ARCI1
MCID: ICH047
MIFTS: 51

Ichthyosis, Congenital, Autosomal Recessive 1 (ARCI1)

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

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 1

MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 1:

Name: Ichthyosis, Congenital, Autosomal Recessive 1 56 73 13
Autosomal Recessive Congenital Ichthyosis 1 12 29 6 15
Ichthyosis Congenita Ii 56 73 71
Collodion Fetus 56 73 71
Arci1 56 12 73
Lamellar Exfoliation of Newborn 56 73
Self-Healing Collodion Baby 73 71
Desquamation of Newborn 56 73
Bathing Suit Ichthyosis 12 58
Ichthyosis Congenita 56 73
Shcb 56 73
Icr2 56 73
Ichthyosis, Congenital, Autosomal Recessive 1, with Bathing Suit Distribution 56
Autosomal Recessive Congenital Ichthyosis 1 with Bathing Suit Distribution 73
Autosomal Recessive Congenital Ichthyosis Tgm1-Related 73
Ichthyosis, Congenital, Autosomal Recessive, Type 1 39
Ichthyosis, Lamellar, 1, Formerly; Li1, Formerly 56
Collodion Baby, Self-Healing; Shcb 56
Ichthyosis, Lamellar, 1, Formerly 56
Ichthyosis Congenita Ii; Icr2 56
Collodion Baby, Self-Healing 56
Non-Erythrodermic Ichthyosis 73
Lamellar Ichthyosis 1 73
Congenital Ichthyosis 71
Li1, Formerly 56
Li1 73
Bsi 58

Characteristics:

Orphanet epidemiological data:

58
bathing suit ichthyosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
seasonal variation in severity of skin symptoms reported by some patients


HPO:

31
ichthyosis, congenital, autosomal recessive 1:
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Ichthyosis, Congenital, Autosomal Recessive 1

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

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 1, also known as autosomal recessive congenital ichthyosis 1, is related to self-improving collodion baby and ichthyosis, congenital, autosomal recessive 2, and has symptoms including trichorrhexis invaginata An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 1 is TGM1 (Transglutaminase 1), and among its related pathways/superpathways is Prostaglandin 2 biosynthesis and metabolism FM. The drugs Protective Agents and Monolaurin have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and thyroid, and related phenotypes are scaling skin and epidermal acanthosis

Disease Ontology : 12 An autosomal recessive congenital ichthyosis characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has material basis in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.

UniProtKB/Swiss-Prot : 73 Ichthyosis, congenital, autosomal recessive 1: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 1

Diseases in the Ichthyosis family:

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

Diseases related to Ichthyosis, Congenital, Autosomal Recessive 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 self-improving collodion baby 33.3 TGM1 ALOXE3 ALOX12B
2 ichthyosis, congenital, autosomal recessive 2 32.7 SULT2B1 ALOXE3 ALOX12B
3 ichthyosis, congenital, autosomal recessive 4a 31.0 TGM1 LORICRIN ABCA12
4 ectropion 29.1 TGM1 NIPAL4 CYP4F22 ALOXE3 ALOX12B ABCA12
5 ichthyosis, congenital, autosomal recessive 7 29.1 TGM1 SDR9C7 PNPLA1 NIPAL4 CYP4F22 CERS3
6 ichthyosis, congenital, autosomal recessive 4b 28.7 TGM1 PNPLA1 NIPAL4 LORICRIN CYP4F22 CERS3
7 epidermolytic hyperkeratosis 28.6 TGM1 PNPLA1 NIPAL4 LORICRIN ALOXE3
8 skin disease 28.6 TGM1 LORICRIN ALOX12B ABCA12
9 ichthyosis 27.3 TGM1 SULT2B1 SDR9C7 PNPLA1 NIPAL4 LORICRIN
10 autosomal recessive congenital ichthyosis 25.4 WFDC12 TGM1 SULT2B1 SDR9C7 PNPLA1 NIPAL4
11 keratosis linearis with ichthyosis congenita and sclerosing keratoderma 12.8
12 ichthyosis congenita with biliary atresia 12.5
13 ichthyosis, congenital, autosomal recessive 3 12.1
14 ichthyosis prematurity syndrome 11.8
15 beckwith-wiedemann syndrome 11.8
16 ichthyosis lamellar 1 11.7
17 ichthyosis lamellar 3 11.3
18 ruzicka goerz anton syndrome 11.3
19 acral self-healing collodion baby 11.2
20 ichthyosis, congenital, autosomal recessive 11 11.1
21 ichthyosis, congenital, autosomal recessive 5 11.1
22 ichthyosis, congenital, autosomal recessive 6 11.1
23 ichthyosis, congenital, autosomal recessive 8 11.1
24 ichthyosis, congenital, autosomal recessive 9 11.1
25 ichthyosis, congenital, autosomal recessive 10 11.1
26 ichthyosis, congenital, autosomal recessive 12 11.1
27 keratosis 10.4
28 silver-russell syndrome 10.3
29 diencephalic syndrome 10.3
30 rapidly involuting congenital hemangioma 10.3
31 hypertelorism 10.2
32 dowling-degos disease 1 10.2
33 chromosome 2q35 duplication syndrome 10.2
34 skin atrophy 10.2
35 alopecia 10.2
36 oculoectodermal syndrome 10.2
37 transient neonatal diabetes mellitus 10.2
38 neonatal diabetes mellitus 10.2
39 anhidrosis 10.1
40 tinea profunda 10.1 NIPAL4 ALOXE3
41 palmoplantar keratosis 10.1
42 alacrima, achalasia, and mental retardation syndrome 10.1
43 variola major 10.1
44 osteonecrosis 10.1
45 klebsiella pneumonia 10.1
46 disease of mental health 10.1
47 urticaria 10.1
48 pustulosis of palm and sole 10.1
49 smallpox 10.1
50 seborrheic dermatitis 10.1

Graphical network of the top 20 diseases related to Ichthyosis, Congenital, Autosomal Recessive 1:



Diseases related to Ichthyosis, Congenital, Autosomal Recessive 1

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 1

Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 1:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scaling skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0040189
2 epidermal acanthosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0025092
3 parakeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0001036
4 impaired temperature sensation 58 31 frequent (33%) Frequent (79-30%) HP:0010829
5 ectropion 58 31 frequent (33%) Frequent (79-30%) HP:0000656
6 erythroderma 58 31 frequent (33%) Frequent (79-30%) HP:0001019
7 congenital nonbullous ichthyosiform erythroderma 58 31 frequent (33%) Frequent (79-30%) HP:0007479
8 autoamputation of digits 58 31 frequent (33%) Frequent (79-30%) HP:0007460
9 eclabion 58 31 frequent (33%) Frequent (79-30%) HP:0012472
10 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
11 nail dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008404
12 hypohidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000966
13 multiple joint contractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002828
14 hypotrichosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001006
15 palmoplantar hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000972
16 flexion contracture 31 occasional (7.5%) HP:0001371
17 nail dysplasia 31 occasional (7.5%) HP:0002164
18 ichthyosis 58 Very frequent (99-80%)
19 everted lower lip vermilion 31 HP:0000232
20 thickened skin 58 Very frequent (99-80%)
21 congenital ichthyosiform erythroderma 31 HP:0007431
22 palmoplantar scaling skin 58 Excluded (0%)
23 desquamation of skin soon after birth 31 HP:0007549

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
ectropion

Skeletal Limbs:
joint contractures (in some patients)

Head And Neck Mouth:
eclabium

Skeletal Feet:
digital necrosis (in some patients)

Skin Nails Hair Skin Electron Microscopy:
thickening of cornified cell envelope during keratinization
cholesterol clefts in thickened stratum corneum
broad stratum granulosum
lipid vacuoles in corneocytes

Skin Nails Hair Hair:
alopecia (in some patients)
hypotrichosis (in some patients)

Skin Nails Hair Skin:
erythroderma
collodion membrane at birth (in most patients)
self-healing collodion baby (in some patients)
large dark plate-like scales
fine white scales
more
Head And Neck Face:
taut facial skin

Skeletal Hands:
digital necrosis (in some patients)

Skin Nails Hair Skin Histology:
marked hyperkeratosis
parakeratosis, minimal to none
acanthosis, mild to moderate
lymphocytic infiltrate in upper dermis, mild

Skin Nails Hair Nails:
dystrophic nails (in some patients)

Clinical features from OMIM:

242300

UMLS symptoms related to Ichthyosis, Congenital, Autosomal Recessive 1:


trichorrhexis invaginata

MGI Mouse Phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.17 ABCA12 ALOX12B ALOXE3 CERS3 NIPAL4 PNPLA1

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 1

Drugs for Ichthyosis, Congenital, Autosomal Recessive 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Protective Agents Phase 3
2 Monolaurin Phase 3
3 Cariostatic Agents Phase 3
4
Isotretinoin Approved Phase 2 4759-48-2 5538 5282379
5 Dermatologic Agents Phase 2
6 Antibodies, Monoclonal Phase 2
7 Immunologic Factors Phase 2
8 Immunoglobulins Phase 2
9 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 Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis Completed NCT00004690 Phase 3 monolaurin cream
3 A Randomized, Bilateral Comparison, Vehicle-Controlled, Safety and Tolerability Study of Topical PAT-001 for the Treatment of Congenital Ichthyosis Completed NCT02864082 Phase 2 PAT-001, 0.1%;PAT-001, 0.2%;Vehicle
4 A Randomized, Parallel, Double-Blind, Vehicle Controlled Study to Evaluate the Safety and Efficacy of Two Concentrations of Topical TMB-001 for the Treatment of Congenital Ichthyosis Recruiting NCT04154293 Phase 2 Isotretinoin
5 A Phase I/II Clinical Trial of Topical KB105, a Replication-incompetent, Non-integrating HSV-1 Vector Expressing Human Transglutaminase 1 (TGM1) for the Treatment of TGM1-deficient Autosomal Recessive Congenital Ichthyosis (ARCI) Recruiting NCT04047732 Phase 1, Phase 2
6 A Multicenter Study With a Randomized, Double-Blind, Placebo-Controlled Period, Followed by an Open-Label Maintenance Dosing Period to Evaluate the Efficacy and Safety of Secukinumab in Patients With Ichthyoses Active, not recruiting NCT03041038 Phase 2 Secukinumab;Placebo
7 Assessment of the Risk of Imprinting Defects in Children Born Following Assisted Reproductive Technologies (ART) Completed NCT00773825
8 Standardized Skin Care Regimen in the Diaper Area: a Prospective, Randomized Clinical Study on Skin Barrier Function and Epidermal IL-1α Completed NCT01131403
9 Prospective Evaluation of Infants and Children With Congenital Ichthyosis Recruiting NCT02655861

Search NIH Clinical Center for Ichthyosis, Congenital, Autosomal Recessive 1

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 1

Genetic tests related to Ichthyosis, Congenital, Autosomal Recessive 1:

# Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis 1 29 TGM1

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 1

MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 1:

40
Skin, Eye, Thyroid

Publications for Ichthyosis, Congenital, Autosomal Recessive 1

Articles related to Ichthyosis, Congenital, Autosomal Recessive 1:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. 56 6
21668430 2011
2
Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis. 56 6
19863506 2010
3
Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. 56 6
19500103 2009
4
Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions. 56 6
19212342 2009
5
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. 56 6
18948357 2009
6
The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. 56 6
16977323 2007
7
Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. 56 6
16968736 2006
8
Bathing-suit ichthyosis. A peculiar phenotype of lamellar ichthyosis in South African blacks. 56 6
16280294 2005
9
Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. 56 6
12542526 2003
10
Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis. 56 6
11511296 2001
11
Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis. 56 6
11407995 2001
12
Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene. 56 6
11298529 2001
13
Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. 56 6
11251583 2001
14
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies. 56 6
10914678 2000
15
Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis. 56 6
10232404 1999
16
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. 56 6
9887377 1998
17
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. 56 6
9326318 1997
18
Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: significance for mutant transcript level, TGK immunodetection and activity. 56 6
9359043 1997
19
Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. 56 6
7773290 1995
20
Mutations of keratinocyte transglutaminase in lamellar ichthyosis. 56 6
7824952 1995
21
Topical enzyme-replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase-1-deficient skin grafts. 56
24055110 2013
22
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 56
20643494 2010
23
In this issue: Comments on the proposed term pleomorphic ichthyosis. 56
20814616 2010
24
In this issue: Rapid categorization of mild types of autosomal recessive congenital ichthyosis undergoing a phenotypic shift: should it be called "pleomorphic ichthyosis" or "congenital ichthyosis with mild scaling (CIMS)"? 56
20814617 2010
25
Pleomorphic ichthyosis: proposed name for a heterogeneous group of congenital ichthyoses with phenotypic shifting and mild residual scaling. 56
20814618 2010
26
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 56
19890349 2010
27
Autosomal recessive congenital ichthyosis. 56
19434086 2009
28
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. 56
19131948 2009
29
Rapid detection of homozygous mutations in congenital recessive ichthyosis. 56
18034255 2008
30
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. 56
17557927 2007
31
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. 56
16436457 2006
32
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 56
16116617 2005
33
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. 56
12780701 2003
34
Aberrant lipid organization in stratum corneum of patients with atopic dermatitis and lamellar ichthyosis. 56
11564181 2001
35
Autosomal Recessive Congenital Ichthyosis 6
20301593 2001
36
Eyelid abnormalities in lamellar ichthyoses. 56
11013195 2000
37
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. 56
10712205 2000
38
Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis. 56
10482949 1999
39
Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis. 56
9545389 1998
40
Lamellar ichthyosis is genetically heterogeneous--cases with normal keratinocyte transglutaminase. 56
7594637 1995
41
Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q. 56
7977373 1994
42
The expression of congenital ichthyosiform erythroderma in second trimester fetuses of the same family: morphologic and biochemical studies. 56
3192951 1988
43
Ichthyosis congenita type III. Clinical and ultrastructural characteristics and distinction within the heterogeneous ichthyosis congenita group. 56
3178284 1988
44
A mother and two children with nonbullous congenital ichthyosiform erythroderma. 56
3707173 1986
45
Ichthyosis. Genetic heterogeneity, genodermatoses, and genetic counseling. 56
3707167 1986
46
Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. 56
3977371 1985
47
Autosomal dominant lamellar ichthyosis: a new skin disorder. 56
6499258 1984
48
The ichthyoses--pathogenesis and prenatal diagnosis: a review of recent advances. 56
6208542 1983
49
The ichthyoses--a review. 56
6187784 1983
50
An ichthyosiform dermatosis with clinical forms of congenital ichthyosiform erythroderma and ichthyosis vulgaris. 56
5808058 1969

Variations for Ichthyosis, Congenital, Autosomal Recessive 1

ClinVar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 1:

6 (show top 50) (show all 120) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TGM1 NM_000359.3(TGM1):c.1363T>C (p.Trp455Arg)SNV Pathogenic 217304 rs863223405 14:24727530-24727530 14:24258324-24258324
2 TGM1 TGM1, 1-BP DEL, 4640Tdeletion Pathogenic 12478
3 TGM1 TGM1, IVS5, A-G, -2SNV Pathogenic 12479
4 TGM1 NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)SNV Pathogenic 12484 rs121918717 14:24728926-24728926 14:24259720-24259720
5 TGM1 NM_000359.3(TGM1):c.425G>A (p.Arg142His)SNV Pathogenic 12485 rs121918718 14:24730984-24730984 14:24261778-24261778
6 TGM1 NM_000359.3(TGM1):c.1135G>C (p.Val379Leu)SNV Pathogenic 12486 rs121918720 14:24728305-24728305 14:24259099-24259099
7 TGM1 NM_000359.3(TGM1):c.1147G>A (p.Val383Met)SNV Pathogenic 12488 rs121918722 14:24728293-24728293 14:24259087-24259087
8 TGM1 NM_000359.3(TGM1):c.1166G>A (p.Arg389His)SNV Pathogenic 12489 rs121918723 14:24727873-24727873 14:24258667-24258667
9 TGM1 TGM1, 1-BP DEL, 9008Adeletion Pathogenic 12490
10 TGM1 NM_000359.3(TGM1):c.479C>G (p.Ser160Cys)SNV Pathogenic 12482 rs121918728 14:24730930-24730930 14:24261724-24261724
11 TGM1 NM_000359.3(TGM1):c.1175G>A (p.Gly392Asp)SNV Pathogenic 12493 rs121918726 14:24727864-24727864 14:24258658-24258658
12 TGM1 NM_000359.3(TGM1):c.425G>C (p.Arg142Pro)SNV Pathogenic 12494 14:24730984-24730984 14:24261778-24261778
13 TGM1 NM_000359.3(TGM1):c.857G>A (p.Arg286Gln)SNV Pathogenic 12495 rs121918727 14:24729165-24729165 14:24259959-24259959
14 TGM1 NM_000359.3(TGM1):c.866A>C (p.Asn289Thr)SNV Pathogenic 12498 rs121918730 14:24729156-24729156 14:24259950-24259950
15 TGM1 TGM1, -86C-TSNV Pathogenic 39524
16 TGM1 NM_000359.3(TGM1):c.305A>T (p.Asp102Val)SNV Pathogenic 39525 rs398122901 14:24731254-24731254 14:24262048-24262048
17 TGM1 NM_000359.3(TGM1):c.614T>A (p.Leu205Gln)SNV Pathogenic 39526 rs878853259 14:24729799-24729799 14:24260593-24260593
18 TGM1 NM_000359.3(TGM1):c.826T>A (p.Tyr276Asn)SNV Pathogenic 39527 rs397514523 14:24729196-24729196 14:24259990-24259990
19 TGM1 NM_000359.3(TGM1):c.1304_1308del (p.Phe435fs)deletion Pathogenic 39522 rs398122900 14:24727585-24727589 14:24258379-24258383
20 TGM1 NM_000359.3(TGM1):c.1923_1927+2deldeletion Pathogenic 39534 rs398122902 14:24724176-24724182 14:24254970-24254976
21 TGM1 NM_000359.3(TGM1):c.1331dup (p.Arg445fs)duplication Pathogenic 39535 rs398122903 14:24727561-24727562 14:24258355-24258356
22 TGM1 NM_000359.3(TGM1):c.2278C>T (p.Arg760Ter)SNV Pathogenic 39536 rs398122904 14:24718695-24718695 14:24249489-24249489
23 TGM1 NM_000359.3(TGM1):c.944G>A (p.Arg315His)SNV Pathogenic 39530 rs143473912 14:24728950-24728950 14:24259744-24259744
24 TGM1 NM_000359.3(TGM1):c.132G>A (p.Trp44Ter)SNV Pathogenic 265597 rs886039654 14:24731427-24731427 14:24262221-24262221
25 TGM1 NM_000359.3(TGM1):c.877-2A>GSNV Pathogenic 279911 rs142634031 14:24729019-24729019 14:24259813-24259813
26 TGM1 NM_000359.3(TGM1):c.379C>T (p.Arg127Ter)SNV Pathogenic 279910 rs886041250 14:24731030-24731030 14:24261824-24261824
27 TGM1 NM_000359.3(TGM1):c.184G>T (p.Gly62Ter)SNV Pathogenic 280810 rs886041950 14:24731375-24731375 14:24262169-24262169
28 TGM1 NM_000359.3(TGM1):c.377G>A (p.Arg126His)SNV Pathogenic 279909 rs200491579 14:24731032-24731032 14:24261826-24261826
29 TGM1 NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter)duplication Pathogenic 372530 rs1057517836 14:24731001-24731002 14:24261795-24261796
30 TGM1 NM_000359.3(TGM1):c.427C>T (p.Arg143Cys)SNV Pathogenic 372531 rs531650682 14:24730982-24730982 14:24261776-24261776
31 TGM1 NM_000359.3(TGM1):c.788G>A (p.Trp263Ter)SNV Pathogenic 419403 rs367699137 14:24729234-24729234 14:24260028-24260028
32 SULT2B1 NM_177973.2(SULT2B1):c.446C>T (p.Pro149Leu)SNV Pathogenic 426107 rs1114167424 19:49094888-49094888 19:48591631-48591631
33 TGM1 NM_000359.3(TGM1):c.232C>T (p.Arg78Ter)SNV Pathogenic 449511 rs760429286 14:24731327-24731327 14:24262121-24262121
34 TGM1 NM_000359.3(TGM1):c.160C>T (p.Arg54Ter)SNV Pathogenic 554786 rs140000324 14:24731399-24731399 14:24262193-24262193
35 TGM1 NM_000359.3(TGM1):c.1224_1225CA[1] (p.Thr409fs)short repeat Pathogenic 555175 rs1555306113 14:24727812-24727813 14:24258606-24258607
36 TGM1 NM_000359.3(TGM1):c.1074C>G (p.Ser358Arg)SNV Pathogenic 553856 rs779287673 14:24728366-24728366 14:24259160-24259160
37 TGM1 NM_000359.3(TGM1):c.566dup (p.Ser190fs)duplication Pathogenic 555976 rs1211601030 14:24729846-24729847 14:24260640-24260641
38 TGM1 NM_000359.3(TGM1):c.316C>T (p.Arg106Ter)SNV Pathogenic 558256 rs773303931 14:24731243-24731243 14:24262037-24262037
39 TGM1 NM_000359.3(TGM1):c.1042C>T (p.Arg348Ter)SNV Pathogenic 556205 rs1296165092 14:24728398-24728398 14:24259192-24259192
40 TGM1 NM_000359.3(TGM1):c.1521del (p.Gln508fs)deletion Pathogenic 633792 rs1566377068 14:24724694-24724694 14:24255488-24255488
41 TGM1 NM_000359.3(TGM1):c.1307A>G (p.His436Arg)SNV Pathogenic 633789 rs1381998109 14:24727586-24727586 14:24258380-24258380
42 TGM1 NM_000359.3(TGM1):c.131G>A (p.Trp44Ter)SNV Pathogenic 633816 rs1566381457 14:24731428-24731428 14:24262222-24262222
43 TGM1 NM_000359.3(TGM1):c.1928-1G>ASNV Pathogenic 633793 rs112419023 14:24724031-24724031 14:24254825-24254825
44 TGM1 NM_000359.3(TGM1):c.1298+1G>ASNV Pathogenic 633791 rs1566378425 14:24727740-24727740 14:24258534-24258534
45 TGM1 NM_000359.3(TGM1):c.1054C>G (p.Pro352Ala)SNV Pathogenic 694521 14:24728386-24728386 14:24259180-24259180
46 TGM1 NM_000359.3(TGM1):c.872G>A (p.Gly291Asp)SNV Pathogenic/Likely pathogenic 265269 rs780990272 14:24729150-24729150 14:24259944-24259944
47 TGM1 NM_000359.3(TGM1):c.1417G>A (p.Gly473Ser)SNV Pathogenic/Likely pathogenic 372536 rs904122716 14:24725269-24725269 14:24256063-24256063
48 TGM1 NM_000359.3(TGM1):c.876+2T>CSNV Pathogenic/Likely pathogenic 372533 rs151054393 14:24729144-24729144 14:24259938-24259938
49 TGM1 NM_000359.3(TGM1):c.919C>G (p.Arg307Gly)SNV Pathogenic/Likely pathogenic 372534 rs121918731 14:24728975-24728975 14:24259769-24259769
50 TGM1 NM_000359.3(TGM1):c.790C>T (p.Arg264Trp)SNV Pathogenic/Likely pathogenic 372532 rs201868387 14:24729232-24729232 14:24260026-24260026

UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 1:

73 (show top 50) (show all 65)
# Symbol AA change Variation ID SNP ID
1 TGM1 p.Arg142His VAR_007476 rs121918718
2 TGM1 p.Arg143Cys VAR_007477 rs531650682
3 TGM1 p.Arg143His VAR_007478 rs121918719
4 TGM1 p.Gly218Ser VAR_007479 rs121918732
5 TGM1 p.Val379Leu VAR_007480 rs121918720
6 TGM1 p.Arg396Leu VAR_007481 rs121918721
7 TGM1 p.Ser42Tyr VAR_015220 rs41295338
8 TGM1 p.Arg323Gln VAR_015221 rs121918717
9 TGM1 p.Arg389His VAR_015222 rs121918723
10 TGM1 p.Asp102Val VAR_020918 rs398122901
11 TGM1 p.Asn289Thr VAR_020919 rs121918730
12 TGM1 p.Arg307Trp VAR_020920 rs121918731
13 TGM1 p.Cys53Ser VAR_058638
14 TGM1 p.Gly94Asp VAR_058639 rs121918729
15 TGM1 p.Arg126Cys VAR_058640 rs397514524
16 TGM1 p.Arg126His VAR_058641 rs200491579
17 TGM1 p.Tyr134Cys VAR_058642 rs147916609
18 TGM1 p.Arg142Cys VAR_058643 rs121918716
19 TGM1 p.Arg142Pro VAR_058644
20 TGM1 p.Gly144Glu VAR_058645 rs146524389
21 TGM1 p.Gly144Arg VAR_058646 rs778635368
22 TGM1 p.Ser160Cys VAR_058647 rs121918728
23 TGM1 p.Leu205Gln VAR_058648 rs878853259
24 TGM1 p.Val209Phe VAR_058649
25 TGM1 p.Arg225His VAR_058650 rs549195122
26 TGM1 p.Arg225Pro VAR_058651 rs549195122
27 TGM1 p.Ile243Ser VAR_058652
28 TGM1 p.Pro249Leu VAR_058653
29 TGM1 p.Arg264Gln VAR_058654 rs781006633
30 TGM1 p.Arg264Trp VAR_058655 rs201868387
31 TGM1 p.Ser272Pro VAR_058656 rs764040146
32 TGM1 p.Tyr276Asn VAR_058657 rs397514523
33 TGM1 p.Gly278Arg VAR_058658 rs121918725
34 TGM1 p.Glu285Lys VAR_058659 rs749721551
35 TGM1 p.Arg286Gln VAR_058660 rs121918727
36 TGM1 p.Phe293Val VAR_058661
37 TGM1 p.Ile304Phe VAR_058662 rs753798494
38 TGM1 p.Arg307Gly VAR_058663 rs121918731
39 TGM1 p.Arg315Cys VAR_058664 rs397514525
40 TGM1 p.Arg315His VAR_058665 rs143473912
41 TGM1 p.Arg315Leu VAR_058666 rs143473912
42 TGM1 p.Arg323Trp VAR_058667 rs771820315
43 TGM1 p.Asn330His VAR_058668
44 TGM1 p.Ser331Pro VAR_058669
45 TGM1 p.Trp342Arg VAR_058670
46 TGM1 p.Ser358Arg VAR_058671 rs779287673
47 TGM1 p.Val359Met VAR_058672 rs202037016
48 TGM1 p.Tyr365Asp VAR_058673
49 TGM1 p.Leu366Pro VAR_058674
50 TGM1 p.Gly382Arg VAR_058675

Expression for Ichthyosis, Congenital, Autosomal Recessive 1

Search GEO for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 1.

Pathways for Ichthyosis, Congenital, Autosomal Recessive 1

Pathways related to Ichthyosis, Congenital, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.98 ALOXE3 ALOX12B

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 1

Cellular components related to Ichthyosis, Congenital, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 8.62 TGM1 LORICRIN

Biological processes related to Ichthyosis, Congenital, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.84 SDR9C7 CYP4F22 ALOXE3 ALOX12B
2 lipid metabolic process GO:0006629 9.77 SULT2B1 PNPLA1 CERS3 ALOXE3 ALOX12B
3 keratinization GO:0031424 9.69 TGM1 LORICRIN ABCA12
4 cornification GO:0070268 9.58 TGM1 LORICRIN CERS3
5 lipid homeostasis GO:0055088 9.52 PNPLA1 ABCA12
6 arachidonic acid metabolic process GO:0019369 9.49 ALOXE3 ALOX12B
7 peptide cross-linking GO:0018149 9.48 TGM1 LORICRIN
8 linoleic acid metabolic process GO:0043651 9.46 ALOXE3 ALOX12B
9 lipoxygenase pathway GO:0019372 9.43 ALOXE3 ALOX12B
10 sphingolipid metabolic process GO:0006665 9.43 CERS3 ALOXE3 ALOX12B
11 ceramide biosynthetic process GO:0046513 9.33 CERS3 ALOXE3 ALOX12B
12 hepoxilin biosynthetic process GO:0051122 9.32 ALOXE3 ALOX12B
13 establishment of skin barrier GO:0061436 9.13 ALOXE3 ALOX12B ABCA12
14 keratinocyte differentiation GO:0030216 8.92 TGM1 LORICRIN CERS3 ABCA12

Molecular functions related to Ichthyosis, Congenital, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.46 SDR9C7 CYP4F22 ALOXE3 ALOX12B
2 iron ion binding GO:0005506 9.13 CYP4F22 ALOXE3 ALOX12B
3 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 8.62 ALOXE3 ALOX12B

Sources for Ichthyosis, Congenital, Autosomal Recessive 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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