HSAN2A
MCID: NRP053
MIFTS: 52

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 58 74
Hereditary Sensory and Autonomic Neuropathy Type Ii 12 25 26 60 30 6
Hereditary Sensory and Autonomic Neuropathy Type 2 12 54 26 60 15
Hsan2 12 25 54 26 60
Hereditary Sensory and Autonomic Neuropathy Type Iia 12 76 30 6
Morvan Disease 58 54 26 76
Hsan2a 58 12 26 76
Neurogenic Acroosteolysis 54 60 76
Neuropathy, Hereditary Sensory and Autonomic, Type Ii 58 13
Hereditary Sensory and Autonomic Neuropathy Type 2a 12 15
Neuropathy, Progressive Sensory, of Children 58 54
Neuropathy, Congenital Sensory 58 54
Congenital Sensory Neuropathy 26 76
Morvan Syndrome 60 17
Hsan Type Ii 26 56
Hsan Iia 58 76
Hsn Iia 58 76
Hsanii 25 26
Hsn2a 58 76
Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome 60
Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive 58
Hereditary Sensory Radicular Neuropathy Autosomal Recessive 76
Hereditary Sensory Radicular Neuropathy, Recessive Form 54
Neuropathy, Sensory and Autonomic, Hereditary, Type Iia 41
Neuropathy, Hereditary Sensory and Autonomic, Type Iib 74
Autosomal Recessive Sensory Radicular Neuropathy 60
Neuropathy, Hereditary Sensory and Autonomic, 2a 76
Neuropathy, Hereditary Sensory, Type Iia; Hsn2a 58
Hereditary Motor and Sensory-Neuropathy Type Ii 74
Hereditary Sensory Autonomic Neuropathy, Type 2 74
Hereditary Sensory Autonomic Neuropathy Type 2 25
Progressive Sensory Neuropathy of Children 76
Neuropathy, Hereditary Sensory, Type Iia 58
Hereditary Sensory Neuropathy Type Iia 76
Hereditary Sensory Neuropathy Type 2 54
Sensory Neuropathy, Hereditary 74
Neuropathy Congenital Sensory 56
Acroosteolysis, Giaccai Type 58
Charcot-Marie-Tooth Disease 45
Giaccai Type Acroosteolysis 54
Acroosteolysis Giaccai Type 76
Acroosteolysis, Neurogenic 58
Morvan's Fibrillary Chorea 60
Morvan's Disease 74
Hsn Type Ii 26
Hsan2b 26
Hsan2c 26
Hsan2d 26

Characteristics:

Orphanet epidemiological data:

60
hereditary sensory and autonomic neuropathy type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
neuropathy, hereditary sensory and autonomic, type iia:
Onset and clinical course infantile onset slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Iia

NIH Rare Diseases : 54 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 charcot-marie-tooth disease, axonal, type 2k and neuropathy, hereditary sensory and autonomic, type iib. 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. The drug 4-des-dimethylaminotetracycline has been mentioned in the context of this disorder. Affiliated tissues include bone, brain and heart, 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 : 26 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 : 76 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 323)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2k 34.7 KIF1A NAA50
2 neuropathy, hereditary sensory and autonomic, type iib 32.0 NAA50 RETREG1
3 peripheral nervous system disease 30.9 ELP1 NAA50 SCN9A
4 hereditary sensory neuropathy 30.8 ELP1 KIF1A RETREG1 WNK1
5 autonomic neuropathy 30.3 ELP1 KIF1A RETREG1 SCN9A WNK1
6 hereditary spastic paraplegia 30.2 KIF1A SACS SETX
7 neuropathy 30.1 ELP1 KIF1A RETREG1 SCN9A WNK1
8 charcot-marie-tooth disease, axonal, type 2e 13.3
9 charcot-marie-tooth disease 13.2
10 charcot-marie-tooth disease, demyelinating, type 1a 13.2
11 charcot-marie-tooth disease and deafness 13.2
12 charcot-marie-tooth disease, demyelinating, type 1b 13.2
13 charcot-marie-tooth disease, type 4b1 13.2
14 charcot-marie-tooth disease, type 4a 13.2
15 charcot-marie-tooth disease, axonal, type 2d 13.1
16 charcot-marie-tooth disease, type 4h 13.1
17 charcot-marie-tooth disease, type 4b2 13.1
18 charcot-marie-tooth disease, dominant intermediate b 13.1
19 charcot-marie-tooth disease, axonal, type 2j 13.1
20 charcot-marie-tooth disease, axonal, type 2a1 13.1
21 charcot-marie-tooth disease, axonal, type 2b 13.1
22 charcot-marie-tooth disease, type 4d 13.1
23 charcot-marie-tooth disease, axonal, type 2p 13.1
24 charcot-marie-tooth disease, type 4c 13.1
25 charcot-marie-tooth disease, type 4j 13.1
26 charcot-marie-tooth disease, demyelinating, type 1c 13.1
27 charcot-marie-tooth disease, type 4k 13.1
28 charcot-marie-tooth disease, demyelinating, type 1f 13.1
29 charcot-marie-tooth disease, axonal, type 2l 13.1
30 charcot-marie-tooth disease, demyelinating, type 1d 13.1
31 charcot-marie-tooth disease, axonal, type 2t 13.1
32 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 13.1
33 charcot-marie-tooth disease, demyelinating, type 4f 13.1
34 charcot-marie-tooth disease, axonal, type 2i 13.1
35 charcot-marie-tooth disease, dominant intermediate e 13.1
36 charcot-marie-tooth disease, axonal, type 2n 13.1
37 charcot-marie-tooth disease, x-linked dominant, 1 13.1
38 charcot-marie-tooth disease, axonal, type 2o 13.1
39 charcot-marie-tooth disease, axonal, type 2q 13.1
40 charcot-marie-tooth disease, recessive intermediate a 13.1
41 charcot-marie-tooth disease, axonal, type 2f 13.1
42 charcot-marie-tooth disease, axonal, type 2z 13.1
43 charcot-marie-tooth disease, axonal, type 2x 13.1
44 charcot-marie-tooth disease, x-linked dominant, 6 13.1
45 charcot-marie-tooth disease, axonal, type 2b1 13.1
46 charcot-marie-tooth disease, type 4b3 13.1
47 charcot-marie-tooth disease, dominant intermediate f 13.1
48 charcot-marie-tooth disease, recessive intermediate d 13.1
49 charcot-marie-tooth disease, axonal, type 2b2 13.1
50 charcot-marie-tooth disease, recessive intermediate c 13.1

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

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

60 33 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005930
2 hyperhidrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000975
3 hyperlordosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0003307
4 abnormal cortical bone morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0003103
5 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202
6 wormian bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0002645
7 abnormality of the hip bone 60 33 hallmark (90%) Very frequent (99-80%) HP:0003272
8 reduced bone mineral density 60 33 hallmark (90%) Very frequent (99-80%) HP:0004349
9 abnormality of the ankles 60 33 hallmark (90%) Very frequent (99-80%) HP:0003028
10 tapered finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0001182
11 dystrophic toenail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001810
12 dystrophic fingernails 60 33 hallmark (90%) Very frequent (99-80%) HP:0008391
13 abnormality of the knee 60 33 hallmark (90%) Very frequent (99-80%) HP:0002815
14 foot acroosteolysis 33 hallmark (90%) HP:0001842
15 muscular hypotonia 33 HP:0001252
16 gastroesophageal reflux 33 HP:0002020
17 feeding difficulties in infancy 33 HP:0008872
18 abnormality of metabolism/homeostasis 33 HP:0001939
19 peripheral neuropathy 33 HP:0009830
20 decreased nerve conduction velocity 33 HP:0000762
21 areflexia 33 HP:0001284
22 hyporeflexia 33 HP:0001265
23 osteolysis 60 Very frequent (99-80%)
24 generalized hypotonia 33 HP:0001290
25 anhidrosis 33 HP:0000970
26 episodic hyperhidrosis 33 HP:0001069
27 paronychia 33 HP:0001818
28 acroosteolysis (feet) 60 Very frequent (99-80%)
29 autoamputation of digits 33 HP:0007460
30 decreased number of peripheral myelinated nerve fibers 33 HP:0003380
31 osteolytic defects of the phalanges of the hand 33 HP:0009771
32 decreased corneal reflex 33 HP:0008000
33 decreased taste sensation 33 HP:0000224
34 decreased sensory nerve conduction velocity 33 HP:0003448
35 painless fractures due to injury 33 HP:0002661
36 acral ulceration 33 HP:0006121

Symptoms via clinical synopsis from OMIM:

58
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

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

27 (show all 31)
# 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

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

Drugs for Neuropathy, Hereditary Sensory and Autonomic, Type Iia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 4-des-dimethylaminotetracycline

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study Recruiting NCT03550300

Search 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 30 KIF1A RETREG1 SCN9A WNK1
2 Hereditary Sensory and Autonomic Neuropathy Type Ii 30

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

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

42
Bone, Brain, Heart, Testes, Tongue, Spinal Cord, Skeletal Muscle

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Iia

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

(show all 12)
# 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
Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. ( 18521183 )
2008
5
Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II. ( 16534117 )
2006
6
New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2. ( 16636245 )
2006
7
A case of hereditary sensory and autonomic neuropathy type II with plantar ulceration. ( 16836519 )
2006
8
Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2. ( 16946995 )
2006
9
Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians. ( 15911806 )
2005
10
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. ( 15060842 )
2004
11
A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family. ( 15455397 )
2004
12
Hereditary sensory and autonomic neuropathy type II. ( 20952894 )
1995

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 1690)
# 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.2999del (p.Arg1000Asnfs) deletion Pathogenic rs387906331 GRCh37 Chromosome 12, 977636: 977636
16 WNK1 NM_213655.4(WNK1): c.2999del (p.Arg1000Asnfs) deletion Pathogenic rs387906331 GRCh38 Chromosome 12, 868470: 868470
17 WNK1 NM_018979.3(WNK1): c.1591_1592del (p.Asp531Cysfs) deletion Pathogenic rs387906332 GRCh37 Chromosome 12, 968601: 968602
18 WNK1 NM_018979.3(WNK1): c.1591_1592del (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 10.09 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 cytosol GO:0005829 9.36 AGFG1 APOB ELP1 GOLPH3 KIF1A NAA50
2 axon GO:0030424 9.26 KIF1A SACS SCN9A SETX
3 presynaptic active zone GO:0048786 9.16 PPFIA1 PPFIA3
4 cytoplasm GO:0005737 10 APOB ELP1 KIF1A NAA50 PPFIA1 PPFIA3

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 protein autophosphorylation GO:0046777 9.61 STK24 STK39 WNK1
2 activation of protein kinase activity GO:0032147 9.5 STK24 STK39 WNK1
3 positive regulation of T cell chemotaxis GO:0010820 9.4 STK39 WNK1
4 cellular response to chemokine GO:1990869 9.37 STK39 WNK1
5 ion homeostasis GO:0050801 9.26 STK39 WNK1
6 positive regulation of ion transmembrane transporter activity GO:0032414 9.16 STK39 WNK1
7 negative regulation of pancreatic juice secretion GO:0090188 8.96 STK39 WNK1
8 signal transduction by trans-phosphorylation GO:0023016 8.62 STK39 WNK1

Sources for Neuropathy, Hereditary Sensory and Autonomic, Type Iia

3 CDC
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70 SNOMED-CT via HPO
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