SHCB
MCID: SLF015
MIFTS: 33

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 71
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 72 C1855789
Orphanet 58 ORPHA281122
UMLS 71 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 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 40)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 2 31.4 SULT2B1 ALOXE3 ALOX12B
2 ichthyosis, congenital, autosomal recessive 1 30.5 TGM1 SULT2B1 ALOXE3 ALOX12B
3 ichthyosis lamellar 1 29.8 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 10.9
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 9.8 TGM1 ALOX12B
32 bleeding disorder, platelet-type, 8 9.7 ALOXE3 ALOX12B
33 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.7 ALOXE3 ALOX12B
34 ichthyosis, congenital, autosomal recessive 7 9.6 TGM1 ALOXE3 ALOX12B
35 x-linked chondrodysplasia punctata 2 9.6 TGM1 ALOXE3 ALOX12B
36 ectropion 9.6 TGM1 ALOXE3 ALOX12B
37 eyelid disease 9.5 TGM1 ALOXE3 ALOX12B
38 ichthyosis vulgaris 9.5 TGM1 ALOXE3 ALOX12B
39 ichthyosis, congenital, autosomal recessive 4b 9.2 TGM1 SULT2B1 ALOXE3 ALOX12B
40 ichthyosis, x-linked 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

Publications for Self-Improving Collodion Baby

Articles related to Self-Improving Collodion Baby:

(show all 22)
# Title Authors PMID Year
1
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 61 6
19890349 2010
2
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. 6
19131948 2009
3
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. 6
18347291 2008
4
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. 6
17139268 2007
5
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 6
16116617 2005
6
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
7
A case of self-improving collodion ichthyosis in Vietnam. 61
32105361 2020
8
Acral self-healing collodion baby. 61
28735267 2017
9
Acral self-healing collodion baby: A case series. 61
28492026 2016
10
Self-healing Collodion Baby: A New Mutation in the ALOX12B Gene. 61
26922124 2016
11
Inherited ichthyosis: Non-syndromic forms. 61
26945532 2016
12
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. 61
26646773 2016
13
Otologic Manifestations of Autosomal Recessive Congenital Ichthyosis in Children. 61
26206273 2015
14
Scanning electron microscopy of the collodion membrane from a self-healing collodion baby. 61
26375232 2015
15
Novel TGM1 missense mutation p.Arg727Gln in a case of self-healing collodion baby. 61
24419105 2014
16
Autosomal recessive congenital ichthyosis. 61
23562412 2013
17
Self-healing collodion baby. 61
20334876 2010
18
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
19
Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. 61
19500103 2009
20
Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. 61
12542526 2003
21
Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma. 61
10508988 1999
22
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 203)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALOX12B NM_001139.3(ALOX12B):c.410T>A (p.Ile137Asn) SNV Pathogenic 39542 rs397514530 17:7984448-7984448 17:8081130-8081130
2 ALOX12B NM_001139.3(ALOX12B):c.1207C>T (p.His403Tyr) SNV Pathogenic 39543 rs397514531 17:7980376-7980376 17:8077058-8077058
3 ALOX12B NM_001139.3(ALOX12B):c.353-1G>A SNV Pathogenic 39544 rs1598181810 17:7984506-7984506 17:8081188-8081188
4 SULT2B1 NM_177973.2(SULT2B1):c.821G>A (p.Arg274Gln) SNV Pathogenic 426108 rs762765702 19:49100171-49100171 19:48596914-48596914
5 SULT2B1 NM_177973.2(SULT2B1):c.364dup (p.Met122fs) Duplication Pathogenic 426109 rs1114167425 19:49090634-49090635 19:48587377-48587378
6 SULT2B1 NM_177973.2(SULT2B1):c.71+2T>A SNV Pathogenic 426110 rs1114167426 19:49055582-49055582 19:48552325-48552325
7 ALOXE3 NM_001165960.1(ALOXE3):c.702T>A (p.Tyr234Ter) SNV Pathogenic 633810 rs1568005543 17:8020140-8020140 17:8116822-8116822
8 ALOXE3 NM_001165960.1(ALOXE3):c.1230C>A (p.Tyr410Ter) SNV Pathogenic 633811 rs765682032 17:8014800-8014800 17:8111482-8111482
9 ALOX12B NM_001139.3(ALOX12B):c.435-2A>G SNV Pathogenic 803318 rs1598181642 17:7984296-7984296 17:8080978-8080978
10 ALOX12B NM_001139.3(ALOX12B):c.149_353del (p.Val50fs) Deletion Pathogenic 633823 17:7984505-7990612 17:8081187-8087294
11 ALOX12B NM_001139.3(ALOX12B):c.286_287dup (p.Tyr97fs) Duplication Pathogenic 633825 rs1567985261 17:7989398-7989399 17:8086080-8086081
12 ALOX12B NM_001139.3(ALOX12B):c.864del (p.Val289fs) Deletion Pathogenic 995475 17:7983150-7983150 17:8079832-8079832
13 ALOX12B NM_001139.3(ALOX12B):c.1655-7C>A SNV Pathogenic 995476 17:7977082-7977082 17:8073764-8073764
14 ALOX12B NM_001139.3(ALOX12B):c.2021_2022dup (p.Asp675fs) Microsatellite Pathogenic 995477 17:7976172-7976173 17:8072854-8072855
15 ALOX12B NM_001139.3(ALOX12B):c.2094C>A (p.Ser698Arg) SNV Pathogenic 995478 17:7976101-7976101 17:8072783-8072783
16 ALOX12B NM_001139.3(ALOX12B):c.1333CTC[1] (p.Leu446del) Microsatellite Pathogenic 995479 17:7979999-7980001 17:8076681-8076683
17 ALOX12B NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys) SNV Pathogenic 265038 rs750066836 17:7980427-7980427 17:8077109-8077109
18 ALOX12B NM_001139.3(ALOX12B):c.1937dup (p.His647fs) Duplication Pathogenic 995480 17:7976257-7976258 17:8072939-8072940
19 ALOX12B NM_001139.3(ALOX12B):c.1859C>A (p.Pro620Gln) SNV Pathogenic 374101 rs780420901 17:7976533-7976533 17:8073215-8073215
20 ALOX12B NM_001139.3(ALOX12B):c.71T>C (p.Leu24Pro) SNV Pathogenic 995481 17:7990690-7990690 17:8087372-8087372
21 ALOX12B NM_001139.3(ALOX12B):c.307C>T (p.Gln103Ter) SNV Pathogenic 995482 17:7989379-7989379 17:8086061-8086061
22 ALOX12B NM_001139.3(ALOX12B):c.1533-1G>T SNV Pathogenic 995483 17:7979035-7979035 17:8075717-8075717
23 ALOX12B NM_001139.3(ALOX12B):c.2005_2037dup (p.Leu669_Arg679dup) Duplication Pathogenic 995484 17:7976157-7976158 17:8072839-8072840
24 ALOX12B NM_001139.3(ALOX12B):c.1630T>C (p.Cys544Arg) SNV Pathogenic 995485 17:7978937-7978937 17:8075619-8075619
25 ALOX12B NM_001139.3(ALOX12B):c.928-1G>C SNV Pathogenic 995486 17:7982858-7982858 17:8079540-8079540
26 ALOX12B NM_001139.3(ALOX12B):c.698G>A (p.Trp233Ter) SNV Pathogenic 995487 17:7983609-7983609 17:8080291-8080291
27 ALOX12B NM_001139.3(ALOX12B):c.1258T>G (p.Cys420Gly) SNV Pathogenic 808221 rs1598178838 17:7980325-7980325 17:8077007-8077007
28 ALOX12B NM_001139.3(ALOX12B):c.341G>A (p.Arg114Gln) SNV Pathogenic 995488 17:7989345-7989345 17:8086027-8086027
29 ALOX12B NM_001139.3(ALOX12B):c.1463G>A (p.Arg488His) SNV Pathogenic 995489 17:7979562-7979562 17:8076244-8076244
30 ALOX12B NM_001139.3(ALOX12B):c.467_470dup (p.His158fs) Duplication Pathogenic 995490 17:7984258-7984259 17:8080940-8080941
31 ALOX12B NM_001139.3(ALOX12B):c.938T>C (p.Ile313Thr) SNV Pathogenic 995491 17:7982847-7982847 17:8079529-8079529
32 ALOX12B NM_001139.3(ALOX12B):c.1787C>T (p.Pro596Leu) SNV Pathogenic 995492 17:7976605-7976605 17:8073287-8073287
33 ALOX12B NM_001139.3(ALOX12B):c.1676C>T (p.Thr559Ile) SNV Pathogenic 995493 17:7977054-7977054 17:8073736-8073736
34 ALOX12B NM_001139.2:c.1071+1dup Duplication Pathogenic 995494 17:7982712-7982713 17:8079394-8079395
35 ALOX12B NM_001139.3(ALOX12B):c.195_220del (p.Ile66fs) Deletion Pathogenic 995495 17:7989466-7989491 17:8086148-8086173
36 ALOX12B NM_001139.3(ALOX12B):c.1350del (p.Leu451fs) Deletion Pathogenic 995496 17:7979987-7979987 17:8076669-8076669
37 ALOX12B NM_001139.3(ALOX12B):c.1309A>T (p.Ile437Phe) SNV Pathogenic 995497 17:7980028-7980028 17:8076710-8076710
38 ALOX12B NM_001139.3(ALOX12B):c.2000A>C (p.Gln667Pro) SNV Pathogenic 995498 17:7976195-7976195 17:8072877-8072877
39 ALOX12B NM_001139.3(ALOX12B):c.1654+3A>G SNV Pathogenic 995499 17:7978910-7978910 17:8075592-8075592
40 ALOX12B NM_001139.3(ALOX12B):c.297C>A (p.Phe99Leu) SNV Pathogenic 995500 17:7989389-7989389 17:8086071-8086071
41 ALOX12B NM_001139.3(ALOX12B):c.1211T>G (p.Leu404Arg) SNV Pathogenic 995501 17:7980372-7980372 17:8077054-8077054
42 ALOX12B NM_001139.3(ALOX12B):c.734_745del (p.Gly245_Ser248del) Deletion Pathogenic 995502 17:7983562-7983573 17:8080244-8080255
43 ALOX12B NM_001139.3(ALOX12B):c.1018del (p.Leu340fs) Deletion Pathogenic 995711 17:7982767-7982767 17:8079449-8079449
44 ALOX12B NM_001139.3(ALOX12B):c.1025T>C (p.Leu342Pro) SNV Pathogenic 995712 17:7982760-7982760 17:8079442-8079442
45 ALOX12B NM_001139.3(ALOX12B):c.1071+1G>C SNV Pathogenic 995713 17:7982713-7982713 17:8079395-8079395
46 ALOX12B NM_001139.3(ALOX12B):c.1324C>T (p.Arg442Trp) SNV Pathogenic 995714 17:7980013-7980013 17:8076695-8076695
47 ALOX12B NM_001139.3(ALOX12B):c.1498G>C (p.Asp500His) SNV Pathogenic 423233 rs1064796312 17:7979527-7979527 17:8076209-8076209
48 ALOX12B NM_001139.3(ALOX12B):c.1405C>T (p.Arg469Trp) SNV Pathogenic 995715 17:7979620-7979620 17:8076302-8076302
49 ALOX12B NM_001139.3(ALOX12B):c.209A>C (p.His70Pro) SNV Pathogenic 995716 17:7989477-7989477 17:8086159-8086159
50 ALOX12B NM_001139.3(ALOX12B):c.1963G>A (p.Glu655Lys) SNV Pathogenic 995717 17:7976232-7976232 17:8072914-8072914

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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