ARCI3
MCID: ICH038
MIFTS: 32

Ichthyosis, Congenital, Autosomal Recessive 3 (ARCI3)

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

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 3

MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 3:

Name: Ichthyosis, Congenital, Autosomal Recessive 3 57 72 13 70
Autosomal Recessive Congenital Ichthyosis 3 12 29 6
Arci3 57 12 72
Lamellar Ichthyosis 5 12 72
Ichthyosis, Congenital, Autosomal Recessive, Type 3 39
Ichthyosis, Lamellar, 5, Formerly; Li5, Formerly 57
Ichthyosis, Lamellar, 5, Formerly 57
Collodion Baby, Self-Healing 57
Self-Healing Collodion Baby 72
Li5, Formerly 57
Li5 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
affected individuals have a relatively mild ichthyosis phenotype


HPO:

31
ichthyosis, congenital, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060711
OMIM® 57 606545
OMIM Phenotypic Series 57 PS242300
MeSH 44 D017490
ICD10 32 Q80.2
UMLS 70 C3539888

Summaries for Ichthyosis, Congenital, Autosomal Recessive 3

OMIM® : 57 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). (606545) (Updated 05-Apr-2021)

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 3, also known as autosomal recessive congenital ichthyosis 3, is related to self-improving collodion baby and ichthyosis, congenital, autosomal recessive 1. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 3 is ALOXE3 (Arachidonate Lipoxygenase 3). Affiliated tissues include skin, and related phenotypes are palmoplantar keratoderma and erythema

Disease Ontology : 12 An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has material basis in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13.

UniProtKB/Swiss-Prot : 72 Ichthyosis, congenital, autosomal recessive 3: 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 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 self-improving collodion baby 11.7
2 ichthyosis, congenital, autosomal recessive 1 11.6
3 acral self-healing collodion baby 11.5
4 ichthyosis, congenital, autosomal recessive 2 11.5
5 ichthyosis 10.5
6 autosomal recessive congenital ichthyosis 10.5
7 ichthyosis lamellar 1 10.5
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 rapidly involuting congenital hemangioma 10.0

Graphical network of the top 20 diseases related to Ichthyosis, Congenital, Autosomal Recessive 3:



Diseases related to Ichthyosis, Congenital, Autosomal Recessive 3

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 3

Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 3:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 31 occasional (7.5%) HP:0000982
2 erythema 31 occasional (7.5%) HP:0010783
3 ectropion 31 occasional (7.5%) HP:0000656
4 eclabion 31 occasional (7.5%) HP:0012472
5 hypohidrosis 31 HP:0000966
6 congenital nonbullous ichthyosiform erythroderma 31 HP:0007479

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
hypohidrosis
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
collodion membrane at birth (in most patients)
more
Head And Neck Mouth:
eclabium (in some patients)

Head And Neck Eyes:
ectropion (in some patients)

Clinical features from OMIM®:

606545 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 3

Search Clinical Trials , NIH Clinical Center for Ichthyosis, Congenital, Autosomal Recessive 3

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 3

Genetic tests related to Ichthyosis, Congenital, Autosomal Recessive 3:

# Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis 3 29 ALOXE3

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 3

MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 3:

40
Skin

Publications for Ichthyosis, Congenital, Autosomal Recessive 3

Articles related to Ichthyosis, Congenital, Autosomal Recessive 3:

(show all 30)
# Title Authors PMID Year
1
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 61 6 57
19890349 2010
2
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. 57 6
19131948 2009
3
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 6 57
16116617 2005
4
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. 57 6
11773004 2002
5
Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. 57 6
11398099 2001
6
Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families. 6
30578701 2019
7
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. 6
27025581 2016
8
Autosomal recessive congenital ichthyoses in the Czech Republic. 6
25998749 2016
9
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 57
20643494 2010
10
Autosomal recessive congenital ichthyosis. 57
19434086 2009
11
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. 57
16436457 2006
12
The lipoxygenase gene ALOXE3 implicated in skin differentiation encodes a hydroperoxide isomerase. 57
12881489 2003
13
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. 57
12780701 2003
14
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. 57
10712205 2000
15
A case of self-improving collodion ichthyosis in Vietnam. 61
32105361 2020
16
Acral self-healing collodion baby. 61
28735267 2017
17
Acral self-healing collodion baby: A case series. 61
28492026 2016
18
Self-healing Collodion Baby: A New Mutation in the ALOX12B Gene. 61
26922124 2016
19
Inherited ichthyosis: Non-syndromic forms. 61
26945532 2016
20
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. 61
26646773 2016
21
Otologic Manifestations of Autosomal Recessive Congenital Ichthyosis in Children. 61
26206273 2015
22
Scanning electron microscopy of the collodion membrane from a self-healing collodion baby. 61
26375232 2015
23
Novel TGM1 missense mutation p.Arg727Gln in a case of self-healing collodion baby. 61
24419105 2014
24
Autosomal recessive congenital ichthyosis. 61
23562412 2013
25
Self-healing collodion baby. 61
20334876 2010
26
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
27
Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. 61
19500103 2009
28
Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. 61
12542526 2003
29
Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma. 61
10508988 1999
30
Self-healing collodion baby: evidence for autosomal recessive inheritance. 61
1603745 1992

Variations for Ichthyosis, Congenital, Autosomal Recessive 3

ClinVar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 3:

6 (show top 50) (show all 117)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALOXE3 NM_001165960.1(ALOXE3):c.830G>A (p.Arg277His) SNV Pathogenic 39550 rs745480657 GRCh37: 17:8018925-8018925
GRCh38: 17:8115607-8115607
2 ALOXE3 NM_001165960.1(ALOXE3):c.814C>T (p.Arg272Ter) SNV Pathogenic 217301 rs370031870 GRCh37: 17:8018941-8018941
GRCh38: 17:8115623-8115623
3 ALOXE3 NM_001165960.1(ALOXE3):c.1894G>T (p.Val632Phe) SNV Pathogenic 3407 rs121434232 GRCh37: 17:8012556-8012556
GRCh38: 17:8109238-8109238
4 ALOXE3 NM_001165960.1(ALOXE3):c.1582C>A (p.Arg528Ser) SNV Pathogenic 3409 rs121434234 GRCh37: 17:8013529-8013529
GRCh38: 17:8110211-8110211
5 ALOXE3 NM_001165960.1(ALOXE3):c.1676T>C (p.Leu559Pro) SNV Pathogenic 39551 rs1355284797 GRCh37: 17:8013435-8013435
GRCh38: 17:8110117-8110117
6 ALOXE3 NM_021628.3(ALOXE3):c.1954C>T (p.Gln652Ter) SNV Pathogenic 973092 GRCh37: 17:8006643-8006643
GRCh38: 17:8103325-8103325
7 ALOXE3 NM_021628.3(ALOXE3):c.1193C>T (p.Ser398Phe) SNV Pathogenic 995448 GRCh37: 17:8013522-8013522
GRCh38: 17:8110204-8110204
8 ALOXE3 NM_021628.3(ALOXE3):c.758del (p.Phe253fs) Deletion Pathogenic 995449 GRCh37: 17:8015437-8015437
GRCh38: 17:8112119-8112119
9 ALOXE3 NM_021628.3(ALOXE3):c.957G>A (p.Glu319=) SNV Pathogenic 995450 GRCh37: 17:8014677-8014677
GRCh38: 17:8111359-8111359
10 ALOXE3 NM_021628.3(ALOXE3):c.327C>A (p.Cys109Ter) SNV Pathogenic 995451 GRCh37: 17:8020119-8020119
GRCh38: 17:8116801-8116801
11 ALOXE3 NM_021628.3(ALOXE3):c.1803_1804dup (p.Met602fs) Duplication Pathogenic 995452 GRCh37: 17:8006792-8006793
GRCh38: 17:8103474-8103475
12 ALOXE3 NM_021628.3(ALOXE3):c.1786-63_1807del Deletion Pathogenic 995453 GRCh37: 17:8006790-8006874
GRCh38: 17:8103472-8103556
13 ALOXE3 NM_021628.3(ALOXE3):c.353-1G>C SNV Pathogenic 995454 GRCh37: 17:8019007-8019007
GRCh38: 17:8115689-8115689
14 ALOXE3 NM_021628.3(ALOXE3):c.1305+1_1305+2delinsTA Indel Pathogenic 995455 GRCh37: 17:8013408-8013409
GRCh38: 17:8110090-8110091
15 ALOXE3 NM_021628.3(ALOXE3):c.38_41del (p.Pro12_Tyr13insTer) Deletion Pathogenic 995456 GRCh37: 17:8021268-8021271
GRCh38: 17:8117950-8117953
16 ALOXE3 NM_021628.3(ALOXE3):c.952dup (p.Leu318fs) Duplication Pathogenic 995457 GRCh37: 17:8014681-8014682
GRCh38: 17:8111363-8111364
17 ALOXE3 NM_021628.3(ALOXE3):c.57_63del (p.Asp20fs) Deletion Pathogenic 995458 GRCh37: 17:8021246-8021252
GRCh38: 17:8117928-8117934
18 ALOXE3 NM_021628.3(ALOXE3):c.397A>G (p.Arg133Gly) SNV Pathogenic 995459 GRCh37: 17:8018962-8018962
GRCh38: 17:8115644-8115644
19 ALOXE3 NM_021628.3(ALOXE3):c.1812T>A (p.Asn604Lys) SNV Pathogenic 995460 GRCh37: 17:8006785-8006785
GRCh38: 17:8103467-8103467
20 ALOXE3 NM_021628.3(ALOXE3):c.271G>T (p.Glu91Ter) SNV Pathogenic 995461 GRCh37: 17:8020175-8020175
GRCh38: 17:8116857-8116857
21 ALOXE3 NM_021628.3(ALOXE3):c.1061G>A (p.Trp354Ter) SNV Pathogenic 995462 GRCh37: 17:8013743-8013743
GRCh38: 17:8110425-8110425
22 ALOXE3 NM_021628.3(ALOXE3):c.833A>G (p.Tyr278Cys) SNV Pathogenic 995463 GRCh37: 17:8014801-8014801
GRCh38: 17:8111483-8111483
23 ALOXE3 NM_021628.3(ALOXE3):c.1292dup (p.His431fs) Duplication Pathogenic 995464 GRCh37: 17:8013422-8013423
GRCh38: 17:8110104-8110105
24 ALOXE3 NM_021628.3(ALOXE3):c.1031_1039del (p.Gln344_Ala347delinsPro) Deletion Pathogenic 995465 GRCh37: 17:8013765-8013773
GRCh38: 17:8110447-8110455
25 ALOXE3 NM_021628.3(ALOXE3):c.923T>C (p.Leu308Pro) SNV Pathogenic 995466 GRCh37: 17:8014711-8014711
GRCh38: 17:8111393-8111393
26 ALOXE3 NM_021628.3(ALOXE3):c.1031A>C (p.Gln344Pro) SNV Pathogenic 995467 GRCh37: 17:8013773-8013773
GRCh38: 17:8110455-8110455
27 ALOXE3 NM_021628.3(ALOXE3):c.1937_1944del (p.Ser646fs) Deletion Pathogenic 995468 GRCh37: 17:8006653-8006660
GRCh38: 17:8103335-8103342
28 ALOXE3 NM_021628.3(ALOXE3):c.1393-1G>A SNV Pathogenic 995469 GRCh37: 17:8012662-8012662
GRCh38: 17:8109344-8109344
29 ALOXE3 NM_021628.3(ALOXE3):c.308A>C (p.Gln103Pro) SNV Pathogenic 995470 GRCh37: 17:8020138-8020138
GRCh38: 17:8116820-8116820
30 ALOXE3 NM_021628.3(ALOXE3):c.1246T>C (p.Cys416Arg) SNV Pathogenic 995471 GRCh37: 17:8013469-8013469
GRCh38: 17:8110151-8110151
31 ALOXE3 NM_021628.3(ALOXE3):c.1164G>T (p.Trp388Cys) SNV Pathogenic 995472 GRCh37: 17:8013551-8013551
GRCh38: 17:8110233-8110233
32 ALOXE3 NM_021628.3(ALOXE3):c.1202T>A (p.Leu401Gln) SNV Pathogenic 995473 GRCh37: 17:8013513-8013513
GRCh38: 17:8110195-8110195
33 ALOXE3 NM_001165960.1(ALOXE3):c.1604A>G (p.His535Arg) SNV Pathogenic 633812 rs1296095311 GRCh37: 17:8013507-8013507
GRCh38: 17:8110189-8110189
34 ALOXE3 NM_021628.2:c.435-?_554+?del Deletion Pathogenic 995474 GRCh37:
GRCh38:
35 ALOXE3 and overlap with 1 gene(s) Deletion Pathogenic 217300 GRCh37: 17:7920611-7925909
GRCh38: 17:8017293-8022591
36 ALOXE3 NM_001165960.1(ALOXE3):c.2182-2A>G SNV Pathogenic 379699 rs139375856 GRCh37: 17:8006813-8006813
GRCh38: 17:8103495-8103495
37 ALOXE3 NM_001165960.1(ALOXE3):c.1027C>T (p.Arg343Ter) SNV Pathogenic 72354 rs141340759 GRCh37: 17:8017851-8017851
GRCh38: 17:8114533-8114533
38 ALOXE3 NM_021628.3(ALOXE3):c.2041C>T (p.Gln681Ter) SNV Pathogenic 997542 GRCh37: 17:8000040-8000040
GRCh38: 17:8096722-8096722
39 ALOXE3 NM_001165960.1(ALOXE3):c.1096C>T (p.Arg366Ter) SNV Pathogenic 3408 rs121434233 GRCh37: 17:8015495-8015495
GRCh38: 17:8112177-8112177
40 ALOXE3 NM_001165960.1(ALOXE3):c.1238G>T (p.Gly413Val) SNV Pathogenic 39548 rs786205120 GRCh37: 17:8014792-8014792
GRCh38: 17:8111474-8111474
41 ALOXE3 NM_001165960.1(ALOXE3):c.2285C>T (p.Pro762Leu) SNV Pathogenic 279677 rs147149459 GRCh37: 17:8006708-8006708
GRCh38: 17:8103390-8103390
42 ALOXE3 NM_021628.3(ALOXE3):c.680+1G>A SNV Pathogenic 982895 GRCh37: 17:8017801-8017801
GRCh38: 17:8114483-8114483
43 ALOXE3 NM_021628.3(ALOXE3):c.3G>A (p.Met1Ile) SNV Pathogenic 1032880 GRCh37: 17:8021306-8021306
GRCh38: 17:8117988-8117988
44 ALOXE3 NM_001165960.1(ALOXE3):c.2404C>T (p.Arg802Trp) SNV Uncertain significance 325957 rs141882639 GRCh37: 17:8000073-8000073
GRCh38: 17:8096755-8096755
45 ALOXE3 NM_001165960.1(ALOXE3):c.2022G>A (p.Glu674=) SNV Uncertain significance 325965 rs139454209 GRCh37: 17:8011844-8011844
GRCh38: 17:8108526-8108526
46 ALOXE3 NM_001165960.1(ALOXE3):c.1899G>C (p.Leu633=) SNV Uncertain significance 325968 rs145838099 GRCh37: 17:8012551-8012551
GRCh38: 17:8109233-8109233
47 ALOXE3 NM_001165960.1(ALOXE3):c.1503C>T (p.Ser501=) SNV Uncertain significance 325971 rs201706020 GRCh37: 17:8013608-8013608
GRCh38: 17:8110290-8110290
48 ALOXE3 NM_001165960.1(ALOXE3):c.1046C>T (p.Thr349Met) SNV Uncertain significance 325975 rs200646727 GRCh37: 17:8017832-8017832
GRCh38: 17:8114514-8114514
49 ALOXE3 NM_021628.3(ALOXE3):c.715C>T (p.Arg239Cys) SNV Uncertain significance 1029817 GRCh37: 17:8015480-8015480
GRCh38: 17:8112162-8112162
50 ALOXE3 NM_021628.3(ALOXE3):c.34C>T (p.Pro12Ser) SNV Uncertain significance 890857 GRCh37: 17:8021275-8021275
GRCh38: 17:8117957-8117957

UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 3:

72
# Symbol AA change Variation ID SNP ID
1 ALOXE3 p.Arg396Ser VAR_015175 rs121434234
2 ALOXE3 p.Val500Phe VAR_015176 rs121434232
3 ALOXE3 p.Leu237Met VAR_069561 rs121434235
4 ALOXE3 p.Gly281Val VAR_069562 rs786205120
5 ALOXE3 p.Leu427Pro VAR_069564 rs135528479
6 ALOXE3 p.Pro630Leu VAR_069565 rs147149459

Expression for Ichthyosis, Congenital, Autosomal Recessive 3

Search GEO for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 3.

Pathways for Ichthyosis, Congenital, Autosomal Recessive 3

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 3

Sources for Ichthyosis, Congenital, Autosomal Recessive 3

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