MCID: ACR078
MIFTS: 15

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 59
Acral Shcb 59

Characteristics:

Orphanet epidemiological data:

59
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 34 Q80.2
Orphanet 59 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 ichthyosis and erythema

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:

32 59 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 32 hallmark (90%) HP:0008064
2 erythema 59 Very frequent (99-80%)
3 lack of skin elasticity 59 Very frequent (99-80%)
4 edema of the dorsum of hands 59 Very frequent (99-80%)
5 localized epidermolytic hyperkeratosis 59 Very frequent (99-80%)
6 edema of the dorsum of feet 59 Very frequent (99-80%)
7 palmoplantar scaling skin 59 Very frequent (99-80%)

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:

41
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. 38
28735267 2017
2
Acral self-healing collodion baby: A case series. 38
28492026 2016
3
Inherited ichthyosis: Non-syndromic forms. 38
26945532 2016
4
Autosomal recessive congenital ichthyosis. 38
23562412 2013
5
Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. 38
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....