MCID: CNG472
MIFTS: 14

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 58
Congenital Insensitivity to Pain with Severe Non-Progressive Cognitive Delay 58
Congenital Insensitivity to Pain with Preserved Temperature Sensation 58
Congenital Absence of Pain with Severe Intellectual Disability 58
Congenital Analgesia with Severe Intellectual Disability 58

Characteristics:

Orphanet epidemiological data:

58
congenital insensitivity to pain with severe intellectual disability
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Rare neurological diseases


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 phenotypes are strabismus and specific learning disability

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

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

Human phenotypes related to Congenital Insensitivity to Pain with Severe Intellectual Disability:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
2 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
3 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
4 osteomyelitis 58 31 frequent (33%) Frequent (79-30%) HP:0002754
5 keratitis 58 31 frequent (33%) Frequent (79-30%) HP:0000491
6 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
7 self-mutilation 58 31 frequent (33%) Frequent (79-30%) HP:0000742
8 pain insensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0007021
9 decreased corneal reflex 58 31 frequent (33%) Frequent (79-30%) HP:0008000
10 delayed cns myelination 58 31 frequent (33%) Frequent (79-30%) HP:0002188
11 impaired tactile sensation 58 31 frequent (33%) Frequent (79-30%) HP:0010830
12 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
13 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
14 corneal erosion 58 31 occasional (7.5%) Occasional (29-5%) HP:0200020
15 oligohydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001562
16 rocker bottom foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001838
17 prominent nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000448
18 small for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001518
19 limb undergrowth 58 31 occasional (7.5%) Occasional (29-5%) HP:0009826
20 short palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0012745
21 tibial bowing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002982
22 talipes equinovalgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001772
23 congenital bilateral hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008780
24 multifocal epileptiform discharges 58 31 occasional (7.5%) Occasional (29-5%) HP:0010841
25 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
26 nasogastric tube feeding in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011470
27 seesaw nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0012044
28 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
29 abnormal facial shape 58 Occasional (29-5%)
30 generalized tonic-clonic seizures 58 Occasional (29-5%)

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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