SHCB
MCID: SLF015
MIFTS: 34

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 58
Self-Healing Collodion Baby 58 70
Self-Improving Congenital Ichthyosis 58
Shcb 58
Sici 58

Characteristics:

Orphanet epidemiological data:

58
self-improving collodion baby
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

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


External Ids:

ICD10 via Orphanet 33 Q80.2
UMLS via Orphanet 71 C1855789
Orphanet 58 ORPHA281122
UMLS 70 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 ALOX12B (Arachidonate 12-Lipoxygenase, 12R Type), and among its related pathways/superpathways is Prostaglandin 2 biosynthesis and metabolism FM. The drugs Orange and GABA Modulators have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are ichthyosis and limitation of joint mobility

Related Diseases for Self-Improving Collodion Baby

Diseases related to Self-Improving Collodion Baby via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 2 31.4 SULT2B1 ALOXE3 ALOX12B
2 ichthyosis, congenital, autosomal recessive 1 30.6 TGM1 SULT2B1 ALOXE3 ALOX12B
3 ichthyosis lamellar 1 29.9 TGM1 SULT2B1
4 ichthyosis 29.6 TGM1 SULT2B1 ALOXE3 ALOX12B
5 autosomal recessive congenital ichthyosis 29.4 TGM1 SULT2B1 ALOXE3 ALOX12B
6 ichthyosis, congenital, autosomal recessive 3 11.6
7 acral self-healing collodion baby 11.0
8 hypertelorism 10.2
9 dowling-degos disease 1 10.2
10 chromosome 2q35 duplication syndrome 10.2
11 brachydactyly 10.2
12 keratosis 10.2
13 skin atrophy 10.2
14 alopecia 10.2
15 aortic valve disease 1 10.0
16 peripheral vascular disease 10.0
17 autosomal recessive cerebellar ataxia 10.0
18 atrial fibrillation 10.0
19 coronary stenosis 10.0
20 arteries, anomalies of 9.9
21 atrial standstill 1 9.9
22 hypercholesterolemia, familial, 1 9.9
23 aortic valve disease 2 9.9
24 lipoprotein quantitative trait locus 9.9
25 patent foramen ovale 9.9
26 vascular disease 9.9
27 ischemia 9.9
28 intermediate coronary syndrome 9.9
29 pulmonary embolism 9.9
30 cardiogenic shock 9.9
31 acrokeratosis verruciformis 9.9 TGM1 ALOX12B
32 bleeding disorder, platelet-type, 8 9.8 ALOXE3 ALOX12B
33 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.7 ALOXE3 ALOX12B
34 epidermolytic hyperkeratosis 9.7 TGM1 ALOXE3
35 ichthyosis, congenital, autosomal recessive 7 9.6 TGM1 ALOXE3 ALOX12B
36 x-linked chondrodysplasia punctata 2 9.6 TGM1 ALOXE3 ALOX12B
37 ectropion 9.6 TGM1 ALOXE3 ALOX12B
38 ichthyosis, x-linked 9.6 TGM1 ALOXE3 ALOX12B
39 eyelid disease 9.6 TGM1 ALOXE3 ALOX12B
40 ichthyosis vulgaris 9.5 TGM1 ALOXE3 ALOX12B
41 ichthyosis, congenital, autosomal recessive 4b 9.2 TGM1 SULT2B1 ALOXE3 ALOX12B

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:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008064
2 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376

Drugs & Therapeutics for Self-Improving Collodion Baby

Drugs for Self-Improving Collodion Baby (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Orange Approved Phase 1
2 GABA Modulators Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I Single Site, Single Dose, Randomised, Double-blind, Placebo Controlled 3-way Cross-over Biomarker Study Investigating the Effect of the GABA Modulator AZD7325 on Short Interval Intracortical Inhibition (SICI) in Healthy Volunteers Completed NCT02135198 Phase 1 2 mg AZD7325;10 mg AZD7325;Placebo
2 Effects of Non-invasive Cerebellar Stimulation on Motor Learning and Cortical Electrical Activity of Healthy Individuals Completed NCT02559518

Search 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:

40
Eye, Skin

Publications for Self-Improving Collodion Baby

Articles related to Self-Improving Collodion Baby:

(show all 32)
# Title Authors PMID Year
1
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 6 61
19890349 2010
2
Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis. 6
31168818 2020
3
Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017. 6
31642606 2020
4
Inherited ichthyoses: molecular causes of the disease in Czech patients. 6
31046801 2019
5
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. 6
28575648 2017
6
Autosomal recessive congenital ichthyoses in the Czech Republic. 6
25998749 2016
7
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis. 6
26762237 2016
8
A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B. 6
25524567 2015
9
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. 6
23621129 2013
10
The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis. 6
22622417 2012
11
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations. 6
20222929 2010
12
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. 6
19131948 2009
13
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. 6
18347291 2008
14
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. 6
17139268 2007
15
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 6
16116617 2005
16
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. 6
11773004 2002
17
A case of self-improving collodion ichthyosis in Vietnam. 61
32105361 2020
18
Acral self-healing collodion baby. 61
28735267 2017
19
Acral self-healing collodion baby: A case series. 61
28492026 2016
20
Self-healing Collodion Baby: A New Mutation in the ALOX12B Gene. 61
26922124 2016
21
Inherited ichthyosis: Non-syndromic forms. 61
26945532 2016
22
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. 61
26646773 2016
23
Otologic Manifestations of Autosomal Recessive Congenital Ichthyosis in Children. 61
26206273 2015
24
Scanning electron microscopy of the collodion membrane from a self-healing collodion baby. 61
26375232 2015
25
Novel TGM1 missense mutation p.Arg727Gln in a case of self-healing collodion baby. 61
24419105 2014
26
Autosomal recessive congenital ichthyosis. 61
23562412 2013
27
Self-healing collodion baby. 61
20334876 2010
28
Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis. 61
19863506 2010
29
Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. 61
19500103 2009
30
Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. 61
12542526 2003
31
Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma. 61
10508988 1999
32
Self-healing collodion baby: evidence for autosomal recessive inheritance. 61
1603745 1992

Variations for Self-Improving Collodion Baby

ClinVar genetic disease variations for Self-Improving Collodion Baby:

6 (show top 50) (show all 205)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALOX12B NM_001139.3(ALOX12B):c.1277T>C (p.Leu426Pro) SNV Pathogenic 6083 rs137853023 GRCh37: 17:7980060-7980060
GRCh38: 17:8076742-8076742
2 ALOX12B NM_001139.3(ALOX12B):c.1734C>A (p.His578Gln) SNV Pathogenic 6084 rs137853024 GRCh37: 17:7976996-7976996
GRCh38: 17:8073678-8073678
3 ALOX12B NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp) SNV Pathogenic 39538 rs397514526 GRCh37: 17:7989346-7989346
GRCh38: 17:8086028-8086028
4 ALOX12B NM_001139.3(ALOX12B):c.2036G>T (p.Arg679Leu) SNV Pathogenic 39540 rs397514528 GRCh37: 17:7976159-7976159
GRCh38: 17:8072841-8072841
5 ALOX12B NM_001139.3(ALOX12B):c.1180G>A (p.Glu394Lys) SNV Pathogenic 39541 rs397514529 GRCh37: 17:7980403-7980403
GRCh38: 17:8077085-8077085
6 ALOX12B NM_001139.3(ALOX12B):c.410T>A (p.Ile137Asn) SNV Pathogenic 39542 rs397514530 GRCh37: 17:7984448-7984448
GRCh38: 17:8081130-8081130
7 ALOX12B NM_001139.3(ALOX12B):c.1207C>T (p.His403Tyr) SNV Pathogenic 39543 rs397514531 GRCh37: 17:7980376-7980376
GRCh38: 17:8077058-8077058
8 ALOX12B NM_001139.3(ALOX12B):c.353-1G>A SNV Pathogenic 39544 rs1598181810 GRCh37: 17:7984506-7984506
GRCh38: 17:8081188-8081188
9 ALOX12B NM_001139.3(ALOX12B):c.199A>T (p.Ile67Phe) SNV Pathogenic 39547 rs397514533 GRCh37: 17:7989487-7989487
GRCh38: 17:8086169-8086169
10 SULT2B1 NM_177973.2(SULT2B1):c.821G>A (p.Arg274Gln) SNV Pathogenic 426108 rs762765702 GRCh37: 19:49100171-49100171
GRCh38: 19:48596914-48596914
11 SULT2B1 NM_177973.2(SULT2B1):c.364dup (p.Met122fs) Duplication Pathogenic 426109 rs1114167425 GRCh37: 19:49090634-49090635
GRCh38: 19:48587377-48587378
12 SULT2B1 NM_177973.2(SULT2B1):c.71+2T>A SNV Pathogenic 426110 rs1114167426 GRCh37: 19:49055582-49055582
GRCh38: 19:48552325-48552325
13 ALOXE3 NM_001165960.1(ALOXE3):c.702T>A (p.Tyr234Ter) SNV Pathogenic 633810 rs1568005543 GRCh37: 17:8020140-8020140
GRCh38: 17:8116822-8116822
14 ALOXE3 NM_001165960.1(ALOXE3):c.1230C>A (p.Tyr410Ter) SNV Pathogenic 633811 rs765682032 GRCh37: 17:8014800-8014800
GRCh38: 17:8111482-8111482
15 ALOX12B NM_001139.3(ALOX12B):c.147+1_353-1del Deletion Pathogenic 633823 GRCh37: 17:7984505-7990612
GRCh38: 17:8081187-8087294
16 ALOX12B NM_001139.3(ALOX12B):c.435-2A>G SNV Pathogenic 803318 rs1598181642 GRCh37: 17:7984296-7984296
GRCh38: 17:8080978-8080978
17 ALOX12B NM_001139.3(ALOX12B):c.864del (p.Val289fs) Deletion Pathogenic 995475 GRCh37: 17:7983150-7983150
GRCh38: 17:8079832-8079832
18 ALOX12B NM_001139.3(ALOX12B):c.1655-7C>A SNV Pathogenic 995476 GRCh37: 17:7977082-7977082
GRCh38: 17:8073764-8073764
19 ALOX12B NM_001139.3(ALOX12B):c.2021_2022dup (p.Asp675fs) Microsatellite Pathogenic 995477 GRCh37: 17:7976172-7976173
GRCh38: 17:8072854-8072855
20 ALOX12B NM_001139.3(ALOX12B):c.2094C>A (p.Ser698Arg) SNV Pathogenic 995478 GRCh37: 17:7976101-7976101
GRCh38: 17:8072783-8072783
21 ALOX12B NM_001139.3(ALOX12B):c.1333CTC[1] (p.Leu446del) Microsatellite Pathogenic 995479 GRCh37: 17:7979999-7980001
GRCh38: 17:8076681-8076683
22 ALOX12B NM_001139.3(ALOX12B):c.1937dup (p.His647fs) Duplication Pathogenic 995480 GRCh37: 17:7976257-7976258
GRCh38: 17:8072939-8072940
23 ALOX12B NM_001139.3(ALOX12B):c.1859C>A (p.Pro620Gln) SNV Pathogenic 374101 rs780420901 GRCh37: 17:7976533-7976533
GRCh38: 17:8073215-8073215
24 ALOX12B NM_001139.3(ALOX12B):c.71T>C (p.Leu24Pro) SNV Pathogenic 995481 GRCh37: 17:7990690-7990690
GRCh38: 17:8087372-8087372
25 ALOX12B NM_001139.3(ALOX12B):c.307C>T (p.Gln103Ter) SNV Pathogenic 995482 GRCh37: 17:7989379-7989379
GRCh38: 17:8086061-8086061
26 ALOX12B NM_001139.3(ALOX12B):c.1533-1G>T SNV Pathogenic 995483 GRCh37: 17:7979035-7979035
GRCh38: 17:8075717-8075717
27 ALOX12B NM_001139.3(ALOX12B):c.2005_2037dup (p.Leu669_Arg679dup) Duplication Pathogenic 995484 GRCh37: 17:7976157-7976158
GRCh38: 17:8072839-8072840
28 ALOX12B NM_001139.3(ALOX12B):c.1630T>C (p.Cys544Arg) SNV Pathogenic 995485 GRCh37: 17:7978937-7978937
GRCh38: 17:8075619-8075619
29 ALOX12B NM_001139.3(ALOX12B):c.928-1G>C SNV Pathogenic 995486 GRCh37: 17:7982858-7982858
GRCh38: 17:8079540-8079540
30 ALOX12B NM_001139.3(ALOX12B):c.698G>A (p.Trp233Ter) SNV Pathogenic 995487 GRCh37: 17:7983609-7983609
GRCh38: 17:8080291-8080291
31 ALOX12B NM_001139.3(ALOX12B):c.1258T>G (p.Cys420Gly) SNV Pathogenic 808221 rs1598178838 GRCh37: 17:7980325-7980325
GRCh38: 17:8077007-8077007
32 ALOX12B NM_001139.3(ALOX12B):c.341G>A (p.Arg114Gln) SNV Pathogenic 995488 GRCh37: 17:7989345-7989345
GRCh38: 17:8086027-8086027
33 ALOX12B NM_001139.3(ALOX12B):c.1463G>A (p.Arg488His) SNV Pathogenic 995489 GRCh37: 17:7979562-7979562
GRCh38: 17:8076244-8076244
34 ALOX12B NM_001139.3(ALOX12B):c.467_470dup (p.His158fs) Duplication Pathogenic 995490 GRCh37: 17:7984258-7984259
GRCh38: 17:8080940-8080941
35 ALOX12B NM_001139.3(ALOX12B):c.938T>C (p.Ile313Thr) SNV Pathogenic 995491 GRCh37: 17:7982847-7982847
GRCh38: 17:8079529-8079529
36 ALOX12B NM_001139.3(ALOX12B):c.1787C>T (p.Pro596Leu) SNV Pathogenic 995492 GRCh37: 17:7976605-7976605
GRCh38: 17:8073287-8073287
37 ALOX12B NM_001139.3(ALOX12B):c.1676C>T (p.Thr559Ile) SNV Pathogenic 995493 GRCh37: 17:7977054-7977054
GRCh38: 17:8073736-8073736
38 ALOX12B NM_001139.2:c.1071+1dup Duplication Pathogenic 995494 GRCh37: 17:7982712-7982713
GRCh38: 17:8079394-8079395
39 ALOX12B NM_001139.3(ALOX12B):c.195_220del (p.Ile66fs) Deletion Pathogenic 995495 GRCh37: 17:7989466-7989491
GRCh38: 17:8086148-8086173
40 ALOX12B NM_001139.3(ALOX12B):c.1309A>T (p.Ile437Phe) SNV Pathogenic 995497 GRCh37: 17:7980028-7980028
GRCh38: 17:8076710-8076710
41 ALOX12B NM_001139.3(ALOX12B):c.2000A>C (p.Gln667Pro) SNV Pathogenic 995498 GRCh37: 17:7976195-7976195
GRCh38: 17:8072877-8072877
42 ALOX12B NM_001139.3(ALOX12B):c.1654+3A>G SNV Pathogenic 995499 GRCh37: 17:7978910-7978910
GRCh38: 17:8075592-8075592
43 ALOX12B NM_001139.3(ALOX12B):c.297C>A (p.Phe99Leu) SNV Pathogenic 995500 GRCh37: 17:7989389-7989389
GRCh38: 17:8086071-8086071
44 ALOX12B NM_001139.3(ALOX12B):c.1211T>G (p.Leu404Arg) SNV Pathogenic 995501 GRCh37: 17:7980372-7980372
GRCh38: 17:8077054-8077054
45 ALOX12B NM_001139.3(ALOX12B):c.734_745del (p.Gly245_Ser248del) Deletion Pathogenic 995502 GRCh37: 17:7983562-7983573
GRCh38: 17:8080244-8080255
46 ALOX12B NM_001139.3(ALOX12B):c.1018del (p.Leu340fs) Deletion Pathogenic 995711 GRCh37: 17:7982767-7982767
GRCh38: 17:8079449-8079449
47 ALOX12B NM_001139.3(ALOX12B):c.1025T>C (p.Leu342Pro) SNV Pathogenic 995712 GRCh37: 17:7982760-7982760
GRCh38: 17:8079442-8079442
48 ALOX12B NM_001139.3(ALOX12B):c.1071+1G>C SNV Pathogenic 995713 GRCh37: 17:7982713-7982713
GRCh38: 17:8079395-8079395
49 ALOX12B NM_001139.3(ALOX12B):c.1324C>T (p.Arg442Trp) SNV Pathogenic 995714 GRCh37: 17:7980013-7980013
GRCh38: 17:8076695-8076695
50 ALOX12B NM_001139.3(ALOX12B):c.1498G>C (p.Asp500His) SNV Pathogenic 423233 rs1064796312 GRCh37: 17:7979527-7979527
GRCh38: 17:8076209-8076209

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 ALOXE3 ALOX12B

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 9.61 SULT2B1 ALOXE3 ALOX12B
2 fatty acid metabolic process GO:0006631 9.46 ALOXE3 ALOX12B
3 sphingolipid metabolic process GO:0006665 9.4 ALOXE3 ALOX12B
4 arachidonic acid metabolic process GO:0019369 9.37 ALOXE3 ALOX12B
5 ceramide biosynthetic process GO:0046513 9.32 ALOXE3 ALOX12B
6 establishment of skin barrier GO:0061436 9.26 ALOXE3 ALOX12B
7 linoleic acid metabolic process GO:0043651 9.16 ALOXE3 ALOX12B
8 lipoxygenase pathway GO:0019372 8.96 ALOXE3 ALOX12B
9 hepoxilin biosynthetic process GO:0051122 8.62 ALOXE3 ALOX12B

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

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.32 ALOXE3 ALOX12B
2 isomerase activity GO:0016853 9.26 ALOXE3 ALOX12B
3 iron ion binding GO:0005506 9.16 ALOXE3 ALOX12B
4 dioxygenase activity GO:0051213 8.96 ALOXE3 ALOX12B
5 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 8.62 ALOXE3 ALOX12B

Sources for Self-Improving Collodion Baby

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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