CIPA
MCID: INS023
MIFTS: 48

Insensitivity to Pain, Congenital, with Anhidrosis (CIPA)

Categories: Bone diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 58 12 54 13
Congenital Insensitivity to Pain with Anhidrosis 77 25 54 26 76
Hsan Iv 58 25 54 76 56
Hsan4 58 26 60 76
Cipa 58 54 26 76
Hereditary Insensitivity to Pain with Anhidrosis 26 30 6
Neuropathy, Congenital Sensory, with Anhidrosis 58 54 76
Familial Dysautonomia, Type Ii 58 54 76
Hereditary Sensory and Autonomic Neuropathy Type Iv 26 60
Hereditary Sensory and Autonomic Neuropathy Iv 58 76
Hereditary Sensory and Autonomic Neuropathy 4 77 54
Hereditary Sensory Neuropathy Type Iv 12 54
Hereditary Sensory Neuropathy Type 4 12 15
Hsan Type Iv 26 74
Hereditary Sensory and Autonomic Neuropathy Iv; Hsan4 58
Congenital Insensitivity to Pain-Anhidrosis Syndrome 60
Hereditary Sensory and Autonomic Neuropathy, Type 4 26
Hereditary Sensory and Autonomic Neuropathy Type 4 60
Hereditary Sensory Autonomic Neuropathy Type Iv 25
Familial Dysautonomia, Type 2 54
Cip-Anhidrosis Syndrome 60
Hsan 4 54
Hsnan4 54

Characteristics:

Orphanet epidemiological data:

60
hereditary sensory and autonomic neuropathy type 4
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
insensitivity to pain, congenital, with anhidrosis:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Insensitivity to Pain, Congenital, with Anhidrosis

NIH Rare Diseases : 54 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 neuropathy, hereditary sensory and autonomic, type v and hereditary sensory neuropathy. An important gene associated with Insensitivity to Pain, Congenital, with Anhidrosis is NTRK1 (Neurotrophic Receptor Tyrosine Kinase 1), and among its related pathways/superpathways are Brain-Derived Neurotrophic Factor (BDNF) signaling pathway and Guidance Cues and Growth Cone Motility. Affiliated tissues include skin, bone and tongue, and related phenotypes are intellectual disability and self-injurious behavior

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.

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Congenital insensitivity to pain with anhidrosis (CIPA) is rare autosomal recessive disorder of the... more...

Description from OMIM: 256800
GeneReviews: NBK1769

Related Diseases for Insensitivity to Pain, Congenital, with Anhidrosis

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

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

60 33 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 self-injurious behavior 60 33 hallmark (90%) Very frequent (99-80%) HP:0100716
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 irritability 60 33 hallmark (90%) Very frequent (99-80%) HP:0000737
5 skin ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0200042
6 impaired pain sensation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007328
7 osteomyelitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002754
8 emotional lability 33 frequent (33%) HP:0000712
9 hyperactivity 33 frequent (33%) HP:0000752
10 lack of skin elasticity 60 33 occasional (7.5%) Occasional (29-5%) HP:0100679
11 thickened skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0001072
12 abnormality of dental color 60 33 occasional (7.5%) Occasional (29-5%) HP:0011073
13 behavioral abnormality 60 Very frequent (99-80%)
14 nail dystrophy 33 HP:0008404
15 opacification of the corneal stroma 33 HP:0007759
16 keratitis 33 HP:0000491
17 nail dysplasia 33 HP:0002164
18 anhidrosis 33 HP:0000970
19 lichenification 33 HP:0100725
20 poor wound healing 33 HP:0001058
21 autoamputation of digits 33 HP:0007460
22 self-mutilation 33 HP:0000742
23 corneal ulceration 33 HP:0012804
24 pain insensitivity 33 HP:0007021
25 postural hypotension with compensatory tachycardia 33 HP:0005307
26 decreased number of small peripheral myelinated nerve fibers 33 HP:0007249
27 hypotrichosis of the scalp 33 HP:0004782
28 corneal scarring 33 HP:0000559
29 recurrent corneal erosions 33 HP:0000495
30 recurrent fever 33 HP:0001954
31 neuropathic arthropathy 33 HP:0002821
32 acral ulceration 33 HP:0006121

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
osteomyelitis
neuropathic arthropathy

Head And Neck Eyes:
corneal ulceration
corneal scarring
corneal opacities
absent corneal sensation
very poor corneal healing
more
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

Cardiovascular Vascular:
postural hypotension with compensatory tachycardia

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

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 30 NTRK1

Anatomical Context for Insensitivity to Pain, Congenital, with Anhidrosis

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

42
Skin, Bone, Tongue, Neutrophil, Thyroid

Publications for Insensitivity to Pain, Congenital, with Anhidrosis

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

(show top 50) (show all 138)
# Title Authors Year
1
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation. ( 30677517 )
2019
2
Digital Amputation by Congenital Insensitivity to Pain with Anhidrosis. ( 30737035 )
2019
3
Heterogeneity of clinical features and mutation analysis of NTRK1 in Han Chinese patients with congenital insensitivity to pain with anhidrosis. ( 30774415 )
2019
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
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review. ( 29619836 )
2018
7
Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. ( 29770739 )
2018
8
Hemodynamic Response to Massive Bleeding in a Patient with Congenital Insensitivity to Pain with Anhidrosis. ( 29971168 )
2018
9
Congenital Loss of Permanent Teeth in a Patient With Congenital Insensitivity to Pain With Anhidrosis due to 2 Novel Mutations in the NTRK1 Gene. ( 30075136 )
2018
10
Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA). ( 30201336 )
2018
11
Postoperative redislocation of the hip in a patient with congenital insensitivity to pain with anhidrosis: A case report and review of literature. ( 30510952 )
2018
12
Anesthetic management during adenotonsillectomy for twins with congenital insensitivity to pain with anhidrosis: two case reports. ( 28838318 )
2017
13
Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon-Lefèvre Syndrome? ( 29142767 )
2017
14
Total Hip Arthroplasty in an Inveterate Femoral Neck Fracture in a Patient with Congenital Insensitivity to Pain with Anhidrosis. ( 29270564 )
2017
15
Anesthetic considerations in a parturient with congenital insensitivity to pain with anhidrosis. ( 27884666 )
2017
16
Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies. ( 28177573 )
2017
17
Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients. ( 28192073 )
2017
18
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
19
[Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis]. ( 28981924 )
2017
20
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
21
Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis. ( 27265460 )
2016
22
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
23
Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis. ( 27584961 )
2016
24
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
25
Congenital insensitivity to pain with anhidrosis in Sudanese children. ( 28096563 )
2016
26
Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis. ( 25316729 )
2015
27
A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis. ( 25519000 )
2015
28
Norepinephrine deficiency with normal blood pressure control in congenital insensitivity to pain with anhidrosis. ( 25627679 )
2015
29
Congenital Insensitivity to Pain with Anhidrosis in Twin Sisters with Sensorineural Deafness. ( 25776000 )
2015
30
Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report. ( 25984678 )
2015
31
Congenital insensitivity to pain with anhidrosis. ( 26032179 )
2015
32
Anesthetic Management of Patients with Congenital Insensitivity to Pain with Anhidrosis: A Retrospective Analysis of 358 Procedures Performed Under General Anesthesia. ( 26484462 )
2015
33
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
34
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. ( 25394175 )
2015
35
Bispectral index monitoring in a patient with combination of congenital insensitivity to pain with anhidrosis (CIPA) and Shwachman-Diamond syndrome. ( 23828451 )
2014
36
Skeletal complications in congenital insensitivity to pain with anhidrosis: a case series of 14 patients and review of articles published in Japanese. ( 24953503 )
2014
37
A case of congenital insensitivity to pain with anhidrosis. ( 26078659 )
2014
38
[Congenital insensitivity to pain with anhidrosis. Clinical diagnosis, evolution and complications: case report]. ( 25192535 )
2014
39
Innate immunity. A Spaetzle-like role for nerve growth factor β in vertebrate immunity to Staphylococcus aureus. ( 25359976 )
2014
40
Congenital insensitivity to pain with anhidrosis: a case report of a 33-year-old patient. ( 22422007 )
2013
41
Severe complications in wound healing and fracture treatment in two brothers with congenital insensitivity to pain with anhidrosis. ( 22814739 )
2013
42
Pathological fracture of the mandible in a paediatric patient with congenital insensitivity to pain with anhidrosis (CIPA). ( 22858419 )
2013
43
Congenital insensitivity to pain with anhidrosis presenting with palmoplantar keratoderma. ( 22957891 )
2013
44
Old fractures in two patients with congenital insensitivity to pain with anhidrosis: radiological findings. ( 23478071 )
2013
45
Morbidity characteristics of patients with congenital insensitivity to pain with anhidrosis (CIPA). ( 23744299 )
2013
46
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
47
360° fusion for Charcot spine caused by congenital insensitivity to pain with anhidrosis. ( 24157171 )
2013
48
Seeing is not always believing: congenital insensitivity to pain with anhidrosis mimicking leprosy. ( 24290131 )
2013
49
Congenital insensitivity to pain with anhidrosis in an Iranian patient. ( 25337332 )
2013
50
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013

Variations for Insensitivity to Pain, Congenital, with Anhidrosis

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

76 (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 rs132498337
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 319)
# Gene Variation Type Significance SNP ID Assembly Location
1 NTRK1 NM_001012331.1(NTRK1): c.2028+3A> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 156849157: 156849157
2 NTRK1 NM_001012331.1(NTRK1): c.2028+3A> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 156879365: 156879365
3 NTRK1 NM_001007792.1(NTRK1): c.1621G> C (p.Gly541Arg) single nucleotide variant Pathogenic rs121964866 GRCh37 Chromosome 1, 156846288: 156846288
4 NTRK1 NM_001007792.1(NTRK1): c.1621G> C (p.Gly541Arg) single nucleotide variant Pathogenic rs121964866 GRCh38 Chromosome 1, 156876496: 156876496
5 NTRK1 NM_001007792.1(NTRK1): c.2231G> C (p.Arg744Pro) single nucleotide variant Pathogenic rs35669708 GRCh37 Chromosome 1, 156851382: 156851382
6 NTRK1 NM_001007792.1(NTRK1): c.2231G> C (p.Arg744Pro) single nucleotide variant Pathogenic rs35669708 GRCh38 Chromosome 1, 156881590: 156881590
7 NTRK1 NM_002529.3(NTRK1): c.25C> T (p.Gln9Ter) single nucleotide variant Pathogenic rs80356673 GRCh37 Chromosome 1, 156830751: 156830751
8 NTRK1 NM_002529.3(NTRK1): c.25C> T (p.Gln9Ter) single nucleotide variant Pathogenic rs80356673 GRCh38 Chromosome 1, 156860959: 156860959
9 NTRK1 NTRK1, IVS4, G-C, -1 AND ARG85SER single nucleotide variant Pathogenic
10 NTRK1 NTRK1, IVS7AS, T-A, -33 single nucleotide variant Pathogenic
11 NTRK1 NM_001007792.1(NTRK1): c.1730G> T (p.Gly577Val) single nucleotide variant Conflicting interpretations of pathogenicity rs6339 GRCh37 Chromosome 1, 156848946: 156848946
12 NTRK1 NM_001007792.1(NTRK1): c.1730G> T (p.Gly577Val) single nucleotide variant Conflicting interpretations of pathogenicity rs6339 GRCh38 Chromosome 1, 156879154: 156879154
13 NTRK1 NTRK1, 1-BP INS, 1926T insertion Pathogenic
14 NTRK1 NM_001007792.1(NTRK1): c.1976C> T (p.Pro659Leu) single nucleotide variant Pathogenic rs121964868 GRCh37 Chromosome 1, 156849828: 156849828
15 NTRK1 NM_001007792.1(NTRK1): c.1976C> T (p.Pro659Leu) single nucleotide variant Pathogenic rs121964868 GRCh38 Chromosome 1, 156880036: 156880036
16 NTRK1 NM_001007792.1(NTRK1): c.986A> G (p.Tyr329Cys) single nucleotide variant Pathogenic rs121964869 GRCh37 Chromosome 1, 156843650: 156843650
17 NTRK1 NM_001007792.1(NTRK1): c.986A> G (p.Tyr329Cys) single nucleotide variant Pathogenic rs121964869 GRCh38 Chromosome 1, 156873858: 156873858
18 NTRK1 NM_001007792.1(NTRK1): c.1651A> G (p.Met551Val) single nucleotide variant Pathogenic rs121964870 GRCh37 Chromosome 1, 156846318: 156846318
19 NTRK1 NM_001007792.1(NTRK1): c.1651A> G (p.Met551Val) single nucleotide variant Pathogenic rs121964870 GRCh38 Chromosome 1, 156876526: 156876526
20 NTRK1 NM_002529.3(NTRK1): c.1660delC (p.Arg554Glyfs) deletion Pathogenic rs80356675 GRCh37 Chromosome 1, 156846219: 156846219
21 NTRK1 NM_002529.3(NTRK1): c.1660delC (p.Arg554Glyfs) deletion Pathogenic rs80356675 GRCh38 Chromosome 1, 156876427: 156876427
22 NTRK1 NM_002529.3(NTRK1): c.1860_1861insT (p.Pro621Serfs) insertion Pathogenic rs80356676 GRCh37 Chromosome 1, 156848968: 156848969
23 NTRK1 NM_002529.3(NTRK1): c.1860_1861insT (p.Pro621Serfs) insertion Pathogenic rs80356676 GRCh38 Chromosome 1, 156879176: 156879177
24 NTRK1 NM_002529.3(NTRK1): c.2020G> T (p.Asp674Tyr) single nucleotide variant Pathogenic rs80356677 GRCh37 Chromosome 1, 156849128: 156849128
25 NTRK1 NM_002529.3(NTRK1): c.2020G> T (p.Asp674Tyr) single nucleotide variant Pathogenic rs80356677 GRCh38 Chromosome 1, 156879336: 156879336
26 NTRK1 NM_002529.3(NTRK1): c.851-33T> A single nucleotide variant Pathogenic rs80356674 GRCh37 Chromosome 1, 156843392: 156843392
27 NTRK1 NM_002529.3(NTRK1): c.851-33T> A single nucleotide variant Pathogenic rs80356674 GRCh38 Chromosome 1, 156873600: 156873600
28 NTRK1 NM_002529.3(NTRK1): c.1810C> T (p.His604Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs6336 GRCh37 Chromosome 1, 156848918: 156848918
29 NTRK1 NM_002529.3(NTRK1): c.1810C> T (p.His604Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs6336 GRCh38 Chromosome 1, 156879126: 156879126
30 NTRK1 NM_001012331.1(NTRK1): c.207_208delTG (p.Glu70Alafs) deletion Pathogenic rs398122810 GRCh37 Chromosome 1, 156830933: 156830934
31 NTRK1 NM_001012331.1(NTRK1): c.207_208delTG (p.Glu70Alafs) deletion Pathogenic rs398122810 GRCh38 Chromosome 1, 156861141: 156861142
32 NTRK1 NG_007493.1: g.64269_65649del1381 deletion Pathogenic GRCh37 Chromosome 1, 156844810: 156846190
33 NTRK1 NG_007493.1: g.64269_65649del1381 deletion Pathogenic GRCh38 Chromosome 1, 156875018: 156876398
34 NTRK1 NM_001012331.1(NTRK1): c.1869C> T (p.Ala623=) single nucleotide variant Benign rs6337 GRCh37 Chromosome 1, 156848995: 156848995
35 NTRK1 NM_001012331.1(NTRK1): c.1869C> T (p.Ala623=) single nucleotide variant Benign rs6337 GRCh38 Chromosome 1, 156879203: 156879203
36 NTRK1 NM_001012331.1(NTRK1): c.2034A> G (p.Gly678=) single nucleotide variant Benign/Likely benign rs34271945 GRCh37 Chromosome 1, 156849796: 156849796
37 NTRK1 NM_001012331.1(NTRK1): c.2034A> G (p.Gly678=) single nucleotide variant Benign/Likely benign rs34271945 GRCh38 Chromosome 1, 156880004: 156880004
38 NTRK1 NM_002529.3(NTRK1): c.717+4A> T single nucleotide variant Pathogenic rs606231466 GRCh38 Chromosome 1, 156868651: 156868651
39 NTRK1 NM_002529.3(NTRK1): c.717+4A> T single nucleotide variant Pathogenic rs606231466 GRCh37 Chromosome 1, 156838443: 156838443
40 NTRK1 NM_002529.3(NTRK1): c.1550G> A (p.Gly517Glu) single nucleotide variant Pathogenic rs606231467 GRCh38 Chromosome 1, 156876128: 156876128
41 NTRK1 NM_002529.3(NTRK1): c.1550G> A (p.Gly517Glu) single nucleotide variant Pathogenic rs606231467 GRCh37 Chromosome 1, 156845920: 156845920
42 NTRK1 NM_001012331.1(NTRK1): c.53G> A (p.Gly18Glu) single nucleotide variant Benign/Likely benign rs1007211 GRCh37 Chromosome 1, 156830779: 156830779
43 NTRK1 NM_001012331.1(NTRK1): c.53G> A (p.Gly18Glu) single nucleotide variant Benign/Likely benign rs1007211 GRCh38 Chromosome 1, 156860987: 156860987
44 NTRK1 NM_001012331.1(NTRK1): c.2039G> A (p.Arg680His) single nucleotide variant Uncertain significance rs754452975 GRCh37 Chromosome 1, 156849801: 156849801
45 NTRK1 NM_001012331.1(NTRK1): c.2039G> A (p.Arg680His) single nucleotide variant Uncertain significance rs754452975 GRCh38 Chromosome 1, 156880009: 156880009
46 NTRK1 NM_001012331.1(NTRK1): c.710C> T (p.Thr237Met) single nucleotide variant Benign/Likely benign rs55909005 GRCh37 Chromosome 1, 156838432: 156838432
47 NTRK1 NM_001012331.1(NTRK1): c.710C> T (p.Thr237Met) single nucleotide variant Benign/Likely benign rs55909005 GRCh38 Chromosome 1, 156868640: 156868640
48 NTRK1 NM_001012331.1(NTRK1): c.360-2A> C single nucleotide variant Pathogenic rs797045059 GRCh37 Chromosome 1, 156836700: 156836700
49 NTRK1 NM_001012331.1(NTRK1): c.360-2A> C single nucleotide variant Pathogenic rs797045059 GRCh38 Chromosome 1, 156866908: 156866908
50 NTRK1 NM_001012331.1(NTRK1): c.1040G> C (p.Arg347Pro) single nucleotide variant Likely pathogenic rs797045060 GRCh37 Chromosome 1, 156843614: 156843614

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

Pathways related to Insensitivity to Pain, Congenital, with Anhidrosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.42 BDNF NTRK1
2 11.22 BDNF NTRK1
3
Show member pathways
10.74 BDNF NTRK1
4 10.28 BDNF NTRK1

GO Terms for Insensitivity to Pain, Congenital, with Anhidrosis

Biological processes related to Insensitivity to Pain, Congenital, with Anhidrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon guidance GO:0007411 9.37 BDNF NTRK1
2 negative regulation of neuron apoptotic process GO:0043524 9.32 BDNF NTRK1
3 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.26 BDNF NTRK1
4 positive regulation of synapse assembly GO:0051965 9.16 BDNF NTRK1
5 neurotrophin TRK receptor signaling pathway GO:0048011 8.96 BDNF NTRK1
6 nerve growth factor signaling pathway GO:0038180 8.62 BDNF NTRK1

Sources for Insensitivity to Pain, Congenital, with Anhidrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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43 MedGen
45 MeSH
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47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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