NTRK1, IVS4, G-C, -1 AND ARG85SER AND Hereditary insensitivity to pain with anhidrosis

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2001)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013098.19

Allele description [Variation Report for NTRK1, IVS4, G-C, -1 AND ARG85SER]

NTRK1, IVS4, G-C, -1 AND ARG85SER

Gene:
NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21-q22
Preferred name:
NTRK1, IVS4, G-C, -1 AND ARG85SER
Other names:
NTRK1, IVS4, G-C, -1 AND ARG85SER
HGVS:
    Protein change:
    R85S; ARG85SER
    Links:
    OMIM: 191315.0006

    Condition(s)

    Name:
    Hereditary insensitivity to pain with anhidrosis (CIPA)
    Synonyms:
    FAMILIAL DYSAUTONOMIA, TYPE II; Insensitivity to pain, congenital, with anhidrosis; Neuropathy, congenital sensory, with anhidrosis; See all synonyms [MedGen]
    Identifiers:
    MONDO: MONDO:0009746; MedGen: C0020074; Orphanet: 642; OMIM: 256800

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000033345OMIMno assertion criteria providedPathogenic
    (Feb 1, 2001)
    germlineliterature only

    PubMed (2)
    [See all records that cite these PMIDs]

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

    Citations

    PubMed

    Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.

    Mardy S, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.

    Am J Hum Genet. 1999 Jun;64(6):1570-9.

    PubMed [citation]
    PMID:
    10330344
    PMCID:
    PMC1377900

    Details of each submission

    From OMIM, SCV000033345.3

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (2)

    Description

    In a male patient with congenital insensitivity to pain with anhidrosis (CIPA; 256800) from the United Arab Emirates, Mardy et al. (1999) found homozygosity for a double mutation in the NTRK1 gene: a G-to-C transversion in the first position of exon 4 (IVS4-1G-C), and a C-to-A transversion at nucleotide 337 in exon 2 causing an arg85-to-ser (R85S) substitution. The latter mutation was later determined to have no effect on autophosphorylation of NTRK1 (Mardy et al., 2001), and is thus likely to be a polymorphism in this population.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Apr 17, 2020

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