VI
MCID: ICH001
MIFTS: 55

Ichthyosis Vulgaris (VI)

Categories: Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Ichthyosis Vulgaris

MalaCards integrated aliases for Ichthyosis Vulgaris:

Name: Ichthyosis Vulgaris 57 11 19 75 73 28 12 53 5 43 14 38 71 31 33
Ichthyosis Simplex 57 19 73
Dominant Congenital Ichthyosiform Erythroderma 11
Congenital Ichthyosis 71
Fish Scale Disease 19
Common Ichthyosis 19
Ichthyoses 71
Vi 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset usually after 3 months age
lesions rare in the axillae, antecubital or popliteal fossae
palms and soles often show increased markings
frequent asthma, eczema, or hay fever


Classifications:



External Ids:

Disease Ontology 11 DOID:1702
OMIM® 57 146700
MeSH 43 D016112
NCIt 49 C84778
SNOMED-CT 68 205551004
ICD10 31 Q80.0
MedGen 40 C0079584
ICD11 33 841161884
UMLS 71 C0020757 C0020758 C0079584

Summaries for Ichthyosis Vulgaris

UniProtKB/Swiss-Prot: 73 The most common form of ichthyosis inherited as an autosomal dominant trait. It is characterized by palmar hyperlinearity, keratosis pilaris and a fine scale that is most prominent over the lower abdomen, arms, and legs. Ichthyosis vulgaris is characterized histologically by absent or reduced keratohyalin granules in the epidermis and mild hyperkeratosis. The disease can be associated with frequent asthma, eczema or hay fever.

MalaCards based summary: Ichthyosis Vulgaris, also known as ichthyosis simplex, is related to dermatitis and dermatitis, atopic, 2, and has symptoms including trichorrhexis invaginata An important gene associated with Ichthyosis Vulgaris is FLG (Filaggrin), and among its related pathways/superpathways are Nervous system development and Keratinization. The drugs Ustekinumab and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, neutrophil and lymph node, and related phenotypes are asthma and eczematoid dermatitis

OMIM®: 57 The phenotypic characteristics of ichthyosis vulgaris include palmar hyperlinearity, keratosis pilaris, and a fine scale that is most prominent over the lower abdomen, arms, and legs. Marked presentation includes prominent scaling, whereas mild presentation consists of palmar hyperlinearity, keratosis pilaris, and, in some cases, fine scaling (summary by Smith et al., 2006). (146700) (Updated 08-Dec-2022)

GARD: 19 Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. This condition is inherited in an autosomal dominant pattern.

Disease Ontology: 11 An ichthyosis that has material basis in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface.

Wikipedia: 75 Ichthyosis vulgaris (also known as "autosomal dominant ichthyosis" and "Ichthyosis simplex") is a skin... more...

Related Diseases for Ichthyosis Vulgaris

Diseases related to Ichthyosis Vulgaris via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 180)
# Related Disease Score Top Affiliating Genes
1 dermatitis 31.2 TMEM79 SPINK5 LORICRIN IVL FLG
2 dermatitis, atopic, 2 31.1 FLG-AS1 FLG
3 dermatitis, atopic 30.8 TMEM79 SPINK5 LORICRIN IVL HRNR FLG2
4 keratosis 30.8 TGM1 LORICRIN KRT14 KRT1 IVL FLG
5 ichthyosis 30.5 TGM1 STS SPINK5 PHYH NIPAL4 LORICRIN
6 ichthyosis, x-linked 30.5 TGM1 STS NIPAL4 KRT1 IVL FLG
7 lichen planus 30.5 KRT1 IVL FLG
8 irritant dermatitis 30.3 LORICRIN IVL FLG
9 epidermolysis bullosa dystrophica 30.2 KRT14 KRT1 IVL FLG
10 contact dermatitis 30.2 SPINK5 LORICRIN IVL FLG
11 chondrodysplasia punctata syndrome 30.1 STS PHYH
12 netherton syndrome 30.1 TGM1 SPINK5 FLG CDSN
13 epidermolysis bullosa 30.1 LORICRIN KRT14 KRT1 IVL FLG
14 skin disease 30.0 TGM1 STS SPINK5 LORICRIN KRT14 KRT1
15 eczema herpeticum 29.9 SPINK5 LORICRIN IVL FLG2 FLG CDSN
16 trichothiodystrophy 1, photosensitive 29.9 TGM1 KRT1 ALOXE3 ALOX12B ABCA12
17 x-linked chondrodysplasia punctata 2 29.9 TGM1 NIPAL4 ALOXE3 ALOX12B ABCA12
18 psoriasis 29.8 TGM1 SPINK5 LORICRIN KRT14 KRT1 IVL
19 ichthyosis, congenital, autosomal recessive 1 29.7 TGM1 NIPAL4 CASP14 ALOXE3 ALOX12B ABCA12
20 peeling skin syndrome 29.7 TGM1 SPINK5 LORICRIN FLG2 FLG CDSN
21 epidermolytic hyperkeratosis 29.1 TGM1 STS SPINK5 NIPAL4 LORICRIN KRT14
22 autosomal recessive congenital ichthyosis 28.9 TMEM79 TGM1 STS SPINK5 NIPAL4 LORICRIN
23 osteosclerosis with ichthyosis and premature ovarian failure 11.3
24 acquired ichthyosis 11.2
25 refsum disease, classic 11.2
26 pityriasis rotunda 11.1
27 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
28 paroxysmal dystonia 10.4 FLG-AS1 FLG
29 clear cell acanthoma 10.3 IVL FLG
30 ige responsiveness, atopic 10.3
31 esophageal basaloid squamous cell carcinoma 10.3 KRT14 ABCA12
32 peeling skin syndrome 6 10.3 FLG2 FLG-AS1
33 elastosis perforans serpiginosa 10.3 TGM1 IVL
34 ainhum 10.3 NIPAL4 LORICRIN
35 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 10.3 FLG-AS1 FLG
36 leukoplakia 10.3 KRT1 FLG
37 molluscum contagiosum 10.3 LORICRIN IVL FLG
38 skin papilloma 10.3 LORICRIN KRT14 KRT1
39 seborrheic dermatitis 10.3 SPINK5 LORICRIN FLG
40 keratosis follicularis spinulosa decalvans, autosomal dominant 10.3 TGM1 KRT14
41 psoriasis 4 10.3 LORICRIN CDSN
42 borst-jadassohn intraepidermal carcinoma 10.3 KRT14 IVL
43 legume allergy 10.3 SPINK5 FLG
44 autoimmune disease of skin and connective tissue 10.3 LORICRIN IVL FLG
45 fruit allergy 10.3 SPINK5 FLG
46 cicatricial lagophthalmos 10.3 LORICRIN KRT1 IVL FLG
47 keratoacanthoma 10.2 KRT14 IVL FLG
48 cicatricial ectropion 10.2 TGM1 NIPAL4 ABCA12
49 porokeratosis 10.2 LORICRIN KRT1 IVL FLG
50 actinic keratosis 10.2 LORICRIN KRT14 IVL FLG

Comorbidity relations with Ichthyosis Vulgaris via Phenotypic Disease Network (PDN):


Sjogren Syndrome

Graphical network of the top 20 diseases related to Ichthyosis Vulgaris:



Diseases related to Ichthyosis Vulgaris

Symptoms & Phenotypes for Ichthyosis Vulgaris

Human phenotypes related to Ichthyosis Vulgaris:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 asthma 30 Frequent (33%) HP:0002099
2 eczematoid dermatitis 30 Frequent (33%) HP:0000976
3 absent keratohyalin granules 30 Very rare (1%) HP:0033807
4 ichthyosis 30 HP:0008064
5 dry skin 30 HP:0000958
6 keratosis pilaris 30 HP:0032152
7 palmar hyperlinearity 30 HP:0033252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Skin:
ichthyosis vulgaris
ichthyosis simplex

Clinical features from OMIM®:

146700 (Updated 08-Dec-2022)

UMLS symptoms related to Ichthyosis Vulgaris:


trichorrhexis invaginata

MGI Mouse Phenotypes related to Ichthyosis Vulgaris:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 ABCA12 ALOX12B ALOXE3 CASP14 CDSN HRNR
2 integument MP:0010771 9.4 ABCA12 ALOX12B ALOXE3 CASP14 CDSN KRT1

Drugs & Therapeutics for Ichthyosis Vulgaris

Drugs for Ichthyosis Vulgaris (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ustekinumab Approved, Investigational Phase 4 815610-63-0
2 Dermatologic Agents Phase 4
3 Emollients Phase 4
4 Monolaurin Phase 3
5 Protective Agents Phase 3
6
Isotretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4, 4759-48-2 5538 444795 5282379
7 Immunoglobulins Phase 2
8 Antibodies Phase 2
9
Carbamide peroxide Approved 124-43-6

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Scientific Substantiation and Assessment of the Effectiveness of Pathogenetic Methods of Therapy for Congenital Ichthyosis in Children Recruiting NCT04996485 Phase 4 Secukinumab Injection;Ustekinumab Injection;Dupilumab Injection
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
3 Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis Completed NCT00004690 Phase 3 monolaurin cream
4 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 Completed NCT03173547 Phase 2 146-9251 cream;Vehicle cream
5 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 Completed NCT04154293 Phase 2 Isotretinoin
6 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 for PAT-001 0.1%;Vehicle for PAT-001 0.2%
7 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 Completed NCT03041038 Phase 2 Secukinumab;Placebo
8 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) Active, not recruiting NCT04047732 Phase 1, Phase 2
9 Open-label, Pilot Study to Assess Cholesterol-Lovastatin Solution in the Treatment of Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
10 Double Blinded Randomized Clinical Study of Carbamide as Moisturizer in Ichthyosis Vulgaris Unknown status NCT02978209
11 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population Completed NCT01016106
12 The Role Of Neutrophil Proteases As Global Regulators Of Il-1 Family Cytokine Activity In Skin Disorders Recruiting NCT04750161
13 Studies of Skin Microflora in Healthy Individuals and Atopic Dermatitis Patients Recruiting NCT00605878
14 Quality of Life in Middle-aged and Older Patients With Congenital Ichthyosis: a Qualitative Study With In-depth Interviews Recruiting NCT05610306
15 An Open-Label and Long-Term Extension Study to Evaluate the Efficacy and Safety of Ustekinumab in the Treatment of Patients With Ichthyoses. Recruiting NCT04549792 Early Phase 1 Ustekinumab
16 Study of In Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis Not yet recruiting NCT05312073
17 Prospective Evaluation of Infants and Children With Congenital Ichthyosis Terminated NCT02655861

Search NIH Clinical Center for Ichthyosis Vulgaris

Inferred drug relations via UMLS 71 / NDF-RT 50 :


ammonium lactate

Cochrane evidence based reviews: ichthyosis vulgaris

Genetic Tests for Ichthyosis Vulgaris

Genetic tests related to Ichthyosis Vulgaris:

# Genetic test Affiliating Genes
1 Ichthyosis Vulgaris 28 FLG

Anatomical Context for Ichthyosis Vulgaris

Organs/tissues related to Ichthyosis Vulgaris:

MalaCards : Skin, Neutrophil, Lymph Node, Small Intestine, Bone Marrow, Bone, Thyroid

Publications for Ichthyosis Vulgaris

Articles related to Ichthyosis Vulgaris:

(show top 50) (show all 533)
# Title Authors PMID Year
1
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. 53 62 57 5
17291859 2007
2
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. 53 62 57 5
16444271 2006
3
Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations. 53 62 5
19785597 2009
4
Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. 53 62 5
18239616 2008
5
Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. 53 62 5
18200065 2008
6
Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis. 53 62 5
17657246 2007
7
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. 53 62 5
17417636 2007
8
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. 53 62 5
16815158 2006
9
Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1. 53 62 57
12473059 2002
10
Loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice: an animal model for the filaggrin-deficient skin disease ichthyosis vulgaris. 53 62 57
11121144 2000
11
Reduced stability and bi-allelic, coequal expression of profilaggrin mRNA in keratinocytes cultured from subjects with ichthyosis vulgaris. 53 62 57
9620289 1998
12
Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017. 62 5
31642606 2020
13
Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls. 62 5
28730607 2017
14
Filaggrin loss-of-function mutations, atopic dermatitis and risk of actinic keratosis: results from two cross-sectional studies. 62 5
28213896 2017
15
Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis. 62 5
27519469 2017
16
Filaggrin gene mutations and new SNPs in asthmatic patients: a cross-sectional study in a Spanish population. 62 5
27462351 2016
17
Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis. 62 5
24629053 2015
18
Filaggrin gene mutations in African Americans with both ichthyosis vulgaris and atopic dermatitis. 62 5
24920311 2014
19
Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population. 62 5
22407025 2012
20
Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations. 62 5
21428977 2011
21
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. 62 5
21514438 2011
22
Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis. 62 5
21039602 2011
23
Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22. 62 57
12838398 2003
24
Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. 62 57
2579164 1985
25
Elevated levels of arylsulfatase C activity in cultured skin fibroblasts of patients with autosomal dominant ichthyosis vulgaris. 62 57
6951797 1982
26
Ichthyosis vulgaris showing features of the autosomal dominant and X-linked recessive variants in the same family. 62 57
668182 1978
27
Ultrastructural distinction of autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis. 62 57
4117150 1972
28
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
29
Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status. 5
32066784 2020
30
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. 5
30665703 2019
31
Tiled array-based sequencing identifies enrichment of loss-of-function variants in the highly homologous filaggrin gene in African-American children with severe atopic dermatitis. 5
29791750 2018
32
Uncommon Filaggrin Variants Are Associated with Persistent Atopic Dermatitis in African Americans. 5
29428354 2018
33
Whole-exome sequencing for diagnosis of hereditary ichthyosis. 5
29444371 2018
34
Increased Prevalence of Filaggrin Deficiency in 51 Patients with Recessive X-Linked Ichthyosis Presenting for Dermatological Examination. 5
29054605 2018
35
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants. 5
29431110 2018
36
Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants. 5
29056476 2018
37
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. 5
29130490 2017
38
Filaggrin loss-of-function mutations as a predictor for atopic eczema, allergic sensitization and eczema-associated asthma in Polish children population. 5
29068602 2017
39
Filaggrin loss-of-function mutations as risk factors for ischemic stroke in the general population. 5
28164424 2017
40
Filaggrin Mutation in Korean Patients with Atopic Dermatitis. 5
28120571 2017
41
The study of filaggrin gene mutations and copy number variation in atopic dermatitis patients from Volga-Ural region of Russia. 5
27363669 2016
42
The prevalence of mutations in the gene encoding filaggrin in the population of Polish patients with atopic dermatitis. 5
27279822 2016
43
Contact dermatitis in the construction industry: the role of filaggrin loss-of-function mutations. 5
26451970 2016
44
Novel FLG null mutations in Korean patients with atopic dermatitis and comparison of the mutational spectra in Asian populations. 5
25997159 2015
45
Disease variants in genomes of 44 centenarians. 5
25333069 2014
46
Exome sequencing of filaggrin and related genes in African-American children with atopic dermatitis. 5
24608987 2014
47
Severe skin inflammation and filaggrin mutation similarly alter the skin barrier in patients with atopic dermatitis. 5
24251354 2014
48
Racial comparison of filaggrin null mutations in asthmatic patients with atopic dermatitis in a US population. 5
23993222 2013
49
Filaggrin compound heterozygous patients carry mutations in trans position. 5
23947670 2013
50
Filaggrin mutations are strongly associated with contact sensitization in individuals with dermatitis. 5
23343419 2013

Variations for Ichthyosis Vulgaris

ClinVar genetic disease variations for Ichthyosis Vulgaris:

5 (show top 50) (show all 74)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLG NM_002016.2(FLG):c.7189C>T (p.Gln2397Ter) SNV Pathogenic
225361 rs535289422 GRCh37: 1:152280173-152280173
GRCh38: 1:152307697-152307697
2 FLG NM_002016.2(FLG):c.9887C>A (p.Ser3296Ter) SNV Pathogenic
225360 rs761212672 GRCh37: 1:152277475-152277475
GRCh38: 1:152304999-152304999
3 FLG NM_002016.2(FLG):c.2143C>T (p.Gln715Ter) SNV Pathogenic
208582 rs797045090 GRCh37: 1:152285219-152285219
GRCh38: 1:152312743-152312743
4 FLG-AS1, FLG NM_002016.2(FLG):c.487G>T (p.Gly163Ter) SNV Pathogenic
523875 rs1214424848 GRCh37: 1:152286875-152286875
GRCh38: 1:152314399-152314399
5 FLG NM_002016.2(FLG):c.5368C>T (p.Gln1790Ter) SNV Pathogenic
1032025 rs200622741 GRCh37: 1:152281994-152281994
GRCh38: 1:152309518-152309518
6 FLG NM_002016.2(FLG):c.5198C>G (p.Ser1733Ter) SNV Pathogenic
1228379 GRCh37: 1:152282164-152282164
GRCh38: 1:152309688-152309688
7 FLG-AS1, FLG NM_002016.2(FLG):c.138+1G>C SNV Pathogenic
1322922 GRCh37: 1:152287794-152287794
GRCh38: 1:152315318-152315318
8 FLG NM_002016.2(FLG):c.2779C>T (p.Gln927Ter) SNV Pathogenic
1322923 GRCh37: 1:152284583-152284583
GRCh38: 1:152312107-152312107
9 FLG-AS1, FLG NM_002016.2(FLG):c.1063C>T (p.Gln355Ter) SNV Pathogenic
280412 rs142991475 GRCh37: 1:152286299-152286299
GRCh38: 1:152313823-152313823
10 FLG NM_002016.2(FLG):c.3702del (p.Ser1235fs) DEL Pathogenic
50931 rs397507563 GRCh37: 1:152283660-152283660
GRCh38: 1:152311184-152311184
11 FLG NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) DEL Pathogenic
419605 rs578184315 GRCh37: 1:152280405-152280412
GRCh38: 1:152307929-152307936
12 FLG NM_002016.2(FLG):c.7264G>T (p.Glu2422Ter) SNV Pathogenic
265477 rs374588791 GRCh37: 1:152280098-152280098
GRCh38: 1:152307622-152307622
13 FLG NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter) SNV Pathogenic
280166 rs200002200 GRCh37: 1:152281253-152281253
GRCh38: 1:152308777-152308777
14 FLG NM_002016.2(FLG):c.7249C>T (p.Gln2417Ter) SNV Pathogenic
381660 rs528722713 GRCh37: 1:152280113-152280113
GRCh38: 1:152307637-152307637
15 FLG NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter) SNV Pathogenic
429704 rs749083759 GRCh37: 1:152276393-152276393
GRCh38: 1:152303917-152303917
16 FLG NM_002016.2(FLG):c.8117C>G (p.Ser2706Ter) SNV Pathogenic
545968 rs542799026 GRCh37: 1:152279245-152279245
GRCh38: 1:152306769-152306769
17 FLG NM_002016.2(FLG):c.4544C>A (p.Ser1515Ter) SNV Pathogenic
559656 rs180768115 GRCh37: 1:152282818-152282818
GRCh38: 1:152310342-152310342
18 FLG NM_002016.2(FLG):c.3222_3225del (p.Ser1074fs) DEL Pathogenic
817045 rs745915174 GRCh37: 1:152284137-152284140
GRCh38: 1:152311661-152311664
19 FLG NM_002016.2(FLG):c.9085C>T (p.Gln3029Ter) SNV Pathogenic
817526 rs564628353 GRCh37: 1:152278277-152278277
GRCh38: 1:152305801-152305801
20 FLG NM_002016.2(FLG):c.2976_2977del (p.Arg992fs) MICROSAT Pathogenic
1685822 rs776968118 GRCh37: 1:152284385-152284386
GRCh38: 1:152311909-152311910
21 FLG NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter) SNV Pathogenic
16321 rs121909626 GRCh37: 1:152279701-152279701
GRCh38: 1:152307225-152307225
22 FLG NM_002016.2(FLG):c.3905C>A (p.Ser1302Ter) SNV Pathogenic
225362 rs754812742 GRCh37: 1:152283457-152283457
GRCh38: 1:152310981-152310981
23 FLG NM_002016.2(FLG):c.3321del (p.Gly1109fs) DEL Pathogenic
420115 rs200519781 GRCh37: 1:152284041-152284041
GRCh38: 1:152311565-152311565
24 FLG NM_002016.2(FLG):c.2131_2137dup (p.Gln713fs) DUP Pathogenic
1322921 GRCh37: 1:152285224-152285225
GRCh38: 1:152312748-152312749
25 FLG-AS1, FLG NM_002016.2(FLG):c.94G>T (p.Glu32Ter) SNV Pathogenic
280469 rs114733570 GRCh37: 1:152287839-152287839
GRCh38: 1:152315363-152315363
26 FLG NM_002016.2(FLG):c.2929C>T (p.Gln977Ter) SNV Pathogenic
265537 rs144419479 GRCh37: 1:152284433-152284433
GRCh38: 1:152311957-152311957
27 FLG NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) SNV Pathogenic
Pathogenic
50932 rs138726443 GRCh37: 1:152280023-152280023
GRCh38: 1:152307547-152307547
28 FLG NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) SNV Pathogenic
Pathogenic
Pathogenic/Likely Pathogenic
16319 rs61816761 GRCh37: 1:152285861-152285861
GRCh38: 1:152313385-152313385
29 FLG NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter) SNV Pathogenic/Likely Pathogenic
279933 rs149484917 GRCh37: 1:152277415-152277415
GRCh38: 1:152304939-152304939
30 FLG NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) SNV Pathogenic/Likely Pathogenic
265156 rs115746363 GRCh37: 1:152284886-152284886
GRCh38: 1:152312410-152312410
31 FLG NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) MICROSAT Pathogenic/Likely Pathogenic
Conflicting Interpretations Of Pathogenicity
16320 rs558269137 GRCh37: 1:152285077-152285080
GRCh38: 1:152312601-152312604
32 FLG NM_002016.2(FLG):c.4785_4788del (p.Ser1595fs) DEL Pathogenic/Likely Pathogenic
432814 rs761519693 GRCh37: 1:152282574-152282577
GRCh38: 1:152310098-152310101
33 FLG NM_002016.2(FLG):c.7945del (p.Ser2649fs) DEL Pathogenic/Likely Pathogenic
1027983 rs538406713 GRCh37: 1:152279417-152279417
GRCh38: 1:152306941-152306941
34 FLG NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter) SNV Pathogenic/Likely Pathogenic
522001 rs372754256 GRCh37: 1:152280331-152280331
GRCh38: 1:152307855-152307855
35 FLG NM_002016.2(FLG):c.5717C>A (p.Ser1906Ter) SNV Pathogenic/Likely Pathogenic
225363 rs141784184 GRCh37: 1:152281645-152281645
GRCh38: 1:152309169-152309169
36 FLG-AS1, FLG NM_002016.2(FLG):c.899_903del (p.Asp300fs) DEL Likely Pathogenic
417897 rs1060499587 GRCh37: 1:152286459-152286463
GRCh38: 1:152313983-152313987
37 FLG NM_002016.2(FLG):c.10225C>T (p.Arg3409Ter) SNV Likely Pathogenic
265475 rs201356558 GRCh37: 1:152277137-152277137
GRCh38: 1:152304661-152304661
38 FLG NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) SNV Likely Pathogenic
50930 rs150597413 GRCh37: 1:152277622-152277622
GRCh38: 1:152305146-152305146
39 FLG NM_002016.2(FLG):c.7487del (p.Thr2496fs) DEL Likely Pathogenic
280218 rs774362740 GRCh37: 1:152279875-152279875
GRCh38: 1:152307399-152307399
40 FLG NM_002016.2(FLG):c.10926del (p.Ile3642fs) DEL Likely Pathogenic
1709406 GRCh37: 1:152276436-152276436
GRCh38: 1:152303960-152303960
41 FLG NM_002016.2(FLG):c.2362C>T (p.Arg788Ter) SNV Likely Pathogenic
450522 rs183942200 GRCh37: 1:152285000-152285000
GRCh38: 1:152312524-152312524
42 FLG NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter) SNV Likely Pathogenic
225060 rs147145234 GRCh37: 1:152281123-152281123
GRCh38: 1:152308647-152308647
43 FLG NM_002016.2(FLG):c.1739del (p.Gly580fs) DEL Likely Pathogenic
1184492 GRCh37: 1:152285623-152285623
GRCh38: 1:152313147-152313147
44 FLG NM_002016.2(FLG):c.8885del (p.Gln2962fs) DEL Likely Pathogenic
638422 rs1570897758 GRCh37: 1:152278477-152278477
GRCh38: 1:152306001-152306001
45 FLG NM_002016.2(FLG):c.4925_4928del (p.Ser1642fs) DEL Likely Pathogenic
1334604 GRCh37: 1:152282434-152282437
GRCh38: 1:152309958-152309961
46 FLG NM_002016.2(FLG):c.2933C>A (p.Ser978Ter) SNV Likely Pathogenic
1334744 GRCh37: 1:152284429-152284429
GRCh38: 1:152311953-152311953
47 FLG NM_002016.2(FLG):c.11048del (p.Gly3683fs) DEL Likely Pathogenic
1299511 GRCh37: 1:152276314-152276314
GRCh38: 1:152303838-152303838
48 FLG NM_002016.2(FLG):c.4194_4197del (p.Ser1398fs) DEL Likely Pathogenic
1324408 GRCh37: 1:152283165-152283168
GRCh38: 1:152310689-152310692
49 FLG NM_002016.2(FLG):c.7686del (p.Trp2563fs) DEL Likely Pathogenic
1324409 GRCh37: 1:152279676-152279676
GRCh38: 1:152307200-152307200
50 FLG NM_002016.2(FLG):c.7006C>T (p.Gln2336Ter) SNV Likely Pathogenic
1324410 GRCh37: 1:152280356-152280356
GRCh38: 1:152307880-152307880

Expression for Ichthyosis Vulgaris

Search GEO for disease gene expression data for Ichthyosis Vulgaris.

Pathways for Ichthyosis Vulgaris

Pathways related to Ichthyosis Vulgaris according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 TGM1 SPINK5 LORICRIN KRT14 KRT1 IVL
2
Show member pathways
11.81 TGM1 SPINK5 LORICRIN KRT14 KRT1 IVL
3 11.29 KRT14 KRT1 IVL
4 10.62 ALOXE3 ALOX12B

GO Terms for Ichthyosis Vulgaris

Cellular components related to Ichthyosis Vulgaris according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 9.6 TGM1 LORICRIN KRT14 KRT1 IVL HRNR
2 epidermal lamellar body GO:0097209 9.46 SPINK5 ABCA12
3 keratohyalin granule GO:0036457 9.43 HRNR FLG2 FLG

Biological processes related to Ichthyosis Vulgaris according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 10 ABCA12 CASP14 HRNR IVL KRT1 LORICRIN
2 peptide cross-linking GO:0018149 9.96 TGM1 LORICRIN KRT1 IVL FLG
3 epidermis development GO:0008544 9.88 STS KRT14 CDSN CASP14
4 lipoxygenase pathway GO:0019372 9.78 ALOXE3 ALOX12B
5 hepoxilin biosynthetic process GO:0051122 9.76 ALOXE3 ALOX12B
6 cornification GO:0070268 9.73 TMEM79 CASP14
7 keratinocyte differentiation GO:0030216 9.73 TGM1 LORICRIN KRT14 IVL FLG CDSN
8 skin morphogenesis GO:0043589 9.69 CDSN ABCA12
9 cell envelope organization GO:0043163 9.67 HRNR TGM1
10 establishment of skin barrier GO:0061436 9.53 TMEM79 KRT1 HRNR FLG2 FLG ALOXE3
11 corneocyte desquamation GO:0003336 9.5 CDSN ABCA12
12 icosanoid metabolic process GO:0006690 9.49 ALOXE3 ALOX12B

Molecular functions related to Ichthyosis Vulgaris according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.56 ALOXE3 ALOX12B
2 structural constituent of skin epidermis GO:0030280 9.43 LORICRIN KRT1 FLG
3 dioxygenase activity GO:0051213 9.33 PHYH ALOXE3 ALOX12B
4 transition metal ion binding GO:0046914 9.23 TCHHL1 HRNR FLG2 FLG

Sources for Ichthyosis Vulgaris

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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