MCID: ACR078

Acral Self-Healing Collodion Baby malady

Skin diseases, Rare diseases categories
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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/ichthyosiform dermatitis An important gene associated with Acral Self-Healing Collodion Baby is TGM1 (transglutaminase 1). Affiliated tissues include skin.

Aliases & Classifications for Acral Self-Healing Collodion Baby

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Sources:
48Orphanet, 26ICD10 via Orphanet
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Acral Self-Healing Collodion Baby, Aliases & Descriptions:

Name: Acral Self-Healing Collodion Baby 48
 
Acral Shcb 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases
Orphanet: 48 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

48
acral self-healing collodion baby:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

ICD10 via Orphanet26 Q80.2

Related Diseases for Acral Self-Healing Collodion Baby

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Symptoms for Acral Self-Healing Collodion Baby

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Symptoms:

48
  • ichthyosis/ichthyosiform dermatitis

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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Drug clinical trials:

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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:

32
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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Expression patterns in normal tissues for genes affiliated with Acral Self-Healing Collodion Baby

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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Compounds 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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Products for genes affiliated with Acral Self-Healing Collodion Baby

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  • Antibodies
  • Proteins
  • Lysates

Sources for Acral Self-Healing Collodion Baby

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet