SHCB
MCID: SLF015
MIFTS: 27

Self-Improving Collodion Baby (SHCB)

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

Aliases & Classifications for Self-Improving Collodion Baby

MalaCards integrated aliases for Self-Improving Collodion Baby:

Name: Self-Improving Collodion Baby 60
Self-Healing Collodion Baby 60 74
Self-Improving Congenital Ichthyosis 60
Shcb 60
Sici 60

Characteristics:

Orphanet epidemiological data:

60
self-improving collodion baby
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q80.2
UMLS via Orphanet 75 C1855789
Orphanet 60 ORPHA281122
UMLS 74 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 2 and ichthyosis, congenital, autosomal recessive 1. 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 eye, and related phenotypes are ichthyosis and limitation of joint mobility

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:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008064
2 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001376

MGI Mouse Phenotypes related to Self-Improving Collodion Baby:

47
# 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:

42
Skin, Eye

Publications for Self-Improving Collodion Baby

Articles related to Self-Improving Collodion Baby:

(show all 12)
# 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
Self-healing Collodion Baby: A New Mutation in the ALOX12B Gene. ( 26922124 )
2016
5
Scanning electron microscopy of the collodion membrane from a self-healing collodion baby. ( 26375232 )
2015
6
Novel TGM1 Missense Mutation p.Arg727Gln in a Case of Self-healing Collodion Baby. ( 24419105 )
2014
7
Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis. ( 19863506 )
2010
8
Self-healing collodion baby. ( 20334876 )
2010
9
Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. ( 19500103 )
2009
10
Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. ( 12542526 )
2003
11
Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma. ( 10508988 )
1999
12
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 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
Content
Loading form....