MCID: ACR078
MIFTS: 13

Acral Self-Healing Collodion Baby

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Acral Self-Healing Collodion Baby

MalaCards integrated aliases for Acral Self-Healing Collodion Baby:

Name: Acral Self-Healing Collodion Baby 55
Acral Shcb 55

Characteristics:

Orphanet epidemiological data:

55
acral self-healing collodion baby
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

Orphanet 55 ORPHA281127
ICD10 via Orphanet 33 Q80.2

Summaries for Acral Self-Healing Collodion Baby

MalaCards based summary : Acral Self-Healing Collodion Baby, also known as acral shcb, is related to ichthyosis, congenital, autosomal recessive 3 and self-improving collodion baby, 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

Diseases related to Acral Self-Healing Collodion Baby via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 3 10.5
2 self-improving collodion baby 10.5
3 ichthyosis, congenital, autosomal recessive 2 10.5
4 ichthyosis, congenital, autosomal recessive 1 10.5

Symptoms & Phenotypes for Acral Self-Healing Collodion Baby

Human phenotypes related to Acral Self-Healing Collodion Baby:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 55 31 hallmark (90%) 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:

38
Skin

Publications for Acral Self-Healing Collodion Baby

Articles related to Acral Self-Healing Collodion Baby:

# Title Authors Year
1
Acral self-healing collodion baby. ( 28735267 )
2017
2
Acral self-healing collodion baby: A case series. ( 28492026 )
2016
3
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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