CIPA
MCID: INS023
MIFTS: 54

Insensitivity to Pain, Congenital, with Anhidrosis (CIPA)

Categories: Bone diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin 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 56 12 52 13
Congenital Insensitivity to Pain with Anhidrosis 74 24 52 25 58 73
Hsan Iv 56 24 52 73 54
Cipa 56 52 25 58 73
Hsan4 56 25 58 73
Hereditary Insensitivity to Pain with Anhidrosis 25 29 6
Neuropathy, Congenital Sensory, with Anhidrosis 56 52 73
Familial Dysautonomia, Type Ii 56 52 73
Hereditary Sensory and Autonomic Neuropathy Type Iv 25 58
Hereditary Sensory and Autonomic Neuropathy Iv 56 73
Hereditary Sensory and Autonomic Neuropathy 4 74 52
Hereditary Sensory Neuropathy Type Iv 12 52
Hereditary Sensory Neuropathy Type 4 12 15
Hsan Type Iv 25 71
Hereditary Sensory and Autonomic Neuropathy Iv; Hsan4 56
Hereditary Sensory and Autonomic Neuropathy, Type 4 25
Hereditary Sensory and Autonomic Neuropathy Type 4 58
Hereditary Sensory Autonomic Neuropathy Type Iv 24
Familial Dysautonomia, Type 2 52
Hsan 4 52
Hsnan4 52

Characteristics:

Orphanet epidemiological data:

58
hereditary sensory and autonomic neuropathy type 4
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
insensitivity to pain, congenital, with anhidrosis:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070146
OMIM 56 256800
OMIM Phenotypic Series 56 PS162400
MeSH 43 D009477
NCIt 49 C118633
SNOMED-CT 67 62985007
ICD10 via Orphanet 33 G60.8
UMLS via Orphanet 72 C0020074
Orphanet 58 ORPHA642
MedGen 41 C0020074
UMLS 71 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 neuropathy, hereditary sensory and autonomic, type iia 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. The drugs Verapamil and Lopinavir have been mentioned in the context of this disorder. Affiliated tissues include bone, skin 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 : 52 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 : 73 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 : 74 Congenital insensitivity to pain with anhidrosis (CIPA) is a 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 88)
# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory and autonomic, type iia 31.6 NTRK1 NAA50
2 hereditary sensory neuropathy 31.3 NTRK1 NAA50 BDNF
3 anhidrosis 30.6 NTRK1 NAA50
4 neuropathy, hereditary sensory and autonomic, type v 29.4 NTRK1 NAA50 BDNF
5 sensory peripheral neuropathy 29.0 NTRK1 NAA50 BDNF
6 pain sensitivity quantitative trait locus 1 10.8
7 autosomal recessive disease 10.5
8 dental caries 10.5
9 autonomic neuropathy 10.4
10 keratitis, hereditary 10.4
11 cardiac arrest 10.4
12 neurotrophic keratopathy 10.4
13 septic arthritis 10.3
14 corneal ulcer 10.3
15 osteomyelitis 10.3
16 pyruvate kinase deficiency of red cells 10.2
17 paternal uniparental disomy 10.2
18 polyneuropathy 10.2
19 arthropathy 10.2
20 autonomic dysfunction 10.2
21 cleft palate, isolated 10.2
22 attention deficit-hyperactivity disorder 10.2
23 neuropathy, hereditary sensory and autonomic, type ia 10.2
24 thrombophilia due to thrombin defect 10.2
25 immune deficiency disease 10.2
26 papillon-lefevre syndrome 10.2
27 leprosy 3 10.2
28 fabry disease 10.2
29 incontinentia pigmenti 10.2
30 branchiootic syndrome 1 10.2
31 west syndrome 10.2
32 pain agnosia 10.2
33 ptosis 10.2
34 adenoid hypertrophy 10.2
35 hereditary sensory and autonomic neuropathy type 1 10.2
36 bone resorption disease 10.2
37 hypopyon 10.2
38 microcephaly 10.2
39 amnestic disorder 10.2
40 orbital cellulitis 10.2
41 tarsal tunnel syndrome 10.2
42 relapsing fever 10.2
43 toxic shock syndrome 10.2
44 ectodermal dysplasia 10.2
45 keratopathy 10.2
46 agammaglobulinemia 10.2
47 palmoplantar keratosis 10.2
48 cellulitis 10.2
49 congenital myasthenic syndrome 10.2
50 herpes zoster 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:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 self-injurious behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0100716
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
5 irritability 58 31 hallmark (90%) Very frequent (99-80%) HP:0000737
6 osteomyelitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002754
7 impaired pain sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007328
8 emotional lability 31 frequent (33%) HP:0000712
9 hyperactivity 31 frequent (33%) HP:0000752
10 lack of skin elasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0100679
11 thickened skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0001072
12 abnormality of dental color 58 31 occasional (7.5%) Occasional (29-5%) HP:0011073
13 behavioral abnormality 58 Very frequent (99-80%)
14 nail dystrophy 31 HP:0008404
15 opacification of the corneal stroma 31 HP:0007759
16 keratitis 31 HP:0000491
17 nail dysplasia 31 HP:0002164
18 poor wound healing 31 HP:0001058
19 anhidrosis 31 HP:0000970
20 lichenification 31 HP:0100725
21 hypotrichosis of the scalp 31 HP:0004782
22 recurrent corneal erosions 31 HP:0000495
23 corneal scarring 31 HP:0000559
24 corneal ulceration 31 HP:0012804
25 autoamputation of digits 31 HP:0007460
26 self-mutilation 31 HP:0000742
27 pain insensitivity 31 HP:0007021
28 postural hypotension with compensatory tachycardia 31 HP:0005307
29 decreased number of small peripheral myelinated nerve fibers 31 HP:0007249
30 recurrent fever 31 HP:0001954
31 acral ulceration 31 HP:0006121
32 neuropathic arthropathy 31 HP:0002821

Symptoms via clinical synopsis from OMIM:

56
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
Verapamil Approved Phase 1 52-53-9 2520
2
Lopinavir Approved Phase 1 192725-17-0 92727
3
chloroquine Approved, Investigational, Vet_approved Phase 1 54-05-7 2719
4
Ritonavir Approved, Investigational Phase 1 155213-67-5 392622
5
Diltiazem Approved, Investigational Phase 1 42399-41-7 39186
6
Ranolazine Approved, Investigational Phase 1 95635-55-5, 142387-99-3 56959
7
Dofetilide Approved, Investigational Phase 1 115256-11-6 71329
8
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
9 HIV Protease Inhibitors Phase 1
10 Anti-Arrhythmia Agents Phase 1
11 Antihypertensive Agents Phase 1
12 Cytochrome P-450 CYP3A Inhibitors Phase 1
13
protease inhibitors Phase 1
14 Anti-Inflammatory Agents Phase 1
15 Cytochrome P-450 Enzyme Inhibitors Phase 1
16 Potassium Channel Blockers Phase 1
17 Anti-Inflammatory Agents, Non-Steroidal Phase 1
18 Anti-Infective Agents Phase 1
19 Antiparasitic Agents Phase 1
20 Anti-Retroviral Agents Phase 1
21 Analgesics, Non-Narcotic Phase 1
22 Vasodilator Agents Phase 1
23 Antiprotozoal Agents Phase 1
24 Antiviral Agents Phase 1
25 Chloroquine diphosphate Phase 1 50-63-5
26 Antirheumatic Agents Phase 1
27 Antimalarials Phase 1
28 Sodium Channel Blockers Phase 1
29 Calcium, Dietary Phase 1
30 calcium channel blockers Phase 1
31 Anthelmintics Phase 1
32 Diuretics, Potassium Sparing Phase 1
33 Anti-HIV Agents Phase 1
34 Analgesics Phase 1
35 Hormones 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:

40
Bone, Skin, Tongue, Thyroid, Breast, Prostate, Neutrophil

Publications for Insensitivity to Pain, Congenital, with Anhidrosis

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

(show top 50) (show all 213)
# 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. 61 24 56 6
10861667 2000
2
Innate immunity. A Spaetzle-like role for nerve growth factor β in vertebrate immunity to Staphylococcus aureus. 56 6
25359976 2014
3
An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis. 61 24 56
12949319 2003
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. 61 24 6
11748840 2001
5
A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V. 61 24 6
11310631 2001
6
Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. 61 24 6
11159935 2001
7
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. 61 24 6
11071380 2000
8
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. 61 24 6
10982191 2000
9
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. 61 24 6
10330344 1999
10
Congenital insensitivity to pain with anhidrosis: ocular and systemic manifestations. 61 24 56
10088743 1999
11
Congenital insensitivity to pain with anhidrosis: lack of eccrine sweat gland innervation confirmed. 61 24 56
9620018 1998
12
Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. 61 24 56
8696348 1996
13
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. 24 6
12210794 2002
14
Congenital familial sensory neuropathy with anhidrosis. 24 56
4158991 1966
15
Congenital insensitivity to pain with anhydrosis. A unique syndrome in two male siblings. 24 56
13979626 1963
16
Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis. 61 56
19089473 2009
17
Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene. 61 6
19250380 2009
18
Congenital Insensitivity to Pain with Anhidrosis 61 6
20301726 2008
19
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis. 54 61 24
18077166 2008
20
The M581V mutation, associated with a mild form of congenital insensitivity to pain with anhidrosis, causes partial inactivation of the NTRK1 receptor. 61 6
12406349 2002
21
A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis. 61 6
10233776 1999
22
A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis. 61 6
10090906 1999
23
Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV) 61 56
7527213 1994
24
Congenital insensitivity to pain with anhidrosis in a 2-month-old boy. 61 56
6167904 1981
25
Eccrine sweat glands are not innervated in hereditary sensory neuropathy type IV. An electron-microscopic study. 61 56
6167137 1981
26
Congenital insensitivity to pain with anhidrosis. 61 56
6154886 1980
27
Congenital Insensitivity to Pain Overview 6
29419974 2018
28
Seeing is not always believing: congenital insensitivity to pain with anhidrosis mimicking leprosy. 61 24
24290131 2013
29
Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identified in the patient with congenital insensitivity to pain with anhidrosis. 61 24
23799134 2013
30
Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis. 61 24
22882139 2012
31
Congenital Insensitivity to Pain and Anhydrosis (CIPA) Syndrome; A Report of 4 Cases. 61 24
23400697 2012
32
Evaluation of nonnociceptive sensation in patients with congenital insensitivity to pain with anhidrosis. 61 52
20013280 2010
33
Assessment of cognitive and adaptive behaviour among individuals with congenital insensitivity to pain and anhidrosis. 61 24
20089052 2010
34
Ocular manifestations of congenital insensitivity to pain with anhidrosis. 61 24
16490492 2006
35
Orofacial manifestations of congenital insensitivity to pain with anhidrosis: a report of 24 cases. 61 24
12613315 2002
36
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. 61 24
12102460 2002
37
Neurophysiologic studies in congenital insensitivity to pain with anhidrosis. 61 24
11744315 2001
38
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency. 61 24
11668614 2001
39
Congenital insensitivity to pain with anhidrosis (CIPA): the spectrum of radiological findings. 61 24
11685437 2001
40
Cutaneous innervation in hereditary sensory and autonomic neuropathy type IV. 56
10891921 2000
41
Oral manifestations of hereditary sensory and autonomic neuropathy type IV. Congenital insensitivity to pain with anhidrosis. 61 24
9798226 1998
42
Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene. 56
8145823 1994
43
Congenital sensory neuropathy with anhidrosis. 56
3281596 1988
44
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. 6
3472625 1987
45
Congenital sensory neuropathy with skeletal dysplasia. 56
6573468 1983
46
Congenital insensitivity and naloxone. 56
79883 1978
47
Congenital sensory neuropathy with selective loss of small myelinated fibers. 6
77656 1978
48
Congenital sensory neuropathy with anhidrosis: a case report. 56
1250661 1976
49
Absence of taste in type II familial dysautonomia: unresponsiveness to methacholine despite the presence of taste buds. 56
5450270 1970
50
Congenital sensory neuropathy with anhidrosis. 56
4171106 1968

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 188) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NTRK1 NM_002529.3(NTRK1):c.717+4A>TSNV Pathogenic 161442 rs606231466 1:156838443-156838443 1:156868651-156868651
2 NTRK1 NM_002529.3(NTRK1):c.1550G>A (p.Gly517Glu)SNV Pathogenic 161443 rs606231467 1:156845920-156845920 1:156876128-156876128
3 NTRK1 NM_002529.3(NTRK1):c.1729G>C (p.Gly577Arg)SNV Pathogenic 12302 rs121964866 1:156846288-156846288 1:156876496-156876496
4 NTRK1 NM_002529.3(NTRK1):c.2339G>C (p.Arg780Pro)SNV Pathogenic 12303 rs35669708 1:156851382-156851382 1:156881590-156881590
5 NTRK1 NM_002529.3(NTRK1):c.25C>T (p.Gln9Ter)SNV Pathogenic 38360 rs80356673 1:156830751-156830751 1:156860959-156860959
6 NTRK1 NTRK1, IVS4, G-C, -1 AND ARG85SERSNV Pathogenic 12305
7 NTRK1 NTRK1, IVS7AS, T-A, -33SNV Pathogenic 12306
8 NTRK1 NM_002529.3(NTRK1):c.360-2A>CSNV Pathogenic 209177 rs797045059 1:156836700-156836700 1:156866908-156866908
9 NTRK1 NTRK1, 1-BP INS, 1926Tinsertion Pathogenic 12309
10 NTRK1 NM_002529.3(NTRK1):c.1759A>G (p.Met587Val)SNV Pathogenic 12312 rs121964870 1:156846318-156846318 1:156876526-156876526
11 NTRK1 NM_002529.3(NTRK1):c.1660del (p.Arg554fs)deletion Pathogenic 21305 rs80356675 1:156846219-156846219 1:156876427-156876427
12 NTRK1 NM_002529.3(NTRK1):c.1860_1861insT (p.Pro621fs)insertion Pathogenic 21306 rs80356676 1:156848968-156848969 1:156879176-156879177
13 NTRK1 NM_002529.3(NTRK1):c.2020G>T (p.Asp674Tyr)SNV Pathogenic 21307 rs80356677 1:156849128-156849128 1:156879336-156879336
14 NTRK1 NM_002529.3(NTRK1):c.851-33T>ASNV Pathogenic 21308 rs80356674 1:156843392-156843392 1:156873600-156873600
15 NTRK1 NM_002529.3(NTRK1):c.207_208del (p.Glu70fs)deletion Pathogenic 29920 rs398122810 1:156830933-156830934 1:156861141-156861142
16 NTRK1 NM_002529.3(NTRK1):c.1354+13_1634deldeletion Pathogenic 65491 1:156844810-156846190 1:156875018-156876398
17 NTRK1 NM_002529.3(NTRK1):c.526C>T (p.Gln176Ter)SNV Pathogenic 245651 rs879253889 1:156837993-156837993 1:156868201-156868201
18 NTRK1 NM_002529.3(NTRK1):c.638T>C (p.Leu213Pro)SNV Pathogenic 526734 rs747711259 1:156838360-156838360 1:156868568-156868568
19 NTRK1 NM_002529.3(NTRK1):c.424G>T (p.Glu142Ter)SNV Pathogenic 570317 rs370483210 1:156836766-156836766 1:156866974-156866974
20 NTRK1 NM_002529.3(NTRK1):c.1659del (p.Arg554fs)deletion Pathogenic 579700 rs1363364803 1:156846218-156846218 1:156876426-156876426
21 NTRK1 NM_002529.3(NTRK1):c.1310_1313dup (p.Leu439fs)duplication Pathogenic 578173 rs1558105252 1:156844755-156844756 1:156874963-156874964
22 NTRK1 NM_002529.3(NTRK1):c.396G>A (p.Trp132Ter)SNV Pathogenic 657340 1:156836738-156836738 1:156866946-156866946
23 NTRK1 NM_002529.3(NTRK1):c.538C>T (p.Gln180Ter)SNV Pathogenic 659393 1:156838005-156838005 1:156868213-156868213
24 NTRK1 NM_002529.3(NTRK1):c.1031_1043del (p.Gly344fs)deletion Pathogenic 649492 1:156843605-156843617 1:156873813-156873825
25 NTRK1 NM_002529.3(NTRK1):c.2303C>T (p.Pro768Leu)SNV Pathogenic 637485 1:156851346-156851346 1:156881554-156881554
26 NTRK1 NM_002529.3(NTRK1):c.543del (p.Leu183fs)deletion Pathogenic 637814 1:156838008-156838008 1:156868216-156868216
27 NTRK1 NM_001012331.1(NTRK1):c.575delGdeletion Pathogenic 648715 1:156838296-156838296 1:156868504-156868504
28 NTRK1 NM_002529.3(NTRK1):c.253C>A (p.Arg85Ser)SNV Pathogenic/Likely pathogenic 584593 rs543320028 1:156834186-156834186 1:156864394-156864394
29 NTRK1 NM_002529.3(NTRK1):c.1196-3_1196-1deldeletion Likely pathogenic 579788 rs1558104865 1:156844360-156844362 1:156874568-156874570
30 NTRK1 NM_002529.3(NTRK1):c.1196-1G>ASNV Likely pathogenic 553221 rs764171953 1:156844362-156844362 1:156874570-156874570
31 NTRK1 NM_002529.3(NTRK1):c.2046+1G>TSNV Likely pathogenic 456612 rs1452844753 1:156849155-156849155 1:156879363-156879363
32 NTRK1 NM_002529.3(NTRK1):c.2046+3A>CSNV Likely pathogenic 12301 rs914061514 1:156849157-156849157 1:156879365-156879365
33 NTRK1 NM_002529.3(NTRK1):c.2084C>T (p.Pro695Leu)SNV Likely pathogenic 12310 rs121964868 1:156849828-156849828 1:156880036-156880036
34 NTRK1 NM_002529.3(NTRK1):c.1040G>C (p.Arg347Pro)SNV Likely pathogenic 209178 rs797045060 1:156843614-156843614 1:156873822-156873822
35 NTRK1 NM_002529.3(NTRK1):c.354_359+3deldeletion Likely pathogenic 637368 1:156834585-156834593 1:156864793-156864801
36 NTRK1 NM_002529.3(NTRK1):c.16C>T (p.Arg6Trp)SNV Conflicting interpretations of pathogenicity 234386 rs201472270 1:156830742-156830742 1:156860950-156860950
37 NTRK1 NM_002529.3(NTRK1):c.1076A>G (p.Tyr359Cys)SNV Conflicting interpretations of pathogenicity 12311 rs121964869 1:156843650-156843650 1:156873858-156873858
38 NTRK1 NM_002529.3(NTRK1):c.1995G>A (p.Lys665=)SNV Conflicting interpretations of pathogenicity 292894 rs553270591 1:156849103-156849103 1:156879311-156879311
39 NTRK1 NM_002529.3(NTRK1):c.865C>A (p.Gln289Lys)SNV Conflicting interpretations of pathogenicity 245652 rs137979116 1:156843439-156843439 1:156873647-156873647
40 NTRK1 NM_002529.3(NTRK1):c.157G>C (p.Asp53His)SNV Conflicting interpretations of pathogenicity 292871 rs200815412 1:156830883-156830883 1:156861091-156861091
41 NTRK1 NM_002529.3(NTRK1):c.212+10C>TSNV Conflicting interpretations of pathogenicity 292872 rs183517027 1:156830948-156830948 1:156861156-156861156
42 NTRK1 NM_002529.3(NTRK1):c.2047-6T>CSNV Conflicting interpretations of pathogenicity 383251 rs762866535 1:156849785-156849785 1:156879993-156879993
43 NTRK1 NM_002529.3(NTRK1):c.375C>T (p.Asn125=)SNV Conflicting interpretations of pathogenicity 292875 rs757803799 1:156836717-156836717 1:156866925-156866925
44 NTRK1 NM_002529.3(NTRK1):c.509T>C (p.Val170Ala)SNV Conflicting interpretations of pathogenicity 292877 rs201503610 1:156837976-156837976 1:156868184-156868184
45 NTRK1 NM_002529.3(NTRK1):c.585G>A (p.Thr195=)SNV Conflicting interpretations of pathogenicity 292879 rs182531655 1:156838307-156838307 1:156868515-156868515
46 NTRK1 NM_002529.3(NTRK1):c.1236C>T (p.Asp412=)SNV Conflicting interpretations of pathogenicity 292884 rs147438950 1:156844403-156844403 1:156874611-156874611
47 NTRK1 NM_002529.3(NTRK1):c.1252-15C>GSNV Conflicting interpretations of pathogenicity 292885 rs186649954 1:156844683-156844683 1:156874891-156874891
48 NTRK1 NM_002529.3(NTRK1):c.428+12C>ASNV Conflicting interpretations of pathogenicity 292876 rs41267425 1:156836782-156836782 1:156866990-156866990
49 NTRK1 NM_002529.3(NTRK1):c.570C>G (p.Ser190Arg)SNV Conflicting interpretations of pathogenicity 292878 rs138608619 1:156838037-156838037 1:156868245-156868245
50 NTRK1 NM_002529.3(NTRK1):c.658C>T (p.Arg220Trp)SNV Conflicting interpretations of pathogenicity 292882 rs202030811 1:156838380-156838380 1:156868588-156868588

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

73 (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 9.4 NTRK1 BDNF
2 negative regulation of neuron apoptotic process GO:0043524 9.37 NTRK1 BDNF
3 positive regulation of neuron projection development GO:0010976 9.32 NTRK1 BDNF
4 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.26 NTRK1 BDNF
5 positive regulation of synapse assembly GO:0051965 9.16 NTRK1 BDNF
6 neurotrophin TRK receptor signaling pathway GO:0048011 8.96 NTRK1 BDNF
7 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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