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	dominant ichthyosis vulgaris

Disease ID	861
Disease	dominant ichthyosis vulgaris
Definition	A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.
Synonym	bcie bie bie - bullous ichthyosiform erythroderma bullous congen ichthyosiform erythroderma bullous congenital ichthyosiform erythroderma bullous erythroderma ichthyosiforme bullous erythroderma ichthyosiformes bullous erythroderma ichthyosiformis congenita of brocq bullous ichthyosiform erythroderma bullous ichthyosiform erythroderma (disorder) bullous ichthyosiform erythroderma congenital bullous ichthyosiform erythrodermas congen bullous ichthyosiform erythroderma congenital bullous ichthyosiform erythroderma congenital ichthyosiform erythroderma, bullous dominant congenital ichthyosiform erythroderma ehk epidermolytic hyperkeratoses epidermolytic hyperkeratosis epidermolytic ichthyosis epidermolytic palmoplantar hyperkeratosis erythroderma ichthyosiforme, bullous erythroderma ichthyosiformes, bullous erythroderma, bullous ichthyosiform erythrodermas, bullous ichthyosiform hyperkeratoses, epidermolytic hyperkeratosis, epidermolytic hyperkeratosis, epidermolytic [disease/finding] ichthyosiform erythroderma bullous congen ichthyosiform erythroderma, bullous ichthyosiform erythroderma, bullous congenital ichthyosiform erythrodermas, bullous ichthyosiforme, bullous erythroderma ichthyosiformes, bullous erythroderma
Orphanet	ORPHANET:312
OMIM	OMIM:113800
DOID	DOID:4603
ICD10	ICD10CM:Q80.3
UMLS	C0079153
MeSH	D017488
SNOMED-CT	SNOMEDCT_US_2016_09_01:254167000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0020757 \| ichthyosis \| 1 C0025202 \| melanoma \| 1 C0035579 \| rickets \| 1 C0334082 \| epidermal nevus \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 3858 \| KRT10 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT 2068 \| ERCC2 \| CTD_human 3848 \| KRT1 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT 2707 \| GJB3 \| CTD_human 127534 \| GJB4 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:22) 224 \| ALDH3A2 \| 1.9 \| DISEASES 347527 \| ARSH \| 1.973 \| DISEASES 488 \| ATP2A2 \| 3.44 \| DISEASES 722 \| C4BPA \| 3.126 \| DISEASES 2108 \| ETFA \| 2.052 \| DISEASES 2312 \| FLG \| 3.479 \| DISEASES 3713 \| IVL \| 3.392 \| DISEASES 3880 \| KRT19 \| 1.21 \| DISEASES 3851 \| KRT4 \| 2.013 \| DISEASES 3853 \| KRT6A \| 3.71 \| DISEASES 3892 \| KRT86 \| 2.441 \| DISEASES 4014 \| LOR \| 4.111 \| DISEASES 7867 \| MAPKAPK3 \| 2.665 \| DISEASES 29943 \| PADI1 \| 3.179 \| DISEASES 11240 \| PADI2 \| 1.942 \| DISEASES 51702 \| PADI3 \| 2.715 \| DISEASES 5339 \| PLEC \| 1.459 \| DISEASES 5537 \| PPP6C \| 1.944 \| DISEASES 6280 \| S100A9 \| 1.093 \| DISEASES 6609 \| SMPD1 \| 1.108 \| DISEASES 8831 \| SYNGAP1 \| 2.091 \| DISEASES 7062 \| TCHH \| 3.124 \| DISEASES
Locus	(Waiting for update.)

Disease ID	861
Disease	dominant ichthyosis vulgaris
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0010816 \| Epidermal nevus \| 1 HP:0002861 \| Melanoma \| 1 HP:0008064 \| Ichthyosis \| 1 HP:0001019 \| Exfoliative dermititis \| 1 HP:0003764 \| Naevus \| 1 HP:0002748 \| Rickets \| 1

Disease ID	861
Disease	dominant ichthyosis vulgaris
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:35)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137853224	NA	3848	KRT1	umls:C0079153	CLINVAR	NA	0.6527677	NA	KRT1	12	52677682	C	G
rs137853225	NA	3848	KRT1	umls:C0079153	CLINVAR	NA	0.6527677	NA	KRT1	12	52676326	A	G
rs267607380	19689541	3858	KRT10	umls:C0079153	BeFree	We report the case of a girl with typical clinical and histopathologic findings of bullous congenital ichthyosiform erythroderma, who was found to have a new mutation in KRT10 gene, Glu445Lys at position 445, affecting the 2B region of the KRT10 protein, the end of the rod domain, where many other keratin mutations associated with hereditary skin disease have been reported.	0.496849259	2009	KRT10;TMEM99	17	40819557	C	T,A
rs56914602	12406348	3848	KRT1	umls:C0079153	UNIPROT	Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis.	0.6527677	2002	KRT1	12	52676293	A	G,C
rs57695159	NA	3848	KRT1	umls:C0079153	CLINVAR	NA	0.6527677	NA	KRT1	12	52679867	A	G
rs57695159	1381288	3848	KRT1	umls:C0079153	UNIPROT	A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis.	0.6527677	1992	KRT1	12	52679867	A	G
rs57784225	7508181	3858	KRT10	umls:C0079153	UNIPROT	Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.	0.496849259	1994	KRT10;TMEM99	17	40822126	T	G
rs57837128	10053007	3848	KRT1	umls:C0079153	UNIPROT	Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.	0.6527677	1999	KRT1	12	52676314	A	G
rs57959072	NA	3848	KRT1	umls:C0079153	CLINVAR	NA	0.6527677	NA	KRT1	12	52679885	A	T,C
rs57959072	7507151	3848	KRT1	umls:C0079153	UNIPROT	Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis.	0.6527677	1994	KRT1	12	52679885	A	T,C
rs58026994	7508181	3858	KRT10	umls:C0079153	UNIPROT	Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.	0.496849259	1994	KRT10;TMEM99	17	40819565	A	T
rs58062863	9856846	3848	KRT1	umls:C0079153	UNIPROT	An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.	0.6527677	1998	KRT1	12	52677425	T	C,A
rs58075662	1380725	3858	KRT10	umls:C0079153	UNIPROT	Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.	0.496849259	1992	KRT10;TMEM99	17	40822119	C	T,G,A
rs58075662	11204523	3848	KRT1	umls:C0079153	BeFree	In this study, we searched for a mutation in KRT1 and KRT10 in a Japanese family with BCIE and detected mutation R156H in KRT10.	0.6527677	2000	KRT10;TMEM99	17	40822119	C	T,G,A
rs58075662	22133519	3858	KRT10	umls:C0079153	BeFree	The concept was first demonstrated by detecting the R156H-mutant gene of keratin 10 in Epidermolytic hyperkeratosis (EHK).	0.496849259	2012	KRT10;TMEM99	17	40822119	C	T,G,A
rs58075662	11204523	3858	KRT10	umls:C0079153	BeFree	Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma.	0.496849259	2000	KRT10;TMEM99	17	40822119	C	T,G,A
rs58414354	7508181	3858	KRT10	umls:C0079153	UNIPROT	Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.	0.496849259	1994	KRT10;TMEM99	17	40822108	A	C
rs58420087	NA	3848	KRT1	umls:C0079153	CLINVAR	NA	0.6527677	NA	KRT1	12	52676305	T	C
rs58420087	7512983	3848	KRT1	umls:C0079153	UNIPROT	Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.	0.6527677	1994	KRT1	12	52676305	T	C
rs58735429	10201536	3858	KRT10	umls:C0079153	UNIPROT	A novel substitution in keratin 10 in epidermolytic hyperkeratosis.	0.496849259	1999	KRT10;TMEM99	17	40822107	T	G
rs58852768	17683385	3858	KRT10	umls:C0079153	BeFree	R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis.	0.496849259	2007	KRT10;TMEM99	17	40822120	G	T,C,A
rs58852768	11990254	3858	KRT10	umls:C0079153	BeFree	A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma.	0.496849259	2002	KRT10;TMEM99	17	40822120	G	T,C,A
rs58852768	7507152	3858	KRT10	umls:C0079153	UNIPROT	Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).	0.496849259	1994	KRT10;TMEM99	17	40822120	G	T,C,A
rs58901407	15583602	3858	KRT10	umls:C0079153	BeFree	The proband was a Japanese woman with bullous congenital ichthyosiform erythroderma harboring a keratin 10 gene mutation M150T.	0.496849259	2004	KRT10;TMEM99	17	40822137	A	G,C
rs58901407	14705805	3858	KRT10	umls:C0079153	BeFree	These findings suggest that a normal CCE is formed during the process of human epidermal keratinization, even if the suprabasal keratin filament network is disrupted as with this particular K10 mutation, M150T in BCIE.	0.496849259	2003	KRT10;TMEM99	17	40822137	A	G,C
rs58901407	21271994	3858	KRT10	umls:C0079153	UNIPROT	Mutation analysis was performed in 28 patients with EI by direct sequencing of KRT1 and KRT10 genes.	0.496849259	2011	KRT10;TMEM99	17	40822137	A	G,C
rs58928370	21271994	3848	KRT1	umls:C0079153	UNIPROT	Mutation analysis was performed in 28 patients with EI by direct sequencing of KRT1 and KRT10 genes.	0.6527677	2011	KRT1	12	52679786	T	G,C
rs59429455	12406348	3848	KRT1	umls:C0079153	UNIPROT	Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis.	0.6527677	2002	KRT1	12	52679785	G	T
rs59429455	NA	3848	KRT1	umls:C0079153	CLINVAR	NA	0.6527677	NA	KRT1	12	52679785	G	T
rs60022878	7507152	3848	KRT1	umls:C0079153	UNIPROT	Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).	0.6527677	1994	KRT1	12	52679793	A	G
rs60118264	1380725	3858	KRT10	umls:C0079153	UNIPROT	Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.	0.496849259	1992	KRT10;TMEM99	17	40822104	A	G
rs60279707	1380725	3848	KRT1	umls:C0079153	UNIPROT	Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.	0.6527677	1992	KRT1	12	52676282	C	T,G
rs60937700	7507151	3848	KRT1	umls:C0079153	UNIPROT	Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis.	0.6527677	1994	KRT1	12	52679772	A	G
rs61434181	7512983	3858	KRT10	umls:C0079153	UNIPROT	Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.	0.496849259	1994	KRT10;TMEM99	17	40819575	T	C,A
rs61549035	10844506	3848	KRT1	umls:C0079153	UNIPROT	Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene.	0.6527677	2000	KRT1	12	52678707	A	G

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:0)
(Waiting for update.)

Disease ID	861
Disease	dominant ichthyosis vulgaris
Case	(Waiting for update.)