MCID: INS023
MIFTS: 40

Insensitivity to Pain, Congenital, with Anhidrosis

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Insensitivity to Pain, Congenital, with Anhidrosis

MalaCards integrated aliases for Insensitivity to Pain, Congenital, with Anhidrosis:

Name: Insensitivity to Pain, Congenital, with Anhidrosis 57 12 53 13
Congenital Insensitivity to Pain with Anhidrosis 76 24 53 25 75
Hsan Iv 57 24 53 75 55
Hsan4 57 25 59 75
Cipa 57 53 25 75
Hereditary Insensitivity to Pain with Anhidrosis 25 29 6
Neuropathy, Congenital Sensory, with Anhidrosis 57 53 75
Familial Dysautonomia, Type Ii 57 53 75
Hereditary Sensory and Autonomic Neuropathy Type Iv 25 59
Hereditary Sensory and Autonomic Neuropathy Iv 57 75
Hereditary Sensory and Autonomic Neuropathy 4 76 53
Hereditary Sensory Neuropathy Type Iv 12 53
Hsan Type Iv 25 73
Hereditary Sensory and Autonomic Neuropathy Iv; Hsan4 57
Congenital Insensitivity to Pain-Anhidrosis Syndrome 59
Hereditary Sensory and Autonomic Neuropathy, Type 4 25
Hereditary Sensory and Autonomic Neuropathy Type 4 59
Hereditary Sensoryautonomic Neuropathy Type Iv 24
Hereditary Sensory Neuropathy Type 4 12
Familial Dysautonomia, Type 2 53
Cip-Anhidrosis Syndrome 59
Hsan 4 53
Hsnan4 53

Characteristics:

Orphanet epidemiological data:

59
hereditary sensory and autonomic neuropathy type 4
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
accidental injury to the self (mouth, digits) has been referred to by some as 'self-mutilation'


HPO:

32
insensitivity to pain, congenital, with anhidrosis:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Insensitivity to Pain, Congenital, with Anhidrosis

NIH Rare Diseases : 53 Congenital insensitivity to pain with anhidrosis (CIPA) also known as hereditary sensory and autonomic neuropathy type IV, is an inherited disease where there is an inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). The signs and symptoms of CIPA usually appear at birth or during infancy. The inability to feel pain and temperature often leads to repeated, severe injuries and unintentional self-injury is common. People with CIPA may also heal slowly from skin and bone injuries, which can lead to chronic bone infections (osteomyelitis) or a condition called Charcot joints. Absent sweating can cause recurrent, high fevers (hyperpyrexia) and seizures brought on by high temperature (febrile seizures). Other features may include dental caries, difficulty controlling urine and defecating (urine and fecal incontinence), behavioral or emotional problems and intellectual disability. CIPA is caused by changes (mutations) in the NTRK1 gene. Inheritance is autosomal recessive. There is still no cure for CIPA. Treatment is aimed at controlling body temperature, preventing self-injury, and treating orthopedic problems, as soon as possible. It is very important to control the body temperature during surgery.

MalaCards based summary : Insensitivity to Pain, Congenital, with Anhidrosis, also known as congenital insensitivity to pain with anhidrosis, is related to hereditary sensory neuropathy and neuropathy, hereditary sensory and autonomic, type v. An important gene associated with Insensitivity to Pain, Congenital, with Anhidrosis is NTRK1 (Neurotrophic Receptor Tyrosine Kinase 1). Affiliated tissues include skin, bone and tongue, and related phenotypes are irritability and thickened skin

UniProtKB/Swiss-Prot : 75 Congenital insensitivity to pain with anhidrosis: Characterized by a congenital insensitivity to pain, anhidrosis (absence of sweating), absence of reaction to noxious stimuli, self- mutilating behavior, and mental retardation. This rare autosomal recessive disorder is also known as congenital sensory neuropathy with anhidrosis or hereditary sensory and autonomic neuropathy type IV or familial dysautonomia type II.

Genetics Home Reference : 25 Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually at birth or during infancy, but with careful medical attention, affected individuals can live into adulthood.

Disease Ontology : 12 A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has material basis in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23.

Wikipedia : 76 Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic... more...

Description from OMIM: 256800
GeneReviews: NBK1769

Related Diseases for Insensitivity to Pain, Congenital, with Anhidrosis

Diseases related to Insensitivity to Pain, Congenital, with Anhidrosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary sensory neuropathy 11.3
2 neuropathy, hereditary sensory and autonomic, type v 10.5
3 anhidrosis 10.5
4 sensory peripheral neuropathy 10.2
5 pyruvate kinase deficiency of red cells 10.0
6 shwachman-diamond syndrome 1 9.8
7 autonomic neuropathy 9.8
8 neuropathy 9.8

Graphical network of the top 20 diseases related to Insensitivity to Pain, Congenital, with Anhidrosis:



Diseases related to Insensitivity to Pain, Congenital, with Anhidrosis

Symptoms & Phenotypes for Insensitivity to Pain, Congenital, with Anhidrosis

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteomyelitis
neuropathic arthropathy

Cardiovascular Vascular:
postural hypotension with compensatory tachycardia

Skin Nails Hair Hair:
hypotrichosis of the scalp

Neurologic Peripheral Nervous System:
autonomic dysfunction
pain insensitivity, diffuse (including to visceral pain)
temperature insensitivity, diffuse
markedly decreased small unmyelinated nerve fibers
decreased small myelinated nerve fibers
more
Head And Neck Mouth:
accidental injury and ulceration of the lips and tongue due to decreased sensation

Skeletal Feet:
acral ulceration and osteomyelitis leading to autoamputation of the digits

Metabolic Features:
fever, episodic, severe
fever is often the presenting symptom

Laboratory Abnormalities:
absent axonal flare response to intradermal histamine injection

Skin Nails Hair Skin:
anhidrosis
anhidrosis of the trunk and limbs 100% of the time
thick, calloused skin
lichenification of palms
skin ulcers

Head And Neck Eyes:
corneal ulceration
corneal scarring
corneal opacities
absent corneal sensation
very poor corneal healing
more
Neurologic Central Nervous System:
developmental delay
mental retardation

Skin Nails Hair Nails:
dystrophic nails

Skeletal Hands:
acral ulceration and osteomyelitis leading to autoamputation of the digits

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity in 50% of patients
emotional lability in 50% of patients
susceptibility to rage in 50% of patients

Immunology:
delayed wound healing with normal immune system
increased susceptibility to severe and frequent infections with staphylococcus aureus


Clinical features from OMIM:

256800

Human phenotypes related to Insensitivity to Pain, Congenital, with Anhidrosis:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 irritability 59 32 hallmark (90%) Very frequent (99-80%) HP:0000737
2 thickened skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0001072
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
5 osteomyelitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002754
6 impaired pain sensation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007328
7 abnormality of dental color 59 32 occasional (7.5%) Occasional (29-5%) HP:0011073
8 lack of skin elasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0100679
9 self-injurious behavior 59 32 hallmark (90%) Very frequent (99-80%) HP:0100716
10 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
11 behavioral abnormality 59 Very frequent (99-80%)
12 keratitis 32 HP:0000491
13 recurrent corneal erosions 32 HP:0000495
14 corneal scarring 32 HP:0000559
15 emotional lability 32 frequent (33%) HP:0000712
16 self-mutilation 32 HP:0000742
17 hyperactivity 32 frequent (33%) HP:0000752
18 anhidrosis 32 HP:0000970
19 acral ulceration and osteomyelitis leading to autoamputation of digits 32 HP:0001226
20 episodic fever 32 HP:0001954
21 nail dysplasia 32 HP:0002164
22 dysautonomia 32 HP:0002459
23 neuropathic arthropathy 32 HP:0002821
24 hypotrichosis of the scalp 32 HP:0004782
25 postural hypotension with compensatory tachycardia 32 HP:0005307
26 pain insensitivity 32 HP:0007021
27 decreased number of small peripheral myelinated nerve fibers 32 HP:0007249
28 opacification of the corneal stroma 32 HP:0007759
29 nail dystrophy 32 HP:0008404
30 corneal ulceration 32 HP:0012804

Drugs & Therapeutics for Insensitivity to Pain, Congenital, with Anhidrosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of Norepinephrine in Patients With Congenital Insensitivity to Pain and Anhidrosis Withdrawn NCT02624310 Phase 2 Droxidopa (L-DOPS);Placebo

Search NIH Clinical Center for Insensitivity to Pain, Congenital, with Anhidrosis

Genetic Tests for Insensitivity to Pain, Congenital, with Anhidrosis

Genetic tests related to Insensitivity to Pain, Congenital, with Anhidrosis:

# Genetic test Affiliating Genes
1 Hereditary Insensitivity to Pain with Anhidrosis 29 NTRK1

Anatomical Context for Insensitivity to Pain, Congenital, with Anhidrosis

MalaCards organs/tissues related to Insensitivity to Pain, Congenital, with Anhidrosis:

41
Skin, Bone, Tongue, Neutrophil

Publications for Insensitivity to Pain, Congenital, with Anhidrosis

Articles related to Insensitivity to Pain, Congenital, with Anhidrosis:

(show top 50) (show all 118)
# Title Authors Year
1
Hemodynamic Response to Massive Bleeding in a Patient with Congenital Insensitivity to Pain with Anhidrosis. ( 29971168 )
2018
2
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review. ( 29619836 )
2018
3
Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. ( 29770739 )
2018
4
NGF-dependent neurons and neurobiology of emotions and feelings: Lessons from congenital insensitivity to pain with anhidrosis. ( 29407522 )
2018
5
A Case of Congenital Insensitivity to Pain With Anhidrosis Comorbid With Attention Deficit Hyperactivity Disorder: Clinical Implications for Pathophysiology and Treatment. ( 29595626 )
2018
6
Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon-LefA"vre Syndrome? ( 29142767 )
2017
7
Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies. ( 28177573 )
2017
8
[Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis]. ( 28981924 )
2017
9
Anesthetic management during adenotonsillectomy for twins with congenital insensitivity to pain with anhidrosis: two case reports. ( 28838318 )
2017
10
Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis. ( 28345382 )
2017
11
Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients. ( 28192073 )
2017
12
Total Hip Arthroplasty in an Inveterate Femoral Neck Fracture in a Patient with Congenital Insensitivity to Pain with Anhidrosis. ( 29270564 )
2017
13
Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis. ( 27265460 )
2016
14
Anesthetic considerations in a parturient with congenital insensitivity to pain with anhidrosis. ( 27884666 )
2016
15
Mutations in TrkA causing congenital insensitivity to pain with anhidrosis (CIPA) induce misfolding, aggregation and mutation-dependent neurodegeneration by dysfunction of the autophagic flux. ( 27551041 )
2016
16
Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis. ( 27584961 )
2016
17
Congenital insensitivity to pain with anhidrosis in Sudanese children. ( 28096563 )
2016
18
Congenital insensitivity to pain with anhidrosis: A report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family. ( 27772781 )
2016
19
Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report. ( 25984678 )
2015
20
Norepinephrine deficiency with normal blood pressure control in congenital insensitivity to pain with anhidrosis. ( 25627679 )
2015
21
Congenital Insensitivity to Pain with Anhidrosis in Twin Sisters with Sensorineural Deafness. ( 25776000 )
2015
22
Congenital insensitivity to pain with anhidrosis. ( 26032179 )
2015
23
Anesthetic Management of Patients with Congenital Insensitivity to Pain with Anhidrosis: A Retrospective Analysis of 358 Procedures Performed Under General Anesthesia. ( 26484462 )
2015
24
Skeletal complications in congenital insensitivity to pain with anhidrosis: a case series of 14 patients and review of articles published in Japanese. ( 24953503 )
2014
25
A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis. ( 25519000 )
2014
26
Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis. ( 25316729 )
2014
27
A case of congenital insensitivity to pain with anhidrosis. ( 26078659 )
2014
28
[Congenital insensitivity to pain with anhidrosis. Clinical diagnosis, evolution and complications: case report]. ( 25192535 )
2014
29
Seeing is not always believing: congenital insensitivity to pain with anhidrosis mimicking leprosy. ( 24290131 )
2013
30
Congenital insensitivity to pain with anhidrosis presenting with palmoplantar keratoderma. ( 22957891 )
2013
31
Congenital insensitivity to pain with anhidrosis: a case report of a 33-year-old patient. ( 22422007 )
2013
32
Congenital insensitivity to pain with anhidrosis in an Iranian patient. ( 25337332 )
2013
33
Severe complications in wound healing and fracture treatment in two brothers with congenital insensitivity to pain with anhidrosis. ( 22814739 )
2013
34
360A^ fusion for Charcot spine caused by congenital insensitivity to pain with anhidrosis. ( 24157171 )
2013
35
Pathological fracture of the mandible in a paediatric patient with congenital insensitivity to pain with anhidrosis (CIPA). ( 22858419 )
2013
36
Bispectral index monitoring in a patient with combination of congenital insensitivity to pain with anhidrosis (CIPA) and Shwachman-Diamond syndrome. ( 23828451 )
2013
37
Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identified in the patient with congenital insensitivity to pain with anhidrosis. ( 23799134 )
2013
38
Morbidity characteristics of patients with congenital insensitivity to pain with anhidrosis (CIPA). ( 23744299 )
2013
39
Old fractures in two patients with congenital insensitivity to pain with anhidrosis: radiological findings. ( 23478071 )
2013
40
Congenital insensitivity to pain with anhidrosis: a case with preserved itch sensation to histamine and partial pain sensation. ( 22032467 )
2012
41
Congenital insensitivity to pain with anhidrosis. ( 23248706 )
2012
42
Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. ( 22653642 )
2012
43
Nerve growth factor and the physiology ofA pain: lessons from congenital insensitivity to pain with anhidrosis. ( 22882139 )
2012
44
Congenital Insensitivity to Pain with Anhidrosis (HSAN Type IV), Extremely Rare Syndrome that Can Be Easily Missed by Bone and Joint Surgeons: A Case Report. ( 23429452 )
2012
45
Neurotrophic keratitis and congenital insensitivity to pain with anhidrosis--a case report with 10-year follow-up. ( 20847675 )
2011
46
Osteomyelitis of the mandible in a group of 33 pediatric patients with congenital insensitivity to pain with anhidrosis. ( 21281970 )
2011
47
A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis. ( 21708027 )
2011
48
Congenital Insensitivity to Pain with Anhidrosis (CIPA): A Case Report. ( 22737448 )
2011
49
Novel neurotrophic tyrosine kinase receptor type 1 gene mutation associated with congenital insensitivity to pain with anhidrosis. ( 20647579 )
2010
50
Nerve growth factor, pain, itch and inflammation: lessons from congenital insensitivity to pain with anhidrosis. ( 20977328 )
2010

Variations for Insensitivity to Pain, Congenital, with Anhidrosis

UniProtKB/Swiss-Prot genetic disease variations for Insensitivity to Pain, Congenital, with Anhidrosis:

75 (show all 25)
# Symbol AA change Variation ID SNP ID
1 NTRK1 p.Gly577Arg VAR_004103 rs121964866
2 NTRK1 p.Leu93Pro VAR_009624
3 NTRK1 p.Leu213Pro VAR_009625 rs747711259
4 NTRK1 p.Gly522Arg VAR_009626
5 NTRK1 p.Met587Val VAR_009627 rs121964870
6 NTRK1 p.Arg649Trp VAR_009630 rs369353892
7 NTRK1 p.Arg654Cys VAR_009631 rs764992664
8 NTRK1 p.Asp674Tyr VAR_009632 rs80356677
9 NTRK1 p.Pro695Leu VAR_009633 rs121964868
10 NTRK1 p.Gly714Ser VAR_009634 rs770727871
11 NTRK1 p.Arg780Pro VAR_009635 rs35669708
12 NTRK1 p.Tyr359Cys VAR_068481 rs121964869
13 NTRK1 p.Glu492Lys VAR_068482 rs144901788
14 NTRK1 p.Gly517Glu VAR_077472 rs606231467
15 NTRK1 p.Gly522Glu VAR_077473
16 NTRK1 p.Ile572Ser VAR_077474
17 NTRK1 p.Leu657Pro VAR_077475
18 NTRK1 p.Ile699Thr VAR_077476
19 NTRK1 p.Leu717Arg VAR_077477
20 NTRK1 p.Cys763Ser VAR_077479
21 NTRK1 p.Arg771Cys VAR_077480
22 NTRK1 p.Ala110Asp VAR_079399
23 NTRK1 p.Asp596Asn VAR_079404
24 NTRK1 p.Arg649Gln VAR_079405 rs786205449
25 NTRK1 p.Leu700Pro VAR_079406

ClinVar genetic disease variations for Insensitivity to Pain, Congenital, with Anhidrosis:

6
(show top 50) (show all 242)
# Gene Variation Type Significance SNP ID Assembly Location
1 NTRK1 NTRK1, IVSDS, A-C, +3 single nucleotide variant Pathogenic
2 NTRK1 NM_001007792.1(NTRK1): c.1621G> C (p.Gly541Arg) single nucleotide variant Pathogenic rs121964866 GRCh37 Chromosome 1, 156846288: 156846288
3 NTRK1 NM_001007792.1(NTRK1): c.1621G> C (p.Gly541Arg) single nucleotide variant Pathogenic rs121964866 GRCh38 Chromosome 1, 156876496: 156876496
4 NTRK1 NM_001007792.1(NTRK1): c.2231G> C (p.Arg744Pro) single nucleotide variant Pathogenic rs35669708 GRCh37 Chromosome 1, 156851382: 156851382
5 NTRK1 NM_001007792.1(NTRK1): c.2231G> C (p.Arg744Pro) single nucleotide variant Pathogenic rs35669708 GRCh38 Chromosome 1, 156881590: 156881590
6 NTRK1 NM_002529.3(NTRK1): c.25C> T (p.Gln9Ter) single nucleotide variant Pathogenic rs80356673 GRCh37 Chromosome 1, 156830751: 156830751
7 NTRK1 NM_002529.3(NTRK1): c.25C> T (p.Gln9Ter) single nucleotide variant Pathogenic rs80356673 GRCh38 Chromosome 1, 156860959: 156860959
8 NTRK1 NTRK1, IVS4, G-C, -1 AND ARG85SER single nucleotide variant Pathogenic
9 NTRK1 NTRK1, IVS7AS, T-A, -33 single nucleotide variant Pathogenic
10 NTRK1 NTRK1, 1-BP INS, 1926T insertion Pathogenic
11 NTRK1 NM_001007792.1(NTRK1): c.1976C> T (p.Pro659Leu) single nucleotide variant Pathogenic rs121964868 GRCh37 Chromosome 1, 156849828: 156849828
12 NTRK1 NM_001007792.1(NTRK1): c.1976C> T (p.Pro659Leu) single nucleotide variant Pathogenic rs121964868 GRCh38 Chromosome 1, 156880036: 156880036
13 NTRK1 NM_001007792.1(NTRK1): c.986A> G (p.Tyr329Cys) single nucleotide variant Pathogenic rs121964869 GRCh37 Chromosome 1, 156843650: 156843650
14 NTRK1 NM_001007792.1(NTRK1): c.986A> G (p.Tyr329Cys) single nucleotide variant Pathogenic rs121964869 GRCh38 Chromosome 1, 156873858: 156873858
15 NTRK1 NM_001007792.1(NTRK1): c.1651A> G (p.Met551Val) single nucleotide variant Pathogenic rs121964870 GRCh37 Chromosome 1, 156846318: 156846318
16 NTRK1 NM_001007792.1(NTRK1): c.1651A> G (p.Met551Val) single nucleotide variant Pathogenic rs121964870 GRCh38 Chromosome 1, 156876526: 156876526
17 NTRK1 NM_002529.3(NTRK1): c.1660delC (p.Arg554Glyfs) deletion Pathogenic rs80356675 GRCh37 Chromosome 1, 156846219: 156846219
18 NTRK1 NM_002529.3(NTRK1): c.1660delC (p.Arg554Glyfs) deletion Pathogenic rs80356675 GRCh38 Chromosome 1, 156876427: 156876427
19 NTRK1 NM_002529.3(NTRK1): c.1860_1861insT (p.Pro621Serfs) insertion Pathogenic rs80356676 GRCh37 Chromosome 1, 156848968: 156848969
20 NTRK1 NM_002529.3(NTRK1): c.1860_1861insT (p.Pro621Serfs) insertion Pathogenic rs80356676 GRCh38 Chromosome 1, 156879176: 156879177
21 NTRK1 NM_002529.3(NTRK1): c.2020G> T (p.Asp674Tyr) single nucleotide variant Pathogenic rs80356677 GRCh37 Chromosome 1, 156849128: 156849128
22 NTRK1 NM_002529.3(NTRK1): c.2020G> T (p.Asp674Tyr) single nucleotide variant Pathogenic rs80356677 GRCh38 Chromosome 1, 156879336: 156879336
23 NTRK1 NM_002529.3(NTRK1): c.851-33T> A single nucleotide variant Pathogenic rs80356674 GRCh37 Chromosome 1, 156843392: 156843392
24 NTRK1 NM_002529.3(NTRK1): c.851-33T> A single nucleotide variant Pathogenic rs80356674 GRCh38 Chromosome 1, 156873600: 156873600
25 NTRK1 NM_001012331.1(NTRK1): c.207_208delTG (p.Glu70Alafs) deletion Pathogenic rs398122810 GRCh37 Chromosome 1, 156830933: 156830934
26 NTRK1 NM_001012331.1(NTRK1): c.207_208delTG (p.Glu70Alafs) deletion Pathogenic rs398122810 GRCh38 Chromosome 1, 156861141: 156861142
27 NTRK1 NG_007493.1: g.64269_65649del1381 deletion Pathogenic GRCh37 Chromosome 1, 156844810: 156846190
28 NTRK1 NG_007493.1: g.64269_65649del1381 deletion Pathogenic GRCh38 Chromosome 1, 156875018: 156876398
29 NTRK1 NM_002529.3(NTRK1): c.717+4A> T single nucleotide variant Pathogenic rs606231466 GRCh38 Chromosome 1, 156868651: 156868651
30 NTRK1 NM_002529.3(NTRK1): c.717+4A> T single nucleotide variant Pathogenic rs606231466 GRCh37 Chromosome 1, 156838443: 156838443
31 NTRK1 NM_002529.3(NTRK1): c.1550G> A (p.Gly517Glu) single nucleotide variant Pathogenic rs606231467 GRCh38 Chromosome 1, 156876128: 156876128
32 NTRK1 NM_002529.3(NTRK1): c.1550G> A (p.Gly517Glu) single nucleotide variant Pathogenic rs606231467 GRCh37 Chromosome 1, 156845920: 156845920
33 NTRK1 NM_001012331.1(NTRK1): c.53G> A (p.Gly18Glu) single nucleotide variant Benign/Likely benign rs1007211 GRCh37 Chromosome 1, 156830779: 156830779
34 NTRK1 NM_001012331.1(NTRK1): c.53G> A (p.Gly18Glu) single nucleotide variant Benign/Likely benign rs1007211 GRCh38 Chromosome 1, 156860987: 156860987
35 NTRK1 NM_001012331.1(NTRK1): c.2039G> A (p.Arg680His) single nucleotide variant Uncertain significance rs754452975 GRCh37 Chromosome 1, 156849801: 156849801
36 NTRK1 NM_001012331.1(NTRK1): c.2039G> A (p.Arg680His) single nucleotide variant Uncertain significance rs754452975 GRCh38 Chromosome 1, 156880009: 156880009
37 NTRK1 NM_001012331.1(NTRK1): c.710C> T (p.Thr237Met) single nucleotide variant Benign/Likely benign rs55909005 GRCh37 Chromosome 1, 156838432: 156838432
38 NTRK1 NM_001012331.1(NTRK1): c.710C> T (p.Thr237Met) single nucleotide variant Benign/Likely benign rs55909005 GRCh38 Chromosome 1, 156868640: 156868640
39 NTRK1 NM_001012331.1(NTRK1): c.360-2A> C single nucleotide variant Pathogenic rs797045059 GRCh37 Chromosome 1, 156836700: 156836700
40 NTRK1 NM_001012331.1(NTRK1): c.360-2A> C single nucleotide variant Pathogenic rs797045059 GRCh38 Chromosome 1, 156866908: 156866908
41 NTRK1 NM_001012331.1(NTRK1): c.1040G> C (p.Arg347Pro) single nucleotide variant Likely pathogenic rs797045060 GRCh37 Chromosome 1, 156843614: 156843614
42 NTRK1 NM_001012331.1(NTRK1): c.1040G> C (p.Arg347Pro) single nucleotide variant Likely pathogenic rs797045060 GRCh38 Chromosome 1, 156873822: 156873822
43 NTRK1 NM_001012331.1(NTRK1): c.16C> T (p.Arg6Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201472270 GRCh38 Chromosome 1, 156860950: 156860950
44 NTRK1 NM_001012331.1(NTRK1): c.16C> T (p.Arg6Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201472270 GRCh37 Chromosome 1, 156830742: 156830742
45 NTRK1 NM_001012331.1(NTRK1): c.2321G> A (p.Arg774Gln) single nucleotide variant Benign/Likely benign rs35669708 GRCh37 Chromosome 1, 156851382: 156851382
46 NTRK1 NM_001012331.1(NTRK1): c.2321G> A (p.Arg774Gln) single nucleotide variant Benign/Likely benign rs35669708 GRCh38 Chromosome 1, 156881590: 156881590
47 NTRK1 NM_001012331.1(NTRK1): c.470G> A (p.Arg157His) single nucleotide variant Uncertain significance rs141021604 GRCh37 Chromosome 1, 156837937: 156837937
48 NTRK1 NM_001012331.1(NTRK1): c.470G> A (p.Arg157His) single nucleotide variant Uncertain significance rs141021604 GRCh38 Chromosome 1, 156868145: 156868145
49 NTRK1 NM_001012331.1(NTRK1): c.505G> A (p.Gly169Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs367836863 GRCh38 Chromosome 1, 156868180: 156868180
50 NTRK1 NM_001012331.1(NTRK1): c.505G> A (p.Gly169Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs367836863 GRCh37 Chromosome 1, 156837972: 156837972

Expression for Insensitivity to Pain, Congenital, with Anhidrosis

Search GEO for disease gene expression data for Insensitivity to Pain, Congenital, with Anhidrosis.

Pathways for Insensitivity to Pain, Congenital, with Anhidrosis

GO Terms for Insensitivity to Pain, Congenital, with Anhidrosis

Sources for Insensitivity to Pain, Congenital, with Anhidrosis

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