MCID: ACR078
MIFTS: 8

Acral Self-Healing Collodion Baby malady

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Acral Self-Healing Collodion Baby

Aliases & Descriptions for Acral Self-Healing Collodion Baby:

Name: Acral Self-Healing Collodion Baby 56
Acral Shcb 56

Characteristics:

Orphanet epidemiological data:

56
acral self-healing collodion baby
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

Orphanet 56 ORPHA281127
ICD10 via Orphanet 34 Q80.2

Summaries for Acral Self-Healing Collodion Baby

MalaCards based summary : Acral Self-Healing Collodion Baby, is also known as acral shcb, and has symptoms including ichthyosis An important gene associated with Acral Self-Healing Collodion Baby is TGM1 (Transglutaminase 1). Affiliated tissues include skin.

Related Diseases for Acral Self-Healing Collodion Baby

Symptoms & Phenotypes for Acral Self-Healing Collodion Baby

Human phenotypes related to Acral Self-Healing Collodion Baby:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 56 32 Very frequent (99-80%) HP:0008064

Drugs & Therapeutics for Acral Self-Healing Collodion Baby

Search Clinical Trials , NIH Clinical Center for Acral Self-Healing Collodion Baby

Genetic Tests for Acral Self-Healing Collodion Baby

Anatomical Context for Acral Self-Healing Collodion Baby

MalaCards organs/tissues related to Acral Self-Healing Collodion Baby:

39
Skin

Publications for Acral Self-Healing Collodion Baby

Articles related to Acral Self-Healing Collodion Baby:

id Title Authors Year
1
Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. ( 19500103 )
2009

Variations for Acral Self-Healing Collodion Baby

Expression for Acral Self-Healing Collodion Baby

Search GEO for disease gene expression data for Acral Self-Healing Collodion Baby.

Pathways for Acral Self-Healing Collodion Baby

GO Terms for Acral Self-Healing Collodion Baby

Sources for Acral Self-Healing Collodion Baby

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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