MCID: INS029
MIFTS: 10

Insensitivity to Pain with Hyperplastic Myelinopathy

Aliases & Classifications for Insensitivity to Pain with Hyperplastic Myelinopathy

MalaCards integrated aliases for Insensitivity to Pain with Hyperplastic Myelinopathy:

Name: Insensitivity to Pain with Hyperplastic Myelinopathy 56 29

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
insensitivity to pain with hyperplastic myelinopathy:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 56 147530
MedGen 41 C1840172
SNOMED-CT via HPO 68 263681008 38433004

Summaries for Insensitivity to Pain with Hyperplastic Myelinopathy

MalaCards based summary : Insensitivity to Pain with Hyperplastic Myelinopathy is related to marsili syndrome and pain sensitivity quantitative trait locus 1. Related phenotypes are abnormal peripheral myelination and impaired tactile sensation

More information from OMIM: 147530

Related Diseases for Insensitivity to Pain with Hyperplastic Myelinopathy

Diseases related to Insensitivity to Pain with Hyperplastic Myelinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 marsili syndrome 10.3
2 pain sensitivity quantitative trait locus 1 10.3

Symptoms & Phenotypes for Insensitivity to Pain with Hyperplastic Myelinopathy

Human phenotypes related to Insensitivity to Pain with Hyperplastic Myelinopathy:

31
# Description HPO Frequency HPO Source Accession
1 abnormal peripheral myelination 31 HP:0003130
2 impaired tactile sensation 31 HP:0010830
3 pain insensitivity 31 HP:0007021

Symptoms via clinical synopsis from OMIM:

56
Neuro:
pain insensitivity
inability to distinguish hot and cold, sharp and dull

Lab:
hyperplastic myelinopathy
normal unmyelinated c fibers
medium-sized and large-sized myelinated fibers involved
absent flare on intradermal injection of histamine

Clinical features from OMIM:

147530

Drugs & Therapeutics for Insensitivity to Pain with Hyperplastic Myelinopathy

Search Clinical Trials , NIH Clinical Center for Insensitivity to Pain with Hyperplastic Myelinopathy

Genetic Tests for Insensitivity to Pain with Hyperplastic Myelinopathy

Genetic tests related to Insensitivity to Pain with Hyperplastic Myelinopathy:

# Genetic test Affiliating Genes
1 Insensitivity to Pain with Hyperplastic Myelinopathy 29

Anatomical Context for Insensitivity to Pain with Hyperplastic Myelinopathy

Publications for Insensitivity to Pain with Hyperplastic Myelinopathy

Articles related to Insensitivity to Pain with Hyperplastic Myelinopathy:

# Title Authors PMID Year
1
Autosomal dominant insensitivity to pain with hyperplastic myelinopathy and autosomal dominant indifference to pain. 61 56
4136553 1974

Variations for Insensitivity to Pain with Hyperplastic Myelinopathy

Expression for Insensitivity to Pain with Hyperplastic Myelinopathy

Search GEO for disease gene expression data for Insensitivity to Pain with Hyperplastic Myelinopathy.

Pathways for Insensitivity to Pain with Hyperplastic Myelinopathy

GO Terms for Insensitivity to Pain with Hyperplastic Myelinopathy

Sources for Insensitivity to Pain with Hyperplastic Myelinopathy

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
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