MCID: ACR078
MIFTS: 14

Acral Self-Healing Collodion Baby

Categories: Eye diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Acral Self-Healing Collodion Baby

MalaCards integrated aliases for Acral Self-Healing Collodion Baby:

Name: Acral Self-Healing Collodion Baby 60
Acral Shcb 60

Characteristics:

Orphanet epidemiological data:

60
acral self-healing collodion baby
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q80.2
Orphanet 60 ORPHA281127

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 2 and ichthyosis, congenital, autosomal recessive 1. An important gene associated with Acral Self-Healing Collodion Baby is TGM1 (Transglutaminase 1). Affiliated tissues include skin and eye, and related phenotype is ichthyosis.

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 2 10.6
2 ichthyosis, congenital, autosomal recessive 1 10.6
3 ichthyosis, congenital, autosomal recessive 3 10.6
4 self-improving collodion baby 10.6

Symptoms & Phenotypes for Acral Self-Healing Collodion Baby

Human phenotypes related to Acral Self-Healing Collodion Baby:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 60 33 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:

42
Skin, Eye

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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