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VI
MCID: ICH001
MIFTS: 55

Ichthyosis Vulgaris (VI)

Categories: Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Ichthyosis Vulgaris

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MalaCards integrated aliases for Ichthyosis Vulgaris:

Name: Ichthyosis Vulgaris 56 12 74 52 73 36 29 13 54 6 43 15 39 71 32
Ichthyosis Simplex 56 52 73
Congenital Ichthyosis 71 32
Dominant Congenital Ichthyosiform Erythroderma 12
Fish Scale Disease 52
Common Ichthyosis 52
Ichthyoses 71
Vi 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ichthyosis vulgaris:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:1702
OMIM 56 146700
KEGG 36 H00735
MeSH 43 D016112
NCIt 49 C84778
SNOMED-CT 67 20512000
ICD10 32 Q80 Q80.0 Q80.9
MedGen 41 C0079584
UMLS 71 C0020757 C0020758 C0079584
Sources

Summaries for Ichthyosis Vulgaris

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NIH Rare Diseases : 52 Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid , salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.

MalaCards based summary : Ichthyosis Vulgaris, also known as ichthyosis simplex, is related to ichthyosis, congenital, autosomal recessive 2 and ichthyosis, congenital, autosomal recessive 4a, and has symptoms including trichorrhexis invaginata An important gene associated with Ichthyosis Vulgaris is FLG (Filaggrin), and among its related pathways/superpathways are Developmental Biology and Keratinization. The drugs Protective Agents and Monolaurin have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and bone, and related phenotypes are asthma and eczematoid dermatitis

Disease Ontology : 12 An ichthyosis that has material basis in heterozygous mutation in the filaggrin gene on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface.

OMIM : 56 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)

KEGG : 36 Ichthyosis vulgaris is one of the most common genetic keratinization disorder characterized by follicular keratosis and grey scaling on the flexor limbs. It is caused by defective synthesis of filaggrin that leads to reduction of keratohyalin granules in epidermis. The condition is inherited in an autosomal dominant pattern.

UniProtKB/Swiss-Prot : 73 Ichthyosis vulgaris: 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.

Wikipedia : 74 Ichthyosis vulgaris (also known as "Autosomal dominant ichthyosis," and "Ichthyosis simplex") is a skin... more...

Sources

Related Diseases for Ichthyosis Vulgaris

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

(show top 50) (show all 1536)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 2 34.0 ALOXE3 ALOX12B
2 ichthyosis, congenital, autosomal recessive 4a 33.5 TGM1 LORICRIN KRT14 ABCA12
3 self-improving collodion baby 32.8 TGM1 ALOXE3 ALOX12B
4 ichthyosis, congenital, autosomal recessive 7 32.5 TGM1 NIPAL4 ALOXE3 ALOX12B ABCA12
5 erythroderma, ichthyosiform, congenital reticular 32.1 KRT10 KRT1
6 ichthyosis, congenital, autosomal recessive 4b 32.0 TGM1 NIPAL4 LORICRIN IVL FLG ALOXE3
7 ichthyosis bullosa of siemens 31.5 KRT10 KRT1
8 ichthyosis, cyclic, with epidermolytic hyperkeratosis 31.3 KRT10 KRT1
9 dermatitis 31.2 SPINK5 LORICRIN IVL FLG
10 autosomal dominant epidermolytic ichthyosis 31.1 KRT10 KRT1
11 keratosis 30.7 KRT10 KRT1 IVL FLG ABCA12
12 palmoplantar keratosis 30.4 LORICRIN KRT10 KRT1
13 irritant dermatitis 30.3 LORICRIN IVL FLG
14 tinea corporis 30.3 FLG ALOXE3
15 dermatitis, atopic, 2 30.2 LORICRIN FLG-AS1 FLG CDSN
16 lichen planus 30.1 KRT10 KRT1 IVL FLG
17 epidermolysis bullosa dystrophica 30.1 KRT14 IVL FLG
18 sjogren-larsson syndrome 30.1 ALOXE3 ALDH3A2
19 nevus, epidermal 30.1 KRT10 KRT1 IVL
20 dermatitis, atopic 30.0 SPINK5 LORICRIN KRT14 IVL FLG-AS1 FLG
21 molluscum contagiosum 29.9 LORICRIN IVL FLG
22 chondrodysplasia punctata syndrome 29.8 STS PHYH
23 ectropion 29.7 TGM1 NIPAL4 ALOXE3 ALOX12B ABCA12
24 ichthyosis, x-linked 29.4 TGM1 STS NIPAL4 FLG ALOXE3 ALOX12B
25 cholesteatoma of middle ear 29.3 KRT14 KRT10 IVL FLG
26 epidermolysis bullosa 29.2 LORICRIN KRT14 KRT10 KRT1 IVL FLG
27 papilloma 29.2 KRT14 KRT10 KRT1 IVL FLG
28 netherton syndrome 29.1 TGM1 SPINK5 GBA FLG CDSN
29 erythrokeratodermia variabilis et progressiva 1 28.9 TGM1 NIPAL4 LORICRIN KRT1 ABCA12
30 basal cell carcinoma 28.8 KRT14 KRT10 KRT1 IVL
31 ichthyosis, congenital, autosomal recessive 1 28.7 TGM1 NIPAL4 LORICRIN ALOXE3 ALOX12B ABCA12
32 psoriasis 28.2 TGM1 LORICRIN KRT14 KRT10 KRT1 IVL
33 skin disease 27.9 TGM1 STS SPINK5 LORICRIN KRT14 KRT10
34 epidermolytic hyperkeratosis 27.7 TGM1 NIPAL4 LORICRIN KRT14 KRT10 KRT1
35 ichthyosis 26.6 TGM1 STS SPINK5 PHYH NIPAL4 LORICRIN
36 autosomal recessive congenital ichthyosis 24.7 TGM1 STS SPINK5 NIPAL4 LORICRIN KRT10
37 mucopolysaccharidosis, type vi 12.9
38 glycogen storage disease vi 12.8
39 collagen vi-related myopathy 12.6
40 osteogenesis imperfecta, type vi 12.6
41 orofaciodigital syndrome vi 12.6
42 neuropathy, hereditary sensory and autonomic, type vi 12.6
43 collagen vi related muscular dystrophy 12.5
44 ichthyosis, congenital, autosomal recessive 11 12.4
45 ichthyosis, congenital, autosomal recessive 9 12.4
46 ichthyosis, congenital, autosomal recessive 3 12.3
47 cataract and congenital ichthyosis 12.3
48 ichthyosis, congenital, autosomal recessive 10 12.3
49 ichthyosis, congenital, autosomal recessive 6 12.3
50 ichthyosis, congenital, autosomal recessive 8 12.3

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
Sources

Symptoms & Phenotypes for Ichthyosis Vulgaris

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Human phenotypes related to Ichthyosis Vulgaris:

31
# Description HPO Frequency HPO Source Accession
1 asthma 31 frequent (33%) HP:0002099
2 eczematoid dermatitis 31 frequent (33%) HP:0000976
3 ichthyosis 31 HP:0008064

Symptoms via clinical synopsis from OMIM:

56
Skin:
ichthyosis vulgaris
ichthyosis simplex

Misc:
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

Clinical features from OMIM:

146700

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 9.73 ABCA12 ALDH3A2 ALOX12B ALOXE3 CASP14 GBA
2 integument MP:0010771 9.36 ABCA12 ALDH3A2 ALOX12B ALOXE3 CASP14 GBA
Sources

Drugs & Therapeutics for Ichthyosis Vulgaris

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

(show all 13)
# 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
10
carbamide peroxide Approved 124-43-6
11 Yellow Dock
12 Anti-Infective Agents, Local
13 Anti-Infective Agents

Interventional clinical trials:

(show all 15)
# 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 Randomized, Double-blind, Vehicle-controlled Study to Evaluate the Safety and Efficacy of 146-9251 Cream Applied Twice-daily for Six Weeks in Subjects With Ichthyosis Vulgaris Active, not recruiting NCT03173547 Phase 2 146-9251 cream;Vehicle cream
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 Active, not recruiting NCT03041038 Phase 2 Secukinumab;Placebo
8 Open-label, Pilot Study to Assess Cholesterol-Lovastatin Solution in the Treatment of Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
9 Research Registry for Inherited Disorders of Keratinization Unknown status NCT00074685
10 Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population Completed NCT01016106
11 Standardized Skin Care Regimen in the Diaper Area: a Prospective, Randomized Clinical Study on Skin Barrier Function and Epidermal IL-1α Completed NCT01131403
12 Prospective Evaluation of Infants and Children With Congenital Ichthyosis Recruiting NCT02655861
13 Studies of Skin Microflora in Healthy Individuals and Atopic Dermatitis Patients Recruiting NCT00605878
14 Prevalence of Ophthalmological Abnormalities in Children and Adults Suffering From Hereditary Ichthyosis Recruiting NCT03464994
15 Double Blinded Randomized Clinical Study of Carbamide as Moisturizer in Ichthyosis Vulgaris Enrolling by invitation NCT02978209

Search NIH Clinical Center for Ichthyosis Vulgaris

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


ammonium lactate

Cochrane evidence based reviews: ichthyosis vulgaris

Sources

Genetic Tests for Ichthyosis Vulgaris

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Genetic tests related to Ichthyosis Vulgaris:

# Genetic test Affiliating Genes
1 Ichthyosis Vulgaris 29 FLG
Sources

Anatomical Context for Ichthyosis Vulgaris

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MalaCards organs/tissues related to Ichthyosis Vulgaris:

40
Skin, Heart, Bone, Thyroid, Brain, Kidney, Breast
Sources

Publications for Ichthyosis Vulgaris

About this section

Articles related to Ichthyosis Vulgaris:

(show top 50) (show all 477)
# Title Authors PMID Year
1
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. 54 61 56 6
17291859 2007
2
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. 54 61 56 6
16444271 2006
3
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. 54 61 6
16815158 2006
4
Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1. 54 61 56
12473059 2002
5
Loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice: an animal model for the filaggrin-deficient skin disease ichthyosis vulgaris. 54 61 56
11121144 2000
6
Reduced stability and bi-allelic, coequal expression of profilaggrin mRNA in keratinocytes cultured from subjects with ichthyosis vulgaris. 54 61 56
9620289 1998
7
Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22. 61 56
12838398 2003
8
Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. 61 56
2579164 1985
9
Elevated levels of arylsulfatase C activity in cultured skin fibroblasts of patients with autosomal dominant ichthyosis vulgaris. 61 56
6951797 1982
10
Ichthyosis vulgaris showing features of the autosomal dominant and X-linked recessive variants in the same family. 61 56
668182 1978
11
Ultrastructural distinction of autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis. 61 56
4117150 1972
12
Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march. 6
17030239 2006
13
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. 6
16550169 2006
14
The human arylsulfatase-C isoenzymes: two distinct genes that escape from X inactivation. 56
1690506 1990
15
Association of steroid sulfatase with one of the arylsulfatase C isozymes in human fibroblasts. 56
3464600 1986
16
Ichthyosis. Genetic heterogeneity, genodermatoses, and genetic counseling. 56
3707167 1986
17
Electron microscopy in the early diagnosis of genetic disorders of the skin. 56
78862 1978
18
Inherited ichthyoses. 56
4247927 1970
19
Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. 56
20790920 1966
20
Genetic classification of ichthyosis. 56
11850936 1965
21
FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics. 54 61
19958351 2010
22
Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations. 54 61
19785597 2009
23
Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children. 54 61
19681860 2009
24
Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations. 54 61
19416262 2009
25
Ichthyosiform eruptions in association with primary cutaneous T-cell lymphomas. 54 61
19416265 2009
26
Filaggrin in the frontline: role in skin barrier function and disease. 54 61
19386895 2009
27
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. 54 61
19349982 2009
28
Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. 54 61
19037238 2009
29
Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population. 54 61
19239468 2009
30
Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup. 54 61
19183181 2009
31
Evolving concepts of pathogenesis in atopic dermatitis and other eczemas. 54 61
18719604 2009
32
Filaggrin mutation c.3321delA in a Korean patient with ichthyosis vulgaris and atopic dermatitis. 54 61
18841000 2009
33
Sequence analysis of filaggrin gene by novel shotgun method in Japanese atopic dermatitis. 54 61
18420385 2008
34
Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. 54 61
18239616 2008
35
Clinical detection of ichthyosis vulgaris in an atopic dermatitis clinic: implications for allergic respiratory disease and prognosis. 54 61
18455261 2008
36
Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. 54 61
18200065 2008
37
Atopic eczema and the filaggrin story. 54 61
18620134 2008
38
Loss-of-function mutations in the filaggrin gene and allergic contact sensitization to nickel. 54 61
18049447 2008
39
Filaggrin mutations, atopic eczema, hay fever, and asthma in children. 54 61
18396323 2008
40
De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis. 54 61
18007582 2008
41
Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case-control study. 54 61
18521703 2008
42
Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis. 54 61
17657246 2007
43
On the role of the epidermal differentiation complex in ichthyosis vulgaris, atopic dermatitis and psoriasis. 54 61
17573887 2007
44
Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis. 54 61
17502856 2007
45
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. 54 61
17417636 2007
46
Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris. 54 61
17164798 2007
47
Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. 54 61
16810297 2006
48
Structural changes in epidermal scale and appendages as indicators of defective TGM1 activity. 54 61
16133457 2005
49
Expression of transglutaminase 5 in normal and pathologic human epidermis. 54 61
12230511 2002
50
Deletion of exons 1-5 of the STS gene causing X-linked ichthyosis. 54 61
11231321 2001
Sources

Variations for Ichthyosis Vulgaris

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ClinVar genetic disease variations for Ichthyosis Vulgaris:

6 (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLG NM_002016.1(FLG):c.9887C>A (p.Ser3296Ter)SNV Pathogenic 225360 rs761212672 1:152277475-152277475 1:152304999-152304999
2 FLG NM_002016.1(FLG):c.7189C>T (p.Gln2397Ter)SNV Pathogenic 225361 rs535289422 1:152280173-152280173 1:152307697-152307697
3 FLG NM_002016.1(FLG):c.3905C>A (p.Ser1302Ter)SNV Pathogenic 225362 rs754812742 1:152283457-152283457 1:152310981-152310981
4 FLG NM_002016.1(FLG):c.2143C>T (p.Gln715Ter)SNV Pathogenic 208582 rs797045090 1:152285219-152285219 1:152312743-152312743
5 FLG NM_002016.1(FLG):c.7661C>G (p.Ser2554Ter)SNV Pathogenic,risk factor 16321 rs121909626 1:152279701-152279701 1:152307225-152307225
6 FLG NM_002016.1(FLG):c.7339C>T (p.Arg2447Ter)SNV Pathogenic 50932 rs138726443 1:152280023-152280023 1:152307547-152307547
7 FLG NM_002016.1(FLG):c.9947C>G (p.Ser3316Ter)SNV Pathogenic 279933 rs149484917 1:152277415-152277415 1:152304939-152304939
8 FLG NM_002016.1(FLG):c.94G>T (p.Glu32Ter)SNV Pathogenic 280469 rs114733570 1:152287839-152287839 1:152315363-152315363
9 FLG NM_002016.1(FLG):c.3321del (p.Gly1109fs)deletion Pathogenic 420115 rs200519781 1:152284041-152284041 1:152311565-152311565
10 FLG NM_002016.1(FLG):c.487G>T (p.Gly163Ter)SNV Pathogenic 523875 rs1214424848 1:152286875-152286875 1:152314399-152314399
11 FLG NM_002016.1(FLG):c.9740C>A (p.Ser3247Ter)SNV Pathogenic/Likely pathogenic 50930 rs150597413 1:152277622-152277622 1:152305146-152305146
12 FLG NM_002016.1(FLG):c.1501C>T (p.Arg501Ter)SNV Pathogenic/Likely pathogenic 16319 rs61816761 1:152285861-152285861 1:152313385-152313385
13 FLG NM_002016.1(FLG):c.5717C>A (p.Ser1906Ter)SNV Likely pathogenic 225363 rs141784184 1:152281645-152281645 1:152309169-152309169
14 FLG NM_002016.2(FLG):c.8885del (p.Gln2962fs)deletion Likely pathogenic 638422 1:152278477-152278477 1:152306001-152306001
15 FLG NM_002016.1(FLG):c.899_903del (p.Asp300fs)deletion Likely pathogenic 417897 rs1060499587 1:152286459-152286463 1:152313983-152313987
16 FLG NM_002016.1(FLG):c.2282_2285delCAGTshort repeat Conflicting interpretations of pathogenicity 16320 rs558269137 1:152285077-152285080 1:152312601-152312604
17 FLG NM_002016.1(FLG):c.7801G>A (p.Asp2601Asn)SNV Conflicting interpretations of pathogenicity 445660 rs146849256 1:152279561-152279561 1:152307085-152307085
18 FLG NM_002016.1(FLG):c.12064A>T (p.Lys4022Ter)SNV Conflicting interpretations of pathogenicity 126848 rs146466242 1:152275298-152275298 1:152302822-152302822
19 FLG NM_002016.1(FLG):c.2476C>T (p.Arg826Ter)SNV Conflicting interpretations of pathogenicity 265156 rs115746363 1:152284886-152284886 1:152312410-152312410
20 FLG NM_002016.1(FLG):c.4279G>A (p.Ala1427Thr)SNV Uncertain significance 374307 rs148844389 1:152283083-152283083 1:152310607-152310607
21 FLG NM_002016.1(FLG):c.2379_2394delinsTCCTCAG (p.Leu794_Ser798delinsProGln)indel Uncertain significance 547860 rs1553213630 1:152284968-152284983 1:152312492-152312507
22 FLG NM_002016.1(FLG):c.6032_6034del (p.Leu2011del)deletion Uncertain significance 587579 rs770070270 1:152281328-152281330 1:152308852-152308854
23 FLG NM_002016.2(FLG):c.9658G>C (p.Asp3220His)SNV Benign 694498 1:152277704-152277704 1:152305228-152305228
Sources

Expression for Ichthyosis Vulgaris

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Search GEO for disease gene expression data for Ichthyosis Vulgaris.
Sources

Pathways for Ichthyosis Vulgaris

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

# Super pathways Score Top Affiliating Genes
1
Developmental Biology 65
Show member pathways
 12.87 TGM1 SPINK5 LORICRIN KRT14 KRT10 KRT1
2
Keratinization 65
Show member pathways
 11.78 TGM1 SPINK5 LORICRIN KRT14 KRT10 KRT1
3
Corticotropin-releasing hormone signaling pathway 1
11.3 KRT14 KRT1 IVL
4
Prostaglandin 2 biosynthesis and metabolism FM 22
10.62 ALOXE3 ALOX12B
Sources

GO Terms for Ichthyosis Vulgaris

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.13 TGM1 SPINK5 PHYH LORICRIN KRT14 KRT10
2 intermediate filament GO:0005882 9.56 KRT14 KRT10 KRT1 FLG
3 keratin filament GO:0045095 9.54 KRT14 KRT1 CASP14
4 cornified envelope GO:0001533 9.23 TGM1 LORICRIN KRT10 KRT1 IVL HRNR
5 epidermal lamellar body GO:0097209 9.16 SPINK5 ABCA12
6 keratohyalin granule GO:0036457 8.96 HRNR FLG

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.93 STS GBA ALOXE3 ALOX12B ALDH3A2
2 fatty acid metabolic process GO:0006631 9.8 PHYH ALOXE3 ALOX12B ALDH3A2
3 peptide cross-linking GO:0018149 9.8 TGM1 LORICRIN KRT10 KRT1 IVL FLG
4 epidermis development GO:0008544 9.77 STS KRT14 CDSN CASP14 ALDH3A2
5 establishment of skin barrier GO:0061436 9.73 KRT1 HRNR FLG ALOXE3 ALOX12B ABCA12
6 keratinocyte differentiation GO:0030216 9.7 TGM1 LORICRIN KRT10 IVL FLG CDSN
7 sphingolipid metabolic process GO:0006665 9.65 GBA ALOXE3 ALOX12B
8 keratinization GO:0031424 9.61 TGM1 LORICRIN KRT14 KRT10 KRT1 IVL
9 ceramide biosynthetic process GO:0046513 9.58 GBA ALOXE3 ALOX12B
10 linoleic acid metabolic process GO:0043651 9.56 ALOXE3 ALOX12B
11 lipoxygenase pathway GO:0019372 9.55 ALOXE3 ALOX12B
12 skin morphogenesis GO:0043589 9.52 GBA CDSN
13 fatty acid alpha-oxidation GO:0001561 9.51 PHYH ALDH3A2
14 hepoxilin biosynthetic process GO:0051122 9.46 ALOXE3 ALOX12B
15 cell envelope organization GO:0043163 9.43 TGM1 HRNR
16 cornification GO:0070268 9.32 TGM1 SPINK5 LORICRIN KRT14 KRT10 KRT1

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

# Name GO ID Score Top Affiliating Genes
1 transition metal ion binding GO:0046914 9.26 HRNR FLG
2 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.16 ALOXE3 ALOX12B
3 dioxygenase activity GO:0051213 9.13 PHYH ALOXE3 ALOX12B
4 structural constituent of epidermis GO:0030280 8.92 LORICRIN KRT10 KRT1 FLG
Sources

Sources for Ichthyosis Vulgaris

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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