ARCI2
MCID: ICH049
MIFTS: 43

Ichthyosis, Congenital, Autosomal Recessive 2 (ARCI2) malady

Categories: Genetic diseases, Skin diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 2

Aliases & Descriptions for Ichthyosis, Congenital, Autosomal Recessive 2:

Name: Ichthyosis, Congenital, Autosomal Recessive 2 54 66 13 69
Self-Healing Collodion Baby 56 66 69
Autosomal Recessive Congenital Ichthyosis 2 12 29
Arci2 12 66
Ncie1 12 66
Ichthyosiform Erythroderma Brocq Congenital Non-Bullous Form 66
Brocq Congenital Ichthyosiform Erythroderma Nonbullous Form 12
Non-Bullous Congenital Ichthyosiform Erythroderma Type 1 66
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 69
Nonbullous Congenital Ichthyosiform Erythroderma 1 12
Ichthyosiform Erythroderma, Congenital 66
Ichthyosiform Erythroderma Congenital 52
Iecn1 66
Shcb 56
Cie 66

Characteristics:

Orphanet epidemiological data:

56
self-healing collodion baby
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
ichthyosis, congenital, autosomal recessive 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 242100
Disease Ontology 12 DOID:0060710
ICD10 33 Q80.2
Orphanet 56 ORPHA281122
ICD10 via Orphanet 34 Q80.2
MedGen 40 C1855792
MeSH 42 D017490

Summaries for Ichthyosis, Congenital, Autosomal Recessive 2

OMIM : 54 Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized... (242100) more...

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 2, also known as self-healing collodion baby, is related to acral self-healing collodion baby and congenital ichthyosiform erythroderma, and has symptoms including ichthyosis, limitation of joint mobility and thin nail. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 2 is ALOX12B (Arachidonate 12-Lipoxygenase, 12R Type), and among its related pathways/superpathways are Keratinization and Prostaglandin 2 biosynthesis and metabolism FM. The drugs Bezafibrate and Clofibric Acid have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotype is integument.

Disease Ontology : 12 An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has material basis in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13.

UniProtKB/Swiss-Prot : 66 Ichthyosis, congenital, autosomal recessive 2: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 2

Diseases in the Ichthyosis family:

Ichthyosis, Congenital, Autosomal Recessive 4a Ichthyosis, Autosomal Recessive 4b
Ichthyosis, Congenital, Autosomal Recessive 6 Ichthyosis, Congenital, Autosomal Recessive 10
Ichthyosis, Congenital, Autosomal Recessive 8 Ichthyosis, Congenital, Autosomal Recessive 11
Ichthyosis, Congenital, Autosomal Recessive 7 Ichthyosis, Congenital, Autosomal Recessive 1
Ichthyosis, Congenital, Autosomal Recessive 9 Ichthyosis, Congenital, Autosomal Recessive 2
Ichthyosis, Congenital, Autosomal Recessive 3 Ichthyosis, Congenital, Autosomal Recessive 5
Autosomal Recessive Congenital Ichthyosis Ichthyosis, Acquired
Abca12-Related Autosomal Recessive Congenital Ichthyosis Alox12b-Related Autosomal Recessive Congenital Ichthyosis
Aloxe3-Related Autosomal Recessive Congenital Ichthyosis Cyp4f22-Related Autosomal Recessive Congenital Ichthyosis
Lipn-Related Autosomal Recessive Congenital Ichthyosis Pnpla1-Related Autosomal Recessive Congenital Ichthyosis
St14-Related Autosomal Recessive Congenital Ichthyosis Tgm1-Related Autosomal Recessive Congenital Ichthyosis

Diseases related to Ichthyosis, Congenital, Autosomal Recessive 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
id Related Disease Score Top Affiliating Genes
1 acral self-healing collodion baby 12.5
2 congenital ichthyosiform erythroderma 11.6
3 ichthyosis, congenital, autosomal recessive 1 10.9
4 autosomal recessive congenital ichthyosis 10.8
5 atelosteogenesis ii 9.9 SPINK5 TGM1
6 roussy-levy syndrome 9.9 LOR TGM1
7 ectodermal dysplasia 2, clouston type 9.8 LOR TGM1
8 plague 9.8
9 bubonic plague 9.8
10 cholera 9.8
11 dermatitis, atopic 2 9.7 LOR TGM1
12 amyotrophic lateral sclerosis 19 9.7 ALOX12B ALOXE3 NIPAL4 TGM1
13 insulinoma 9.6 ALOX12B ALOXE3 SPINK5 TGM1
14 solitary bone cyst 9.6 LOR SPINK5 TGM1
15 preauricular tag, isolated, autosomal dominant, 1 9.5 ALOX12B ALOXE3 NIPAL4 SPINK5 TGM1
16 autosomal dominant nocturnal frontal lobe epilepsy 9.5 ALOX12B ALOXE3 NIPAL4 SPINK5 TGM1
17 steroid inherited metabolic disorder 9.4 ALOX12B ALOXE3 NIPAL4 SPINK5 TGM1
18 cerebroretinal microangiopathy with calcifications and cysts 9.2 ALOX12B ALOXE3 LOR NIPAL4 SPINK5 TGM1
19 richter's syndrome 9.1 ALOX12B ALOXE3 LOR NIPAL4 SPINK5 TGM1

Graphical network of the top 20 diseases related to Ichthyosis, Congenital, Autosomal Recessive 2:



Diseases related to Ichthyosis, Congenital, Autosomal Recessive 2

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 2

Symptoms by clinical synopsis from OMIM:

242100

Clinical features from OMIM:

242100

Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 2:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 56 32 Very frequent (99-80%) HP:0008064
2 limitation of joint mobility 56 32 Very frequent (99-80%) HP:0001376
3 thin nail 32 HP:0001816
4 intellectual disability 32 HP:0001249
5 palmoplantar keratoderma 32 HP:0000982
6 everted lower lip vermilion 32 HP:0000232
7 hypohidrosis 32 HP:0000966
8 growth delay 32 HP:0001510
9 short toe 32 HP:0001831
10 small nail 32 HP:0001792
11 paralysis 32 HP:0003470
12 abnormality of the hair 32 HP:0001595
13 short finger 32 HP:0009381
14 ectropion 32 HP:0000656
15 congenital nonbullous ichthyosiform erythroderma 32 HP:0007479
16 congenital ichthyosiform erythroderma 32 HP:0007431
17 external genital hypoplasia 32 HP:0003241

MGI Mouse Phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 2:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 ALOX12B ALOXE3 SPINK5 TGM1

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 2

Drugs for Ichthyosis, Congenital, Autosomal Recessive 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved Phase 4 41859-67-0 39042
2 Clofibric Acid Phase 4 882-09-7
3 Hypolipidemic Agents Phase 4,Phase 2
4 Anticholesteremic Agents Phase 4,Phase 2
5 Lipid Regulating Agents Phase 4,Phase 2
6 Antimetabolites Phase 4,Phase 2
7 liarozole Phase 2, Phase 3
8 Monolaurin Phase 3
9 Dermatologic Agents Phase 2, Phase 3,Phase 1
10 Hormone Antagonists Phase 2, Phase 3
11 Androgen Antagonists Phase 2, Phase 3
12 Androgens Phase 2, Phase 3
13 Hormones Phase 2, Phase 3
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
15 Protective Agents Phase 3
16 Antineoplastic Agents, Hormonal Phase 2, Phase 3
17 Cariostatic Agents Phase 3
18
Ethanol Approved Phase 2 64-17-5 702
19
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
20
Pimecrolimus Approved, Investigational Phase 1, Phase 2 137071-32-0 6447131 17753757
21
Adalimumab Approved Phase 2 331731-18-1 16219006
22 Analgesics Phase 1, Phase 2
23 Analgesics, Non-Narcotic Phase 1, Phase 2
24 Peripheral Nervous System Agents Phase 1, Phase 2
25 Immunosuppressive Agents Phase 1, Phase 2
26 Anti-Inflammatory Agents Phase 1, Phase 2
27 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
28 Antirheumatic Agents Phase 1, Phase 2
29 Calcineurin Inhibitors Phase 1, Phase 2
30 Pharmaceutical Solutions Phase 2
31 Immunoglobulins Phase 2
32 Antibodies, Monoclonal Phase 2
33 Antibodies Phase 2

Interventional clinical trials:

(show all 22)
id Name Status NCT ID Phase
1 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4
2 Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous Unknown status NCT01222000 Phase 3
3 Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis Completed NCT00004690 Phase 3
4 Efficacy and Safety of Two Doses of Liarozole vs. Placebo for the Treatment of Lamellar Ichthyosis Completed NCT00282724 Phase 2, Phase 3
5 A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS) Completed NCT02402309 Phase 2
6 Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome Completed NCT00208026 Phase 1, Phase 2
7 A Safety and Tolerability Study of Topical PAT-001 in Congenital Ichthyosis Recruiting NCT02864082 Phase 2
8 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Recruiting NCT03041038 Phase 2
9 A Six Week Topical Cream Study for Subjects With Ichthyosis Vulgaris Recruiting NCT03173547 Phase 2
10 Clinical Trial Using Humira in Netherton Syndrome Active, not recruiting NCT02113904 Phase 2
11 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2
12 A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton Syndrome Completed NCT01428297 Phase 1
13 Gene Therapy for Netherton Syndrome Recruiting NCT01545323 Phase 1
14 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685
15 Study of Scaling Disorders and Other Inherited Skin Diseases Completed NCT00001292
16 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population Completed NCT01016106
17 A Multi-center, Prospective Evaluation of Infants and Children With Congenital Ichthyosis Recruiting NCT02655861
18 International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Recruiting NCT02918032
19 Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M Recruiting NCT02830763
20 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
21 Natural History and Biological Study of Netherton Syndrome Recruiting NCT02081313
22 Comparison of Different Concentrations of Carbamide as Moisturizers in Ichthyosis Vulgaris Enrolling by invitation NCT02978209

Search NIH Clinical Center for Ichthyosis, Congenital, Autosomal Recessive 2

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 2

Genetic tests related to Ichthyosis, Congenital, Autosomal Recessive 2:

id Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis 2 29

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 2

MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 2:

39
Skin

Publications for Ichthyosis, Congenital, Autosomal Recessive 2

Variations for Ichthyosis, Congenital, Autosomal Recessive 2

UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 2:

66 (show all 18)
id Symbol AA change Variation ID SNP ID
1 ALOX12B p.Leu426Pro VAR_015173 rs137853023
2 ALOX12B p.His578Gln VAR_015174 rs137853024
3 ALOX12B p.Leu24Pro VAR_069545 rs201575829
4 ALOX12B p.Ile67Phe VAR_069546 rs397514533
5 ALOX12B p.Arg114Trp VAR_069547 rs397514526
6 ALOX12B p.Pro127Ser VAR_069548 rs72842957
7 ALOX12B p.Phe195Leu VAR_069549 rs200516538
8 ALOX12B p.Tyr318Cys VAR_069550
9 ALOX12B p.Lys382Glu VAR_069551
10 ALOX12B p.Thr383Met VAR_069552 rs760428119
11 ALOX12B p.Asn416Lys VAR_069553
12 ALOX12B p.Gly462Asp VAR_069554 rs774958790
13 ALOX12B p.Arg488His VAR_069555 rs763468558
14 ALOX12B p.Tyr521Cys VAR_069556 rs199766569
15 ALOX12B p.Val527Met VAR_069557 rs199545653
16 ALOX12B p.Ala597Glu VAR_069558 rs752509098
17 ALOX12B p.Ala664Pro VAR_069559
18 ALOX12B p.Arg679Leu VAR_069560 rs397514528

ClinVar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 2:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 NIPAL4 NM_001099287.1(NIPAL4): c.527C> A (p.Ala176Asp) single nucleotide variant Pathogenic rs199422217 GRCh37 Chromosome 5, 156895736: 156895736
2 ALOX12B NM_001139.2(ALOX12B): c.1387delT (p.Phe463Leufs) deletion Pathogenic rs387906349 GRCh37 Chromosome 17, 7979638: 7979638
3 ALOX12B NM_001139.2(ALOX12B): c.1277T> C (p.Leu426Pro) single nucleotide variant Pathogenic rs137853023 GRCh37 Chromosome 17, 7980060: 7980060
4 ALOX12B NM_001139.2(ALOX12B): c.1734C> A (p.His578Gln) single nucleotide variant Pathogenic rs137853024 GRCh37 Chromosome 17, 7976996: 7976996
5 TGM1 NM_000359.2(TGM1): c.1223_1227delACACA (p.Asp408Valfs) deletion Pathogenic/Likely pathogenic rs398122905 GRCh37 Chromosome 14, 24727812: 24727816
6 ALOX12B NM_001139.2(ALOX12B): c.340C> T (p.Arg114Trp) single nucleotide variant Pathogenic rs397514526 GRCh37 Chromosome 17, 7989346: 7989346
7 ALOX12B NM_001139.2(ALOX12B): c.2036G> T (p.Arg679Leu) single nucleotide variant Pathogenic rs397514528 GRCh37 Chromosome 17, 7976159: 7976159
8 ALOX12B NM_001139.2(ALOX12B): c.1180G> A (p.Glu394Lys) single nucleotide variant Pathogenic rs397514529 GRCh37 Chromosome 17, 7980403: 7980403
9 ALOX12B NM_001139.2(ALOX12B): c.1207C> T (p.His403Tyr) single nucleotide variant Pathogenic rs397514531 GRCh37 Chromosome 17, 7980376: 7980376
10 ALOX12B ALOX12B, IVS2, G-A, -1 single nucleotide variant Pathogenic
11 ALOX12B NM_001139.2(ALOX12B): c.1642C> T (p.Arg548Trp) single nucleotide variant Pathogenic rs397514532 GRCh37 Chromosome 17, 7978925: 7978925
12 ALOX12B NM_001139.2(ALOX12B): c.1562A> G (p.Tyr521Cys) single nucleotide variant Pathogenic rs199766569 GRCh37 Chromosome 17, 7979005: 7979005
13 ALOX12B NM_001139.2(ALOX12B): c.199A> T (p.Ile67Phe) single nucleotide variant Pathogenic rs397514533 GRCh37 Chromosome 17, 7989487: 7989487
14 ALOX12B NM_001139.2(ALOX12B): c.1579G> A (p.Val527Met) single nucleotide variant Likely pathogenic rs199545653 GRCh38 Chromosome 17, 8075670: 8075670

Expression for Ichthyosis, Congenital, Autosomal Recessive 2

Search GEO for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 2.

Pathways for Ichthyosis, Congenital, Autosomal Recessive 2

Pathways related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.59 LOR SPINK5 TGM1
2 9.98 ALOX12B ALOXE3

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 2

Cellular components related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 8.62 LOR TGM1

Biological processes related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 fatty acid metabolic process GO:0006631 9.49 ALOX12B ALOXE3
2 keratinocyte differentiation GO:0030216 9.48 LOR TGM1
3 peptide cross-linking GO:0018149 9.46 LOR TGM1
4 sphingolipid metabolic process GO:0006665 9.43 ALOX12B ALOXE3
5 ceramide biosynthetic process GO:0046513 9.4 ALOX12B ALOXE3
6 arachidonic acid metabolic process GO:0019369 9.37 ALOX12B ALOXE3
7 establishment of skin barrier GO:0061436 9.32 ALOX12B ALOXE3
8 linoleic acid metabolic process GO:0043651 9.26 ALOX12B ALOXE3
9 lipoxygenase pathway GO:0019372 9.16 ALOX12B ALOXE3
10 cornification GO:0070268 9.13 LOR SPINK5 TGM1
11 hepoxilin biosynthetic process GO:0051122 8.62 ALOX12B ALOXE3

Molecular functions related to Ichthyosis, Congenital, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

id 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 Ichthyosis, Congenital, Autosomal Recessive 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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