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:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Acral Self-Healing Collodion Baby:

Name: Acral Self-Healing Collodion Baby 54
 
Acral Shcb 54

Characteristics:

Orphanet epidemiological data:

54
acral self-healing collodion baby:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

Orphanet54 ORPHA281127
ICD10 via Orphanet31 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 Array and 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

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Symptoms & Phenotypes for Acral Self-Healing Collodion Baby

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Human phenotypes related to Acral Self-Healing Collodion Baby:

 54 64
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis64 54 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:

36
Skin

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet