MCID: NTR055
MIFTS: 12

Ntrk1 Congenital Insensitivity to Pain with Anhidrosis

Categories: Neuronal diseases

Aliases & Classifications for Ntrk1 Congenital Insensitivity to Pain with Anhidrosis

MalaCards integrated aliases for Ntrk1 Congenital Insensitivity to Pain with Anhidrosis:

Name: Ntrk1 Congenital Insensitivity to Pain with Anhidrosis 24
Hereditary Sensory Autonomic Neuropathy Type Iv 24
Hsan Iv 24

Classifications:



Summaries for Ntrk1 Congenital Insensitivity to Pain with Anhidrosis

MalaCards based summary : Ntrk1 Congenital Insensitivity to Pain with Anhidrosis, also known as hereditary sensory autonomic neuropathy type iv, is related to keratitis, hereditary and insensitivity to pain, congenital, with anhidrosis. An important gene associated with Ntrk1 Congenital Insensitivity to Pain with Anhidrosis is NTRK1 (Neurotrophic Receptor Tyrosine Kinase 1). Affiliated tissues include skin.

GeneReviews: NBK1769

Related Diseases for Ntrk1 Congenital Insensitivity to Pain with Anhidrosis

Diseases related to Ntrk1 Congenital Insensitivity to Pain with Anhidrosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 keratitis, hereditary 10.4
2 insensitivity to pain, congenital, with anhidrosis 10.4
3 alacrima, achalasia, and mental retardation syndrome 10.4
4 pain sensitivity quantitative trait locus 1 10.4
5 anhidrosis 10.4
6 keratosis 10.4
7 pseudobulbar affect 10.4
8 neurotrophic keratopathy 10.4
9 autonomic neuropathy 10.3
10 hereditary sensory neuropathy 10.2
11 autosomal recessive disease 10.2
12 neuropathy 10.2
13 gitelman syndrome 10.1
14 wilson disease 10.1
15 cardiac arrest 10.1
16 acute pancreatitis 10.1
17 dysphagia 10.1
18 disorder of copper metabolism 10.1

Graphical network of the top 20 diseases related to Ntrk1 Congenital Insensitivity to Pain with Anhidrosis:



Diseases related to Ntrk1 Congenital Insensitivity to Pain with Anhidrosis

Symptoms & Phenotypes for Ntrk1 Congenital Insensitivity to Pain with Anhidrosis

Drugs & Therapeutics for Ntrk1 Congenital Insensitivity to Pain with Anhidrosis

Search Clinical Trials , NIH Clinical Center for Ntrk1 Congenital Insensitivity to Pain with Anhidrosis

Genetic Tests for Ntrk1 Congenital Insensitivity to Pain with Anhidrosis

Anatomical Context for Ntrk1 Congenital Insensitivity to Pain with Anhidrosis

MalaCards organs/tissues related to Ntrk1 Congenital Insensitivity to Pain with Anhidrosis:

40
Skin

Publications for Ntrk1 Congenital Insensitivity to Pain with Anhidrosis

Articles related to Ntrk1 Congenital Insensitivity to Pain with Anhidrosis:

(show top 50) (show all 68)
# Title Authors PMID Year
1
Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy. 61 24
27184211 2016
2
Hereditary sensory and autonomic neuropathy type IV and orthopaedic complications. 61 24
24070693 2013
3
Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population. 61 24
18322713 2008
4
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis. 61 24
18077166 2008
5
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
6
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. 24 61
11748840 2001
7
Heterogeneity of clinical features and mutation analysis of NTRK1 in Han Chinese patients with congenital insensitivity to pain with anhidrosis. 24
30774415 2019
8
Congenital Loss of Permanent Teeth in a Patient With Congenital Insensitivity to Pain With Anhidrosis due to 2 Novel Mutations in the NTRK1 Gene. 24
30075136 2018
9
NGF-dependent neurons and neurobiology of emotions and feelings: Lessons from congenital insensitivity to pain with anhidrosis. 24
29407522 2018
10
Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. 24
29770739 2018
11
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
12
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
13
Hereditary sensory and autonomic neuropathy types IV and V in Japan. 24
25422087 2015
14
Neurobiology of pain, interoception and emotional response: lessons from nerve growth factor-dependent neurons. 24
24494678 2014
15
Seeing is not always believing: congenital insensitivity to pain with anhidrosis mimicking leprosy. 24
24290131 2013
16
Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis. 24
22882139 2012
17
Congenital Insensitivity to Pain and Anhydrosis (CIPA) Syndrome; A Report of 4 Cases. 24
23400697 2012
18
A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy. 24
20978020 2011
19
Nerve growth factor, pain, itch and inflammation: lessons from congenital insensitivity to pain with anhidrosis. 24
20977328 2010
20
Assessment of cognitive and adaptive behaviour among individuals with congenital insensitivity to pain and anhidrosis. 24
20089052 2010
21
Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis. 24
19618435 2009
22
In vivo confocal microscopy of hereditary sensory and autonomic neuropathy. 24
19085376 2008
23
Ocular manifestations of congenital insensitivity to pain with anhidrosis. 24
16490492 2006
24
An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis. 24
12949319 2003
25
Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs. 24
12102459 2002
26
Congenital insensitivity to pain. Orthopaedic manifestations. 24
11922368 2002
27
Neurophysiologic studies in congenital insensitivity to pain with anhidrosis. 24
11744315 2001
28
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. 24
11668614 2001
29
Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. 24
11159935 2001
30
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. 24
11071380 2000
31
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. 24
10861667 2000
32
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. 24
10982191 2000
33
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. 24
10330344 1999
34
Congenital insensitivity to pain with anhidrosis: ocular and systemic manifestations. 24
10088743 1999
35
Oral manifestations of hereditary sensory and autonomic neuropathy type IV. Congenital insensitivity to pain with anhidrosis. 24
9798226 1998
36
Congenital insensitivity to pain with anhidrosis: lack of eccrine sweat gland innervation confirmed. 24
9620018 1998
37
Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. 24
8696348 1996
38
Molecular genetic analysis in 21 Chinese families with congenital insensitivity to pain with or without anhidrosis. 61
32219930 2020
39
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation. 61
30677517 2020
40
A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV). 61
31741675 2019
41
Wilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome. 61
31338315 2019
42
Office-Based Anesthetic and Oral Surgical Management of a Child With Hereditary Sensory Autonomic Neuropathy Type IV: A Case Report. 61
30235436 2018
43
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype. 61
28328124 2017
44
A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV). 61
27676246 2017
45
Congenital insensitivity to pain with anhidrosis in Sudanese children. 61
28096563 2016
46
Hereditary sensory and autosomal peripheral neuropathy-type IV: case series and review of literature. 61
25744033 2015
47
Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation. 61
24631696 2014
48
From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V. 61
24494679 2014
49
Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan. 61
23495212 2013
50
Congenital insensitivity to pain with anhidrosis in an Iranian patient. 61
25337332 2013

Variations for Ntrk1 Congenital Insensitivity to Pain with Anhidrosis

Expression for Ntrk1 Congenital Insensitivity to Pain with Anhidrosis

Search GEO for disease gene expression data for Ntrk1 Congenital Insensitivity to Pain with Anhidrosis.

Pathways for Ntrk1 Congenital Insensitivity to Pain with Anhidrosis

GO Terms for Ntrk1 Congenital Insensitivity to Pain with Anhidrosis

Sources for Ntrk1 Congenital Insensitivity to Pain 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
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....