ARCI2
MCID: ICH049
MIFTS: 44

Ichthyosis, Congenital, Autosomal Recessive 2 (ARCI2)

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

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 2

MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 2:

Name: Ichthyosis, Congenital, Autosomal Recessive 2 56 73 13 71
Autosomal Recessive Congenital Ichthyosis 2 12 29 6
Arci2 56 12 73
Ncie1 12 73
Ichthyosiform Erythroderma, Nonbullous Congenital, 1, Formerly; Ncie1, Formerly 56
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form, Formerly 56
Ichthyosiform Erythroderma, Nonbullous Congenital, 1, Formerly 56
Ichthyosiform Erythroderma Brocq Congenital Non-Bullous Form 73
Brocq Congenital Ichthyosiform Erythroderma Nonbullous Form 12
Non-Bullous Congenital Ichthyosiform Erythroderma Type 1 73
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 71
Ichthyosis, Congenital, Autosomal Recessive, Type 2 39
Nonbullous Congenital Ichthyosiform Erythroderma 1 12
Ichthyosiform Erythroderma, Congenital 73
Collodion Baby, Self-Healing 56
Self-Healing Collodion Baby 73
Ncie1, Formerly 56
Iecn1 73
Cie 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
ichthyosis, congenital, autosomal recessive 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ichthyosis, Congenital, Autosomal Recessive 2

OMIM : 56 Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300). (242100)

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 2, also known as autosomal recessive congenital ichthyosis 2, is related to self-improving collodion baby and ichthyosis, congenital, autosomal recessive 1. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 2 is ALOX12B (Arachidonate 12-Lipoxygenase, 12R Type), and among its related pathways/superpathways is Prostaglandin 2 biosynthesis and metabolism FM. The drugs Bezafibrate and Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and liver, and related phenotypes are hypohidrosis and alopecia

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 : 73 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 2 Ichthyosis, Congenital, Autosomal Recessive 1
Ichthyosis, Congenital, Autosomal Recessive 4b Ichthyosis, Congenital, Autosomal Recessive 4a
Ichthyosis, Congenital, Autosomal Recessive 11 Ichthyosis, Congenital, Autosomal Recessive 5
Ichthyosis, Congenital, Autosomal Recessive 3 Ichthyosis, Congenital, Autosomal Recessive 6
Ichthyosis, Congenital, Autosomal Recessive 8 Ichthyosis, Congenital, Autosomal Recessive 7
Ichthyosis, Congenital, Autosomal Recessive 9 Ichthyosis, Congenital, Autosomal Recessive 10
Ichthyosis, Congenital, Autosomal Recessive 12 Ichthyosis, Congenital, Autosomal Recessive 14
Ichthyosis, Congenital, Autosomal Recessive 13 Autosomal Recessive Congenital Ichthyosis
Ichthyosis, Acquired Inherited Ichthyosis
Autosomal Ichthyosis Syndrome

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 self-improving collodion baby 32.5 ALOXE3 ALOX12B
2 ichthyosis, congenital, autosomal recessive 1 31.8 SULT2B1 ALOXE3 ALOX12B
3 autosomal recessive congenital ichthyosis 30.8 SULT2B1 ALOXE3 ALOX12B
4 ectropion 29.4 ALOXE3 ALOX12B
5 ichthyosis 28.9 SULT2B1 ALOXE3 ALOX12B
6 acral self-healing collodion baby 13.0
7 ichthyosis, congenital, autosomal recessive 3 12.1
8 erythroderma, ichthyosiform, congenital reticular 11.6
9 meningitis 10.4
10 hypertelorism 10.2
11 dowling-degos disease 1 10.2
12 chromosome 2q35 duplication syndrome 10.2
13 brachydactyly 10.2
14 keratosis 10.2
15 skin atrophy 10.2
16 alopecia 10.2
17 neuroblastoma 10.2
18 bacterial meningitis 10.2
19 haemophilus influenzae 10.2
20 alcohol dependence 10.1
21 epidermolytic hyperkeratosis 10.1
22 withdrawal disorder 10.1
23 colitis 10.1
24 bubonic plague 10.1
25 tetanus 10.1
26 aseptic meningitis 10.1
27 diarrhea 10.1
28 cholera 10.1
29 rhabdomyosarcoma 10.1
30 plague 10.1
31 pleural empyema 10.1
32 liver disease 10.1
33 peritonitis 10.1
34 autoimmune gastrointestinal dysmotility 10.1
35 ichthyosis, congenital, autosomal recessive 7 9.5 ALOXE3 ALOX12B
36 ichthyosis, congenital, autosomal recessive 4b 9.4 ALOXE3 ALOX12B
37 ichthyosis, x-linked 9.4 ALOXE3 ALOX12B
38 eyelid disease 9.3 ALOXE3 ALOX12B
39 ichthyosis vulgaris 9.2 ALOXE3 ALOX12B

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

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

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hypohidrosis 31 hallmark (90%) HP:0000966
2 alopecia 31 occasional (7.5%) HP:0001596
3 small nail 31 occasional (7.5%) HP:0001792
4 erythema 31 occasional (7.5%) HP:0010783
5 everted lower lip vermilion 31 occasional (7.5%) HP:0000232
6 short toe 31 occasional (7.5%) HP:0001831
7 short finger 31 occasional (7.5%) HP:0009381
8 ectropion 31 occasional (7.5%) HP:0000656
9 thin nail 31 occasional (7.5%) HP:0001816
10 intellectual disability 31 HP:0001249
11 palmoplantar keratoderma 31 HP:0000982
12 growth delay 31 HP:0001510
13 paralysis 31 HP:0003470
14 external genital hypoplasia 31 HP:0003241
15 epidermal acanthosis 31 HP:0025092
16 congenital nonbullous ichthyosiform erythroderma 31 HP:0007479
17 congenital ichthyosiform erythroderma 31 HP:0007431
18 abnormal hair morphology 31 HP:0001595
19 hypergranulosis 31 HP:0025114

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin Histology:
hyperkeratosis
acanthosis
thickened stratum corneum
hypergranulosis, mild

Skin Nails Hair Nails:
hypoplastic nails (in some patients)
thin nails (rare)

Head And Neck Mouth:
eclabium (in some patients)

Skeletal Feet:
hypoplastic toes (in some cases)

Skin Nails Hair Hair:
alopecia, mild diffuse (rare)

Skin Nails Hair Skin:
palmoplantar keratoderma, mild
collodion membrane at birth (in some patients)
collodion membrane, self-healing (in some patients)
erythema, mild to moderate (in some patients)
fine white or light brown scales on scalp, face, trunk, and limbs
more
Head And Neck Eyes:
ectropion (in some patients)

Skeletal Hands:
hypoplastic fingers (in some cases)

Skin Nails Hair Skin Electron Microscopy:
cornified cell envelope

Clinical features from OMIM:

242100

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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
2 Hypolipidemic Agents Phase 4
3 Anticholesteremic Agents Phase 4
4 Clofibric Acid Phase 4 882-09-7
5 Lipid Regulating Agents Phase 4
6 Antimetabolites Phase 4
7
Isotretinoin Approved Phase 2 4759-48-2 5538 5282379
8 Dermatologic Agents Phase 2
9 Antibodies, Monoclonal Phase 2
10 Immunologic Factors Phase 2
11 Immunoglobulins Phase 2
12 Antibodies Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
2 TREATMENT OF THE RECESSIVE NONBULLOUS CONGENITAL ICHTHYOSIS BY THE EPIGALLOCATECHINE CUTANEOUS Unknown status NCT01222000 Phase 3 apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side;apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side
3 A Randomized, Bilateral Comparison, Vehicle-Controlled, Safety and Tolerability Study of Topical PAT-001 for the Treatment of Congenital Ichthyosis Completed NCT02864082 Phase 2 PAT-001, 0.1%;PAT-001, 0.2%;Vehicle
4 A Randomized, Parallel, Double-Blind, Vehicle Controlled Study to Evaluate the Safety and Efficacy of Two Concentrations of Topical TMB-001 for the Treatment of Congenital Ichthyosis Recruiting NCT04154293 Phase 2 Isotretinoin
5 A Phase I/II Clinical Trial of Topical KB105, a Replication-incompetent, Non-integrating HSV-1 Vector Expressing Human Transglutaminase 1 (TGM1) for the Treatment of TGM1-deficient Autosomal Recessive Congenital Ichthyosis (ARCI) Recruiting NCT04047732 Phase 1, Phase 2
6 A Multicenter Study With a Randomized, Double-Blind, Placebo-Controlled Period, Followed by an Open-Label Maintenance Dosing Period to Evaluate the Efficacy and Safety of Secukinumab in Patients With Ichthyoses Active, not recruiting NCT03041038 Phase 2 Secukinumab;Placebo
7 Prospective Evaluation of Infants and Children With Congenital Ichthyosis Recruiting NCT02655861
8 International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Recruiting NCT02918032
9 Clinical Study on the Safety and Efficacy of Medium-chain Fatty Acid Capsules (CNT-02) for Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Neutral Lipid Storage Disease With Myopathy (NLSD-M) Terminated NCT02830763

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:

# Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis 2 29 ALOX12B ALOXE3

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 2

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

40
Skin, Eye, Liver

Publications for Ichthyosis, Congenital, Autosomal Recessive 2

Articles related to Ichthyosis, Congenital, Autosomal Recessive 2:

(show all 14)
# Title Authors PMID Year
1
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 56 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. 56 6
19131948 2009
3
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. 56 6
18347291 2008
4
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. 56 6
17139268 2007
5
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 56 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. 56 6
11773004 2002
7
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 56
20643494 2010
8
Autosomal recessive congenital ichthyosis. 56
19434086 2009
9
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. 56
16436457 2006
10
The lipoxygenase gene ALOXE3 implicated in skin differentiation encodes a hydroperoxide isomerase. 56
12881489 2003
11
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. 56
12780701 2003
12
Autosomal Recessive Congenital Ichthyosis 6
20301593 2001
13
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. 56
10712205 2000
14
Vitamin D: A New Promising Therapy for Congenital Ichthyosis. 61
26721572 2016

Variations for Ichthyosis, Congenital, Autosomal Recessive 2

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

6 (show all 38) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALOX12B NM_001139.3(ALOX12B):c.1389del (p.Phe463fs)deletion Pathogenic 6082 rs387906349 17:7979636-7979636 17:8076318-8076318
2 ALOX12B NM_001139.3(ALOX12B):c.1277T>C (p.Leu426Pro)SNV Pathogenic 6083 rs137853023 17:7980060-7980060 17:8076742-8076742
3 ALOX12B NM_001139.3(ALOX12B):c.1734C>A (p.His578Gln)SNV Pathogenic 6084 rs137853024 17:7976996-7976996 17:8073678-8073678
4 ALOX12B NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp)SNV Pathogenic 39538 rs397514526 17:7989346-7989346 17:8086028-8086028
5 ALOX12B NM_001139.3(ALOX12B):c.2036G>T (p.Arg679Leu)SNV Pathogenic 39540 rs397514528 17:7976159-7976159 17:8072841-8072841
6 ALOX12B NM_001139.3(ALOX12B):c.1180G>A (p.Glu394Lys)SNV Pathogenic 39541 rs397514529 17:7980403-7980403 17:8077085-8077085
7 ALOX12B NM_001139.3(ALOX12B):c.1207C>T (p.His403Tyr)SNV Pathogenic 39543 rs397514531 17:7980376-7980376 17:8077058-8077058
8 ALOX12B NM_001139.3(ALOX12B):c.353-1G>ASNV Pathogenic 39544 17:7984506-7984506 17:8081188-8081188
9 ALOX12B NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)SNV Pathogenic 39546 rs199766569 17:7979005-7979005 17:8075687-8075687
10 ALOX12B NM_001139.3(ALOX12B):c.199A>T (p.Ile67Phe)SNV Pathogenic 39547 rs397514533 17:7989487-7989487 17:8086169-8086169
11 SULT2B1 NM_177973.2(SULT2B1):c.71+2T>ASNV Pathogenic 426110 rs1114167426 19:49055582-49055582 19:48552325-48552325
12 SULT2B1 NM_177973.2(SULT2B1):c.364dup (p.Met122fs)duplication Pathogenic 426109 rs1114167425 19:49090634-49090635 19:48587377-48587378
13 SULT2B1 NM_177973.2(SULT2B1):c.821G>A (p.Arg274Gln)SNV Pathogenic 426108 rs762765702 19:49100171-49100171 19:48596914-48596914
14 ALOX12B NM_001139.3(ALOX12B):c.1350dup (p.Leu451fs)duplication Pathogenic 633827 rs746723399 17:7979986-7979987 17:8076668-8076669
15 ALOX12B NM_001139.3(ALOX12B):c.286_287dup (p.Tyr97fs)duplication Pathogenic 633825 rs1567985261 17:7989398-7989399 17:8086080-8086081
16 ALOXE3 NM_001165960.1(ALOXE3):c.1230C>A (p.Tyr410Ter)SNV Pathogenic 633811 rs765682032 17:8014800-8014800 17:8111482-8111482
17 ALOXE3 NM_001165960.1(ALOXE3):c.702T>A (p.Tyr234Ter)SNV Pathogenic 633810 rs1568005543 17:8020140-8020140 17:8116822-8116822
18 ALOX12B NM_001139.3(ALOX12B):c.147+1_353-1deldeletion Pathogenic 633823 17:7984506-7990613
19 ALOX12B NM_001139.3(ALOX12B):c.435-2A>GSNV Pathogenic 803318 17:7984296-7984296 17:8080978-8080978
20 ALOX12B NM_001139.3(ALOX12B):c.527+2T>GSNV Pathogenic/Likely pathogenic 437455 rs1555643304 17:7984200-7984200 17:8080882-8080882
21 ALOX12B NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)SNV Pathogenic/Likely pathogenic 39545 rs397514532 17:7978925-7978925 17:8075607-8075607
22 ALOX12B NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter)SNV Pathogenic/Likely pathogenic 39539 rs397514527 17:7980043-7980043 17:8076725-8076725
23 ALOX12B NM_001139.3(ALOX12B):c.353-2A>GSNV Likely pathogenic 437467 rs775524204 17:7984507-7984507 17:8081189-8081189
24 ALOX12B NM_001139.3(ALOX12B):c.338T>C (p.Leu113Pro)SNV Likely pathogenic 633820 rs1567985231 17:7989348-7989348 17:8086030-8086030
25 ALOX12B NM_001139.3(ALOX12B):c.1325G>T (p.Arg442Leu)SNV Likely pathogenic 633821 rs1028050037 17:7980012-7980012 17:8076694-8076694
26 ALOX12B NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu)SNV Likely pathogenic 633819 rs1567985822 17:7990678-7990678 17:8087360-8087360
27 ALOXE3 NM_001165960.1(ALOXE3):c.2461C>T (p.Arg821Trp)SNV Likely pathogenic 633813 rs1311967606 17:8000016-8000016 17:8096698-8096698
28 ALOXE3 NM_001165960.1(ALOXE3):c.1604A>G (p.His535Arg)SNV Likely pathogenic 633812 rs1296095311 17:8013507-8013507 17:8110189-8110189
29 ALOX12B NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met)SNV Likely pathogenic 212729 rs199545653 17:7978988-7978988 17:8075670-8075670
30 ALOX12B NM_001139.3(ALOX12B):c.1697A>G (p.Tyr566Cys)SNV Likely pathogenic 633824 rs1567980596 17:7977033-7977033 17:8073715-8073715
31 ALOX12B NM_001139.3(ALOX12B):c.1349G>T (p.Gly450Val)SNV Uncertain significance 633822 rs772257172 17:7979988-7979988 17:8076670-8076670
32 ALOX12B NM_001139.3(ALOX12B):c.787T>C (p.Phe263Leu)SNV Uncertain significance 633826 rs1567982884 17:7983227-7983227 17:8079909-8079909
33 ALOX12B NM_001139.3(ALOX12B):c.1958T>G (p.Phe653Cys)SNV Uncertain significance 800984 17:7976237-7976237 17:8072919-8072919
34 ALOX12B NM_001139.3(ALOX12B):c.1214T>G (p.Ile405Ser)SNV Uncertain significance 623357 rs369593974 17:7980369-7980369 17:8077051-8077051
35 ALOX12B NM_001139.3(ALOX12B):c.628_630TTC[1] (p.Phe211del)short repeat Uncertain significance 623358 17:7983993-7983995 17:8080675-8080677
36 ALOX12B NM_001139.3(ALOX12B):c.235A>T (p.Lys79Ter)SNV Uncertain significance 632293 rs1567985312 17:7989451-7989451 17:8086133-8086133
37 ALOX12B NM_001139.3(ALOX12B):c.928-2A>GSNV Uncertain significance 632292 rs1567982673 17:7982859-7982859 17:8079541-8079541
38 ALOX12B NM_001139.3(ALOX12B):c.410T>A (p.Ile137Asn)SNV Uncertain significance 39542 rs397514530 17:7984448-7984448 17:8081130-8081130

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

73 (show all 18)
# 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 rs103939960
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

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:

# Super pathways Score Top Affiliating Genes
1 9.98 ALOXE3 ALOX12B

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 2

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.58 SULT2B1 ALOXE3 ALOX12B
2 fatty acid metabolic process GO:0006631 9.46 ALOXE3 ALOX12B
3 sphingolipid metabolic process GO:0006665 9.43 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 Ichthyosis, Congenital, Autosomal Recessive 2 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 Ichthyosis, Congenital, Autosomal Recessive 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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