRCh37 Chromosome 2, 167142893: 167142893
44 SCN9A NM_002977.3(SCN9A): c.1555G> A (p.Glu519Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187453572 GRCh38 Chromosome 2, 166286383: 166286383
45 SCN9A NM_002977.3(SCN9A): c.1326G> A (p.Ala442=) single nucleotide variant Conflicting interpretations of pathogenicity rs200065104 GRCh37 Chromosome 2, 167143122: 167143122
46 SCN9A NM_002977.3(SCN9A): c.1326G> A (p.Ala442=) single nucleotide variant Conflicting interpretations of pathogenicity rs200065104 GRCh38 Chromosome 2, 166286612: 166286612
47 SCN9A NM_002977.3(SCN9A): c.1942-3delT deletion Benign/Likely benign rs755703742 GRCh37 Chromosome 2, 167138321: 167138321
48 SCN9A NM_002977.3(SCN9A): c.1942-3delT deletion Benign/Likely benign rs755703742 GRCh38 Chromosome 2, 166281811: 166281811
49 SCN9A NM_002977.3(SCN9A): c.2359A> G (p.Met787Val) single nucleotide variant Benign/Likely benign rs149707354 GRCh37 Chromosome 2, 167134775: 167134775
50 SCN9A NM_002977.3(SCN9A): c.2359A> G (p.Met787Val) single nucleotide variant Benign/Likely benign rs149707354 GRCh38 Chromosome 2, 166278265: 166278265

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Iia

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

Pathways for Neuropathy, Hereditary Sensory and Autonomic, Type Iia

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

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

# Name GO ID Score Top Affiliating Genes
1 post-embryonic development GO:0009791 8.96 APOB SCN9A
2 sensory perception of pain GO:0019233 8.62 RETREG1 SCN9A

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Iia

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