Ichthyosis Vulgaris disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Congenital ichthyosis

Ichthyosis vulgaris

ICD11: ³³

Diseases of the skin

Genetic and developmental disorders affecting the skin

Genetic disorders of keratinisation

Non-syndromic ichthyosis

Ichthyosis vulgaris

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

SNOMED-CT via HPO ⁶⁹ 16386004 195967001 281104002 more

ICD11 ³³ 841161884

UMLS ⁷¹ C0020757 C0020758 C0079584

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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...

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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:

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Symptoms & Phenotypes for Ichthyosis Vulgaris

Human phenotypes related to Ichthyosis Vulgaris:

³⁰ (show all 7)

#	Description	HPO 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

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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

Synonyms:

(13-cis)-Retinoate

(13-CIS)-RETINOIC ACID

(2E,4E,6E,8E)-3,7-DIMETHYL-9-(2,6,6-TRIMETHYL-1-CYCLOHEXENYL)NONA-2,4,6,8-TETRAENOIC ACID

(2E,4E,6E,8E)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenoate

(2Z,4E,6E,8E)-3,7-DIMETHYL-9-(2,6,6-TRIMETHYLCYCLOHEX-1-EN-1-YL)NONA-2,4,6,8-TETRAENOIC ACID

(7E,9E,11E,13Z)-Retinoate

(7E,9E,11E,13Z)-RETINOIC ACID

(all-e)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate

(all-e)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid

13 cis Retinoic acid

13 CIS-RETINOIC ACID

13-cis-Retinoate

13-cis-Retinoate,isotretinoin

13-CIS-RETINOIC ACID

13-CIS-VITAMIN A ACID

13-RA

3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate

3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid

3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoate (ecl)

3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoic acid (ecl)

Aberel

ABSORICA

ACCUTANE

Acid, all-trans-retinoic

Acid, beta-all-trans-retinoic

Acid, retinoic

Acid, trans-retinoic

Acid, vitamin a

Acide retinoique

ACIDE RETINOIQUE (FRENCH)

ACIDE RETINOIQUE (FRENCH) (DSL)

ACTICIN

AGN 100335

Airol

Aknefug

Aknoten

all trans Retinoic acid

all trans-Retinoic acid

all-(e)-Retinoate

all-(e)-Retinoic acid

all-trans-beta-Retinoate

all-trans-beta-Retinoic acid

all-trans-b-Retinoate

all-trans-b-Retinoic acid

all-trans-Retinoate

all-trans-Retinoic acid

ALL-TRANS-RETINOIC ACID (ATRA)

all-trans-retinoic acid (ATRA)|Altreno® (0.05% lotion)|Avita® (0.025% gel)|Renova® (0.02% cream)

all-trans-Tretinoin

all-trans-Vitamin a acid

all-trans-Vitamin a1 acid

all-trans-Β-retinoate

all-trans-Β-retinoic acid

ALTRENO

AMNESTEEM

ATRA

Atra-IV

Atralin

Avita

beta all trans Retinoic acid

beta-all-trans-Retinoic acid

beta-Retinoate

beta-Retinoic acid

b-Retinoate

b-Retinoic acid

CIP-isotretinoin

CIS-RA

cis-Retinoate

CIS-RETINOIC ACID

CLARAVIS

Dermairol

Eudyna

ISOTRETINOIN

Isotretinoin zinc salt, 13 cis isomer

Isotretinoin zinc salt, 13-cis-isomer

Isotretinoina

Isotretinoína

Isotretinoine

Isotrétinoine

Isotretinoino

Isotretinoinum

ISOTREX

Lsotretinoin

MYORISAN

NEOVITAMIN A ACID

NSC-122758

PAT-001

Potassium salt, tretinoin

Renova

Retin a

Retin-a

Retin-a micro

RETIN-A-MICRO

Retinoate

Retinoic acid

RETINOIC ACID 13-CIS-FORM

Retionic acid

Retisol-a

Ro 1-5488

RO-43780

RO-4-3780

Roaccutan

ROACCUTANE

Roacutan

Salt, tretinoin potassium

Salt, tretinoin sodium

Salt, tretinoin zinc

Sodium salt, tretinoin

Solage

SOTRET

Stieva-a

Stieva-a Forte

Teriosal

trans Retinoic acid

trans-Retinoate

trans-Retinoic acid

Tretin m

Tretinoin

Tretinoin potassium salt

Tretinoin sodium salt

Tretinoin zinc salt

TRETINOIN、ATRA

Tretinoina

Trétinoïne

TRETINOINE (FRENCH)

TRETINOINE (FRENCH) (EINECS)

Tretinoinum

Tretin-X

Tri-Luma

Vesanoid

Vitamin a acid

Vitinoin

ZENATANE

Zinc salt, tretinoin

Β-retinoate

Β-retinoic acid

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

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Genetic Tests for Ichthyosis Vulgaris

Genetic tests related to Ichthyosis Vulgaris:

#	Genetic test	Affiliating Genes
1	Ichthyosis Vulgaris ²⁸	FLG

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Anatomical Context for Ichthyosis Vulgaris

Organs/tissues related to Ichthyosis Vulgaris:

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

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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	Nomura T...Shimizu H	17291859	2007
2	Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. ⁵³ ⁶² ⁵⁷ ⁵	Smith FJ...McLean WH	16444271	2006
3	Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations. ⁵³ ⁶² ⁵	Gruber R...Schmuth M	19785597	2009
4	Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. ⁵³ ⁶² ⁵	Chen H...McLean WH	18239616	2008
5	Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. ⁵³ ⁶² ⁵	Nomura T...McLean WH	18200065	2008
6	Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis. ⁵³ ⁶² ⁵	Liao H...McLean WH	17657246	2007
7	Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. ⁵³ ⁶² ⁵	Sandilands A...Irvine AD	17417636	2007
8	Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. ⁵³ ⁶² ⁵	Weidinger S...Novak N	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	Compton JG...Bale SJ	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	Presland RB...Sundberg JP	11121144	2000
11	Reduced stability and bi-allelic, coequal expression of profilaggrin mRNA in keratinocytes cultured from subjects with ichthyosis vulgaris. ⁵³ ⁶² ⁵⁷	Nirunsuksiri W...Fleckman P	9620289	1998
12	Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017. ⁶² ⁵	Seidl-Philipp M...Gruber R	31642606	2020
13	Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls. ⁶² ⁵	Jeong HS...Agim NG	28730607	2017
14	Filaggrin loss-of-function mutations, atopic dermatitis and risk of actinic keratosis: results from two cross-sectional studies. ⁶² ⁵	Andersen YMF...Thyssen JP	28213896	2017
15	Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis. ⁶² ⁵	Sekiya A...Akiyama M	27519469	2017
16	Filaggrin gene mutations and new SNPs in asthmatic patients: a cross-sectional study in a Spanish population. ⁶² ⁵	Cubero JL...Colas C	27462351	2016
17	Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis. ⁶² ⁵	Mizuno O...Shimizu H	24629053	2015
18	Filaggrin gene mutations in African Americans with both ichthyosis vulgaris and atopic dermatitis. ⁶² ⁵	Polcari I...Paller AS	24920311	2014
19	Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population. ⁶² ⁵	Hu Z...Xia K	22407025	2012
20	Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations. ⁶² ⁵	Chen H...Lane EB	21428977	2011
21	Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. ⁶² ⁵	Gruber R...Schmuth M	21514438	2011
22	Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis. ⁶² ⁵	Zhang H...Yao Z	21039602	2011
23	Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22. ⁶² ⁵⁷	Zhong W...Kong X	12838398	2003
24	Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. ⁶² ⁵⁷	Sybert VP...Holbrook KA	2579164	1985
25	Elevated levels of arylsulfatase C activity in cultured skin fibroblasts of patients with autosomal dominant ichthyosis vulgaris. ⁶² ⁵⁷	Meyer JC...Weiss H	6951797	1982
26	Ichthyosis vulgaris showing features of the autosomal dominant and X-linked recessive variants in the same family. ⁶² ⁵⁷	Mevorah B...Pescia G	668182	1978
27	Ultrastructural distinction of autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis. ⁶² ⁵⁷	Anton-Lamprecht I...Hofbauer M	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	Marinakis NM...Traeger-Synodinos J	34008892	2021
29	Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status. ⁵	Smieszek SP...Polymeropoulos MH	32066784	2020
30	Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. ⁵	Wright CF...Weedon MN	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	Mathyer ME...de Guzman Strong C	29791750	2018
32	Uncommon Filaggrin Variants Are Associated with Persistent Atopic Dermatitis in African Americans. ⁵	Margolis DJ...Nathanson KL	29428354	2018
33	Whole-exome sequencing for diagnosis of hereditary ichthyosis. ⁵	Sitek JC...Retterstol L	29444371	2018
34	Increased Prevalence of Filaggrin Deficiency in 51 Patients with Recessive X-Linked Ichthyosis Presenting for Dermatological Examination. ⁵	Su?muth K...Oji V	29054605	2018
35	The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants. ⁵	Reuter MS...Scherer SW	29431110	2018
36	Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants. ⁵	Wong XFCC...Common JEA	29056476	2018
37	Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. ⁵	Shah K...Ahmad W	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	Debinska A...Boznanski A	29068602	2017
39	Filaggrin loss-of-function mutations as risk factors for ischemic stroke in the general population. ⁵	Varbo A...Benn M	28164424	2017
40	Filaggrin Mutation in Korean Patients with Atopic Dermatitis. ⁵	On HR...Kim SC	28120571	2017
41	The study of filaggrin gene mutations and copy number variation in atopic dermatitis patients from Volga-Ural region of Russia. ⁵	Gimalova GF...Khusnutdinova EK	27363669	2016
42	The prevalence of mutations in the gene encoding filaggrin in the population of Polish patients with atopic dermatitis. ⁵	Wozniak M...Zegarska B	27279822	2016
43	Contact dermatitis in the construction industry: the role of filaggrin loss-of-function mutations. ⁵	Timmerman JG...Smit LA	26451970	2016
44	Novel FLG null mutations in Korean patients with atopic dermatitis and comparison of the mutational spectra in Asian populations. ⁵	Park J...Park YM	25997159	2015
45	Disease variants in genomes of 44 centenarians. ⁵	Freudenberg-Hua Y...Davies P	25333069	2014
46	Exome sequencing of filaggrin and related genes in African-American children with atopic dermatitis. ⁵	Margolis DJ...Mitra N	24608987	2014
47	Severe skin inflammation and filaggrin mutation similarly alter the skin barrier in patients with atopic dermatitis. ⁵	Mocsai G...Szegedi A	24251354	2014
48	Racial comparison of filaggrin null mutations in asthmatic patients with atopic dermatitis in a US population. ⁵	Garrett JP...Margolis DJ	23993222	2013
49	Filaggrin compound heterozygous patients carry mutations in trans position. ⁵	Carlsen BC...Stender S	23947670	2013
50	Filaggrin mutations are strongly associated with contact sensitization in individuals with dermatitis. ⁵	Thyssen JP...Johansen JD	23343419	2013

Sources

Genes for Ichthyosis Vulgaris

Genes related to Ichthyosis Vulgaris (2 elite genes):

(show all 31)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FLG	Filaggrin	Protein Coding	1076.11	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	16444271 16550169 16815158 (more) 17030239 17291859 17417636 17657246 18200065 18239616 18325573 19501237 19538357 19733298 19785597 19839980 19874431 20426775 20573035 20739951 21039602 21365004 21377035 21428977 21514438 21564328 21777221 21923666 21991953 22220561 22403702 22407025 22995991 23039796 23166590 23343419 23352160 23947670 23993222 24251354 24629053 24920311 25333069 25997159 26451970 27279822 27363669 27462351 27519469 28120571 28164424 28213896 28730607 29054605 29056476 29068602 29428354 29431110 29444371 29791750 30665703 31642606 32066784 24608987 29130490 34008892 1720750 7822325 11121144 18049447 19416262 17573887 19958351 19183181 9620289 18455261 19386895 18719604 8460510 7951667 18841000 18620134 18396323 17164798 12473059 19416265 19239468 19681860 16810297 18521703 19037238 17502856 1724895 18420385 7525739 18007582 9990356 19349982
2	FLG-AS1	FLG Antisense RNA 1	RNA Gene	428.9	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
3	LORICRIN	Loricrin Cornified Envelope Precursor Protein	Protein Coding	25.53	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16133457
4	STS	Steroid Sulfatase	Protein Coding	24.47	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11231321 17657246
5	ABCA12	ATP Binding Cassette Subfamily A Member 12	Protein Coding	14.51	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
6	KRT1	Keratin 1	Protein Coding	14.24	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
7	IVL	Involucrin	Protein Coding	13.92	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8733372
8	KRT14	Keratin 14	Protein Coding	11.37	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12230511
9	PHYH	Phytanoyl-CoA 2-Hydroxylase	Protein Coding	10.98	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
10	FLG2	Filaggrin 2	Protein Coding	7.24	DISEASES inferred ¹⁴
11	SPINK5	Serine Peptidase Inhibitor Kazal Type 5	Protein Coding	7.13	DISEASES inferred ¹⁴
12	HRNR	Hornerin	Protein Coding	7.12	DISEASES inferred ¹⁴
13	TGM1	Transglutaminase 1	Protein Coding	7.11	DISEASES inferred ¹⁴
14	CASP14	Caspase 14	Protein Coding	7.1	DISEASES inferred ¹⁴
15	CDSN	Corneodesmosin	Protein Coding	6.91	DISEASES inferred ¹⁴
16	TCHHL1	Trichohyalin Like 1	Protein Coding	6.7	DISEASES inferred ¹⁴
17	NIPAL4	NIPA Like Domain Containing 4	Protein Coding	6.66	DISEASES inferred ¹⁴
18	ALOX12B	Arachidonate 12-Lipoxygenase, 12R Type	Protein Coding	6.65	DISEASES inferred ¹⁴
19	ALOXE3	Arachidonate Lipoxygenase 3	Protein Coding	6.61	DISEASES inferred ¹⁴
20	TMEM79	Transmembrane Protein 79	Protein Coding	6.56	DISEASES inferred ¹⁴
21	KRT10	Keratin 10	Protein Coding	6.5	DISEASES inferred ¹⁴
22	RPTN	Repetin	Protein Coding	6.46	DISEASES inferred ¹⁴
23	ASPRV1	Aspartic Peptidase Retroviral Like 1	Protein Coding	6.43	DISEASES inferred ¹⁴
24	CYP4F22	Cytochrome P450 Family 4 Subfamily F Member 22	Protein Coding	6.4	DISEASES inferred ¹⁴
25	KLK7	Kallikrein Related Peptidase 7	Protein Coding	6.29	DISEASES inferred ¹⁴
26	DSG1	Desmoglein 1	Protein Coding	6.1	DISEASES inferred ¹⁴
27	PNPLA1	Patatin Like Phospholipase Domain Containing 1	Protein Coding	6	DISEASES inferred ¹⁴
28	TCHH	Trichohyalin	Protein Coding	6	DISEASES inferred ¹⁴
29	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	5.85	DISEASES inferred ¹⁴ ¹⁴
30	TSLP	Thymic Stromal Lymphopoietin	Protein Coding	5.83	DISEASES inferred ¹⁴
31	KLK5	Kallikrein Related Peptidase 5	Protein Coding	5.82	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Ichthyosis Vulgaris

Search GEO for disease gene expression data for Ichthyosis Vulgaris.

Sources

Pathways for Ichthyosis Vulgaris

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

#	Super pathways	Score	Top Affiliating Genes
1	Nervous system development ⁶⁶ Show member pathways Axon guidance ⁶⁶ Developmental Biology ⁶⁶	12.97	TGM1 SPINK5 LORICRIN KRT14 KRT1 IVL
2	Keratinization ⁶⁶ Show member pathways Formation of the cornified envelope ⁶⁶	11.81	TGM1 SPINK5 LORICRIN KRT14 KRT1 IVL
3	Corticotropin-releasing hormone signaling pathway ⁷⁴	11.29	KRT14 KRT1 IVL
4	Prostaglandin 2 biosynthesis and metabolism FM ²²	10.62	ALOXE3 ALOX12B

Sources

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

Sources for Ichthyosis Vulgaris

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

VI MCID: ICH001 MIFTS: 55	Ichthyosis Vulgaris (VI) Categories: Genetic diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Ichthyosis Vulgaris (VI)

Aliases & Classifications for Ichthyosis Vulgaris

MalaCards integrated aliases for Ichthyosis Vulgaris:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Ichthyosis Vulgaris

Related Diseases for Ichthyosis Vulgaris

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

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

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

Symptoms & Phenotypes for Ichthyosis Vulgaris

Human phenotypes related to Ichthyosis Vulgaris:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Ichthyosis Vulgaris:

MGI Mouse Phenotypes related to Ichthyosis Vulgaris:

Drugs & Therapeutics for Ichthyosis Vulgaris

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

Interventional clinical trials:

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

Cochrane evidence based reviews: ichthyosis vulgaris

Genetic Tests for Ichthyosis Vulgaris

Genetic tests related to Ichthyosis Vulgaris:

Anatomical Context for Ichthyosis Vulgaris

Organs/tissues related to Ichthyosis Vulgaris:

Publications for Ichthyosis Vulgaris

Articles related to Ichthyosis Vulgaris:

Genes for Ichthyosis Vulgaris

Genes related to Ichthyosis Vulgaris (2 elite genes):

Variations for Ichthyosis Vulgaris

ClinVar genetic disease variations for Ichthyosis Vulgaris:

Expression for Ichthyosis Vulgaris

Pathways for Ichthyosis Vulgaris

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

GO Terms for Ichthyosis Vulgaris

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

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

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

Sources for Ichthyosis Vulgaris

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