eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	ichthyosis vulgaris

Disease ID	240
Disease	ichthyosis vulgaris
Definition	Most common form of ICHTHYOSIS characterized by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait.
Synonym	dominant congenital ichthyosiform erythroderma (disorder) ichthyosis simplex ichthyosis simplices ichthyosis vulgaris (disorder) ichthyosis vulgaris [disease/finding] ichthyosis vulgaris, dominant
OMIM	OMIM:146700
DOID	DOID:1702
ICD10	ICD10CM:Q80.0
UMLS	C0079584
MeSH	D016112
SNOMED-CT	SNOMEDCT_US_2016_09_01:254157005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0013595 \| eczema \| 1 C0011615 \| atopic eczema \| 1 C0027726 \| nephrotic syndrome \| 1 C0035579 \| rickets \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2312 \| FLG \| CLINVAR;CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2312 \| FLG \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:27) 51099 \| ABHD5 \| 1.951 \| DISEASES 224 \| ALDH3A2 \| 1.968 \| DISEASES 226 \| ALDOA \| 2.165 \| DISEASES 347527 \| ARSH \| 2.041 \| DISEASES 488 \| ATP2A2 \| 1.268 \| DISEASES 633 \| BGN \| 1.316 \| DISEASES 722 \| C4BPA \| 2.326 \| DISEASES 50489 \| CD207 \| 1.719 \| DISEASES 1041 \| CDSN \| 2.266 \| DISEASES 387836 \| CLEC2A \| 1.799 \| DISEASES 1506 \| CTRL \| 1.231 \| DISEASES 2312 \| FLG \| 7.404 \| DISEASES 388698 \| FLG2 \| 3.931 \| DISEASES 2707 \| GJB3 \| 2.918 \| DISEASES 127534 \| GJB4 \| 2.622 \| DISEASES 2853 \| GPR31 \| 3.537 \| DISEASES 3713 \| IVL \| 3.49 \| DISEASES 5650 \| KLK7 \| 2.815 \| DISEASES 3851 \| KRT4 \| 2.081 \| DISEASES 3853 \| KRT6A \| 2.261 \| DISEASES 4014 \| LOR \| 3.915 \| DISEASES 4536 \| MT-ND2 \| 1.804 \| DISEASES 9241 \| NOG \| 1.22 \| DISEASES 7827 \| NPHS2 \| 1.146 \| DISEASES 11005 \| SPINK5 \| 1.639 \| DISEASES 6700 \| SPRR2A \| 3.244 \| DISEASES 7053 \| TGM3 \| 1.877 \| DISEASES
Locus	(Waiting for update.)

Disease ID	240
Disease	ichthyosis vulgaris
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:3) HP:0000976 \| Eczematoid dermatitis HP:0002099 \| Asthma HP:0008064 \| Ichthyosis
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0000964 \| Eczema \| 1 HP:0000100 \| Nephrosis \| 1 HP:0002748 \| Rickets \| 1

Disease ID	240
Disease	ichthyosis vulgaris
Manually Symptom	UMLS \| Name(Total Manually Symptoms:7) C2607914 \| allergic rhinitis C2364133 \| infection C1832097 \| epidermal differentiation complex C1274449 \| tinea corporis due to trichophyton rubrum C0936250 \| eczema herpeticum C0854723 \| retinal dystrophy C0155196 \| cicatricial ectropion
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:3)
Gene	Mutation	DOI	Article Title
FLG	c.2282_2285delCAGT	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
FLG	p.R501X	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
FLG	p.R501X*	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121909626	NA	2312	FLG	umls:C0079584	CLINVAR	NA	0.272841923	NA	FLG	1	152307225	G	C
rs558269137	NA	2312	FLG	umls:C0079584	CLINVAR	NA	0.272841923	NA	FLG;FLG-AS1	1	152312601	ACTG	-
rs61816761	16815158	2312	FLG	umls:C0079584	BeFree	Recently, 2 loss-of-function mutations (R501X and 2282derl4) in the filaggrin gene (FLG) that cause ichthyosis vulgaris, one of the most common inherited skin disorders of keratinization, have been reported to be strong predisposing factors for AD.	0.272841923	2006	FLG;FLG-AS1	1	152313385	G	A,T
rs61816761	NA	2312	FLG	umls:C0079584	CLINVAR	NA	0.272841923	NA	FLG;FLG-AS1	1	152313385	G	A,T
rs61816761	20943104	2312	FLG	umls:C0079584	BeFree	To target and amplify a 1.5 kb FLG gene fragment known to carry R501X mutation responsible for causing ichthyosis vulgaris.	0.272841923	2010	FLG;FLG-AS1	1	152313385	G	A,T
rs61816761	17573887	2312	FLG	umls:C0079584	BeFree	Two loss-of-function mutations in the filaggrin (FLG) gene, R501X and 2282del4, were identified as causative for ichthyosis vulgaris in 15 affected European families, and the mode of inheritance was found to be semidominant.	0.272841923	2007	FLG;FLG-AS1	1	152313385	G	A,T
rs61816761	17164798	2312	FLG	umls:C0079584	BeFree	Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.	0.272841923	2007	FLG;FLG-AS1	1	152313385	G	A,T
rs797045090	NA	2312	FLG	umls:C0079584	CLINVAR	NA	0.272841923	NA	FLG;FLG-AS1	1	152312743	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000976	Eczematoid dermatitis	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0002099	Asthma	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0008064	Ichthyosis	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone

Disease ID	240
Disease	ichthyosis vulgaris
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter