SHCB
MCID: SLF015
MIFTS: 32

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 59
Self-Healing Collodion Baby 59 72
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:



External Ids:

ICD10 via Orphanet 34 Q80.2
UMLS via Orphanet 73 C1855789
Orphanet 59 ORPHA281122
UMLS 72 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 Neurotransmitter Uptake Inhibitors and Adrenergic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and skin, 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:

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

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

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Neurotransmitter Uptake Inhibitors Phase 3
2 Adrenergic Agents Phase 3
3 Atomoxetine Hydrochloride Phase 3
4 Pharmaceutical Solutions Phase 2
5 Orange Approved Phase 1
6 GABA Agents Phase 1
7 GABA Modulators Phase 1
8
Dopamine Approved 51-61-6, 62-31-7 681
9
Methamphetamine Approved, Illicit 537-46-2 10836
10
Methylphenidate Approved, Investigational 113-45-1 4158
11
Ethanol Approved 64-17-5 702
12
Acetylcholine Approved, Investigational 51-84-3 187
13
Glutamic acid Approved, Nutraceutical 56-86-0 33032
14 Nabiximols Investigational 56575-23-6
15 Dopamine Agents
16 Sympathomimetics
17 Dopamine Uptake Inhibitors
18 Autonomic Agents
19 Central Nervous System Depressants
20 Anti-Infective Agents, Local
21 Anti-Infective Agents
22 Analgesics
23 Peripheral Nervous System Agents
24 Anesthetics
25 Central Nervous System Stimulants
26 Neurotransmitter Agents
27 Cholinergic Agents
28 Acetylcholine Release Inhibitors
29 Botulinum Toxins

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
2 Cortical Excitability: Phenotype and Biomarker in ADHD Therapy Unknown status NCT01330693 Phase 3 Atomoxetine;Sugar Pill
3 Effect of Transcranial Direct Current Stimulation (tDCS) Optimized Protocol for the Treatment of Migraine Unknown status NCT02562196 Phase 2
4 Optimizing the Effect of Transcranial Direct Current Stimulation (tDCS) for the Treatment of Migraine Unknown status NCT02562222 Phase 2
5 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
6 Effects of Non-invasive Stimulation on Central Nervous System Excitability of Healthy Volunteers Unknown status NCT02659826
7 Evaluating the Effect of Methylphenidate on Intracortical Inhibition in Methamphetamine Abusers Comorbid With Attention Deficit Disorder With Hyperactivity(ADHD) in TMS Unit, Neurcognitive Lab, Iranian National Center for Addiction Studies (INCAS), in 2012. A Randomized, Controlled Trial Unknown status NCT01651169
8 The Effects of Repetitive Transcranial Magnetic Stimulation in Healthy Human Subjects Completed NCT00658307
9 Prospective Study Evaluating the Routine Standard Use of Fractional Flow Reserve and Disagreement With Guideline Recommendations: a Nationwide Study Completed NCT03082989
10 Impaired Motor Learning and LTP/LTD-like Plasticity in Dystonia, Are Associated With Abnormal Modulation of Cortical Excitability by Somatosensory Volleys Completed NCT00102999
11 Role of the Cortical Medial Frontal Areas in Blepharospasm Completed NCT00500799
12 Effects of Non-invasive Cerebellar Stimulation on Motor Learning and Cortical Electrical Activity of Healthy Individuals Completed NCT02559518
13 Effects of the Visual Stimulation on the Motor and Visual Cortex in Migraneurs With and Without Aura Completed NCT02564822
14 Rehabilitative Trial With Transcranial Direct Current Stimulation (tDCS) in Amyotrophic Lateral Sclerosis Completed NCT03293394
15 Investigating the Plastic Effects of Repetitive Paired Associative Stimulation (rPAS) in Dystonia Completed NCT01888926
16 Ethanol Response in Essential Tremor: Clinical and Neurophysiological Correlates Completed NCT01200966
17 The Role of SAtivex® Associated With Robotic-Rehabilitation in Improving the Motor Performances of Multiple Sclerosis Patients (SARR) Completed NCT03186664 Sativex
18 The Effect of Surround Inhibition During Phasic Compared to Tonic Voluntary Finger Movement in Focal Hand Dystonia Completed NCT00376753
19 Enhancing Interhemispheric Disinhibition Between Motor Cortices Using Bilateral Brain Stimulation Completed NCT00396890
20 Detailed Evaluation of the Neurophysiology of Surround Inhibition in the Human Motor Cortex Recruiting NCT03018262
21 Effect of rTMS Over the Medial Cerebellum on Negative Symptoms and Cognitive Dysmetria in Subjects With Treatment Refractory Schizophrenia Recruiting NCT02242578
22 Targeting Brain Physiology to Treat Neuropsychiatric Symptoms of Dementia Using TMS-EEG and tDCS Recruiting NCT03846492
23 Movement-Based Training for Children With ADHD: A Feasibility Study Recruiting NCT02234557
24 Efficacy of the Non-invasive Brain Stimulation Techniques for Lower Limb Recovery in Stroke Patients Recruiting NCT02920333
25 Effects of Ongoing Movement-Based Mindfulness Training for Children With ADHD Enrolling by invitation NCT03434509
26 Metabotropic Receptors For Glutamate Type 3 In Parkinson's Disease: Clinical And Neurophysiological Correlations Not yet recruiting NCT03998787
27 Clinical Relevance of miR-142-3p as Potential Biomarker of Synaptopathy in Multiple Sclerosis Not yet recruiting NCT03999788
28 Physiological Effects of Botulinum Toxin Therapy in Primary Cervical Dystonia Terminated NCT02837185
29 Interhemispheric Interaction of Parieto-Motor Cortico-Cortical Plasticity in Human Brain Withdrawn NCT03253731

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:

41
Brain, Cortex, Skin, Eye, Cerebellum

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. 38 71
19890349 2010
2
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. 71
19131948 2009
3
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. 71
18347291 2008
4
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. 71
17139268 2007
5
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 71
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. 71
11773004 2002
7
Autosomal Recessive Congenital Ichthyosis 71
20301593 2001
8
Acral self-healing collodion baby. 38
28735267 2017
9
Acral self-healing collodion baby: A case series. 38
28492026 2016
10
Self-healing Collodion Baby: A New Mutation in the ALOX12B Gene. 38
26922124 2016
11
Inherited ichthyosis: Non-syndromic forms. 38
26945532 2016
12
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. 38
26646773 2016
13
Otologic Manifestations of Autosomal Recessive Congenital Ichthyosis in Children. 38
26206273 2015
14
Scanning electron microscopy of the collodion membrane from a self-healing collodion baby. 38
26375232 2015
15
Novel TGM1 missense mutation p.Arg727Gln in a case of self-healing collodion baby. 38
24419105 2014
16
Autosomal recessive congenital ichthyosis. 38
23562412 2013
17
Self-healing collodion baby. 38
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. 38
19863506 2010
19
Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. 38
19500103 2009
20
Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. 38
12542526 2003
21
Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma. 38
10508988 1999
22
Self-healing collodion baby: evidence for autosomal recessive inheritance. 38
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 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 9.46 ALOXE3 ALOX12B
2 fatty acid metabolic process GO:0006631 9.43 ALOXE3 ALOX12B
3 sphingolipid metabolic process GO:0006665 9.4 ALOXE3 ALOX12B
4 ceramide biosynthetic process GO:0046513 9.37 ALOXE3 ALOX12B
5 arachidonic acid metabolic process GO:0019369 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 iron ion binding GO:0005506 9.16 ALOXE3 ALOX12B
2 dioxygenase activity GO:0051213 8.96 ALOXE3 ALOX12B
3 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
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....