MCID: ATS013
MIFTS: 62

Autosomal Recessive Congenital Ichthyosis

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

Aliases & Classifications for Autosomal Recessive Congenital Ichthyosis

MalaCards integrated aliases for Autosomal Recessive Congenital Ichthyosis:

Name: Autosomal Recessive Congenital Ichthyosis 12 25 38 15
Lamellar Ichthyosis 12 77 54 26 60 30 6
Congenital Ichthyosiform Erythroderma 54 26 30 6
Congenital Nonbullous Ichthyosiform Erythroderma 26 30 6
Li 54 26 60
Congenital Non-Bullous Ichthyosiform Erythroderma 54 60
Non-Bullous Congenital Ichthyosiform Erythroderma 54 60
Nonbullous Congenital Ichthyosiform Erythroderma 54 26
Congenital Lamellar Ichthyosis 54 60
Erythrodermic Ichthyosis 54 60
Ichthyosis, Lamellar 26 45
Nbcie 54 26
Ncie 54 26
Cie 54 60
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form 54
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 54
Non Bullous Congenital Ichthyosiform Erythroderma 12
Ichthyosiform Erythroderma Nonbullous Congenital 56
Ichthyosiform Erythroderma, Congenital 45
Nonbullous Ichthyosiform Erythroderma 26
Classic Lamellar Ichthyosis 60
Collodion Baby Syndrome 26
Ichthyoses, Lamellar 26
Collodion Baby 26
Arci 12
Nbie 26

Characteristics:

Orphanet epidemiological data:

60
lamellar ichthyosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: early childhood;
congenital non-bullous ichthyosiform erythroderma
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:



Summaries for Autosomal Recessive Congenital Ichthyosis

Genetics Home Reference : 26 Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. This membrane usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward. People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin on most of their body. Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems. Affected individuals may also have hair loss (alopecia), abnormally formed fingernails and toenails (nail dystrophy), a decreased ability to sweat (hypohidrosis), an increased sensitivity to heat, and a thickening of the skin on the palms of the hands and soles of the feet (keratoderma). Less frequently, affected individuals have reddened skin (erythema) and joint deformities (contractures).

MalaCards based summary : Autosomal Recessive Congenital Ichthyosis, also known as lamellar ichthyosis, is related to ichthyosis, congenital, autosomal recessive 4a and ichthyosis, congenital, autosomal recessive 2. An important gene associated with Autosomal Recessive Congenital Ichthyosis is ALOX12B (Arachidonate 12-Lipoxygenase, 12R Type), and among its related pathways/superpathways are Arachidonic acid metabolism and Keratinization. The drugs Liarozole and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and brain, and related phenotypes are ichthyosis and abnormality of the nail

Disease Ontology : 12 An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.

NIH Rare Diseases : 54 Lamellar ichthyosis is a rare genetic condition that affects the skin. Infants affected by lamellar ichthyosis are generally born with a shiny, waxy layer of skin (called a collodian membrane) that is typically shed within the first two weeks of life. The skin beneath the collodian membrane is red and scaly. Other signs and symptoms of the condition may include ectropion, lips that turn outwards, hair loss, palmoplantar hyperkeratosis (thick skin on the palms of the hands and/or soles of the feet), nail abnormalities, dehydration and respiratory problems. Although the condition may be caused by changes (mutations) in one of several different genes, approximately 90% of cases are caused by mutations in the TGM1 gene. Lamellar ichthyosis is generally inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

Wikipedia : 77 Lamellar ichthyosis, also known as ichthyosis lamellaris and nonbullous congenital ichthyosis, is a rare... more...

GeneReviews: NBK1420

Related Diseases for Autosomal Recessive Congenital Ichthyosis

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

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

(show top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 4a 33.7 ABCA12 TGM1
2 ichthyosis, congenital, autosomal recessive 2 33.7 ALOX12B ALOXE3 LOR SPINK5 SULT2B1 TGM1
3 ichthyosis, congenital, autosomal recessive 1 33.6 ABCA12 ALOX12B ALOXE3 CYP4F22 NIPAL4 SDR9C7
4 ichthyosis, congenital, autosomal recessive 7 33.6 SDR9C7 ST14
5 ichthyosis, congenital, autosomal recessive 4b 33.5 ABCA12 ALOX12B ALOXE3 CYP4F22 NIPAL4 TGM1
6 ichthyosis vulgaris 32.9 ALOX12B ALOXE3 LOR SPINK5 TGM1
7 ectropion 31.3 ABCA12 TGM1
8 ichthyosis 31.0 ABCA12 ALOX12B ALOXE3 CERS3 CYP4F22 LIPN
9 self-improving collodion baby 30.6 ALOX12B ALOXE3 TGM1
10 skin disease 30.3 ABCA12 ALOX12B LOR SPINK5 TGM1
11 ichthyosis, congenital, autosomal recessive 3 12.2
12 ichthyosis, congenital, autosomal recessive 9 12.2
13 ichthyosis, congenital, autosomal recessive 10 12.2
14 ichthyosis, congenital, autosomal recessive 6 12.2
15 ichthyosis, congenital, autosomal recessive 8 12.2
16 ichthyosis, congenital, autosomal recessive 5 12.1
17 ichthyosis, congenital, autosomal recessive 11 12.0
18 ichthyosis, congenital, autosomal recessive 13 12.0
19 ichthyosis, congenital, autosomal recessive 14 12.0
20 ichthyosis, cyclic, with epidermolytic hyperkeratosis 11.6
21 ichthyosis bullosa of siemens 11.6
22 ichthyosis lamellar 3 11.6
23 ichthyosis lamellar 2 11.6
24 chanarin-dorfman syndrome 11.5
25 ichthyosis, lamellar, autosomal dominant 11.4
26 ichthyosis, congenital, autosomal recessive 12 11.4
27 erythroderma, ichthyosiform, congenital reticular 11.4
28 ichthyosis hystrix gravior 11.3
29 isotretinoin syndrome 11.2
30 netherton syndrome 11.1
31 ichthyosis prematurity syndrome 11.1
32 ichthyosis lamellar 1 11.0
33 autosomal dominant epidermolytic ichthyosis 10.8
34 open-angle glaucoma 10.4
35 epidermolysis bullosa 10.4
36 rickets 10.3
37 cicatricial ectropion 10.3
38 pseudoainhum 10.3
39 acral self-healing collodion baby 10.3
40 vohwinkel syndrome 10.3 LOR TGM1
41 gaucher's disease 10.3
42 noonan syndrome 1 10.2
43 keratosis, seborrheic 10.2
44 ocular albinism 10.2
45 sarcoma 10.2
46 keratosis 10.2
47 squamous cell carcinoma 10.2
48 malignant fibroxanthoma 10.2
49 melanoma 10.2
50 histiocytoma 10.2

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



Diseases related to Autosomal Recessive Congenital Ichthyosis

Symptoms & Phenotypes for Autosomal Recessive Congenital Ichthyosis

Human phenotypes related to Autosomal Recessive Congenital Ichthyosis:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008064
2 abnormality of the nail 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001597
3 hyperkeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000962
4 pruritus 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000989
5 lack of skin elasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0100679
6 dry skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000958
7 hypohidrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000966
8 hypotrichosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001006
9 aplasia/hypoplasia of the eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0100840
10 sparse hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0008070
11 ectropion 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000656
12 erythroderma 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001019
13 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
14 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
15 abnormality of the helix 60 33 frequent (33%) Frequent (79-30%) HP:0011039
16 palmoplantar keratoderma 60 33 frequent (33%) Frequent (79-30%) HP:0000982
17 corneal erosion 60 33 frequent (33%) Frequent (79-30%) HP:0200020
18 everted lower lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000232
19 alopecia 60 33 frequent (33%) Frequent (79-30%) HP:0001596
20 keratitis 60 33 frequent (33%) Frequent (79-30%) HP:0000491
21 chronic otitis media 60 33 occasional (7.5%) Occasional (29-5%) HP:0000389
22 recurrent respiratory infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0002205
23 abnormality of the dentition 60 33 occasional (7.5%) Occasional (29-5%) HP:0000164
24 short stature 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0004322
25 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
26 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
27 dehydration 60 33 occasional (7.5%) Occasional (29-5%) HP:0001944
28 sepsis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100806
29 gangrene 60 33 occasional (7.5%) Occasional (29-5%) HP:0100758

MGI Mouse Phenotypes related to Autosomal Recessive Congenital Ichthyosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 ABCA12 ALOX12B ALOXE3 CERS3 LIPN NIPA1
2 integument MP:0010771 9.32 ABCA12 ALOX12B ALOXE3 CERS3 NIPAL4 PNPLA1

Drugs & Therapeutics for Autosomal Recessive Congenital Ichthyosis

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liarozole Investigational Phase 2, Phase 3 115575-11-6
2 Hormone Antagonists Phase 2, Phase 3
3 Dermatologic Agents Phase 2, Phase 3
4 Hormones Phase 2, Phase 3
5 Androgens Phase 2, Phase 3
6 Antineoplastic Agents, Hormonal Phase 2, Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
8 Androgen Antagonists Phase 2, Phase 3
9 Cariostatic Agents Phase 3
10 Protective Agents Phase 3
11 Monolaurin Phase 3
12
Ethanol Approved Phase 2 64-17-5 702
13 Trifarotene Investigational Phase 2 895542-09-3
14 Immunoglobulins Phase 2
15 Antibodies, Monoclonal Phase 2
16 Immunologic Factors Phase 2
17 Antibodies Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Efficacy and Safety of Two Doses of Liarozole vs. Placebo for the Treatment of Lamellar Ichthyosis Completed NCT00282724 Phase 2, Phase 3 Liarozole
3 Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis Completed NCT00004690 Phase 3 monolaurin cream
4 A Safety and Tolerability Study of Topical PAT-001 in Congenital Ichthyosis Completed NCT02864082 Phase 2 PAT-001, 0.1%;PAT-001, 0.2%;Vehicle
5 A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS) Completed NCT02402309 Phase 2 Active topical NS2 1% dermatologic cream;Vehicle placebo 0.0% NS2 dermatologic cream
6 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Active, not recruiting NCT03041038 Phase 2 Secukinumab;Placebo
7 A Safety, Efficacy and Systemic Exposure Study of CD5789 Cream in Adults and Adolescents With Lamellar Ichthyosis Not yet recruiting NCT03738800 Phase 2 CD5789 Cream 200 µg/g;CD5789 Cream 100 µg/g;CD5789 Cream Vehicle
8 Study of Scaling Disorders and Other Inherited Skin Diseases Completed NCT00001292
9 A Multi-center, Prospective Evaluation of Infants and Children With Congenital Ichthyosis Recruiting NCT02655861

Search NIH Clinical Center for Autosomal Recessive Congenital Ichthyosis

Cochrane evidence based reviews: ichthyosis, lamellar

Genetic Tests for Autosomal Recessive Congenital Ichthyosis

Genetic tests related to Autosomal Recessive Congenital Ichthyosis:

# Genetic test Affiliating Genes
1 Congenital Nonbullous Ichthyosiform Erythroderma 30
2 Congenital Ichthyosiform Erythroderma 30
3 Lamellar Ichthyosis 30

Anatomical Context for Autosomal Recessive Congenital Ichthyosis

MalaCards organs/tissues related to Autosomal Recessive Congenital Ichthyosis:

42
Skin, Eye, Brain, Testes, Kidney

Publications for Autosomal Recessive Congenital Ichthyosis

Articles related to Autosomal Recessive Congenital Ichthyosis:

(show top 50) (show all 280)
# Title Authors Year
1
Transglutaminase 1 Replacement Therapy Successfully Mitigates the Autosomal Recessive Congenital Ichthyosis Phenotype in Full-Thickness Skin Disease Equivalents. ( 30448383 )
2019
2
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. ( 30600594 )
2019
3
NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy. ( 30741495 )
2019
4
Proteomic manifestations of genetic defects in autosomal recessive congenital ichthyosis. ( 30978464 )
2019
5
Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters. ( 31012992 )
2019
6
Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing. ( 31081706 )
2019
7
Non-invasive analysis of skin mechanical properties in patients with lamellar ichthyosis. ( 30600859 )
2019
8
Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation. ( 30847336 )
2019
9
Congenital lamellar ichthyosis in Tunisia associated with vitamin D rickets caused by a founder nonsense mutation in the TGM1 gene. ( 30968397 )
2019
10
A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene. ( 31020658 )
2019
11
Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis. ( 28906551 )
2018
12
Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis. ( 28983987 )
2018
13
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5. ( 29400301 )
2018
14
Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study. ( 29786154 )
2018
15
ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications. ( 29887490 )
2018
16
Uniparental disomy as a mechanism for CERS3-mutated autosomal recessive congenital ichthyosis. ( 30007077 )
2018
17
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. ( 30011118 )
2018
18
Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan. ( 30268591 )
2018
19
Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families. ( 30578701 )
2018
20
Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients. ( 30655104 )
2018
21
Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients. ( 30693114 )
2018
22
Apremilast Use in a Case of Cicatricial Ectropion Secondary to Severe Lamellar Ichthyosis. ( 29346172 )
2018
23
Pott Disease in a 14-year-old Girl Affected by Congenital Lamellar Ichthyosis Type 3 and Diabetes Mellitus. ( 30166818 )
2018
24
Severe ectropion in lamellar ichthyosis managed medically with oral acitretin. ( 29334142 )
2018
25
Erosive pustular dermatosis of the scalp associated with lamellar ichthyosis successfully treated with dehydrated human amnion/chorion membrane allograft. ( 30510998 )
2018
26
Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis. ( 30302839 )
2018
27
Dry eye and Meibomian gland dysfunction with meibography in patients with lamellar ichthyosis. ( 28645677 )
2018
28
Acral lamellar Ichthyosis - expanding the phenotype of temperature-sensitive keratinization disorders. ( 29194782 )
2018
29
Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis. ( 29396135 )
2018
30
Hyperlipidemia secondary to acitretin therapy for lamellar ichthyosis associated with a NIPAL4 mutation improves on a plant-based diet and relapses on a standard Western diet. ( 29576363 )
2018
31
Lamellar ichthyosis in a female neonate without a collodion membrane. ( 29630152 )
2018
32
Spontaneous subconjunctival abscess in congenital lamellar ichthyosis. ( 29786003 )
2018
33
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations. ( 27449533 )
2017
34
Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis. ( 27735052 )
2017
35
Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis. ( 27769845 )
2017
36
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity. ( 27884779 )
2017
37
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function. ( 28093717 )
2017
38
A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs. ( 28122049 )
2017
39
PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier. ( 28369476 )
2017
40
Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family. ( 28369735 )
2017
41
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. ( 28403545 )
2017
42
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. ( 28575648 )
2017
43
Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis. ( 28833017 )
2017
44
Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes. ( 28875980 )
2017
45
Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis. ( 29624231 )
2017
46
Ectropion Improvement with Topical Tazarotene in Children with Lamellar Ichthyosis. ( 28815772 )
2017
47
Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7. ( 28112794 )
2017
48
Lamellar Ichthyosis in Sub-Saharan Africa: Social Stigmatization and Therapeutic Difficulties. ( 28329203 )
2017
49
Lamellar ichthyosis associated bilateral pseudoainhum of fingers and toes successfully treated with tazarotene. ( 28730635 )
2017
50
A case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease. ( 28747283 )
2017

Variations for Autosomal Recessive Congenital Ichthyosis

ClinVar genetic disease variations for Autosomal Recessive Congenital Ichthyosis:

6 (show top 50) (show all 708)
# 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 NIPAL4 NM_001099287.1(NIPAL4): c.527C> A (p.Ala176Asp) single nucleotide variant Pathogenic rs199422217 GRCh38 Chromosome 5, 157468728: 157468728
3 ABCA12 NM_173076.2(ABCA12): c.7093G> A (p.Asp2365Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs726070 GRCh37 Chromosome 2, 215813331: 215813331
4 ABCA12 NM_173076.2(ABCA12): c.7093G> A (p.Asp2365Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs726070 GRCh38 Chromosome 2, 214948607: 214948607
5 ALOXE3 NM_021628.2(ALOXE3): c.709T> A (p.Leu237Met) single nucleotide variant Uncertain significance rs121434235 GRCh37 Chromosome 17, 8015486: 8015486
6 ALOXE3 NM_021628.2(ALOXE3): c.709T> A (p.Leu237Met) single nucleotide variant Uncertain significance rs121434235 GRCh38 Chromosome 17, 8112168: 8112168
7 TGM1 NM_000359.2(TGM1): c.1223_1227delACACA (p.Asp408Valfs) deletion Pathogenic/Likely pathogenic rs398122905 GRCh37 Chromosome 14, 24727812: 24727816
8 TGM1 NM_000359.2(TGM1): c.1223_1227delACACA (p.Asp408Valfs) deletion Pathogenic/Likely pathogenic rs398122905 GRCh38 Chromosome 14, 24258606: 24258610
9 ALOX12B NM_001139.3(ALOX12B): c.1294C> T (p.Arg432Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs397514527 GRCh37 Chromosome 17, 7980043: 7980043
10 ALOX12B NM_001139.3(ALOX12B): c.1294C> T (p.Arg432Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs397514527 GRCh38 Chromosome 17, 8076725: 8076725
11 ALOX12B NM_001139.3(ALOX12B): c.1642C> T (p.Arg548Trp) single nucleotide variant Pathogenic/Likely pathogenic rs397514532 GRCh37 Chromosome 17, 7978925: 7978925
12 ALOX12B NM_001139.3(ALOX12B): c.1642C> T (p.Arg548Trp) single nucleotide variant Pathogenic/Likely pathogenic rs397514532 GRCh38 Chromosome 17, 8075607: 8075607
13 ALOX12B NM_001139.3(ALOX12B): c.1562A> G (p.Tyr521Cys) single nucleotide variant Pathogenic rs199766569 GRCh37 Chromosome 17, 7979005: 7979005
14 ALOX12B NM_001139.3(ALOX12B): c.1562A> G (p.Tyr521Cys) single nucleotide variant Pathogenic rs199766569 GRCh38 Chromosome 17, 8075687: 8075687
15 TGM1 NM_000359.2(TGM1): c.1621A> C (p.Thr541Pro) single nucleotide variant Pathogenic rs587779765 GRCh37 Chromosome 14, 24724594: 24724594
16 TGM1 NM_000359.2(TGM1): c.1621A> C (p.Thr541Pro) single nucleotide variant Pathogenic rs587779765 GRCh38 Chromosome 14, 24255388: 24255388
17 ABCA12 NM_173076.2(ABCA12): c.821A> G (p.Gln274Arg) single nucleotide variant Benign/Likely benign rs11890468 GRCh37 Chromosome 2, 215910612: 215910612
18 ABCA12 NM_173076.2(ABCA12): c.821A> G (p.Gln274Arg) single nucleotide variant Benign/Likely benign rs11890468 GRCh38 Chromosome 2, 215045888: 215045888
19 ABCA12 NM_173076.2(ABCA12): c.1649A> G (p.Glu550Gly) single nucleotide variant Benign/Likely benign rs16853149 GRCh37 Chromosome 2, 215884068: 215884068
20 ABCA12 NM_173076.2(ABCA12): c.1649A> G (p.Glu550Gly) single nucleotide variant Benign/Likely benign rs16853149 GRCh38 Chromosome 2, 215019344: 215019344
21 ABCA12 NM_173076.2(ABCA12): c.485C> T (p.Ala162Val) single nucleotide variant Uncertain significance rs149399707 GRCh37 Chromosome 2, 215917233: 215917233
22 ABCA12 NM_173076.2(ABCA12): c.485C> T (p.Ala162Val) single nucleotide variant Uncertain significance rs149399707 GRCh38 Chromosome 2, 215052509: 215052509
23 ABCA12 NM_173076.2(ABCA12): c.859C> G (p.Arg287Gly) single nucleotide variant Benign/Likely benign rs11891778 GRCh37 Chromosome 2, 215910574: 215910574
24 ABCA12 NM_173076.2(ABCA12): c.859C> G (p.Arg287Gly) single nucleotide variant Benign/Likely benign rs11891778 GRCh38 Chromosome 2, 215045850: 215045850
25 ABCA12 NM_173076.2(ABCA12): c.6648G> T (p.Arg2216Ser) single nucleotide variant Benign/Likely benign rs145031776 GRCh37 Chromosome 2, 215815807: 215815807
26 ABCA12 NM_173076.2(ABCA12): c.6648G> T (p.Arg2216Ser) single nucleotide variant Benign/Likely benign rs145031776 GRCh38 Chromosome 2, 214951083: 214951083
27 ABCA12 NM_173076.2(ABCA12): c.6306C> T (p.Tyr2102=) single nucleotide variant Benign rs10498027 GRCh37 Chromosome 2, 215820013: 215820013
28 ABCA12 NM_173076.2(ABCA12): c.6306C> T (p.Tyr2102=) single nucleotide variant Benign rs10498027 GRCh38 Chromosome 2, 214955289: 214955289
29 ABCA12 NM_173076.2(ABCA12): c.5400G> A (p.Thr1800=) single nucleotide variant Benign rs16853022 GRCh38 Chromosome 2, 214974846: 214974846
30 ABCA12 NM_173076.2(ABCA12): c.5400G> A (p.Thr1800=) single nucleotide variant Benign rs16853022 GRCh37 Chromosome 2, 215839570: 215839570
31 ABCA12 NM_173076.2(ABCA12): c.4126T> C (p.Leu1376=) single nucleotide variant Benign rs34351934 GRCh38 Chromosome 2, 214986579: 214986579
32 ABCA12 NM_173076.2(ABCA12): c.4126T> C (p.Leu1376=) single nucleotide variant Benign rs34351934 GRCh37 Chromosome 2, 215851303: 215851303
33 ABCA12 NM_173076.2(ABCA12): c.3726G> A (p.Pro1242=) single nucleotide variant Benign/Likely benign rs71428357 GRCh37 Chromosome 2, 215854156: 215854156
34 ABCA12 NM_173076.2(ABCA12): c.3726G> A (p.Pro1242=) single nucleotide variant Benign/Likely benign rs71428357 GRCh38 Chromosome 2, 214989432: 214989432
35 ABCA12 NM_173076.2(ABCA12): c.3033A> G (p.Pro1011=) single nucleotide variant Benign rs10498030 GRCh38 Chromosome 2, 215000851: 215000851
36 ABCA12 NM_173076.2(ABCA12): c.3033A> G (p.Pro1011=) single nucleotide variant Benign rs10498030 GRCh37 Chromosome 2, 215865575: 215865575
37 ABCA12 NM_173076.2(ABCA12): c.2329T> A (p.Ser777Thr) single nucleotide variant Benign rs7560008 GRCh37 Chromosome 2, 215876166: 215876166
38 ABCA12 NM_173076.2(ABCA12): c.2329T> A (p.Ser777Thr) single nucleotide variant Benign rs7560008 GRCh38 Chromosome 2, 215011442: 215011442
39 ABCA12 NM_173076.2(ABCA12): c.2124A> G (p.Ala708=) single nucleotide variant Benign rs10198064 GRCh38 Chromosome 2, 215011647: 215011647
40 ABCA12 NM_173076.2(ABCA12): c.2124A> G (p.Ala708=) single nucleotide variant Benign rs10198064 GRCh37 Chromosome 2, 215876371: 215876371
41 ABCA12 NM_173076.2(ABCA12): c.1892G> A (p.Arg631Gln) single nucleotide variant Benign/Likely benign rs76979001 GRCh37 Chromosome 2, 215880278: 215880278
42 ABCA12 NM_173076.2(ABCA12): c.1892G> A (p.Arg631Gln) single nucleotide variant Benign/Likely benign rs76979001 GRCh38 Chromosome 2, 215015554: 215015554
43 ABCA12 NM_173076.2(ABCA12): c.888G> A (p.Val296=) single nucleotide variant Benign rs17501837 GRCh37 Chromosome 2, 215901774: 215901774
44 ABCA12 NM_173076.2(ABCA12): c.888G> A (p.Val296=) single nucleotide variant Benign rs17501837 GRCh38 Chromosome 2, 215037050: 215037050
45 NIPAL4 NM_001099287.1(NIPAL4): c.-10A> G single nucleotide variant Benign rs1105282 GRCh38 Chromosome 5, 157460125: 157460125
46 NIPAL4 NM_001099287.1(NIPAL4): c.-10A> G single nucleotide variant Benign rs1105282 GRCh37 Chromosome 5, 156887133: 156887133
47 NIPAL4 NM_001099287.1(NIPAL4): c.637A> G (p.Arg213Gly) single nucleotide variant Benign rs6860507 GRCh38 Chromosome 5, 157471682: 157471682
48 NIPAL4 NM_001099287.1(NIPAL4): c.637A> G (p.Arg213Gly) single nucleotide variant Benign rs6860507 GRCh37 Chromosome 5, 156898690: 156898690
49 NIPAL4 NM_001099287.1(NIPAL4): c.1302T> C (p.Val434=) single nucleotide variant Benign rs4704870 GRCh38 Chromosome 5, 157472861: 157472861
50 NIPAL4 NM_001099287.1(NIPAL4): c.1302T> C (p.Val434=) single nucleotide variant Benign rs4704870 GRCh37 Chromosome 5, 156899869: 156899869

Expression for Autosomal Recessive Congenital Ichthyosis

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

Pathways for Autosomal Recessive Congenital Ichthyosis

GO Terms for Autosomal Recessive Congenital Ichthyosis

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

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.35 ABCA12 CYP4F22 LIPN SPINK5 SULT2B1
2 epidermal lamellar body GO:0097209 8.62 ABCA12 SPINK5

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.91 ALOX12B ALOX15B ALOXE3 CYP4F22 SDR9C7
2 fatty acid metabolic process GO:0006631 9.7 ALOX12B ALOXE3 SLC27A4
3 cornification GO:0070268 9.65 LIPN LOR SPINK5 ST14 TGM1
4 ceramide biosynthetic process GO:0046513 9.63 ALOX12B ALOXE3 CERS3
5 arachidonic acid metabolic process GO:0019369 9.61 ALOX12B ALOX15B ALOXE3
6 establishment of skin barrier GO:0061436 9.58 ABCA12 ALOX12B ALOXE3
7 sphingolipid metabolic process GO:0006665 9.55 ALOX12B ALOXE3
8 lipid homeostasis GO:0055088 9.54 ABCA12 PNPLA1
9 linoleic acid metabolic process GO:0043651 9.54 ALOX12B ALOX15B ALOXE3
10 lipoxygenase pathway GO:0019372 9.5 ALOX12B ALOX15B ALOXE3
11 magnesium ion transmembrane transport GO:1903830 9.49 NIPA1 NIPAL4
12 magnesium ion transport GO:0015693 9.48 NIPA1 NIPAL4
13 keratinocyte differentiation GO:0030216 9.35 ABCA12 CERS3 LOR ST14 TGM1
14 hepoxilin biosynthetic process GO:0051122 9.33 ALOX12B ALOX15B ALOXE3
15 lipid metabolic process GO:0006629 9.23 ALOX12B ALOX15B ALOXE3 CERS3 LIPN PNPLA1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.65 ALOX12B ALOX15B ALOXE3 CYP4F22 SDR9C7
2 dioxygenase activity GO:0051213 9.33 ALOX12B ALOX15B ALOXE3
3 magnesium ion transmembrane transporter activity GO:0015095 9.32 NIPA1 NIPAL4
4 iron ion binding GO:0005506 9.26 ALOX12B ALOX15B ALOXE3 CYP4F22
5 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 8.8 ALOX12B ALOX15B ALOXE3

Sources for Autosomal Recessive Congenital Ichthyosis

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