MCID: ACR078
MIFTS: 17

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 58
Acral Shcb 58

Characteristics:

Orphanet epidemiological data:

58
acral self-healing collodion baby
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q80.2
Orphanet 58 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 3 and self-improving collodion baby. An important gene associated with Acral Self-Healing Collodion Baby is TGM1 (Transglutaminase 1). Affiliated tissues include skin and eye, and related phenotypes are erythema and lack of skin elasticity

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 10.6
2 self-improving collodion baby 10.6
3 ichthyosis 10.5
4 ichthyosis, congenital, autosomal recessive 1 10.4
5 autosomal recessive congenital ichthyosis 10.4

Graphical network of the top 20 diseases related to Acral Self-Healing Collodion Baby:



Diseases related to Acral Self-Healing Collodion Baby

Symptoms & Phenotypes for Acral Self-Healing Collodion Baby

Human phenotypes related to Acral Self-Healing Collodion Baby:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
2 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100679
3 edema of the dorsum of hands 58 31 hallmark (90%) Very frequent (99-80%) HP:0007514
4 localized epidermolytic hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007559
5 edema of the dorsum of feet 58 31 hallmark (90%) Very frequent (99-80%) HP:0012098
6 palmoplantar scaling skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0025524

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:

40
Skin, Eye

Publications for Acral Self-Healing Collodion Baby

Articles related to Acral Self-Healing Collodion Baby:

# Title Authors PMID Year
1
Acral self-healing collodion baby. 61
28735267 2017
2
Acral self-healing collodion baby: A case series. 61
28492026 2016
3
Inherited ichthyosis: Non-syndromic forms. 61
26945532 2016
4
Autosomal recessive congenital ichthyosis. 61
23562412 2013
5
Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. 61
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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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