MCID: SLF015
MIFTS: 25

Self-Improving Collodion Baby

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Self-Improving Collodion Baby

MalaCards integrated aliases for Self-Improving Collodion Baby:

Name: Self-Improving Collodion Baby 59
Self-Healing Collodion Baby 59 73
Self-Improving Congenital Ichthyosis 59
Shcb 59
Sici 59

Characteristics:

Orphanet epidemiological data:

59
self-improving collodion baby
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 ORPHA281122
ICD10 via Orphanet 34 Q80.2
UMLS via Orphanet 74 C1855789
UMLS 73 C1855789

Summaries for Self-Improving Collodion Baby

MalaCards based summary : Self-Improving Collodion Baby, also known as self-healing collodion baby, is related to ichthyosis, congenital, autosomal recessive 1 and acral self-healing collodion baby. An important gene associated with Self-Improving Collodion Baby is TGM1 (Transglutaminase 1), and among its related pathways/superpathways is Prostaglandin 2 biosynthesis and metabolism FM. Affiliated tissues include skin, and related phenotypes are limitation of joint mobility and ichthyosis

Related Diseases for Self-Improving Collodion Baby

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



Diseases related to Self-Improving Collodion Baby

Symptoms & Phenotypes for Self-Improving Collodion Baby

Human phenotypes related to Self-Improving Collodion Baby:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
2 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064

MGI Mouse Phenotypes related to Self-Improving Collodion Baby:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.8 ALOX12B ALOXE3 TGM1

Drugs & Therapeutics for Self-Improving Collodion Baby

Search Clinical Trials , NIH Clinical Center for Self-Improving Collodion Baby

Genetic Tests for Self-Improving Collodion Baby

Anatomical Context for Self-Improving Collodion Baby

MalaCards organs/tissues related to Self-Improving Collodion Baby:

41
Skin

Publications for Self-Improving Collodion Baby

Articles related to Self-Improving Collodion Baby:

# Title Authors Year
1
Acral self-healing collodion baby. ( 28735267 )
2017
2
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. ( 26646773 )
2016
3
Acral self-healing collodion baby: A case series. ( 28492026 )
2016
4
Novel TGM1 Missense Mutation p.Arg727Gln in a Case of Self-healing Collodion Baby. ( 24419105 )
2014
5
Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis. ( 19863506 )
2010
6
Self-healing collodion baby. ( 20334876 )
2010
7
Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. ( 19500103 )
2009
8
Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. ( 12542526 )
2003
9
Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma. ( 10508988 )
1999
10
Self-healing collodion baby: evidence for autosomal recessive inheritance. ( 1603745 )
1992

Variations for Self-Improving Collodion Baby

Expression for Self-Improving Collodion Baby

Search GEO for disease gene expression data for Self-Improving Collodion Baby.

Pathways for Self-Improving Collodion Baby

Pathways related to Self-Improving Collodion Baby according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.98 ALOX12B ALOXE3

GO Terms for Self-Improving Collodion Baby

Biological processes related to Self-Improving Collodion Baby according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.46 ALOX12B ALOXE3
2 fatty acid metabolic process GO:0006631 9.43 ALOX12B ALOXE3
3 sphingolipid metabolic process GO:0006665 9.4 ALOX12B ALOXE3
4 ceramide biosynthetic process GO:0046513 9.37 ALOX12B ALOXE3
5 arachidonic acid metabolic process GO:0019369 9.32 ALOX12B ALOXE3
6 establishment of skin barrier GO:0061436 9.26 ALOX12B ALOXE3
7 linoleic acid metabolic process GO:0043651 9.16 ALOX12B ALOXE3
8 lipoxygenase pathway GO:0019372 8.96 ALOX12B ALOXE3
9 hepoxilin biosynthetic process GO:0051122 8.62 ALOX12B ALOXE3

Molecular functions related to Self-Improving Collodion Baby according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.16 ALOX12B ALOXE3
2 dioxygenase activity GO:0051213 8.96 ALOX12B ALOXE3
3 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 8.62 ALOX12B ALOXE3

Sources for Self-Improving Collodion Baby

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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