ARCI1
MCID: ICH047
MIFTS: 53

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 57 75 13
Autosomal Recessive Congenital Ichthyosis 1 12 29 6 15
Ichthyosis Congenita Ii 57 75 73
Collodion Fetus 57 75 73
Arci1 57 12 75
Lamellar Exfoliation of Newborn 57 75
Self-Healing Collodion Baby 75 73
Desquamation of Newborn 57 75
Bathing Suit Ichthyosis 12 59
Ichthyosis Congenita 57 75
Shcb 57 75
Icr2 57 75
Ichthyosis, Congenital, Autosomal Recessive 1, with Bathing Suit Distribution 57
Autosomal Recessive Congenital Ichthyosis 1 with Bathing Suit Distribution 75
Autosomal Recessive Congenital Ichthyosis Tgm1-Related 75
Ichthyosis, Congenital, Autosomal Recessive, Type 1 40
Ichthyosis, Lamellar, 1, Formerly; Li1, Formerly 57
Collodion Baby, Self-Healing; Shcb 57
Ichthyosis, Lamellar, 1, Formerly 57
Ichthyosis Congenita Ii; Icr2 57
Collodion Baby, Self-Healing 57
Non-Erythrodermic Ichthyosis 75
Lamellar Ichthyosis 1 75
Congenital Ichthyosis 73
Li1, Formerly 57
Li1 75
Bsi 59

Characteristics:

Orphanet epidemiological data:

59
bathing suit ichthyosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
ichthyosis, congenital, autosomal recessive 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ichthyosis, Congenital, Autosomal Recessive 1

OMIM : 57 Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). (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 are Steroid hormone biosynthesis and A-beta Signaling Pathways. Affiliated tissues include skin and eye, and related phenotypes are ichthyosis and flexion contracture

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 : 75 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

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 self-improving collodion baby 33.0 TGM1 ALOXE3 ALOX12B
2 ichthyosis, congenital, autosomal recessive 2 32.9 TGM1 SULT2B1 ALOXE3 ALOX12B
3 ichthyosis, congenital, autosomal recessive 4a 31.6 TGM1 ABCA12
4 ichthyosis, congenital, autosomal recessive 7 31.0 ST14 SDR9C7 APPL1
5 ichthyosis, congenital, autosomal recessive 4b 30.8 TGM1 NIPAL4 CYP4F22 ALOXE3 ALOX12B ABCA12
6 ectropion 30.0 TGM1 ABCA12
7 ichthyosis 29.0 TGM1 SULT2B1 STS ST14 SDR9C7 NIPAL4
8 autosomal recessive congenital ichthyosis 28.9 TGM1 SULT2B1 STS ST14 SDR9C7 NIPAL4
9 keratosis linearis with ichthyosis congenita and sclerosing keratoderma 12.7
10 ichthyosis congenita with biliary atresia 12.3
11 ichthyosis, congenital, autosomal recessive 3 12.0
12 ichthyosis prematurity syndrome 11.3
13 ichthyosis lamellar 1 11.1
14 ichthyosis lamellar 2 11.1
15 ichthyosis lamellar 3 11.1
16 ruzicka goerz anton syndrome 11.1
17 acral self-healing collodion baby 11.1
18 ichthyosis, congenital, autosomal recessive 11 11.0
19 ichthyosis, congenital, autosomal recessive 5 11.0
20 ichthyosis, congenital, autosomal recessive 6 11.0
21 ichthyosis, congenital, autosomal recessive 8 11.0
22 ichthyosis, congenital, autosomal recessive 9 11.0
23 ichthyosis, congenital, autosomal recessive 10 11.0
24 ichthyosis, congenital, autosomal recessive 12 11.0
25 hypohidrosis 10.2
26 adamantinoma of long bones 10.1
27 silver-russell syndrome 10.1
28 spondylocarpotarsal synostosis syndrome 10.1
29 bronchiectasis 10.1
30 eyelid disease 10.0 TGM1 ABCA12
31 ichthyosis, x-linked 10.0 TGM1 STS
32 brachydactyly 9.9
33 biliary atresia 9.9
34 keratosis 9.9
35 mastocytosis 9.9
36 lymphangiectasis 9.9
37 chromosome 18p deletion syndrome 9.9 SULT2B1 APPL1
38 ichthyosis vulgaris 9.8 TGM1 STS ALOXE3 ALOX12B
39 multiple sulfatase deficiency 9.8 STS CTSD
40 skin disease 9.7 TGM1 STS ALOX12B ABCA12

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
2 flexion contracture 32 occasional (7.5%) HP:0001371
3 parakeratosis 32 HP:0001036
4 nail dystrophy 32 occasional (7.5%) HP:0008404
5 everted lower lip vermilion 32 HP:0000232
6 alopecia 32 occasional (7.5%) HP:0001596
7 hypotrichosis 32 occasional (7.5%) HP:0001006
8 nail dysplasia 32 occasional (7.5%) HP:0002164
9 ectropion 32 HP:0000656
10 erythroderma 32 HP:0001019
11 epidermal acanthosis 32 HP:0025092
12 palmoplantar hyperkeratosis 32 occasional (7.5%) HP:0000972
13 congenital ichthyosiform erythroderma 32 HP:0007431
14 desquamation of skin soon after birth 32 HP:0007549

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


trichorrhexis invaginata

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.81 ABCA12 ALOX12B ALOXE3 APPL1 CTSD NIPAL4
2 integument MP:0010771 9.5 ABCA12 ALOX12B ALOXE3 CTSD NIPAL4 ST14
3 mortality/aging MP:0010768 9.23 ABCA12 ALOX12B ALOXE3 APPL1 CTSD NIPAL4

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 1

Search Clinical Trials , 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:

41
Skin, Eye

Publications for Ichthyosis, Congenital, Autosomal Recessive 1

Articles related to Ichthyosis, Congenital, Autosomal Recessive 1:

(show all 12)
# Title Authors Year
1
Acral self-healing collodion baby. ( 28735267 )
2017
2
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. ( 26646773 )
2016
3
Acral self-healing collodion baby: A case series. ( 28492026 )
2016
4
Self-healing Collodion Baby: A New Mutation in the ALOX12B Gene. ( 26922124 )
2016
5
Scanning electron microscopy of the collodion membrane from a self-healing collodion baby. ( 26375232 )
2015
6
Novel TGM1 Missense Mutation p.Arg727Gln in a Case of Self-healing Collodion Baby. ( 24419105 )
2014
7
Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis. ( 19863506 )
2010
8
Self-healing collodion baby. ( 20334876 )
2010
9
Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. ( 19500103 )
2009
10
Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. ( 12542526 )
2003
11
Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma. ( 10508988 )
1999
12
Self-healing collodion baby: evidence for autosomal recessive inheritance. ( 1603745 )
1992

Variations for Ichthyosis, Congenital, Autosomal Recessive 1

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

75 (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
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
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

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

6 (show top 50) (show all 199)
# Gene Variation Type Significance SNP ID Assembly Location
1 TGM1 TGM1, 1-BP DEL, 4640T deletion Pathogenic
2 TGM1 TGM1, IVS5, A-G, -2 single nucleotide variant Pathogenic
3 TGM1 NM_000359.2(TGM1): c.125C> A (p.Ser42Tyr) single nucleotide variant Likely benign rs41295338 GRCh37 Chromosome 14, 24731434: 24731434
4 TGM1 NM_000359.2(TGM1): c.125C> A (p.Ser42Tyr) single nucleotide variant Likely benign rs41295338 GRCh38 Chromosome 14, 24262228: 24262228
5 TGM1 NM_000359.2(TGM1): c.428G> A (p.Arg143His) single nucleotide variant Likely pathogenic rs121918719 GRCh37 Chromosome 14, 24730981: 24730981
6 TGM1 NM_000359.2(TGM1): c.428G> A (p.Arg143His) single nucleotide variant Likely pathogenic rs121918719 GRCh38 Chromosome 14, 24261775: 24261775
7 TGM1 NM_000359.2(TGM1): c.479C> G (p.Ser160Cys) single nucleotide variant Pathogenic rs121918728 GRCh37 Chromosome 14, 24730930: 24730930
8 TGM1 NM_000359.2(TGM1): c.479C> G (p.Ser160Cys) single nucleotide variant Pathogenic rs121918728 GRCh38 Chromosome 14, 24261724: 24261724
9 TGM1 NM_000359.2(TGM1): c.424C> T (p.Arg142Cys) single nucleotide variant Likely pathogenic rs121918716 GRCh37 Chromosome 14, 24730985: 24730985
10 TGM1 NM_000359.2(TGM1): c.424C> T (p.Arg142Cys) single nucleotide variant Likely pathogenic rs121918716 GRCh38 Chromosome 14, 24261779: 24261779
11 TGM1 NM_000359.2(TGM1): c.968G> A (p.Arg323Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121918717 GRCh37 Chromosome 14, 24728926: 24728926
12 TGM1 NM_000359.2(TGM1): c.968G> A (p.Arg323Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121918717 GRCh38 Chromosome 14, 24259720: 24259720
13 TGM1 NM_000359.2(TGM1): c.425G> A (p.Arg142His) single nucleotide variant Pathogenic rs121918718 GRCh37 Chromosome 14, 24730984: 24730984
14 TGM1 NM_000359.2(TGM1): c.425G> A (p.Arg142His) single nucleotide variant Pathogenic rs121918718 GRCh38 Chromosome 14, 24261778: 24261778
15 TGM1 NM_000359.2(TGM1): c.1135G> C (p.Val379Leu) single nucleotide variant Pathogenic rs121918720 GRCh37 Chromosome 14, 24728305: 24728305
16 TGM1 NM_000359.2(TGM1): c.1135G> C (p.Val379Leu) single nucleotide variant Pathogenic rs121918720 GRCh38 Chromosome 14, 24259099: 24259099
17 TGM1 NM_000359.2(TGM1): c.1187G> T (p.Arg396Leu) single nucleotide variant Likely pathogenic rs121918721 GRCh37 Chromosome 14, 24727852: 24727852
18 TGM1 NM_000359.2(TGM1): c.1187G> T (p.Arg396Leu) single nucleotide variant Likely pathogenic rs121918721 GRCh38 Chromosome 14, 24258646: 24258646
19 TGM1 NM_000359.2(TGM1): c.1147G> A (p.Val383Met) single nucleotide variant Pathogenic rs121918722 GRCh37 Chromosome 14, 24728293: 24728293
20 TGM1 NM_000359.2(TGM1): c.1147G> A (p.Val383Met) single nucleotide variant Pathogenic rs121918722 GRCh38 Chromosome 14, 24259087: 24259087
21 TGM1 NM_000359.2(TGM1): c.1166G> A (p.Arg389His) single nucleotide variant Pathogenic/Likely pathogenic rs121918723 GRCh37 Chromosome 14, 24727873: 24727873
22 TGM1 NM_000359.2(TGM1): c.1166G> A (p.Arg389His) single nucleotide variant Pathogenic/Likely pathogenic rs121918723 GRCh38 Chromosome 14, 24258667: 24258667
23 TGM1 TGM1, 1-BP DEL, 9008A deletion Pathogenic
24 TGM1 NM_000359.2(TGM1): c.1469A> G (p.Asp490Gly) single nucleotide variant Uncertain significance rs121918724 GRCh37 Chromosome 14, 24725217: 24725217
25 TGM1 NM_000359.2(TGM1): c.1469A> G (p.Asp490Gly) single nucleotide variant Uncertain significance rs121918724 GRCh38 Chromosome 14, 24256011: 24256011
26 TGM1 NM_000359.2(TGM1): c.832G> A (p.Gly278Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121918725 GRCh37 Chromosome 14, 24729190: 24729190
27 TGM1 NM_000359.2(TGM1): c.832G> A (p.Gly278Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121918725 GRCh38 Chromosome 14, 24259984: 24259984
28 TGM1 NM_000359.2(TGM1): c.1175G> A (p.Gly392Asp) single nucleotide variant Pathogenic rs121918726 GRCh37 Chromosome 14, 24727864: 24727864
29 TGM1 NM_000359.2(TGM1): c.1175G> A (p.Gly392Asp) single nucleotide variant Pathogenic rs121918726 GRCh38 Chromosome 14, 24258658: 24258658
30 TGM1 TGM1, ARG142PR0 undetermined variant Pathogenic
31 TGM1 NM_000359.2(TGM1): c.857G> A (p.Arg286Gln) single nucleotide variant Likely pathogenic rs121918727 GRCh37 Chromosome 14, 24729165: 24729165
32 TGM1 NM_000359.2(TGM1): c.857G> A (p.Arg286Gln) single nucleotide variant Likely pathogenic rs121918727 GRCh38 Chromosome 14, 24259959: 24259959
33 TGM1 NM_000359.2(TGM1): c.1552G> A (p.Val518Met) single nucleotide variant Conflicting interpretations of pathogenicity rs35312232 GRCh37 Chromosome 14, 24724663: 24724663
34 TGM1 NM_000359.2(TGM1): c.1552G> A (p.Val518Met) single nucleotide variant Conflicting interpretations of pathogenicity rs35312232 GRCh38 Chromosome 14, 24255457: 24255457
35 TGM1 NM_000359.2(TGM1): c.281G> A (p.Gly94Asp) single nucleotide variant Uncertain significance rs121918729 GRCh37 Chromosome 14, 24731278: 24731278
36 TGM1 NM_000359.2(TGM1): c.281G> A (p.Gly94Asp) single nucleotide variant Uncertain significance rs121918729 GRCh38 Chromosome 14, 24262072: 24262072
37 TGM1 NM_000359.2(TGM1): c.866A> C (p.Asn289Thr) single nucleotide variant Pathogenic rs121918730 GRCh37 Chromosome 14, 24729156: 24729156
38 TGM1 NM_000359.2(TGM1): c.866A> C (p.Asn289Thr) single nucleotide variant Pathogenic rs121918730 GRCh38 Chromosome 14, 24259950: 24259950
39 TGM1 NM_000359.2(TGM1): c.919C> T (p.Arg307Trp) single nucleotide variant Likely pathogenic rs121918731 GRCh37 Chromosome 14, 24728975: 24728975
40 TGM1 NM_000359.2(TGM1): c.919C> T (p.Arg307Trp) single nucleotide variant Likely pathogenic rs121918731 GRCh38 Chromosome 14, 24259769: 24259769
41 TGM1 NM_000359.2(TGM1): c.652G> A (p.Gly218Ser) single nucleotide variant Likely pathogenic rs121918732 GRCh37 Chromosome 14, 24729761: 24729761
42 TGM1 NM_000359.2(TGM1): c.652G> A (p.Gly218Ser) single nucleotide variant Likely pathogenic rs121918732 GRCh38 Chromosome 14, 24260555: 24260555
43 TGM1 NM_000359.2(TGM1): c.1303_1307delTTCCA (p.Phe435Cysfs) deletion Pathogenic rs398122900 GRCh37 Chromosome 14, 24727586: 24727590
44 TGM1 NM_000359.2(TGM1): c.1303_1307delTTCCA (p.Phe435Cysfs) deletion Pathogenic rs398122900 GRCh38 Chromosome 14, 24258380: 24258384
45 TGM1 NM_000359.2(TGM1): c.1744C> T (p.Gln582Ter) single nucleotide variant Likely pathogenic rs397514522 GRCh37 Chromosome 14, 24724361: 24724361
46 TGM1 NM_000359.2(TGM1): c.1744C> T (p.Gln582Ter) single nucleotide variant Likely pathogenic rs397514522 GRCh38 Chromosome 14, 24255155: 24255155
47 TGM1 TGM1, -86C-T single nucleotide variant Pathogenic
48 TGM1 NM_000359.2(TGM1): c.305A> T (p.Asp102Val) single nucleotide variant Pathogenic rs398122901 GRCh37 Chromosome 14, 24731254: 24731254
49 TGM1 NM_000359.2(TGM1): c.305A> T (p.Asp102Val) single nucleotide variant Pathogenic rs398122901 GRCh38 Chromosome 14, 24262048: 24262048
50 TGM1 NM_000359.2(TGM1): c.614T> A (p.Leu205Gln) single nucleotide variant Pathogenic rs878853259 GRCh38 Chromosome 14, 24260593: 24260593

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
Show member pathways
11.14 STS SULT2B1
2 11 APPL1 CTSD
3
Show member pathways
10.89 STS SULT2B1
4 10.32 APPL1 CTSD
5 9.98 ALOX12B ALOXE3

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 intracellular membrane-bounded organelle GO:0043231 8.92 ABCA12 CYP4F22 STS SULT2B1

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.78 ALOX12B ALOXE3 CYP4F22 SDR9C7
2 lipid metabolic process GO:0006629 9.73 ALOX12B ALOXE3 STS SULT2B1
3 sphingolipid metabolic process GO:0006665 9.46 ALOX12B ALOXE3
4 ceramide biosynthetic process GO:0046513 9.4 ALOX12B ALOXE3
5 arachidonic acid metabolic process GO:0019369 9.37 ALOX12B ALOXE3
6 keratinocyte differentiation GO:0030216 9.33 ABCA12 ST14 TGM1
7 linoleic acid metabolic process GO:0043651 9.32 ALOX12B ALOXE3
8 lipoxygenase pathway GO:0019372 9.26 ALOX12B ALOXE3
9 hepoxilin biosynthetic process GO:0051122 8.96 ALOX12B ALOXE3
10 establishment of skin barrier GO:0061436 8.8 ABCA12 ALOX12B ALOXE3

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 ALOX12B ALOXE3 CYP4F22 SDR9C7
2 iron ion binding GO:0005506 9.13 ALOX12B ALOXE3 CYP4F22
3 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 8.62 ALOX12B ALOXE3

Sources for Ichthyosis, Congenital, Autosomal Recessive 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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