CIPA
MCID: INS023
MIFTS: 52

Insensitivity to Pain, Congenital, with Anhidrosis (CIPA)

Categories: Genetic 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 75 24 53 25 74
Hsan Iv 57 24 53 74 55
Hsan4 57 25 59 74
Cipa 57 53 25 74
Hereditary Insensitivity to Pain with Anhidrosis 25 29 6
Neuropathy, Congenital Sensory, with Anhidrosis 57 53 74
Familial Dysautonomia, Type Ii 57 53 74
Hereditary Sensory and Autonomic Neuropathy Type Iv 25 59
Hereditary Sensory and Autonomic Neuropathy Iv 57 74
Hereditary Sensory and Autonomic Neuropathy 4 75 53
Hereditary Sensory Neuropathy Type Iv 12 53
Hereditary Sensory Neuropathy Type 4 12 15
Hsan Type Iv 25 72
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 Sensory Autonomic 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:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070146
MeSH 44 D009477
NCIt 50 C118633
SNOMED-CT 68 62985007
ICD10 via Orphanet 34 G60.8
UMLS via Orphanet 73 C0020074
Orphanet 59 ORPHA642
MedGen 42 C0020074
UMLS 72 C0020074

Summaries for Insensitivity to Pain, Congenital, with Anhidrosis

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. An inability to feel pain and temperature often leads to repeated severe injuries. Unintentional self-injury is common in people with CIPA, typically by biting the tongue, lips, or fingers, which may lead to spontaneous amputation of the affected area. In addition, people with CIPA heal slowly from skin and bone injuries. Repeated trauma can lead to chronic bone infections (osteomyelitis) or a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed. Normally, sweating helps cool the body temperature. However, in people with CIPA, anhidrosis often causes recurrent, extremely high fevers (hyperpyrexia) and seizures brought on by high temperature (febrile seizures). In addition to the characteristic features, there are other signs and symptoms of CIPA. Many affected individuals have thick, leathery skin (lichenification) on the palms of their hands or misshapen fingernails or toenails. They can also have patches on their scalp where hair does not grow (hypotrichosis). About half of people with CIPA show signs of hyperactivity or emotional instability, and many affected individuals have intellectual disability. Some people with CIPA have weak muscle tone (hypotonia) when they are young, but muscle strength and tone become more normal as they get older.

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 pain sensitivity quantitative trait locus 1. 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. The drugs Diltiazem and chloroquine have been mentioned in the context of this disorder. 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.

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.

UniProtKB/Swiss-Prot : 74 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 : 75 Congenital insensitivity to pain with anhidrosis (CIPA) is rare autosomal recessive disorder of the... more...

More information from OMIM: 256800 PS162400
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:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 hereditary sensory neuropathy 11.6
2 pain sensitivity quantitative trait locus 1 10.8
3 anhidrosis 10.7
4 autosomal recessive disease 10.5
5 dental caries 10.5
6 autonomic neuropathy 10.5
7 keratitis, hereditary 10.4
8 cardiac arrest 10.4
9 neurotrophic keratopathy 10.4
10 corneal ulcer 10.3
11 osteomyelitis 10.3
12 pyruvate kinase deficiency of red cells 10.2
13 neuropathy 10.2
14 paternal uniparental disomy 10.2
15 polyneuropathy 10.2
16 arthropathy 10.2
17 autonomic dysfunction 10.2
18 cleft palate, isolated 10.2
19 attention deficit-hyperactivity disorder 10.2
20 thrombophilia due to thrombin defect 10.2
21 immune deficiency disease 10.2
22 papillon-lefevre syndrome 10.2
23 leprosy 3 10.2
24 fabry disease 10.2
25 incontinentia pigmenti 10.2
26 branchiootic syndrome 1 10.2
27 west syndrome 10.2
28 pain agnosia 10.2
29 ptosis 10.2
30 adenoid hypertrophy 10.2
31 bone resorption disease 10.2
32 hypopyon 10.2
33 amnestic disorder 10.2
34 orbital cellulitis 10.2
35 tarsal tunnel syndrome 10.2
36 relapsing fever 10.2
37 toxic shock syndrome 10.2
38 ectodermal dysplasia 10.2
39 keratopathy 10.2
40 agammaglobulinemia 10.2
41 palmoplantar keratosis 10.2
42 cellulitis 10.2
43 congenital myasthenic syndrome 10.2
44 septic arthritis 10.2
45 herpes zoster 10.2
46 exophthalmos 10.2
47 ethmoid sinusitis 10.2
48 hansen's disease 10.2
49 pseudobulbar affect 10.2
50 pure autonomic failure 10.2

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:

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteomyelitis
neuropathic arthropathy

Skin Nails Hair Hair:
hypotrichosis of the scalp

Cardiovascular Vascular:
postural hypotension with compensatory tachycardia

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 scarring
corneal ulceration
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

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

Drugs for Insensitivity to Pain, Congenital, with Anhidrosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diltiazem Approved, Investigational Phase 1 42399-41-7 39186
2
chloroquine Approved, Investigational, Vet_approved Phase 1 54-05-7 2719
3
Ranolazine Approved, Investigational Phase 1 142387-99-3, 95635-55-5 56959
4
Dofetilide Approved, Investigational Phase 1 115256-11-6 71329
5
Lopinavir Approved Phase 1 192725-17-0 92727
6
Ritonavir Approved, Investigational Phase 1 155213-67-5 392622
7
Verapamil Approved Phase 1 52-53-9 2520
8
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
9 HIV Protease Inhibitors Phase 1
10 Analgesics Phase 1
11 Antihypertensive Agents Phase 1
12 Hormones Phase 1
13 Cytochrome P-450 CYP3A Inhibitors Phase 1
14 Analgesics, Non-Narcotic Phase 1
15
protease inhibitors Phase 1
16 Cytochrome P-450 Enzyme Inhibitors Phase 1
17 Diuretics, Potassium Sparing Phase 1
18 Sodium Channel Blockers Phase 1
19 Anti-Infective Agents Phase 1
20 Anti-Inflammatory Agents, Non-Steroidal Phase 1
21 Chloroquine diphosphate Phase 1 50-63-5
22 Antiparasitic Agents Phase 1
23 Anthelmintics Phase 1
24 Anti-Arrhythmia Agents Phase 1
25 Anti-HIV Agents Phase 1
26 Anti-Inflammatory Agents Phase 1
27 Vasodilator Agents Phase 1
28 Anti-Retroviral Agents Phase 1
29 Antimalarials Phase 1
30 calcium channel blockers Phase 1
31 Antiviral Agents Phase 1
32 Antiprotozoal Agents Phase 1
33 Calcium, Dietary Phase 1
34 Antirheumatic Agents Phase 1
35 Potassium Channel Blockers Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II, Randomized, Double Blind, Cross-over, Placebo-controlled Study on Norepinephrine Replenishment Therapy Using L-DOPS in Congenital Insensitivity to Pain With Anhidrosis Patients Withdrawn NCT02624310 Phase 2 Droxidopa (L-DOPS);Placebo
2 Comprehensive in Vitro Proarrhythmia Assay (CiPA) Clinical Phase 1 ECG Biomarker Validation Study (CiPA Phase 1 ECG Biomarker Study) Completed NCT03070470 Phase 1 Ranolazine;Verapamil;Lopinavir / Ritonavir;Chloroquine;Placebo;Dofetilide and Diltiazem
3 Cost-effectiveness Study of the CIPA Screening Method for Patients With Nutritional Risk at Hospital Admission Completed NCT02721706

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, Thyroid, Prostate, Breast

Publications for Insensitivity to Pain, Congenital, with Anhidrosis

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

(show top 50) (show all 102)
# Title Authors PMID Year
1
Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies. 4 8 71
10861667 2000
2
Innate immunity. A Spaetzle-like role for nerve growth factor β in vertebrate immunity to Staphylococcus aureus. 8 71
25359976 2014
3
No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V. 38 4 71
12210794 2002
4
Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. 38 4 71
11748840 2001
5
A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V. 38 4 71
11310631 2001
6
An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis. 4 8
12949319 2003
7
Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. 4 71
11159935 2001
8
Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis. 4 71
11071380 2000
9
Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families. 4 71
10982191 2000
10
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. 4 71
10330344 1999
11
Congenital insensitivity to pain with anhidrosis: ocular and systemic manifestations. 4 8
10088743 1999
12
Congenital insensitivity to pain with anhidrosis: lack of eccrine sweat gland innervation confirmed. 4 8
9620018 1998
13
Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. 4 8
8696348 1996
14
Congenital familial sensory neuropathy with anhidrosis. 4 8
4158991 1966
15
Congenital insensitivity to pain with anhydrosis. A unique syndrome in two male siblings. 4 8
13979626 1963
16
Congenital Insensitivity to Pain with Anhidrosis 38 71
20301726 2008
17
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis. 9 38 4
18077166 2008
18
Congenital Insensitivity to Pain Overview 71
29419974 2018
19
From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V. 38 4
24494679 2014
20
Hereditary sensory and autonomic neuropathy type IV and orthopaedic complications. 38 4
24070693 2013
21
Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan. 38 4
23495212 2013
22
Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis. 8
19089473 2009
23
Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene. 71
19250380 2009
24
The M581V mutation, associated with a mild form of congenital insensitivity to pain with anhidrosis, causes partial inactivation of the NTRK1 receptor. 71
12406349 2002
25
Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. 38 4
12102460 2002
26
Cutaneous innervation in hereditary sensory and autonomic neuropathy type IV. 8
10891921 2000
27
A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis. 71
10233776 1999
28
A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis. 71
10090906 1999
29
Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV) 8
7527213 1994
30
Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene. 8
8145823 1994
31
Congenital sensory neuropathy with anhidrosis. 8
3281596 1988
32
Hereditary sensory neuropathy with neurotrophic keratitis. Description of an autosomal recessive disorder with a selective reduction of small myelinated nerve fibres and a discussion of the classification of the hereditary sensory neuropathies. 71
3472625 1987
33
Congenital sensory neuropathy with skeletal dysplasia. 8
6573468 1983
34
Congenital insensitivity to pain with anhidrosis in a 2-month-old boy. 8
6167904 1981
35
Eccrine sweat glands are not innervated in hereditary sensory neuropathy type IV. An electron-microscopic study. 8
6167137 1981
36
Congenital insensitivity to pain with anhidrosis. 8
6154886 1980
37
Congenital insensitivity and naloxone. 8
79883 1978
38
Congenital sensory neuropathy with selective loss of small myelinated fibers. 71
77656 1978
39
Congenital sensory neuropathy with anhidrosis: a case report. 8
1250661 1976
40
Absence of taste in type II familial dysautonomia: unresponsiveness to methacholine despite the presence of taste buds. 8
5450270 1970
41
Congenital sensory neuropathy with anhidrosis. 8
4171106 1968
42
A syndrome of the neural crest. 8
4161748 1966
43
ANATOMIC CHANGES IN CONGENITAL INSENSITIVITY TO PAIN. ABSENCE OF SMALL PRIMARY SENSORY NEURONS IN GANGLIA, ROOTS, AND LISSAUER'S TRACT. 8
14224855 1965
44
ABSENCE OF LISSAUER'S TRACT AND SMALL DORSAL ROOT AXONS IN FAMILIAL, CONGENITAL, UNIVERSAL INSENSITIVITY TO PAIN. 8
14272277 1963
45
Seeing is not always believing: congenital insensitivity to pain with anhidrosis mimicking leprosy. 4
24290131 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. 4
23799134 2013
47
Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis. 4
22882139 2012
48
Congenital Insensitivity to Pain and Anhydrosis (CIPA) Syndrome; A Report of 4 Cases. 4
23400697 2012
49
A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy. 4
20978020 2011
50
Evaluation of nonnociceptive sensation in patients with congenital insensitivity to pain with anhidrosis. 6
20013280 2010

Variations for Insensitivity to Pain, Congenital, with Anhidrosis

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

6 (show top 50) (show all 203)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NTRK1 NM_002529.3(NTRK1): c.638T> C (p.Leu213Pro) single nucleotide variant Pathogenic rs747711259 1:156838360-156838360 1:156868568-156868568
2 NTRK1 NM_002529.3(NTRK1): c.1729G> C (p.Gly577Arg) single nucleotide variant Pathogenic rs121964866 1:156846288-156846288 1:156876496-156876496
3 NTRK1 NM_002529.3(NTRK1): c.2339G> C (p.Arg780Pro) single nucleotide variant Pathogenic rs35669708 1:156851382-156851382 1:156881590-156881590
4 NTRK1 NM_002529.3(NTRK1): c.25C> T (p.Gln9Ter) single nucleotide variant Pathogenic rs80356673 1:156830751-156830751 1:156860959-156860959
5 NTRK1 NTRK1, IVS4, G-C, -1 AND ARG85SER single nucleotide variant Pathogenic
6 NTRK1 NTRK1, IVS7AS, T-A, -33 single nucleotide variant Pathogenic
7 NTRK1 NM_002529.3(NTRK1): c.1759A> G (p.Met587Val) single nucleotide variant Pathogenic rs121964870 1:156846318-156846318 1:156876526-156876526
8 NTRK1 NM_002529.3(NTRK1): c.1660del (p.Arg554fs) deletion Pathogenic rs80356675 1:156846219-156846219 1:156876427-156876427
9 NTRK1 NM_002529.3(NTRK1): c.1860_1861insT (p.Pro621fs) insertion Pathogenic rs80356676 1:156848968-156848969 1:156879176-156879177
10 NTRK1 NM_002529.3(NTRK1): c.2020G> T (p.Asp674Tyr) single nucleotide variant Pathogenic rs80356677 1:156849128-156849128 1:156879336-156879336
11 NTRK1 NM_002529.3(NTRK1): c.851-33T> A single nucleotide variant Pathogenic rs80356674 1:156843392-156843392 1:156873600-156873600
12 NTRK1 NTRK1, 1-BP INS, 1926T insertion Pathogenic
13 NTRK1 NM_002529.3(NTRK1): c.207_208del (p.Glu70fs) deletion Pathogenic rs398122810 1:156830933-156830934 1:156861141-156861142
14 NTRK1 NM_002529.3(NTRK1): c.1354+13_1634del deletion Pathogenic 1:156844810-156846190 1:156875018-156876398
15 NTRK1 NM_002529.3(NTRK1): c.717+4A> T single nucleotide variant Pathogenic rs606231466 1:156838443-156838443 1:156868651-156868651
16 NTRK1 NM_002529.3(NTRK1): c.1550G> A (p.Gly517Glu) single nucleotide variant Pathogenic rs606231467 1:156845920-156845920 1:156876128-156876128
17 NTRK1 NM_002529.3(NTRK1): c.360-2A> C single nucleotide variant Pathogenic rs797045059 1:156836700-156836700 1:156866908-156866908
18 NTRK1 NM_002529.3(NTRK1): c.1659del (p.Arg554fs) deletion Pathogenic 1:156846218-156846218 1:156876426-156876426
19 NTRK1 NM_002529.3(NTRK1): c.1310_1313dup (p.Leu439fs) duplication Pathogenic 1:156844756-156844759 1:156874964-156874967
20 NTRK1 NM_002529.3(NTRK1): c.543del (p.Leu183fs) deletion Pathogenic 1:156838010-156838010 1:156868218-156868218
21 NTRK1 NM_002529.3(NTRK1): c.2303C> T (p.Pro768Leu) single nucleotide variant Pathogenic 1:156851346-156851346 1:156881554-156881554
22 NTRK1 NM_002529.3(NTRK1): c.396G> A (p.Trp132Ter) single nucleotide variant Pathogenic 1:156836738-156836738 1:156866946-156866946
23 NTRK1 NM_002529.3(NTRK1): c.538C> T (p.Gln180Ter) single nucleotide variant Pathogenic 1:156838005-156838005 1:156868213-156868213
24 NTRK1 NM_002529.3(NTRK1): c.1031_1043del (p.Gly344fs) deletion Pathogenic 1:156843605-156843617 1:156873813-156873825
25 NTRK1 NM_002529.3(NTRK1): c.424G> T (p.Glu142Ter) single nucleotide variant Pathogenic 1:156836766-156836766 1:156866974-156866974
26 NTRK1 NM_001012331.1(NTRK1): c.575delG (p.Gly192Valfs) deletion Pathogenic
27 NTRK1 NM_002529.3(NTRK1): c.354_359+3del deletion Likely pathogenic 1:156834586-156834594 1:156864794-156864802
28 NTRK1 NM_002529.3(NTRK1): c.1196-3_1196-1del deletion Likely pathogenic 1:156844360-156844362 1:156874568-156874570
29 NTRK1 NM_002529.3(NTRK1): c.1040G> C (p.Arg347Pro) single nucleotide variant Likely pathogenic rs797045060 1:156843614-156843614 1:156873822-156873822
30 NTRK1 NM_002529.3(NTRK1): c.2084C> T (p.Pro695Leu) single nucleotide variant Likely pathogenic rs121964868 1:156849828-156849828 1:156880036-156880036
31 NTRK1 NM_002529.3(NTRK1): c.1196-1G> A single nucleotide variant Likely pathogenic rs764171953 1:156844362-156844362 1:156874570-156874570
32 NTRK1 NM_002529.3(NTRK1): c.2046+3A> C single nucleotide variant Likely pathogenic 1:156849157-156849157 1:156879365-156879365
33 NTRK1 NM_002529.3(NTRK1): c.2046+1G> T single nucleotide variant Likely pathogenic rs1452844753 1:156849155-156849155 1:156879363-156879363
34 NTRK1 NM_002529.3(NTRK1): c.2047-6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs762866535 1:156849785-156849785 1:156879993-156879993
35 NTRK1 NM_002529.3(NTRK1): c.1187C> T (p.Ser396Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs199646180 1:156844184-156844184 1:156874392-156874392
36 NTRK1 NM_002529.3(NTRK1): c.2281C> T (p.Arg761Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs759637817 1:156851324-156851324 1:156881532-156881532
37 NTRK1 NM_002529.3(NTRK1): c.1076A> G (p.Tyr359Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964869 1:156843650-156843650 1:156873858-156873858
38 NTRK1 NM_002529.3(NTRK1): c.16C> T (p.Arg6Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201472270 1:156830742-156830742 1:156860950-156860950
39 NTRK1 NM_002529.3(NTRK1): c.505G> A (p.Gly169Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs367836863 1:156837972-156837972 1:156868180-156868180
40 NTRK1 NM_002529.3(NTRK1): c.865C> A (p.Gln289Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs137979116 1:156843439-156843439 1:156873647-156873647
41 NTRK1 NM_002529.3(NTRK1): c.940C> T (p.Arg314Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137994522 1:156843514-156843514 1:156873722-156873722
42 NTRK1 NM_002529.3(NTRK1): c.10G> A (p.Gly4Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs556840308 1:156830736-156830736 1:156860944-156860944
43 NTRK1 NM_002529.3(NTRK1): c.157G> C (p.Asp53His) single nucleotide variant Conflicting interpretations of pathogenicity rs200815412 1:156830883-156830883 1:156861091-156861091
44 NTRK1 NM_002529.3(NTRK1): c.212+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs183517027 1:156830948-156830948 1:156861156-156861156
45 NTRK1 NM_002529.3(NTRK1): c.1236C> T (p.Asp412=) single nucleotide variant Conflicting interpretations of pathogenicity rs147438950 1:156844403-156844403 1:156874611-156874611
46 NTRK1 NM_002529.3(NTRK1): c.1252-15C> G single nucleotide variant Conflicting interpretations of pathogenicity rs186649954 1:156844683-156844683 1:156874891-156874891
47 NTRK1 NM_002529.3(NTRK1): c.428+12C> A single nucleotide variant Conflicting interpretations of pathogenicity rs41267425 1:156836782-156836782 1:156866990-156866990
48 NTRK1 NM_002529.3(NTRK1): c.570C> G (p.Ser190Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138608619 1:156838037-156838037 1:156868245-156868245
49 NTRK1 NM_002529.3(NTRK1): c.1522C> A (p.Arg508=) single nucleotide variant Conflicting interpretations of pathogenicity rs200575096 1:156845892-156845892 1:156876100-156876100
50 NTRK1 NM_002529.3(NTRK1): c.1728C> T (p.Phe576=) single nucleotide variant Conflicting interpretations of pathogenicity rs6335 1:156846287-156846287 1:156876495-156876495

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

74 (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

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 NTRK1 BDNF
2 11.22 NTRK1 BDNF
3
Show member pathways
10.74 NTRK1 BDNF
4 10.28 NTRK1 BDNF

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 NTRK1 BDNF
2 negative regulation of neuron apoptotic process GO:0043524 9.32 NTRK1 BDNF
3 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.26 NTRK1 BDNF
4 positive regulation of synapse assembly GO:0051965 9.16 NTRK1 BDNF
5 neurotrophin TRK receptor signaling pathway GO:0048011 8.96 NTRK1 BDNF
6 nerve growth factor signaling pathway GO:0038180 8.62 NTRK1 BDNF

Sources for Insensitivity to Pain, Congenital, with Anhidrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....