MCID: ICH047
MIFTS: 48

Ichthyosis, Congenital, Autosomal Recessive 1

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

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 1

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

Name: Ichthyosis, Congenital, Autosomal Recessive 1 54 71 13
Autosomal Recessive Congenital Ichthyosis 1 12 29 14
Self-Healing Collodion Baby 71 69
Bathing Suit Ichthyosis 12 56
Ichthyosis Congenita Ii 71 69
Collodion Fetus 71 69
Arci1 12 71
Autosomal Recessive Congenital Ichthyosis 1 with Bathing Suit Distribution 71
Autosomal Recessive Congenital Ichthyosis Tgm1-Related 71
Lamellar Exfoliation of Newborn 71
Non-Erythrodermic Ichthyosis 71
Desquamation of Newborn 71
Lamellar Ichthyosis 1 71
Congenital Ichthyosis 69
Ichthyosis Congenita 71
Shcb 71
Icr2 71
Li1 71
Bsi 56

Characteristics:

Orphanet epidemiological data:

56
bathing suit ichthyosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
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:

Orphanet: 56  
Rare skin diseases


Summaries for Ichthyosis, Congenital, Autosomal Recessive 1

OMIM : 54
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 ichthyosis, congenital, autosomal recessive 4b and ichthyosis, congenital, autosomal recessive 3, and has symptoms including ichthyosis, alopecia and desquamation of skin soon after birth. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 1 is TGM1 (Transglutaminase 1), and among its related pathways/superpathways are A-beta Signaling Pathways and Androstenedione and testosterone biosynthesis and metabolism p.1. The drugs Bezafibrate and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotype is integument.

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 : 71 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 4a Ichthyosis, Congenital, Autosomal Recessive 4b
Ichthyosis, Congenital, Autosomal Recessive 6 Ichthyosis, Congenital, Autosomal Recessive 10
Ichthyosis, Congenital, Autosomal Recessive 8 Ichthyosis, Congenital, Autosomal Recessive 11
Ichthyosis, Congenital, Autosomal Recessive 7 Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Congenital, Autosomal Recessive 1 Ichthyosis, Congenital, Autosomal Recessive 9
Ichthyosis, Congenital, Autosomal Recessive 2 Ichthyosis, Congenital, Autosomal Recessive 3
Ichthyosis, Congenital, Autosomal Recessive 5 Ichthyosis, Congenital, Autosomal Recessive 12
Ichthyosis, Congenital, Autosomal Recessive 14 Autosomal Recessive Congenital Ichthyosis
Ichthyosis, Acquired Abca12-Related Autosomal Recessive Congenital Ichthyosis
Alox12b-Related Autosomal Recessive Congenital Ichthyosis Aloxe3-Related Autosomal Recessive Congenital Ichthyosis
Cyp4f22-Related Autosomal Recessive Congenital Ichthyosis Lipn-Related Autosomal Recessive Congenital Ichthyosis
Pnpla1-Related Autosomal Recessive Congenital Ichthyosis St14-Related Autosomal Recessive Congenital Ichthyosis
Tgm1-Related Autosomal Recessive Congenital Ichthyosis

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

(show all 32)
id Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 4b 31.5 ABCA12 TGM1
2 ichthyosis, congenital, autosomal recessive 3 30.2 ALOX12B ALOXE3 NIPAL4 SULT2B1 TGM1
3 acral self-healing collodion baby 12.6
4 keratosis linearis with ichthyosis congenita and sclerosing keratoderma 12.3
5 ichthyosis congenita biliary atresia 11.8
6 ichthyosis lamellar 1 11.1
7 ichthyosis, congenital, autosomal recessive 5 10.7
8 ichthyosis, congenital, autosomal recessive 12 10.7
9 ichthyosis, congenital, autosomal recessive 4a 10.7
10 ichthyosis, congenital, autosomal recessive 6 10.7
11 ichthyosis, congenital, autosomal recessive 10 10.7
12 ichthyosis, congenital, autosomal recessive 8 10.7
13 ichthyosis, congenital, autosomal recessive 11 10.7
14 ichthyosis, congenital, autosomal recessive 7 10.7
15 ichthyosis, congenital, autosomal recessive 9 10.7
16 ichthyosis, congenital, autosomal recessive 2 10.7
17 ichthyosis 10.5
18 communicating hydrocephalus 10.2 ABCA12 TGM1
19 cervical clear cell adenocarcinoma 10.1 ABCA12 TGM1
20 hypohidrosis 10.0
21 chondrodysplasia punctata, x-linked recessive 10.0 STS TGM1
22 majeed syndrome 9.9 APPL1 SULT2B1
23 silver-russell syndrome 9.9
24 intellectual developmental disorder with dysmorphic facies and ptosis 9.8 CTSD STS
25 ichthyosis vulgaris 9.8 ABCA12 STS TGM1
26 otosclerosis 4 9.8 STS SULT2B1
27 warsaw breakage syndrome 9.3 APPL1 SDR9C7 ST14
28 amyotrophic lateral sclerosis 19 8.9 ABCA12 ALOX12B ALOXE3 CYP4F22 NIPAL4 TGM1
29 steroid inherited metabolic disorder 7.8 ABCA12 ALOX12B ALOXE3 CYP4F22 NIPAL4 ST14
30 catecholaminergic polymorphic ventricular tachycardia 5 7.2 ABCA12 ALOX12B ALOXE3 CYP4F22 NIPAL4 SDR9C7
31 richter's syndrome 7.2 ABCA12 ALOX12B ALOXE3 CYP4F22 NIPAL4 SDR9C7
32 deafness, autosomal dominant 53 5.9 ABCA12 ALOX12B ALOXE3 APPL1 CTSD CYP4F22

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:

54

Head And Neck- Eyes:
ectropion

Skeletal- Limbs:
joint contractures (in some patients)

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

Head And Neck- Face:
taut facial skin

Skeletal- Hands:
digital necrosis (in some patients)

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

Head And Neck- Mouth:
eclabium

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
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


Clinical features from OMIM:

242300

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

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0008064
2 alopecia 32 occasional (7.5%) HP:0001596
3 desquamation of skin soon after birth 32 HP:0007549
4 hypotrichosis 32 occasional (7.5%) HP:0001006
5 ectropion 32 HP:0000656
6 nail dystrophy 32 occasional (7.5%) HP:0008404
7 nail dysplasia 32 occasional (7.5%) HP:0002164
8 erythroderma 32 HP:0001019
9 everted lower lip vermilion 32 HP:0000232
10 congenital ichthyosiform erythroderma 32 HP:0007431
11 flexion contracture 32 occasional (7.5%) HP:0001371

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


trichorrhexis invaginata

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.1 ABCA12 ALOX12B ALOXE3 CTSD ST14 TGM1

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 37)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved Phase 4 41859-67-0 39042
2 Anticholesteremic Agents Phase 4,Phase 2
3 Antimetabolites Phase 4,Phase 2
4 Clofibric Acid Phase 4 882-09-7
5 Hypolipidemic Agents Phase 4,Phase 2
6 Lipid Regulating Agents Phase 4,Phase 2
7 Liarozole Investigational Phase 2, Phase 3 115575-11-6
8 Androgen Antagonists Phase 2, Phase 3
9 Androgens Phase 2, Phase 3
10 Antineoplastic Agents, Hormonal Phase 2, Phase 3
11 Dermatologic Agents Phase 2, Phase 3,Phase 1
12 Hormone Antagonists Phase 2, Phase 3
13 Hormones Phase 2, Phase 3
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
15 Cariostatic Agents Phase 3
16 Monolaurin Phase 3
17 Protective Agents Phase 3
18
Ethanol Approved Phase 2 64-17-5 702
19
Pimecrolimus Approved, Investigational Phase 1, Phase 2 137071-32-0 6447131 17753757
20
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
21
Adalimumab Approved Phase 2 331731-18-1 16219006
22 Analgesics Phase 1, Phase 2
23 Analgesics, Non-Narcotic Phase 1, Phase 2
24 Anti-Inflammatory Agents Phase 1, Phase 2
25 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
26 Antirheumatic Agents Phase 1, Phase 2
27 Calcineurin Inhibitors Phase 1, Phase 2
28 Immunosuppressive Agents Phase 1, Phase 2
29 Peripheral Nervous System Agents Phase 1, Phase 2
30 Antibodies Phase 2
31 Antibodies, Monoclonal Phase 2
32 Immunoglobulins Phase 2
33 Pharmaceutical Solutions Phase 2
34
Acitretin Approved 55079-83-9 6437841 5284513
35 Keratolytic Agents
36 Radiation-Protective Agents
37 Sunscreening Agents

Interventional clinical trials:

(show all 33)

id 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 T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma Pigmentosum Unknown status NCT00002811 Phase 3 liposomal T4N5 lotion
4 Efficacy and Safety of Two Doses of Liarozole vs. Placebo for the Treatment of Lamellar Ichthyosis Completed NCT00282724 Phase 2, Phase 3 Liarozole
5 Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis Completed NCT00004690 Phase 3 monolaurin cream
6 A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS) Completed NCT02402309 Phase 2 Active topical NS2 1% dermatologic cream;Vehicle placebo 0.0% NS2 dermatologic cream
7 Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome Completed NCT00208026 Phase 1, Phase 2 Pimecrolimus 1% Cream
8 A Six Week Topical Cream Study for Subjects With Ichthyosis Vulgaris Recruiting NCT03173547 Phase 2 146-9251 cream;Vehicle cream
9 A Safety and Tolerability Study of Topical PAT-001 in Congenital Ichthyosis Recruiting NCT02864082 Phase 2 PAT-001, 0.1%;PAT-001, 0.2%;Vehicle
10 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Recruiting NCT03041038 Phase 2 Secukinumab;Placebo
11 Clinical Trial Using Humira in Netherton Syndrome Active, not recruiting NCT02113904 Phase 2 Adalimumab
12 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
13 A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton Syndrome Completed NCT01428297 Phase 1 BPR277 ointment (controlled application);Placebo (Vehicle);BPR277 ointment;Placebo (Vehicle);BPR277;Placebo (Vehicle)
14 Gene Therapy for Netherton Syndrome Recruiting NCT01545323 Phase 1
15 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685
16 Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers Unknown status NCT01971957
17 Xeroderma Pigmentosum Patient Experiences Unknown status NCT01123694
18 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population Completed NCT01016106
19 Use of Fish Skin Extracellular Matrix (ECM) to Facilitate Chronic Wound Healing Completed NCT01348581
20 Study of Scaling Disorders and Other Inherited Skin Diseases Completed NCT00001292
21 Healing of Punch Graft Wounds. Comparative Study Between MariGen and Oasis: a Non-inferiority Study Completed NCT01917591
22 The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive Diseases Completed NCT00005660
23 Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients Completed NCT00555633
24 A Multi-center, Prospective Evaluation of Infants and Children With Congenital Ichthyosis Recruiting NCT02655861
25 Studies of Skin Microbes in Healthy People and in People With Skin Conditions Recruiting NCT00605878
26 Asthma and Atopic Dermatitis Validation of PROMIS Pediatric Instruments Recruiting NCT03051347
27 International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Recruiting NCT02918032
28 Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum Recruiting NCT00046189
29 Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Recruiting NCT00001813
30 Natural History and Biological Study of Netherton Syndrome Recruiting NCT02081313
31 Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M Recruiting NCT02830763
32 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
33 Comparison of Different Concentrations of Carbamide as Moisturizers in Ichthyosis Vulgaris Enrolling by invitation NCT02978209

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:

id Genetic test Affiliating Genes
1 Autosomal Recessive Congenital Ichthyosis 1 29

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 1

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

39
Skin

Publications for Ichthyosis, Congenital, Autosomal Recessive 1

Variations for Ichthyosis, Congenital, Autosomal Recessive 1

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

71 (show top 50) (show all 65)
id 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 all 41)
id 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.428G> A (p.Arg143His) single nucleotide variant Pathogenic rs121918719 GRCh37 Chromosome 14, 24730981: 24730981
4 TGM1 NM_000359.2(TGM1): c.479C> G (p.Ser160Cys) single nucleotide variant Pathogenic rs121918728 GRCh37 Chromosome 14, 24730930: 24730930
5 TGM1 NM_000359.2(TGM1): c.424C> T (p.Arg142Cys) single nucleotide variant Pathogenic rs121918716 GRCh37 Chromosome 14, 24730985: 24730985
6 TGM1 NM_000359.2(TGM1): c.968G> A (p.Arg323Gln) single nucleotide variant Pathogenic rs121918717 GRCh37 Chromosome 14, 24728926: 24728926
7 TGM1 NM_000359.2(TGM1): c.425G> A (p.Arg142His) single nucleotide variant Pathogenic rs121918718 GRCh37 Chromosome 14, 24730984: 24730984
8 TGM1 NM_000359.2(TGM1): c.1135G> C (p.Val379Leu) single nucleotide variant Pathogenic rs121918720 GRCh37 Chromosome 14, 24728305: 24728305
9 TGM1 NM_000359.2(TGM1): c.1187G> T (p.Arg396Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121918721 GRCh37 Chromosome 14, 24727852: 24727852
10 TGM1 NM_000359.2(TGM1): c.1147G> A (p.Val383Met) single nucleotide variant Pathogenic rs121918722 GRCh37 Chromosome 14, 24728293: 24728293
11 TGM1 NM_000359.2(TGM1): c.1166G> A (p.Arg389His) single nucleotide variant Pathogenic rs121918723 GRCh37 Chromosome 14, 24727873: 24727873
12 TGM1 TGM1, 1-BP DEL, 9008A deletion Pathogenic
13 TGM1 NM_000359.2(TGM1): c.1469A> G (p.Asp490Gly) single nucleotide variant Pathogenic rs121918724 GRCh37 Chromosome 14, 24725217: 24725217
14 TGM1 NM_000359.2(TGM1): c.832G> A (p.Gly278Arg) single nucleotide variant Pathogenic rs121918725 GRCh37 Chromosome 14, 24729190: 24729190
15 TGM1 NM_000359.2(TGM1): c.1175G> A (p.Gly392Asp) single nucleotide variant Pathogenic rs121918726 GRCh37 Chromosome 14, 24727864: 24727864
16 TGM1 TGM1, ARG142PR0 undetermined variant Pathogenic
17 TGM1 NM_000359.2(TGM1): c.857G> A (p.Arg286Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121918727 GRCh37 Chromosome 14, 24729165: 24729165
18 TGM1 NM_000359.2(TGM1): c.281G> A (p.Gly94Asp) single nucleotide variant Pathogenic rs121918729 GRCh37 Chromosome 14, 24731278: 24731278
19 TGM1 NM_000359.2(TGM1): c.866A> C (p.Asn289Thr) single nucleotide variant Pathogenic rs121918730 GRCh37 Chromosome 14, 24729156: 24729156
20 TGM1 NM_000359.2(TGM1): c.919C> T (p.Arg307Trp) single nucleotide variant Pathogenic rs121918731 GRCh37 Chromosome 14, 24728975: 24728975
21 TGM1 NM_000359.2(TGM1): c.652G> A (p.Gly218Ser) single nucleotide variant Pathogenic rs121918732 GRCh37 Chromosome 14, 24729761: 24729761
22 TGM1 NM_000359.2(TGM1): c.1303_1307delTTCCA (p.Phe435Cysfs) deletion Pathogenic rs398122900 GRCh37 Chromosome 14, 24727586: 24727590
23 TGM1 NM_000359.2(TGM1): c.1744C> T (p.Gln582Ter) single nucleotide variant Pathogenic rs397514522 GRCh37 Chromosome 14, 24724361: 24724361
24 TGM1 TGM1, -86C-T single nucleotide variant Pathogenic
25 TGM1 NM_000359.2(TGM1): c.305A> T (p.Asp102Val) single nucleotide variant Pathogenic rs398122901 GRCh37 Chromosome 14, 24731254: 24731254
26 TGM1 NM_000359.2(TGM1): c.614T> A (p.Leu205Gln) single nucleotide variant Pathogenic rs878853259 GRCh38 Chromosome 14, 24260593: 24260593
27 TGM1 NM_000359.2(TGM1): c.826T> A (p.Tyr276Asn) single nucleotide variant Pathogenic rs397514523 GRCh37 Chromosome 14, 24729196: 24729196
28 TGM1 NM_000359.2(TGM1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs397514524 GRCh37 Chromosome 14, 24731033: 24731033
29 TGM1 NM_000359.2(TGM1): c.943C> T (p.Arg315Cys) single nucleotide variant Pathogenic rs397514525 GRCh37 Chromosome 14, 24728951: 24728951
30 TGM1 NM_000359.2(TGM1): c.944G> A (p.Arg315His) single nucleotide variant Pathogenic rs143473912 GRCh37 Chromosome 14, 24728950: 24728950
31 TGM1 NM_000359.2(TGM1): c.944G> T (p.Arg315Leu) single nucleotide variant Pathogenic rs143473912 GRCh37 Chromosome 14, 24728950: 24728950
32 TGM1 NM_000359.2(TGM1): c.1075G> A (p.Val359Met) single nucleotide variant Pathogenic rs202037016 GRCh37 Chromosome 14, 24728365: 24728365
33 TGM1 NM_000359.2(TGM1): c.1187G> A (p.Arg396His) single nucleotide variant Pathogenic rs121918721 GRCh37 Chromosome 14, 24727852: 24727852
34 TGM1 NM_000359.2(TGM1): c.1923_1927+2delGGCCTGT deletion Pathogenic rs398122902 GRCh37 Chromosome 14, 24724176: 24724182
35 TGM1 NM_000359.2(TGM1): c.1331dupA (p.Arg445Glufs) duplication Pathogenic rs398122903 GRCh37 Chromosome 14, 24727562: 24727562
36 TGM1 NM_000359.2(TGM1): c.2278C> T (p.Arg760Ter) single nucleotide variant Pathogenic rs398122904 GRCh37 Chromosome 14, 24718695: 24718695
37 TGM1 NM_000359.2(TGM1): c.1223_1227delACACA (p.Asp408Valfs) deletion Pathogenic/Likely pathogenic rs398122905 GRCh37 Chromosome 14, 24727812: 24727816
38 TGM1 NM_000359.2(TGM1): c.1363T> C (p.Trp455Arg) single nucleotide variant Pathogenic rs863223405 GRCh37 Chromosome 14, 24727530: 24727530
39 TGM1 NM_000359.2(TGM1): c.910A> T (p.Ile304Phe) single nucleotide variant Likely pathogenic rs753798494 GRCh38 Chromosome 14, 24259778: 24259778
40 TGM1 NM_000359.2(TGM1): c.758-2A> G single nucleotide variant Likely pathogenic rs886042116 GRCh37 Chromosome 14, 24729266: 24729266
41 SULT2B1 NM_177973.1(SULT2B1): c.446C> T (p.Pro149Leu) single nucleotide variant Pathogenic rs1114167424 GRCh38 Chromosome 19, 48591631: 48591631

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:

id Super pathways Score Top Affiliating Genes
1 11.03 APPL1 CTSD
2
Show member pathways
10.89 STS SULT2B1
3 10.37 APPL1 CTSD
4 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:

id 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:

id 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:

id 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
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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