HSAN2A
MCID: NRP053
MIFTS: 55

Neuropathy, Hereditary Sensory and Autonomic, Type Iia (HSAN2A)

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 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
Hereditary Sensory and Autonomic Neuropathy Type 2 12 53 25 59 15
Hsan2 12 24 53 25 59
Hereditary Sensory and Autonomic Neuropathy Type Iia 12 75 29 6
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
Hereditary Sensory and Autonomic Neuropathy Type 2a 12 15
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
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
Charcot-Marie-Tooth Disease 44
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 neuropathy, hereditary sensory and autonomic, type iib and peripheral nervous system disease. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Iia is WNK1 (WNK Lysine Deficient Protein Kinase 1), and among its related pathways/superpathways is Diuretics Pathway, Pharmacodynamics. Affiliated tissues include brain, heart and testes, and related phenotypes are abnormality of epiphysis morphology and hyperhidrosis

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.

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.

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.

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 top 50) (show all 278)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory and autonomic, type iib 31.8 NAA50 RETREG1
2 peripheral nervous system disease 30.9 ELP1 NAA50 SCN9A
3 hereditary sensory neuropathy 30.8 WNK1 RETREG1 KIF1A ELP1
4 neuropathy 30.5 SCN9A RETREG1 KIF1A ELP1 WNK1
5 autonomic neuropathy 30.3 WNK1 SCN9A RETREG1 KIF1A ELP1
6 charcot-marie-tooth disease, axonal, type 2e 13.2
7 charcot-marie-tooth disease 13.2
8 charcot-marie-tooth disease and deafness 13.1
9 charcot-marie-tooth disease, demyelinating, type 1b 13.1
10 charcot-marie-tooth disease, type 4b1 13.1
11 charcot-marie-tooth disease, axonal, type 2k 13.1
12 charcot-marie-tooth disease, demyelinating, type 1a 13.1
13 charcot-marie-tooth disease, type 4h 13.1
14 charcot-marie-tooth disease, type 4a 13.1
15 charcot-marie-tooth disease, type 4b2 13.1
16 charcot-marie-tooth disease, axonal, type 2d 13.1
17 charcot-marie-tooth disease, axonal, type 2j 13.1
18 charcot-marie-tooth disease, axonal, type 2b 13.1
19 charcot-marie-tooth disease, type 4c 13.1
20 charcot-marie-tooth disease, type 4d 13.1
21 charcot-marie-tooth disease, type 4j 13.1
22 charcot-marie-tooth disease, axonal, type 2p 13.1
23 charcot-marie-tooth disease, demyelinating, type 1c 13.1
24 charcot-marie-tooth disease, axonal, type 2l 13.1
25 charcot-marie-tooth disease, demyelinating, type 1d 13.1
26 charcot-marie-tooth disease, demyelinating, type 4f 13.1
27 charcot-marie-tooth disease, axonal, type 2n 13.1
28 charcot-marie-tooth disease, x-linked dominant, 1 13.1
29 charcot-marie-tooth disease, axonal, type 2f 13.0
30 charcot-marie-tooth disease, type 4b3 13.0
31 charcot-marie-tooth disease, axonal, type 2b1 13.0
32 charcot-marie-tooth disease, axonal, type 2b2 13.0
33 charcot-marie-tooth disease, x-linked dominant, 6 13.0
34 charcot-marie-tooth disease, axonal, type 2a1 13.0
35 charcot-marie-tooth disease, dominant intermediate b 13.0
36 charcot-marie-tooth disease, type 4k 13.0
37 charcot-marie-tooth disease, demyelinating, type 1f 13.0
38 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 13.0
39 charcot-marie-tooth disease, axonal, type 2i 13.0
40 charcot-marie-tooth disease, dominant intermediate e 13.0
41 charcot-marie-tooth disease, axonal, type 2r 13.0
42 charcot-marie-tooth disease, axonal, type 2t 13.0
43 charcot-marie-tooth disease, x-linked recessive, 5 13.0
44 charcot-marie-tooth disease, axonal, type 2o 13.0
45 charcot-marie-tooth disease, axonal, type 2q 13.0
46 charcot-marie-tooth disease, recessive intermediate a 13.0
47 charcot-marie-tooth disease, axonal, type 2u 13.0
48 charcot-marie-tooth disease, recessive intermediate b 12.9
49 charcot-marie-tooth disease, axonal, type 2w 12.9
50 charcot-marie-tooth disease, axonal, type 2v 12.9

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:
painless fractures due to injury
neurogenic joint degeneration

Skeletal Feet:
acroosteolysis
acral ulceration leading to autoamputation of digits

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 Hands:
acroosteolysis
acral ulceration leading to autoamputation of digits

Head And Neck Eyes:
impaired corneal reflex

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 36)
# 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 metabolism/homeostasis 32 HP:0001939
18 peripheral neuropathy 32 HP:0009830
19 decreased nerve conduction velocity 32 HP:0000762
20 areflexia 32 HP:0001284
21 hyporeflexia 32 HP:0001265
22 osteolysis 59 Very frequent (99-80%)
23 generalized hypotonia 32 HP:0001290
24 anhidrosis 32 HP:0000970
25 paronychia 32 HP:0001818
26 acroosteolysis (feet) 59 Very frequent (99-80%)
27 autoamputation of digits 32 HP:0007460
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 corneal reflex 32 HP:0008000
31 decreased taste sensation 32 HP:0000224
32 episodic hyperhidrosis 32 HP:0001069
33 decreased sensory nerve conduction velocity 32 HP:0003448
34 painless fractures due to injury 32 HP:0002661
35 foot acroosteolysis 32 hallmark (90%) HP:0001842
36 acral ulceration 32 HP:0006121

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

26 (show all 32)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.98 SLC12A5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.98 SACS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.98 PPFIA1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.98 ELP1 PPFIA3 SLC12A5
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.98 ELP1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.98 ELP1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.98 SACS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.98 PPFIA1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.98 SLC12A5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.98 SACS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.98 SACS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.98 ELP1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.98 ELP1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.98 PPFIA1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.98 ELP1 SLC12A5
16 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.98 SLC12A5
17 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.98 SACS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.98 SLC12A5
19 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.98 SACS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.98 SLC12A5
21 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.98 PPFIA3
22 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.98 PPFIA3
23 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.98 SLC12A5
24 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.98 SACS
25 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.98 SACS
26 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.98 ELP1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.98 SACS
28 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.98 PPFIA3
29 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.98 PPFIA1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.98 ELP1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.98 ELP1 PPFIA1 SACS
32 Increased cell viability after pRB stimulation GR00230-A-1 9.13 OXSR1 STK24 STK39

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.1 ELP1 OXSR1 SCN9A STK24 STK39 WNK1

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

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

Cochrane evidence based reviews: charcot-marie-tooth disease

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
Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II. ( 16534117 )
2006
5
A case of hereditary sensory and autonomic neuropathy type II with plantar ulceration. ( 16836519 )
2006
6
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the study of Canadian genetic isolates. ( 15060842 )
2004
7
Hereditary sensory and autonomic neuropathy type II. ( 20952894 )
1995
8
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 1660)
# 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 SCN9A NM_002977.3(SCN9A): c.3895G> T (p.Val1299Phe) single nucleotide variant Pathogenic rs121908913 GRCh37 Chromosome 2, 167085479: 167085479
22 SCN9A NM_002977.3(SCN9A): c.3895G> T (p.Val1299Phe) single nucleotide variant Pathogenic rs121908913 GRCh38 Chromosome 2, 166228969: 166228969
23 SCN9A NM_002977.3(SCN9A): c.1921A> T (p.Asn641Tyr) single nucleotide variant Uncertain significance rs121908918 GRCh37 Chromosome 2, 167141016: 167141016
24 SCN9A NM_002977.3(SCN9A): c.1921A> T (p.Asn641Tyr) single nucleotide variant Uncertain significance rs121908918 GRCh38 Chromosome 2, 166284506: 166284506
25 SCN9A NM_002977.3(SCN9A): c.1964A> G (p.Lys655Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908919 GRCh37 Chromosome 2, 167138296: 167138296
26 SCN9A NM_002977.3(SCN9A): c.1964A> G (p.Lys655Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908919 GRCh38 Chromosome 2, 166281786: 166281786
27 SCN9A NM_002977.3(SCN9A): c.184A> G (p.Ile62Val) single nucleotide variant Uncertain significance rs121908920 GRCh37 Chromosome 2, 167168083: 167168083
28 SCN9A NM_002977.3(SCN9A): c.184A> G (p.Ile62Val) single nucleotide variant Uncertain significance rs121908920 GRCh38 Chromosome 2, 166311573: 166311573
29 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh37 Chromosome 2, 167168238: 167168238
30 SCN9A NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg) single nucleotide variant Likely benign rs267607030 GRCh38 Chromosome 2, 166311728: 166311728
31 RETREG1 NM_001034850.2(RETREG1): c.1135C> G (p.Gln379Glu) single nucleotide variant Benign/Likely benign rs34432513 GRCh37 Chromosome 5, 16475209: 16475209
32 RETREG1 NM_001034850.2(RETREG1): c.1135C> G (p.Gln379Glu) single nucleotide variant Benign/Likely benign rs34432513 GRCh38 Chromosome 5, 16475100: 16475100
33 RETREG1 NM_001034850.2(RETREG1): c.1145G> C (p.Ser382Thr) single nucleotide variant Benign/Likely benign rs61733811 GRCh37 Chromosome 5, 16475199: 16475199
34 RETREG1 NM_001034850.2(RETREG1): c.1145G> C (p.Ser382Thr) single nucleotide variant Benign/Likely benign rs61733811 GRCh38 Chromosome 5, 16475090: 16475090
35 RETREG1 NM_001034850.2(RETREG1): c.18_19delTC (p.Pro7Glyfs) deletion Pathogenic rs137852736 GRCh37 Chromosome 5, 16617062: 16617063
36 RETREG1 NM_001034850.2(RETREG1): c.18_19delTC (p.Pro7Glyfs) deletion Pathogenic rs137852736 GRCh38 Chromosome 5, 16616953: 16616954
37 RETREG1 NM_001034850.2(RETREG1): c.873+2T> C single nucleotide variant Pathogenic rs137852738 GRCh37 Chromosome 5, 16478141: 16478141
38 RETREG1 NM_001034850.2(RETREG1): c.873+2T> C single nucleotide variant Pathogenic rs137852738 GRCh38 Chromosome 5, 16478032: 16478032
39 WNK1 NM_001184985.1(WNK1): c.2697delA (p.Glu899Aspfs) deletion Pathogenic rs137852734 GRCh37 Chromosome 12, 977589: 977589
40 WNK1 NM_001184985.1(WNK1): c.2697delA (p.Glu899Aspfs) deletion Pathogenic rs137852734 GRCh38 Chromosome 12, 868423: 868423
41 WNK1 NM_001184985.1(WNK1): c.3021dupA (p.Ser1008Ilefs) duplication Pathogenic rs137852735 GRCh37 Chromosome 12, 977913: 977913
42 WNK1 NM_001184985.1(WNK1): c.3021dupA (p.Ser1008Ilefs) duplication Pathogenic rs137852735 GRCh38 Chromosome 12, 868747: 868747
43 SCN9A NM_002977.3(SCN9A): c.1828C> A (p.Pro610Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs41268673 GRCh37 Chromosome 2, 167141109: 167141109
44 SCN9A NM_002977.3(SCN9A): c.1828C> A (p.Pro610Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs41268673 GRCh38 Chromosome 2, 166284599: 166284599
45 SCN9A NM_002977.3(SCN9A): c.3448C> T (p.Arg1150Trp) single nucleotide variant Benign rs6746030 GRCh37 Chromosome 2, 167099158: 167099158
46 SCN9A NM_002977.3(SCN9A): c.3448C> T (p.Arg1150Trp) single nucleotide variant Benign rs6746030 GRCh38 Chromosome 2, 166242648: 166242648
47 SCN9A NM_002977.3(SCN9A): c.601T> G (p.Leu201Val) single nucleotide variant Uncertain significance rs80356465 GRCh37 Chromosome 2, 167160835: 167160835
48 SCN9A NM_002977.3(SCN9A): c.601T> G (p.Leu201Val) single nucleotide variant Uncertain significance rs80356465 GRCh38 Chromosome 2, 166304325: 166304325
49 SCN9A NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200945460 GRCh37 Chromosome 2, 167137018: 167137018
50 SCN9A NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200945460 GRCh38 Chromosome 2, 166280508: 166280508

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

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

# Super pathways Score Top Affiliating Genes
1 10.26 OXSR1 STK39 WNK1

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

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.93 APOB ELP1 KIF1A NAA50 OXSR1 PPFIA1
2 cytosol GO:0005829 9.4 AGFG1 APOB ELP1 GOLPH3 KIF1A NAA50
3 presynaptic active zone GO:0048786 9.26 PPFIA1 PPFIA3
4 axon GO:0030424 9.26 KIF1A SACS SCN9A SETX

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.97 ELP1 OXSR1 STK24 STK39 WNK1
2 protein autophosphorylation GO:0046777 9.71 OXSR1 STK24 STK39 WNK1
3 peptidyl-threonine phosphorylation GO:0018107 9.69 OXSR1 STK39 WNK1
4 signal transduction by protein phosphorylation GO:0023014 9.65 OXSR1 STK24 STK39
5 stress-activated protein kinase signaling cascade GO:0031098 9.61 OXSR1 STK24 STK39
6 negative regulation of potassium ion transmembrane transport GO:1901380 9.56 OXSR1 STK39
7 ion homeostasis GO:0050801 9.55 STK39 WNK1
8 negative regulation of potassium ion transmembrane transporter activity GO:1901017 9.54 OXSR1 STK39
9 positive regulation of ion transmembrane transporter activity GO:0032414 9.52 STK39 WNK1
10 cellular hypotonic response GO:0071476 9.49 OXSR1 STK39
11 negative regulation of pancreatic juice secretion GO:0090188 9.46 STK39 WNK1
12 activation of protein kinase activity GO:0032147 9.46 OXSR1 STK24 STK39 WNK1
13 chemokine (C-C motif) ligand 21 signaling pathway GO:0038116 9.37 OXSR1 WNK1
14 chemokine (C-X-C motif) ligand 12 signaling pathway GO:0038146 9.32 OXSR1 STK39
15 signal transduction by trans-phosphorylation GO:0023016 9.26 STK39 WNK1
16 positive regulation of T cell chemotaxis GO:0010820 9.13 OXSR1 STK39 WNK1
17 cellular response to chemokine GO:1990869 8.8 OXSR1 STK39 WNK1

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.43 KIF1A OXSR1 SETX STK24 STK39 WNK1
2 protein serine/threonine kinase activity GO:0004674 8.92 OXSR1 STK24 STK39 WNK1

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Iia

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
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55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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