LI
MCID: ATS013
MIFTS: 66

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 58 36 6 15
Lamellar Ichthyosis 12 74 52 25 58 29 6 32
Congenital Ichthyosiform Erythroderma 52 25 29 6
Congenital Nonbullous Ichthyosiform Erythroderma 25 29 6
Li 52 25 58
Congenital Non-Bullous Ichthyosiform Erythroderma 52 58
Non-Bullous Congenital Ichthyosiform Erythroderma 52 58
Nonbullous Congenital Ichthyosiform Erythroderma 52 25
Congenital Lamellar Ichthyosis 52 58
Erythrodermic Ichthyosis 52 58
Ichthyosis, Lamellar 25 43
Nbcie 52 25
Arci 12 58
Ncie 52 25
Cie 52 58
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form 52
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 52
Non Bullous Congenital Ichthyosiform Erythroderma 12
Ichthyosiform Erythroderma Nonbullous Congenital 54
Ichthyosis, Congenital, Autosomal Recessive 39
Ichthyosiform Erythroderma, Congenital 43
Nonbullous Ichthyosiform Erythroderma 25
Ichthyosiform Erythroderma Congenital 54
Classic Lamellar Ichthyosis 58
Collodion Baby Syndrome 25
Ichthyoses, Lamellar 25
Collodion Baby 25
Nbie 25

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive congenital ichthyosis
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;
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:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


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 1 and ichthyosis, congenital, autosomal recessive 4b. An important gene associated with Autosomal Recessive Congenital Ichthyosis is ALOX12B (Arachidonate 12-Lipoxygenase, 12R Type), and among its related pathways/superpathways are Keratinization and Arachidonic acid metabolism. The drugs Bezafibrate and Clofibric Acid have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and pituitary, 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 : 52 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.

KEGG : 36 Autosomal recessive congenital ichthyoses comprise a heterogeneous group of skin disorders of hyperkeratosis. Two non-syndromic forms are defined including lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NBCIE). LI shows more severe phonotype with tight covering of a newborn that is later replaced by large, dark scales. In contrast, NBCIE shows a more pronounced erythroderma with fine, white scaling.

Wikipedia : 74 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 Inherited Ichthyosis
Autosomal Ichthyosis Syndrome

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

(show top 50) (show all 234)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 1 34.9 TGM1 SULT2B1 SDR9C7 PNPLA1 NIPAL4 LORICRIN
2 ichthyosis, congenital, autosomal recessive 4b 34.7 TGM1 PNPLA1 NIPAL4 LORICRIN CYP4F22 CERS3
3 ichthyosis, congenital, autosomal recessive 7 34.7 TGM1 ST14 SDR9C7 PNPLA1 NIPAL4 LIPN
4 ichthyosis, congenital, autosomal recessive 4a 34.6 TGM1 LORICRIN ABCA12
5 ichthyosis, congenital, autosomal recessive 2 34.6 SULT2B1 ALOXE3 ALOX12B
6 chanarin-dorfman syndrome 33.6 PNPLA1 CERS3 ALOXE3
7 ichthyosis 32.7 TGM1 SULT2B1 ST14 SPINK5 SLC27A4 SDR9C7
8 ectropion 31.8 TGM1 NIPAL4 CYP4F22 ALOXE3 ALOX12B ABCA12
9 self-improving collodion baby 31.7 TGM1 ALOXE3 ALOX12B
10 ichthyosis vulgaris 31.7 TGM1 SPINK5 NIPAL4 LORICRIN CASP14 ALOXE3
11 ichthyosis, x-linked 31.5 TGM1 NIPAL4 ALOXE3 ALOX12B ABCA12
12 skin disease 31.4 TGM1 SPINK5 LORICRIN ALOX12B ABCA12
13 epidermolytic hyperkeratosis 31.3 TGM1 PNPLA1 NIPAL4 LORICRIN ALOXE3
14 erythrokeratodermia variabilis et progressiva 1 31.2 TGM1 NIPAL4 LORICRIN ABCA12
15 vohwinkel syndrome 30.9 TGM1 LORICRIN
16 erythrokeratoderma 30.8 PNPLA1 LORICRIN
17 ichthyosis, congenital, autosomal recessive 9 12.4
18 ichthyosis, congenital, autosomal recessive 3 12.4
19 ichthyosis, congenital, autosomal recessive 10 12.4
20 ichthyosis, congenital, autosomal recessive 6 12.4
21 ichthyosis, congenital, autosomal recessive 8 12.4
22 ichthyosis, congenital, autosomal recessive 5 12.4
23 ichthyosis, congenital, autosomal recessive 11 12.3
24 ichthyosis, congenital, autosomal recessive 13 12.1
25 ichthyosis, congenital, autosomal recessive 14 12.1
26 ichthyosis, cyclic, with epidermolytic hyperkeratosis 11.9
27 ichthyosis, lamellar, autosomal dominant 11.9
28 ichthyosis, congenital, autosomal recessive 12 11.8
29 ichthyosis bullosa of siemens 11.7
30 ichthyosis lamellar 3 11.7
31 ichthyosis prematurity syndrome 11.5
32 erythroderma, ichthyosiform, congenital reticular 11.5
33 ichthyosis hystrix gravior 11.4
34 isotretinoin syndrome 11.3
35 netherton syndrome 11.2
36 eyelid disease 10.8 TGM1 PNPLA1 NIPAL4 CYP4F22 ALOXE3 ALOX12B
37 ainhum 10.7 PNPLA1 NIPAL4 LORICRIN
38 acrokeratosis verruciformis 10.7 NIPAL4 CYP4F22 ALOX12B
39 tinea profunda 10.6 NIPAL4 ALOXE3
40 keratitis-ichthyosis-deafness syndrome, autosomal dominant 10.6 TGM1 CERS3
41 epidermolysis bullosa 10.5
42 restrictive dermopathy, lethal 10.4 SLC27A4 NIPAL4
43 helix syndrome 10.4
44 pseudoainhum 10.4
45 keratosis 10.4
46 rickets 10.4
47 meningitis 10.4
48 gaucher's disease 10.4
49 pituitary adenoma 4, acth-secreting 10.3
50 intraocular pressure quantitative trait locus 10.3

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:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008064
2 abnormality of the nail 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001597
3 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
4 pruritus 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000989
5 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
6 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100679
7 hypohidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000966
8 hypotrichosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001006
9 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
10 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
11 ectropion 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000656
12 erythroderma 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001019
13 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
14 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
15 abnormality of the helix 58 31 frequent (33%) Frequent (79-30%) HP:0011039
16 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
17 palmoplantar keratoderma 58 31 frequent (33%) Frequent (79-30%) HP:0000982
18 corneal erosion 58 31 frequent (33%) Frequent (79-30%) HP:0200020
19 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
20 keratitis 58 31 frequent (33%) Frequent (79-30%) HP:0000491
21 chronic otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000389
22 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
23 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
24 short stature 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0004322
25 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
26 dehydration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001944
27 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
28 gangrene 58 31 occasional (7.5%) Occasional (29-5%) HP:0100758
29 sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100806

MGI Mouse Phenotypes related to Autosomal Recessive Congenital Ichthyosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.83 ABCA12 ALOX12B ALOX15B ALOXE3 CASP14 CERS3
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):

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
2 Clofibric Acid Phase 4 882-09-7
3 Liarozole Investigational Phase 2, Phase 3 115575-11-6
4 Protective Agents Phase 3
5 Monolaurin Phase 3
6 Cariostatic Agents Phase 3
7 Hormone Antagonists Phase 2, Phase 3
8 Androgens Phase 2, Phase 3
9 Antineoplastic Agents, Hormonal Phase 2, Phase 3
10 Androgen Antagonists Phase 2, Phase 3
11 Hormones Phase 2, Phase 3
12
Isotretinoin Approved Phase 2 4759-48-2 5538 5282379
13
Trifarotene Approved, Investigational Phase 2 895542-09-3
14 Antibodies, Monoclonal Phase 2
15 Immunologic Factors Phase 2
16 Immunoglobulins Phase 2
17 Antibodies Phase 2
18 Dermatologic Agents Phase 2
19
Bupropion Approved 34911-55-2, 34841-39-9 444
20
Ketamine Approved, Vet_approved 6740-88-1 3821
21
carbamide peroxide Approved 124-43-6
22
Aspartic acid Approved, Nutraceutical 56-84-8 5960
23 Cytochrome P-450 Enzyme Inhibitors
24 Cytochrome P-450 CYP2D6 Inhibitors
25 Analgesics
26 Anesthetics
27 Analgesics, Opioid
28 Anesthetics, Dissociative
29 N-Methylaspartate
30 Anesthetics, General
31 Excitatory Amino Acid Antagonists
32 Anesthetics, Intravenous
33 Excitatory Amino Acids
34 Anti-Infective Agents, Local
35 Anti-Infective Agents

Interventional clinical trials:

(show all 26)
# 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 Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis Completed NCT00004690 Phase 3 monolaurin cream
4 A Randomized, Double-blind, Placebo-controlled Phase II/III Trial to Evaluate the Efficacy and Safety of 2 Doses of Oral Liarozole (75 mg od and 150 mg od) Given During 12 Weeks in Lamellar Ichthyosis Completed NCT00282724 Phase 2, Phase 3 Liarozole
5 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
6 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
7 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
8 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
9 A Randomized, Double-blind, Vehicle-controlled Study to Evaluate the Safety and Efficacy of 146-9251 Cream Applied Twice-daily for Six Weeks in Subjects With Ichthyosis Vulgaris Active, not recruiting NCT03173547 Phase 2 146-9251 cream;Vehicle cream
10 A Phase 2 Randomized, Multicenter, Doubleblind, Vehicle Controlled, 12 Week, Safety, Efficacy & Systemic Exposure Study Followed by a 12 Week Open-label Extension of CD5789 in Adults and Adolescents With Autosomal Recessive Ichthyosis With Lamellar Scale Not yet recruiting NCT03738800 Phase 2 CD5789 Cream 200 µg/g;CD5789 Cream 100 µg/g;CD5789 Cream Vehicle
11 Open-label, Pilot Study to Assess Cholesterol-Lovastatin Solution in the Treatment of Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
12 A Phase 1, Single Center, Double-blind, Placebo-controlled, Dose Escalating Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Effects of Single Oral Doses of AEF0117 in Healthy Male and Female Subjects Completed NCT03325595 Phase 1 AEF0117;Placebo
13 A Phase 1, Single Center, Double-blind, Placebo-Controlled, Dose Escalating Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Effects of Multiple Oral Doses of AEF0117 in Healthy Male and Female Subjects Completed NCT03443895 Phase 1 AEF0117 oral capsule;Placebo oral capsule
14 Research Registry for Inherited Disorders of Keratinization Unknown status NCT00074685
15 Clinical and Genetic Studies of the Scaling Disorders and Other Selected Genodermatoses Completed NCT00001292
16 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population Completed NCT01016106
17 Assessment of Bupropion on Cognitive Function and Behaviour in Healthy Volunteers Completed NCT00285155 Bupropion
18 Does a Single Intravenous Dose of Ketamine Reduce the Need for Supplemental Opioids in Post-Cesarean Section Patients? Completed NCT00486902 Ketamine;Placebo
19 Prospective Evaluation of Infants and Children With Congenital Ichthyosis Recruiting NCT02655861
20 International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Recruiting NCT02918032
21 Defining the Skin and Blood Biomarkers of Ichthyosis Recruiting NCT03417856
22 Evaluation of the Feasibility and Effect of Therapeutic Education Sessions Using an Internet Application in Hereditary Ichthyosis Recruiting NCT03641261
23 Prevalence of Ophthalmological Abnormalities in Children and Adults Suffering From Hereditary Ichthyosis Recruiting NCT03464994
24 Double Blinded Randomized Clinical Study of Carbamide as Moisturizer in Ichthyosis Vulgaris Enrolling by invitation NCT02978209
25 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
26 Dose Response of Mirtazapine to Methamphetamine Induced Interest, Mood Elevation and Reward Withdrawn NCT00600145 Mirtazapine

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 29
2 Congenital Ichthyosiform Erythroderma 29
3 Lamellar Ichthyosis 29

Anatomical Context for Autosomal Recessive Congenital Ichthyosis

MalaCards organs/tissues related to Autosomal Recessive Congenital Ichthyosis:

40
Skin, Eye, Pituitary, T Cells, Testes, Bone, Brain

Publications for Autosomal Recessive Congenital Ichthyosis

Articles related to Autosomal Recessive Congenital Ichthyosis:

(show top 50) (show all 608)
# Title Authors PMID Year
1
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. 54 61 24 6
18347291 2008
2
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. 54 61 24 6
17139268 2007
3
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 54 61 24 6
16116617 2005
4
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis. 61 24 6
24344921 2014
5
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. 61 24 6
23549421 2013
6
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. 61 24 6
23754960 2013
7
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. 61 24 6
22246504 2012
8
A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. 61 24 6
21439540 2011
9
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 61 24 6
19890349 2010
10
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. 61 24 6
19131948 2009
11
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. 61 24 6
17557927 2007
12
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. 61 24 6
16436457 2006
13
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. 61 24 6
15317751 2004
14
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. 61 24 6
12915478 2003
15
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. 54 24 6
11773004 2002
16
Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus. 61 24 6
10094194 1999
17
Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35. 61 24 6
8845852 1996
18
A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families. 24 6
26691440 2016
19
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. 61 6
28403545 2017
20
Autosomal Recessive Congenital Ichthyosis 61 6
20301593 2001
21
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. 54 61 24
9887377 1998
22
Autosomal dominant lamellar ichthyosis. 61 6
3757302 1986
23
Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7. 61 24
28112794 2017
24
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. 61 24
28093717 2017
25
PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis. 61 24
28248300 2017
26
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity. 61 24
27884779 2017
27
PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides. 61 24
27751867 2017
28
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. 61 24
27025581 2016
29
Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. 61 24
28173123 2016
30
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. 61 24
26578203 2016
31
Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family. 61 24
26778108 2016
32
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. 61 24
26646773 2016
33
Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation. 61 24
26056268 2015
34
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. 61 24
23621129 2013
35
Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain. 61 24
22000705 2012
36
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. 61 24
21668430 2011
37
Malignant skin tumours in patients with inherited ichthyosis. 61 24
21517795 2011
38
Autosomal recessive congenital ichthyosis maps to chromosome 15q26.3 in an isolated aboriginal population from southern Taiwan. 61 24
21093221 2011
39
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. 61 24
20672373 2010
40
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 61 24
20643494 2010
41
Increased melanocytic nevi in patients with inherited ichthyoses: report of a previously undescribed association. 61 24
20561241 2010
42
Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis. 61 24
19863506 2010
43
NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis. 61 24
20016120 2010
44
Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. 61 24
19500103 2009
45
Autosomal recessive congenital ichthyosis. 61 24
19434086 2009
46
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. 61 24
18948357 2009
47
Rapid detection of homozygous mutations in congenital recessive ichthyosis. 6
18034255 2008
48
ABCA12 is the major harlequin ichthyosis gene. 61 24
16902423 2006
49
Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. 61 24
16968736 2006
50
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. 61 24
16007253 2005

Variations for Autosomal Recessive Congenital Ichthyosis

ClinVar genetic disease variations for Autosomal Recessive Congenital Ichthyosis:

6 (show top 50) (show all 364) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TGM1 NM_000359.3(TGM1):c.1621A>C (p.Thr541Pro)SNV Pathogenic 127067 rs587779765 14:24724594-24724594 14:24255388-24255388
2 ALOXE3 NM_001165960.1(ALOXE3):c.2285C>T (p.Pro762Leu)SNV Pathogenic 279677 rs147149459 17:8006708-8006708 17:8103390-8103390
3 PNPLA1 NM_173676.2(PNPLA1):c.-80-20761G>ASNV Pathogenic 625427 rs1182312612 6:36238336-36238336 6:36270559-36270559
4 PNPLA1 NM_173676.2(PNPLA1):c.-80-20769C>ASNV Pathogenic 684637 6:36238328-36238328 6:36270551-36270551
5 PNPLA1 NM_173676.2(PNPLA1):c.-80-20704T>CSNV Pathogenic 684646 6:36238393-36238393 6:36270616-36270616
6 PNPLA1 NM_173676.2(PNPLA1):c.-80-20703C>GSNV Pathogenic 684647 6:36238394-36238394 6:36270617-36270617
7 PNPLA1 NM_173676.2(PNPLA1):c.77A>C (p.His26Pro)SNV Pathogenic 684641 6:36259253-36259253 6:36291476-36291476
8 PNPLA1 NM_173676.2(PNPLA1):c.136A>G (p.Lys46Glu)SNV Pathogenic 684645 6:36259312-36259312 6:36291535-36291535
9 PNPLA1 NM_173676.2(PNPLA1):c.163T>C (p.Cys55Arg)SNV Pathogenic 684639 6:36260847-36260847 6:36293070-36293070
10 PNPLA1 NM_173676.2(PNPLA1):c.179C>T (p.Pro60Leu)SNV Pathogenic 684636 6:36260863-36260863 6:36293086-36293086
11 PNPLA1 NM_173676.2(PNPLA1):c.229G>A (p.Asp77Asn)SNV Pathogenic 684638 6:36261976-36261976 6:36294199-36294199
12 PNPLA1 NM_173676.2(PNPLA1):c.419C>T (p.Pro140Leu)SNV Pathogenic 684644 6:36262166-36262166 6:36294389-36294389
13 PNPLA1 NM_173676.2(PNPLA1):c.1015del (p.Ala339fs)deletion Pathogenic 684640 6:36270158-36270158 6:36302381-36302381
14 TGM1 NM_000359.3(TGM1):c.919C>G (p.Arg307Gly)SNV Pathogenic/Likely pathogenic 372534 rs121918731 14:24728975-24728975 14:24259769-24259769
15 PNPLA1 NM_173676.2(PNPLA1):c.133T>C (p.Ser45Pro)SNV Pathogenic/Likely pathogenic 375256 rs781053760 6:36259309-36259309 6:36291532-36291532
16 PNPLA1 NM_173676.2(PNPLA1):c.50C>A (p.Ser17Tyr)SNV Pathogenic/Likely pathogenic 375258 rs369445146 6:36259226-36259226 6:36291449-36291449
17 ALOX12B NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)SNV Pathogenic/Likely pathogenic 39545 rs397514532 17:7978925-7978925 17:8075607-8075607
18 PNPLA1 NM_173676.2(PNPLA1):c.361T>C (p.Cys121Arg)SNV Likely pathogenic 451071 rs1554138062 6:36262108-36262108 6:36294331-36294331
19 CYP4F22 NM_173483.4(CYP4F22):c.51G>A (p.Thr17=)SNV Conflicting interpretations of pathogenicity 328423 rs147808045 19:15636198-15636198 19:15525387-15525387
20 CYP4F22 NM_173483.4(CYP4F22):c.693C>T (p.Ser231=)SNV Conflicting interpretations of pathogenicity 328435 rs149616338 19:15651282-15651282 19:15540471-15540471
21 ALOX12B NM_001139.3(ALOX12B):c.280G>A (p.Gly94Ser)SNV Conflicting interpretations of pathogenicity 325918 rs8077661 17:7989406-7989406 17:8086088-8086088
22 ALOX12B NM_001139.3(ALOX12B):c.222C>T (p.Tyr74=)SNV Conflicting interpretations of pathogenicity 325919 rs74896368 17:7989464-7989464 17:8086146-8086146
23 ALOXE3 NM_001165960.1(ALOXE3):c.1899G>C (p.Leu633=)SNV Conflicting interpretations of pathogenicity 325968 rs145838099 17:8012551-8012551 17:8109233-8109233
24 ALOXE3 NM_001165960.1(ALOXE3):c.1761G>A (p.Leu587=)SNV Conflicting interpretations of pathogenicity 325969 rs757010758 17:8013261-8013261 17:8109943-8109943
25 ALOXE3 NM_001165960.1(ALOXE3):c.93G>T (p.Gln31His)SNV Conflicting interpretations of pathogenicity 325983 rs79377087 17:8021612-8021612 17:8118294-8118294
26 CYP4F22 NM_173483.4(CYP4F22):c.387T>C (p.Asp129=)SNV Conflicting interpretations of pathogenicity 328428 rs150739429 19:15648191-15648191 19:15537380-15537380
27 ABCA12 NM_173076.3(ABCA12):c.4533A>G (p.Pro1511=)SNV Conflicting interpretations of pathogenicity 334243 rs140742656 2:215846957-215846957 2:214982233-214982233
28 ABCA12 NM_173076.3(ABCA12):c.2945A>C (p.Lys982Thr)SNV Conflicting interpretations of pathogenicity 334253 rs142196906 2:215865663-215865663 2:215000939-215000939
29 ABCA12 NM_173076.3(ABCA12):c.2868T>G (p.Val956=)SNV Conflicting interpretations of pathogenicity 334254 rs141615275 2:215865740-215865740 2:215001016-215001016
30 ABCA12 NM_173076.3(ABCA12):c.2185T>C (p.Leu729=)SNV Conflicting interpretations of pathogenicity 334257 rs149155738 2:215876310-215876310 2:215011586-215011586
31 ABCA12 NM_173076.3(ABCA12):c.1923G>C (p.Leu641=)SNV Conflicting interpretations of pathogenicity 334260 rs79664364 2:215880247-215880247 2:215015523-215015523
32 ABCA12 NM_173076.3(ABCA12):c.1287+9T>CSNV Conflicting interpretations of pathogenicity 334269 rs372326315 2:215890388-215890388 2:215025664-215025664
33 ABCA12 NM_173076.3(ABCA12):c.4707C>T (p.Gly1569=)SNV Conflicting interpretations of pathogenicity 334242 rs202141656 2:215845240-215845240 2:214980516-214980516
34 ABCA12 NM_173076.3(ABCA12):c.6819A>G (p.Val2273=)SNV Conflicting interpretations of pathogenicity 334224 rs139505019 2:215815636-215815636 2:214950912-214950912
35 ABCA12 NM_173076.3(ABCA12):c.4941C>T (p.Ile1647=)SNV Conflicting interpretations of pathogenicity 334239 rs75693572 2:215843564-215843564 2:214978840-214978840
36 ALOXE3 NM_001165960.1(ALOXE3):c.1181-14C>TSNV Conflicting interpretations of pathogenicity 261425 rs113539426 17:8014863-8014863 17:8111545-8111545
37 ALOXE3 NM_001165960.1(ALOXE3):c.1105T>A (p.Leu369Met)SNV Conflicting interpretations of pathogenicity 3410 rs121434235 17:8015486-8015486 17:8112168-8112168
38 ABCA12 NM_173076.3(ABCA12):c.485C>T (p.Ala162Val)SNV Conflicting interpretations of pathogenicity 235587 rs149399707 2:215917233-215917233 2:215052509-215052509
39 ABCA12 NM_173076.3(ABCA12):c.1296A>G (p.Gln432=)SNV Conflicting interpretations of pathogenicity 334268 rs149243979 2:215884512-215884512 2:215019788-215019788
40 ABCA12 NM_173076.3(ABCA12):c.1132T>C (p.Leu378=)SNV Conflicting interpretations of pathogenicity 334273 rs75723433 2:215891592-215891592 2:215026868-215026868
41 ABCA12 NM_173076.3(ABCA12):c.7468T>C (p.Leu2490=)SNV Conflicting interpretations of pathogenicity 334221 rs149561952 2:215802308-215802308 2:214937584-214937584
42 ABCA12 NM_173076.3(ABCA12):c.4225A>G (p.Ile1409Val)SNV Conflicting interpretations of pathogenicity 334245 rs149610963 2:215848528-215848528 2:214983804-214983804
43 NIPAL4 NM_001099287.1(NIPAL4):c.446C>T (p.Thr149Met)SNV Conflicting interpretations of pathogenicity 352509 rs188020393 5:156890324-156890324 5:157463316-157463316
44 PNPLA1 NM_173676.2(PNPLA1):c.459C>T (p.Tyr153=)SNV Conflicting interpretations of pathogenicity 356563 rs139173161 6:36263170-36263170 6:36295393-36295393
45 PNPLA1 NM_173676.2(PNPLA1):c.460G>A (p.Glu154Lys)SNV Conflicting interpretations of pathogenicity 356564 rs45524833 6:36263171-36263171 6:36295394-36295394
46 PNPLA1 NM_173676.2(PNPLA1):c.87C>T (p.Leu29=)SNV Conflicting interpretations of pathogenicity 356556 rs185312959 6:36259263-36259263 6:36291486-36291486
47 PNPLA1 NM_173676.2(PNPLA1):c.342C>T (p.His114=)SNV Conflicting interpretations of pathogenicity 356559 rs187453727 6:36262089-36262089 6:36294312-36294312
48 NIPAL4 NM_001099287.1(NIPAL4):c.521-9G>ASNV Conflicting interpretations of pathogenicity 352513 rs200183918 5:156895721-156895721 5:157468713-157468713
49 NIPAL4 NM_001099287.1(NIPAL4):c.296T>C (p.Val99Ala)SNV Conflicting interpretations of pathogenicity 352506 rs183419459 5:156890174-156890174 5:157463166-157463166
50 PNPLA1 NM_173676.2(PNPLA1):c.528T>A (p.Ile176=)SNV Conflicting interpretations of pathogenicity 356565 rs201231660 6:36269675-36269675 6:36301898-36301898

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 epidermal lamellar body GO:0097209 8.62 SPINK5 ABCA12

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.93 SDR9C7 CYP4F22 ALOXE3 ALOX15B ALOX12B
2 keratinization GO:0031424 9.83 TGM1 LORICRIN CASP14 ABCA12
3 lipid metabolic process GO:0006629 9.76 SULT2B1 SLC27A4 PNPLA1 LIPN CERS3 ALOXE3
4 fatty acid metabolic process GO:0006631 9.73 SLC27A4 ALOXE3 ALOX12B
5 sphingolipid metabolic process GO:0006665 9.69 CERS3 ALOXE3 ALOX12B
6 ceramide biosynthetic process GO:0046513 9.67 CERS3 ALOXE3 ALOX12B
7 arachidonic acid metabolic process GO:0019369 9.65 ALOXE3 ALOX15B ALOX12B
8 establishment of skin barrier GO:0061436 9.63 ALOXE3 ALOX12B ABCA12
9 linoleic acid metabolic process GO:0043651 9.61 ALOXE3 ALOX15B ALOX12B
10 lipoxygenase pathway GO:0019372 9.58 ALOXE3 ALOX15B ALOX12B
11 peptide cross-linking GO:0018149 9.55 TGM1 LORICRIN
12 magnesium ion transmembrane transport GO:1903830 9.54 NIPAL4 NIPAL2 NIPA1
13 magnesium ion transport GO:0015693 9.5 NIPAL4 NIPAL2 NIPA1
14 hepoxilin biosynthetic process GO:0051122 9.43 ALOXE3 ALOX15B ALOX12B
15 keratinocyte differentiation GO:0030216 9.35 TGM1 ST14 LORICRIN CERS3 ABCA12
16 cornification GO:0070268 9.17 TGM1 ST14 SPINK5 LORICRIN LIPN CERS3

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 9.72 SDR9C7 CYP4F22 ALOXE3 ALOX15B ALOX12B
2 iron ion binding GO:0005506 9.46 CYP4F22 ALOXE3 ALOX15B ALOX12B
3 dioxygenase activity GO:0051213 9.43 ALOXE3 ALOX15B ALOX12B
4 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.13 ALOXE3 ALOX15B ALOX12B
5 magnesium ion transmembrane transporter activity GO:0015095 8.8 NIPAL4 NIPAL2 NIPA1

Sources for Autosomal Recessive Congenital Ichthyosis

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