MCID: CNG472
MIFTS: 6

Congenital Insensitivity to Pain with Severe Intellectual Disability

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Insensitivity to Pain with Severe Intellectual...

MalaCards integrated aliases for Congenital Insensitivity to Pain with Severe Intellectual Disability:

Name: Congenital Insensitivity to Pain with Severe Intellectual Disability 60
Congenital Insensitivity to Pain with Severe Non-Progressive Cognitive Delay 60
Congenital Insensitivity to Pain with Preserved Temperature Sensation 60
Congenital Absence of Pain with Severe Intellectual Disability 60
Congenital Analgesia with Severe Intellectual Disability 60

Characteristics:

Orphanet epidemiological data:

60
congenital insensitivity to pain with severe intellectual disability
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Orphanet 60 ORPHA453510

Summaries for Congenital Insensitivity to Pain with Severe Intellectual...

MalaCards based summary : Congenital Insensitivity to Pain with Severe Intellectual Disability, is also known as congenital insensitivity to pain with severe non-progressive cognitive delay. An important gene associated with Congenital Insensitivity to Pain with Severe Intellectual Disability is CLTCL1 (Clathrin Heavy Chain Like 1).

Related Diseases for Congenital Insensitivity to Pain with Severe Intellectual...

Symptoms & Phenotypes for Congenital Insensitivity to Pain with Severe Intellectual...

Drugs & Therapeutics for Congenital Insensitivity to Pain with Severe Intellectual...

Search Clinical Trials , NIH Clinical Center for Congenital Insensitivity to Pain with Severe Intellectual Disability

Genetic Tests for Congenital Insensitivity to Pain with Severe Intellectual...

Anatomical Context for Congenital Insensitivity to Pain with Severe Intellectual...

Publications for Congenital Insensitivity to Pain with Severe Intellectual...

Variations for Congenital Insensitivity to Pain with Severe Intellectual...

Expression for Congenital Insensitivity to Pain with Severe Intellectual...

Search GEO for disease gene expression data for Congenital Insensitivity to Pain with Severe Intellectual Disability.

Pathways for Congenital Insensitivity to Pain with Severe Intellectual...

GO Terms for Congenital Insensitivity to Pain with Severe Intellectual...

Sources for Congenital Insensitivity to Pain with Severe Intellectual...

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
Content
Loading form....