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:
52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Acral Self-Healing Collodion Baby:

Name: Acral Self-Healing Collodion Baby 52
 
Acral Shcb 52

Characteristics:

Orphanet epidemiological data:

52
acral self-healing collodion baby:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:

Orphanet: 52 
Rare skin diseases


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Orphanet52 ORPHA281127
ICD10 via Orphanet29 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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Symptoms:

 52
  • ichthyosis

HPO human phenotypes related to Acral Self-Healing Collodion Baby:

id Description Frequency HPO Source Accession
1 ichthyosis hallmark (90%) 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:

34
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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet