MCID: INS029
MIFTS: 7

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 58 30

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
insensitivity to pain with hyperplastic myelinopathy:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 58 147530
MedGen 43 C1840172
SNOMED-CT via HPO 70 263681008 38433004

Summaries for Insensitivity to Pain with Hyperplastic Myelinopathy

MalaCards based summary : Insensitivity to Pain with Hyperplastic Myelinopathy Related phenotypes are abnormal peripheral myelination and impaired tactile sensation

Description from OMIM: 147530

Related Diseases for Insensitivity to Pain with Hyperplastic Myelinopathy

Symptoms & Phenotypes for Insensitivity to Pain with Hyperplastic Myelinopathy

Human phenotypes related to Insensitivity to Pain with Hyperplastic Myelinopathy:

33
# Description HPO Frequency HPO Source Accession
1 abnormal peripheral myelination 33 HP:0003130
2 impaired tactile sensation 33 HP:0010830
3 pain insensitivity 33 HP:0007021

Symptoms via clinical synopsis from OMIM:

58
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 30

Anatomical Context for Insensitivity to Pain with Hyperplastic Myelinopathy

Publications for Insensitivity to Pain with Hyperplastic Myelinopathy

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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