LI
MCID: ATS013
MIFTS: 63

Autosomal Recessive Congenital Ichthyosis (LI)

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 24 37 15
Lamellar Ichthyosis 12 76 53 25 59 29 6
Congenital Ichthyosiform Erythroderma 53 25 29 6
Congenital Nonbullous Ichthyosiform Erythroderma 25 29 6
Li 53 25 59
Congenital Non-Bullous Ichthyosiform Erythroderma 53 59
Non-Bullous Congenital Ichthyosiform Erythroderma 53 59
Nonbullous Congenital Ichthyosiform Erythroderma 53 25
Congenital Lamellar Ichthyosis 53 59
Erythrodermic Ichthyosis 53 59
Ichthyosis, Lamellar 25 44
Nbcie 53 25
Ncie 53 25
Cie 53 59
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form 53
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 53
Non Bullous Congenital Ichthyosiform Erythroderma 12
Ichthyosiform Erythroderma Nonbullous Congenital 55
Ichthyosiform Erythroderma, Congenital 44
Nonbullous Ichthyosiform Erythroderma 25
Classic Lamellar Ichthyosis 59
Collodion Baby Syndrome 25
Ichthyoses, Lamellar 25
Collodion Baby 25
Arci 12
Nbie 25

Characteristics:

Orphanet epidemiological data:

59
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 : 25 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 2 and ichthyosis, congenital, autosomal recessive 1. 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 Immunologic Factors and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and brain, and related phenotypes are failure to thrive and hearing impairment

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 : 53 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 : 76 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 107)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 2 33.5 ALOX12B ALOXE3 LOR SPINK5 SULT2B1 TGM1
2 ichthyosis, congenital, autosomal recessive 1 33.5 ABCA12 ALOX12B ALOXE3 CYP4F22 NIPAL4 SDR9C7
3 ichthyosis, congenital, autosomal recessive 4a 33.5 ABCA12 TGM1
4 ichthyosis, congenital, autosomal recessive 7 33.3 SDR9C7 ST14
5 ichthyosis, congenital, autosomal recessive 4b 33.3 ABCA12 ALOX12B ALOXE3 CYP4F22 NIPAL4 TGM1
6 ichthyosis vulgaris 32.7 ALOX12B ALOXE3 LOR SPINK5 TGM1
7 ichthyosis 31.1 ABCA12 ALOX12B ALOXE3 CASP14 CERS3 CYP4F22
8 ectropion 31.1 ABCA12 TGM1
9 self-improving collodion baby 30.4 ALOX12B ALOXE3 TGM1
10 skin disease 30.2 ABCA12 ALOX12B LOR SPINK5 TGM1
11 ichthyosis, congenital, autosomal recessive 3 12.2
12 ichthyosis, congenital, autosomal recessive 5 12.0
13 ichthyosis, congenital, autosomal recessive 6 12.0
14 ichthyosis, congenital, autosomal recessive 8 12.0
15 ichthyosis, congenital, autosomal recessive 9 12.0
16 ichthyosis, congenital, autosomal recessive 10 12.0
17 ichthyosis, congenital, autosomal recessive 11 12.0
18 ichthyosis, congenital, autosomal recessive 14 11.7
19 ichthyosis, congenital, autosomal recessive 13 11.7
20 ichthyosis bullosa of siemens 11.6
21 ichthyosis lamellar 3 11.6
22 ichthyosis lamellar 2 11.5
23 chanarin-dorfman syndrome 11.4
24 ichthyosis, lamellar, autosomal dominant 11.4
25 ichthyosis, congenital, autosomal recessive 12 11.4
26 erythroderma, ichthyosiform, congenital reticular 11.3
27 ichthyosis hystrix gravior 11.2
28 ichthyosis, cyclic, with epidermolytic hyperkeratosis 11.2
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 cicatricial ectropion 10.3
35 pseudoainhum 10.3
36 acral self-healing collodion baby 10.3
37 rickets 10.3
38 gaucher's disease 10.3
39 epidermolysis bullosa 10.3
40 noonan syndrome 1 10.2
41 ocular albinism 10.2
42 open-angle glaucoma 10.2
43 sarcoma 10.2
44 keratosis 10.2
45 squamous cell carcinoma 10.2
46 malignant fibroxanthoma 10.2
47 melanoma 10.2
48 histiocytoma 10.2
49 fibrous histiocytoma 10.2
50 albinism 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:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
2 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
3 chronic otitis media 59 32 occasional (7.5%) Occasional (29-5%) HP:0000389
4 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
5 abnormality of the helix 59 32 frequent (33%) Frequent (79-30%) HP:0011039
6 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
7 short stature 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0004322
8 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008064
9 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
10 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
11 dehydration 59 32 occasional (7.5%) Occasional (29-5%) HP:0001944
12 abnormality of the nail 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001597
13 hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000962
14 palmoplantar keratoderma 59 32 frequent (33%) Frequent (79-30%) HP:0000982
15 pruritus 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000989
16 lack of skin elasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0100679
17 corneal erosion 59 32 frequent (33%) Frequent (79-30%) HP:0200020
18 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
19 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
20 hypohidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000966
21 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
22 keratitis 59 32 frequent (33%) Frequent (79-30%) HP:0000491
23 hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001006
24 sepsis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100806
25 aplasia/hypoplasia of the eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0100840
26 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
27 ectropion 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000656
28 erythroderma 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001019
29 gangrene 59 32 occasional (7.5%) Occasional (29-5%) HP:0100758

MGI Mouse Phenotypes related to Autosomal Recessive Congenital Ichthyosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 ABCA12 ALOX12B ALOXE3 CASP14 CERS3 LIPN
2 integument MP:0010771 9.36 ABCA12 ALOX12B ALOXE3 CASP14 CERS3 NIPAL4

Drugs & Therapeutics for Autosomal Recessive Congenital Ichthyosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 2
2 Antibodies Phase 2
3 Antibodies, Monoclonal Phase 2
4 Immunoglobulins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Active, not recruiting NCT03041038 Phase 2 Secukinumab;Placebo

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 Lamellar Ichthyosis 29
2 Congenital Nonbullous Ichthyosiform Erythroderma 29
3 Congenital Ichthyosiform Erythroderma 29

Anatomical Context for Autosomal Recessive Congenital Ichthyosis

MalaCards organs/tissues related to Autosomal Recessive Congenital Ichthyosis:

41
Skin, Eye, Brain, Testes, Kidney

Publications for Autosomal Recessive Congenital Ichthyosis

Articles related to Autosomal Recessive Congenital Ichthyosis:

(show top 50) (show all 268)
# Title Authors Year
1
Severe ectropion in lamellar ichthyosis managed medically with oral acitretin. ( 29334142 )
2018
2
Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis. ( 29396135 )
2018
3
Spontaneous subconjunctival abscess in congenital lamellar ichthyosis. ( 29786003 )
2018
4
Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study. ( 29786154 )
2018
5
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5. ( 29400301 )
2018
6
ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications. ( 29887490 )
2018
7
Uniparental disomy as a mechanism for CERS3-mutated autosomal recessive congenital ichthyosis. ( 30007077 )
2018
8
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. ( 30011118 )
2018
9
Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan. ( 30268591 )
2018
10
Apremilast Use in a Case of Cicatricial Ectropion Secondary to Severe Lamellar Ichthyosis. ( 29346172 )
2018
11
Pott Disease in a 14-year-old Girl Affected by Congenital Lamellar Ichthyosis Type 3 and Diabetes Mellitus. ( 30166818 )
2018
12
Erosive pustular dermatosis of the scalp associated with lamellar ichthyosis successfully treated with dehydrated human amnion/chorion membrane allograft. ( 30510998 )
2018
13
Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis. ( 30302839 )
2018
14
Dry eye and Meibomian gland dysfunction with meibography in patients with lamellar ichthyosis. ( 28645677 )
2018
15
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
16
Lamellar ichthyosis in a female neonate without a collodion membrane. ( 29630152 )
2018
17
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. ( 28403545 )
2017
18
Lamellar ichthyosis associated bilateral pseudoainhum of fingers and toes successfully treated with tazarotene. ( 28730635 )
2017
19
A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs. ( 28122049 )
2017
20
Pseudoainhum and autoamputation associated with lamellar ichthyosis. ( 28936990 )
2017
21
Acral lamellar Ichthyosis - expanding the phenotype of temperature-sensitive keratinization disorders. ( 29194782 )
2017
22
Identification of Mutations in SDR9C7 in 6 Families with Autosomal Recessive Congenital Ichthyosis. ( 28906551 )
2017
23
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
24
Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis. ( 28983987 )
2017
25
Ectropion Improvement with Topical Tazarotene in Children with Lamellar Ichthyosis. ( 28815772 )
2017
26
A case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease. ( 28747283 )
2017
27
Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis. ( 29624231 )
2017
28
Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes. ( 28875980 )
2017
29
Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis. ( 27769845 )
2017
30
Whole Exome Sequencing Identified a Novel Frameshift Mutation in SDR9C7 underlying Autosomal Recessive Congenital Ichthyosis in a Pakistani Family. ( 28369735 )
2017
31
Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis. ( 28833017 )
2017
32
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
33
Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis. ( 27735052 )
2017
34
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. ( 28575648 )
2017
35
Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7. ( 28112794 )
2017
36
Lamellar Ichthyosis in Sub-Saharan Africa: Social Stigmatization and Therapeutic Difficulties. ( 28329203 )
2017
37
Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families. ( 27061915 )
2016
38
Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family. ( 26778108 )
2016
39
Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. ( 27538420 )
2016
40
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. ( 26646773 )
2016
41
Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. ( 28173123 )
2016
42
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations. ( 27449533 )
2016
43
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity. ( 27884779 )
2016
44
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. ( 27025581 )
2016
45
Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. ( 26620441 )
2016
46
Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: A report from the National Registry for Ichthyosis and Related Skin Disorders. ( 27085231 )
2016
47
Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy. ( 27237723 )
2016
48
Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis. ( 26990434 )
2016
49
Recurrent Coxsackievirus Infection in a Patient with Lamellar Ichthyosis. ( 26821985 )
2016
50
Lamellar ichthyosis-like eruption associated with ponatinib. ( 27695870 )
2016

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_001139.2(ALOX12B): c.1294C> T (p.Arg432Ter) single nucleotide variant Uncertain significance rs397514527 GRCh37 Chromosome 17, 7980043: 7980043
10 ALOX12B NM_001139.2(ALOX12B): c.1294C> T (p.Arg432Ter) single nucleotide variant Uncertain significance rs397514527 GRCh38 Chromosome 17, 8076725: 8076725
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.1642C> T (p.Arg548Trp) single nucleotide variant Pathogenic rs397514532 GRCh38 Chromosome 17, 8075607: 8075607
13 ALOX12B NM_001139.2(ALOX12B): c.1562A> G (p.Tyr521Cys) single nucleotide variant Pathogenic rs199766569 GRCh37 Chromosome 17, 7979005: 7979005
14 ALOX12B NM_001139.2(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 9.92 ALOX12B ALOX15B ALOXE3 CYP4F22 SDR9C7
2 keratinization GO:0031424 9.78 ABCA12 CASP14 LOR TGM1
3 fatty acid metabolic process GO:0006631 9.71 ALOX12B ALOXE3 SLC27A4
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 lipid metabolic process GO:0006629 9.56 ALOX12B ALOX15B ALOXE3 CERS3 LIPN PNPLA1
8 lipid homeostasis GO:0055088 9.55 ABCA12 PNPLA1
9 keratinocyte differentiation GO:0030216 9.55 ABCA12 CERS3 LOR ST14 TGM1
10 linoleic acid metabolic process GO:0043651 9.54 ALOX12B ALOX15B ALOXE3
11 magnesium ion transmembrane transport GO:1903830 9.51 NIPA1 NIPAL4
12 lipoxygenase pathway GO:0019372 9.5 ALOX12B ALOX15B ALOXE3
13 magnesium ion transport GO:0015693 9.49 NIPA1 NIPAL4
14 hepoxilin biosynthetic process GO:0051122 9.43 ALOX12B ALOX15B ALOXE3
15 cornification GO:0070268 9.1 CASP14 LIPN LOR SPINK5 ST14 TGM1

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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