CIPA
MCID: INS023
MIFTS: 48

Insensitivity to Pain, Congenital, with Anhidrosis (CIPA)

Categories: Bone diseases, Genetic diseases, Nephrological 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 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
Hereditary Sensory Neuropathy Type 4 12 15
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
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 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 : 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.

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.

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

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 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 self-injurious behavior 59 32 hallmark (90%) Very frequent (99-80%) HP:0100716
3 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
4 irritability 59 32 hallmark (90%) Very frequent (99-80%) HP:0000737
5 lack of skin elasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0100679
6 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
7 impaired pain sensation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007328
8 osteomyelitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002754
9 thickened skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0001072
10 abnormality of dental color 59 32 occasional (7.5%) Occasional (29-5%) HP:0011073
11 emotional lability 32 frequent (33%) HP:0000712
12 behavioral abnormality 59 Very frequent (99-80%)
13 nail dystrophy 32 HP:0008404
14 opacification of the corneal stroma 32 HP:0007759
15 keratitis 32 HP:0000491
16 nail dysplasia 32 HP:0002164
17 anhidrosis 32 HP:0000970
18 hyperactivity 32 frequent (33%) HP:0000752
19 lichenification 32 HP:0100725
20 poor wound healing 32 HP:0001058
21 episodic fever 32 HP:0001954
22 autoamputation of digits 32 HP:0007460
23 pain insensitivity 32 HP:0007021
24 self-mutilation 32 HP:0000742
25 postural hypotension with compensatory tachycardia 32 HP:0005307
26 corneal ulceration 32 HP:0012804
27 decreased number of small peripheral myelinated nerve fibers 32 HP:0007249
28 hypotrichosis of the scalp 32 HP:0004782
29 corneal scarring 32 HP:0000559
30 recurrent corneal erosions 32 HP:0000495
31 neuropathic arthropathy 32 HP:0002821
32 acral ulceration 32 HP:0006121

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 120)
# 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
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
7
Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA). ( 30201336 )
2018
8
Postoperative redislocation of the hip in a patient with congenital insensitivity to pain with anhidrosis: A case report and review of literature. ( 30510952 )
2018
9
Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon-LefA"vre Syndrome? ( 29142767 )
2017
10
Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies. ( 28177573 )
2017
11
[Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis]. ( 28981924 )
2017
12
Anesthetic management during adenotonsillectomy for twins with congenital insensitivity to pain with anhidrosis: two case reports. ( 28838318 )
2017
13
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
14
Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients. ( 28192073 )
2017
15
Total Hip Arthroplasty in an Inveterate Femoral Neck Fracture in a Patient with Congenital Insensitivity to Pain with Anhidrosis. ( 29270564 )
2017
16
Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis. ( 27265460 )
2016
17
Anesthetic considerations in a parturient with congenital insensitivity to pain with anhidrosis. ( 27884666 )
2016
18
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
19
Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis. ( 27584961 )
2016
20
Congenital insensitivity to pain with anhidrosis in Sudanese children. ( 28096563 )
2016
21
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
22
Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report. ( 25984678 )
2015
23
Norepinephrine deficiency with normal blood pressure control in congenital insensitivity to pain with anhidrosis. ( 25627679 )
2015
24
Congenital Insensitivity to Pain with Anhidrosis in Twin Sisters with Sensorineural Deafness. ( 25776000 )
2015
25
Congenital insensitivity to pain with anhidrosis. ( 26032179 )
2015
26
Anesthetic Management of Patients with Congenital Insensitivity to Pain with Anhidrosis: A Retrospective Analysis of 358 Procedures Performed Under General Anesthesia. ( 26484462 )
2015
27
Skeletal complications in congenital insensitivity to pain with anhidrosis: a case series of 14 patients and review of articles published in Japanese. ( 24953503 )
2014
28
A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis. ( 25519000 )
2014
29
Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis. ( 25316729 )
2014
30
A case of congenital insensitivity to pain with anhidrosis. ( 26078659 )
2014
31
Seeing is not always believing: congenital insensitivity to pain with anhidrosis mimicking leprosy. ( 24290131 )
2013
32
Congenital insensitivity to pain with anhidrosis presenting with palmoplantar keratoderma. ( 22957891 )
2013
33
Congenital insensitivity to pain with anhidrosis: a case report of a 33-year-old patient. ( 22422007 )
2013
34
Congenital insensitivity to pain with anhidrosis in an Iranian patient. ( 25337332 )
2013
35
Severe complications in wound healing and fracture treatment in two brothers with congenital insensitivity to pain with anhidrosis. ( 22814739 )
2013
36
360A^ fusion for Charcot spine caused by congenital insensitivity to pain with anhidrosis. ( 24157171 )
2013
37
Pathological fracture of the mandible in a paediatric patient with congenital insensitivity to pain with anhidrosis (CIPA). ( 22858419 )
2013
38
Bispectral index monitoring in a patient with combination of congenital insensitivity to pain with anhidrosis (CIPA) and Shwachman-Diamond syndrome. ( 23828451 )
2013
39
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
40
Morbidity characteristics of patients with congenital insensitivity to pain with anhidrosis (CIPA). ( 23744299 )
2013
41
Old fractures in two patients with congenital insensitivity to pain with anhidrosis: radiological findings. ( 23478071 )
2013
42
Congenital insensitivity to pain with anhidrosis: a case with preserved itch sensation to histamine and partial pain sensation. ( 22032467 )
2012
43
Congenital insensitivity to pain with anhidrosis. ( 23248706 )
2012
44
Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. ( 22653642 )
2012
45
Nerve growth factor and the physiology ofA pain: lessons from congenital insensitivity to pain with anhidrosis. ( 22882139 )
2012
46
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
47
Neurotrophic keratitis and congenital insensitivity to pain with anhidrosis--a case report with 10-year follow-up. ( 20847675 )
2011
48
Osteomyelitis of the mandible in a group of 33 pediatric patients with congenital insensitivity to pain with anhidrosis. ( 21281970 )
2011
49
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
50
Congenital Insensitivity to Pain with Anhidrosis (CIPA): A Case Report. ( 22737448 )
2011

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 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 318)
# Gene Variation Type Significance SNP ID Assembly Location
1 NTRK1 NM_001012331.1(NTRK1): c.2028+3A> C 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 NM_001007792.1(NTRK1): c.1730G> T (p.Gly577Val) single nucleotide variant Conflicting interpretations of pathogenicity rs6339 GRCh37 Chromosome 1, 156848946: 156848946
11 NTRK1 NM_001007792.1(NTRK1): c.1730G> T (p.Gly577Val) single nucleotide variant Conflicting interpretations of pathogenicity rs6339 GRCh38 Chromosome 1, 156879154: 156879154
12 NTRK1 NTRK1, 1-BP INS, 1926T insertion Pathogenic
13 NTRK1 NM_001007792.1(NTRK1): c.1976C> T (p.Pro659Leu) single nucleotide variant Pathogenic rs121964868 GRCh37 Chromosome 1, 156849828: 156849828
14 NTRK1 NM_001007792.1(NTRK1): c.1976C> T (p.Pro659Leu) single nucleotide variant Pathogenic rs121964868 GRCh38 Chromosome 1, 156880036: 156880036
15 NTRK1 NM_001007792.1(NTRK1): c.986A> G (p.Tyr329Cys) single nucleotide variant Pathogenic rs121964869 GRCh37 Chromosome 1, 156843650: 156843650
16 NTRK1 NM_001007792.1(NTRK1): c.986A> G (p.Tyr329Cys) single nucleotide variant Pathogenic rs121964869 GRCh38 Chromosome 1, 156873858: 156873858
17 NTRK1 NM_001007792.1(NTRK1): c.1651A> G (p.Met551Val) single nucleotide variant Pathogenic rs121964870 GRCh37 Chromosome 1, 156846318: 156846318
18 NTRK1 NM_001007792.1(NTRK1): c.1651A> G (p.Met551Val) single nucleotide variant Pathogenic rs121964870 GRCh38 Chromosome 1, 156876526: 156876526
19 NTRK1 NM_002529.3(NTRK1): c.1660delC (p.Arg554Glyfs) deletion Pathogenic rs80356675 GRCh37 Chromosome 1, 156846219: 156846219
20 NTRK1 NM_002529.3(NTRK1): c.1660delC (p.Arg554Glyfs) deletion Pathogenic rs80356675 GRCh38 Chromosome 1, 156876427: 156876427
21 NTRK1 NM_002529.3(NTRK1): c.1860_1861insT (p.Pro621Serfs) insertion Pathogenic rs80356676 GRCh37 Chromosome 1, 156848968: 156848969
22 NTRK1 NM_002529.3(NTRK1): c.1860_1861insT (p.Pro621Serfs) insertion Pathogenic rs80356676 GRCh38 Chromosome 1, 156879176: 156879177
23 NTRK1 NM_002529.3(NTRK1): c.2020G> T (p.Asp674Tyr) single nucleotide variant Pathogenic rs80356677 GRCh37 Chromosome 1, 156849128: 156849128
24 NTRK1 NM_002529.3(NTRK1): c.2020G> T (p.Asp674Tyr) single nucleotide variant Pathogenic rs80356677 GRCh38 Chromosome 1, 156879336: 156879336
25 NTRK1 NM_002529.3(NTRK1): c.851-33T> A single nucleotide variant Pathogenic rs80356674 GRCh37 Chromosome 1, 156843392: 156843392
26 NTRK1 NM_002529.3(NTRK1): c.851-33T> A single nucleotide variant Pathogenic rs80356674 GRCh38 Chromosome 1, 156873600: 156873600
27 NTRK1 NM_002529.3(NTRK1): c.1810C> T (p.His604Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs6336 GRCh37 Chromosome 1, 156848918: 156848918
28 NTRK1 NM_002529.3(NTRK1): c.1810C> T (p.His604Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs6336 GRCh38 Chromosome 1, 156879126: 156879126
29 NTRK1 NM_001012331.1(NTRK1): c.207_208delTG (p.Glu70Alafs) deletion Pathogenic rs398122810 GRCh37 Chromosome 1, 156830933: 156830934
30 NTRK1 NM_001012331.1(NTRK1): c.207_208delTG (p.Glu70Alafs) deletion Pathogenic rs398122810 GRCh38 Chromosome 1, 156861141: 156861142
31 NTRK1 NG_007493.1: g.64269_65649del1381 deletion Pathogenic GRCh37 Chromosome 1, 156844810: 156846190
32 NTRK1 NG_007493.1: g.64269_65649del1381 deletion Pathogenic GRCh38 Chromosome 1, 156875018: 156876398
33 NTRK1 NM_001012331.1(NTRK1): c.2034A> G (p.Gly678=) single nucleotide variant Benign/Likely benign rs34271945 GRCh37 Chromosome 1, 156849796: 156849796
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 GRCh38 Chromosome 1, 156880004: 156880004
37 NTRK1 NM_002529.3(NTRK1): c.717+4A> T single nucleotide variant Pathogenic rs606231466 GRCh38 Chromosome 1, 156868651: 156868651
38 NTRK1 NM_002529.3(NTRK1): c.717+4A> T single nucleotide variant Pathogenic rs606231466 GRCh37 Chromosome 1, 156838443: 156838443
39 NTRK1 NM_002529.3(NTRK1): c.1550G> A (p.Gly517Glu) single nucleotide variant Pathogenic rs606231467 GRCh38 Chromosome 1, 156876128: 156876128
40 NTRK1 NM_002529.3(NTRK1): c.1550G> A (p.Gly517Glu) single nucleotide variant Pathogenic rs606231467 GRCh37 Chromosome 1, 156845920: 156845920
41 NTRK1 NM_001012331.1(NTRK1): c.53G> A (p.Gly18Glu) single nucleotide variant Benign/Likely benign rs1007211 GRCh37 Chromosome 1, 156830779: 156830779
42 NTRK1 NM_001012331.1(NTRK1): c.53G> A (p.Gly18Glu) single nucleotide variant Benign/Likely benign rs1007211 GRCh38 Chromosome 1, 156860987: 156860987
43 NTRK1 NM_001012331.1(NTRK1): c.2039G> A (p.Arg680His) single nucleotide variant Uncertain significance rs754452975 GRCh37 Chromosome 1, 156849801: 156849801
44 NTRK1 NM_001012331.1(NTRK1): c.2039G> A (p.Arg680His) single nucleotide variant Uncertain significance rs754452975 GRCh38 Chromosome 1, 156880009: 156880009
45 NTRK1 NM_001012331.1(NTRK1): c.710C> T (p.Thr237Met) single nucleotide variant Benign/Likely benign rs55909005 GRCh37 Chromosome 1, 156838432: 156838432
46 NTRK1 NM_001012331.1(NTRK1): c.710C> T (p.Thr237Met) single nucleotide variant Benign/Likely benign rs55909005 GRCh38 Chromosome 1, 156868640: 156868640
47 NTRK1 NM_001012331.1(NTRK1): c.360-2A> C single nucleotide variant Pathogenic rs797045059 GRCh37 Chromosome 1, 156836700: 156836700
48 NTRK1 NM_001012331.1(NTRK1): c.360-2A> C single nucleotide variant Pathogenic rs797045059 GRCh38 Chromosome 1, 156866908: 156866908
49 NTRK1 NM_001012331.1(NTRK1): c.1040G> C (p.Arg347Pro) single nucleotide variant Likely pathogenic rs797045060 GRCh37 Chromosome 1, 156843614: 156843614
50 NTRK1 NM_001012331.1(NTRK1): c.1040G> C (p.Arg347Pro) single nucleotide variant Likely pathogenic rs797045060 GRCh38 Chromosome 1, 156873822: 156873822

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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