MCID: ACR078

Acral Self-Healing Collodion Baby malady

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Acral Self-Healing Collodion Baby

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Sources:
30ICD10 via Orphanet, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for Acral Self-Healing Collodion Baby:

Name: Acral Self-Healing Collodion Baby 53
 
Acral Shcb 53

Characteristics:

Orphanet epidemiological data:

53
acral self-healing collodion baby:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:

Orphanet: 53 
Rare skin diseases


External Ids:

Orphanet53 ORPHA281127
ICD10 via Orphanet30 Q80.2

Summaries for Acral Self-Healing Collodion Baby

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MalaCards based summary: Acral Self-Healing Collodion Baby, is also known as acral shcb, and has symptoms including ichthyosis and Array. 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

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Symptoms for Acral Self-Healing Collodion Baby

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Human phenotypes related to Acral Self-Healing Collodion Baby:

 63 53
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis63 53 hallmark (90%) Very frequent (99-80%) HP:0008064

Drugs & Therapeutics for Acral Self-Healing Collodion Baby

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Interventional clinical trials:

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

Genetic Tests for Acral Self-Healing Collodion Baby

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Anatomical Context for Acral Self-Healing Collodion Baby

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

35
Skin

Animal Models for Acral Self-Healing Collodion Baby or affiliated genes

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Publications for Acral Self-Healing Collodion Baby

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Articles related to Acral Self-Healing Collodion Baby:

idTitleAuthorsYear
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

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Expression for genes affiliated with Acral Self-Healing Collodion Baby

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

Pathways for genes affiliated with Acral Self-Healing Collodion Baby

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GO Terms for genes affiliated with Acral Self-Healing Collodion Baby

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Sources for Acral Self-Healing Collodion Baby

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet