PedAM

Pediatric Disease Annotations & Medicines


	epidermolysis bullosa simplex

Disease ID	68
Disease	epidermolysis bullosa simplex
Definition	A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.
Synonym	bullosa simplices, epidermolysis epidermolysis bullosa simplex (disorder) epidermolysis bullosa simplex [disease/finding] epidermolysis bullosa simplices
Orphanet	ORPHANET:304
DOID	DOID:4644
ICD10	ICD10CM:Q81.0
UMLS	C0079298
MeSH	D016110
SNOMED-CT	SNOMEDCT_US_2016_09_01:67144006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0026850 \| muscular dystrophy \| 15 C0878544 \| cardiomyopathy \| 2 C0007193 \| dilated cardiomyopathy \| 1 C0029089 \| ophthalmoplegia \| 1 C0005745 \| ptosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) KRT14 \| 3861 \| CTD_human;GHR ITGB4 \| 3691 \| CTD_human PLEC \| 5339 \| GHR KRT5 \| 3852 \| CTD_human;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 3852 \| KRT5 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:64) 5318 \| PKP2 \| DISEASES 3861 \| KRT14 \| DISEASES 3691 \| ITGB4 \| DISEASES 55612 \| FERMT1 \| DISEASES 412 \| STS \| DISEASES 9333 \| TGM5 \| DISEASES 4741 \| NEFM \| DISEASES 8985 \| PLOD3 \| DISEASES 1846 \| DUSP4 \| DISEASES 54800 \| KLHL24 \| DISEASES 5184 \| PEPD \| DISEASES 667 \| DST \| DISEASES 3857 \| KRT9 \| DISEASES 2678 \| GGT1 \| DISEASES 3859 \| KRT12 \| DISEASES 3852 \| KRT5 \| DISEASES 3848 \| KRT1 \| DISEASES 3854 \| KRT6B \| DISEASES 3866 \| KRT15 \| DISEASES 5317 \| PKP1 \| DISEASES 4811 \| NID1 \| DISEASES 23086 \| EXPH5 \| DISEASES 3858 \| KRT10 \| DISEASES 52 \| ACP1 \| DISEASES 1848 \| DUSP6 \| DISEASES 1824 \| DSC2 \| DISEASES 10898 \| CPSF4 \| DISEASES 1145 \| CHRNE \| DISEASES 5913 \| RAPSN \| DISEASES 3868 \| KRT16 \| DISEASES 8419 \| BFSP2 \| DISEASES 121391 \| KRT74 \| DISEASES 3872 \| KRT17 \| DISEASES 6363 \| CCL19 \| DISEASES 3849 \| KRT2 \| DISEASES 3728 \| JUP \| DISEASES 4026 \| LPP \| DISEASES 64388 \| GREM2 \| DISEASES 5339 \| PLEC \| DISEASES 404203 \| SPINK6 \| DISEASES 1294 \| COL7A1 \| DISEASES 1308 \| COL17A1 \| DISEASES 8717 \| TRADD \| DISEASES 84706 \| GPT2 \| DISEASES 26151 \| NAT9 \| DISEASES 11221 \| DUSP10 \| DISEASES 4014 \| LOR \| DISEASES 3713 \| IVL \| DISEASES 2312 \| FLG \| DISEASES 1847 \| DUSP5 \| DISEASES 5236 \| PGM1 \| DISEASES 5081 \| PAX7 \| DISEASES 631 \| BFSP1 \| DISEASES 643394 \| SPINK9 \| DISEASES 1832 \| DSP \| DISEASES 3853 \| KRT6A \| DISEASES 2875 \| GPT \| DISEASES 1500 \| CTNND1 \| DISEASES 728441 \| GGT2 \| DISEASES 3850 \| KRT3 \| DISEASES 5053 \| PAH \| DISEASES 3851 \| KRT4 \| DISEASES 3892 \| KRT86 \| DISEASES 11012 \| KLK11 \| DISEASES
Locus	(Waiting for update.)

Disease ID	68
Disease	epidermolysis bullosa simplex
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:14) HP:0002664 \| Neoplasm HP:0001000 \| Abnormality of skin pigmentation HP:0008391 \| Dystrophic fingernails HP:0000982 \| Palmoplantar keratoderma HP:0001597 \| Abnormality of the nail HP:0001810 \| Dystrophic toenail HP:0002021 \| Pyloric stenosis HP:0001531 \| Failure to thrive in infancy HP:0008386 \| Aplasia/Hypoplasia of the nails HP:0001231 \| Abnormality of the fingernails HP:0200042 \| Skin ulcer HP:0008066 \| Abnormal blistering of the skin HP:0000962 \| Hyperkeratosis HP:0000987 \| Atypical scarring of skin
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:12) HP:0003560 \| Muscular dystrophy \| 15 HP:0001070 \| Mottled pigmentation \| 9 HP:0001638 \| Cardiomyopathy \| 2 HP:0007081 \| Late-onset muscular dystrophy \| 1 HP:0010783 \| Erythema \| 1 HP:0000508 \| Drooping upper eyelid \| 1 HP:0001644 \| Congestive cardiomyopathy \| 1 HP:0000602 \| Ophthalmoplegia \| 1 HP:0002224 \| Woolly hair \| 1 HP:0200037 \| Skin vesicle \| 1 HP:0011664 \| Left ventricular non-compaction cardiomyopathy \| 1 HP:0001010 \| Hypopigmentation of the skin \| 1

Disease ID	68
Disease	epidermolysis bullosa simplex
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0870082 \| hyperkeratosis C0155119 \| recurrent corneal erosion C0010034 \| corneal disease
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:18)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs11170164	20849457	3852	KRT5	umls:C0079298	BeFree	A transient epidermolysis bullosa simplex-like phenotype associated with bexarotene treatment in a G138E KRT5 heterozygote.	0.15418532	2010	KRT5	12	52519884	C	T
rs267607392	20030639	3861	KRT14	umls:C0079298	BeFree	Novel mutations were found in two patients with the EBS-Dowling-Meara variant (EBS-DM) [KRT14-p.Ser128Pro and KRT14-p.Gln374_Leu387dup(14)] and in three patients with localized EBS (KRT14-p.Leu136Pro and KRT5-p.Val143Ala).	0.151003963	2010	KRT14	17	41586428	A	T,G
rs267607392	20030639	3852	KRT5	umls:C0079298	BeFree	Novel mutations were found in two patients with the EBS-Dowling-Meara variant (EBS-DM) [KRT14-p.Ser128Pro and KRT14-p.Gln374_Leu387dup(14)] and in three patients with localized EBS (KRT14-p.Leu136Pro and KRT5-p.Val143Ala).	0.15418532	2010	KRT14	17	41586428	A	T,G
rs267607396	20030639	3861	KRT14	umls:C0079298	BeFree	Novel mutations were found in two patients with the EBS-Dowling-Meara variant (EBS-DM) [KRT14-p.Ser128Pro and KRT14-p.Gln374_Leu387dup(14)] and in three patients with localized EBS (KRT14-p.Leu136Pro and KRT5-p.Val143Ala).	0.151003963	2010	KRT14	17	41586453	A	G
rs267607396	20030639	3852	KRT5	umls:C0079298	BeFree	Novel mutations were found in two patients with the EBS-Dowling-Meara variant (EBS-DM) [KRT14-p.Ser128Pro and KRT14-p.Gln374_Leu387dup(14)] and in three patients with localized EBS (KRT14-p.Leu136Pro and KRT5-p.Val143Ala).	0.15418532	2010	KRT14	17	41586453	A	G
rs267607412	15102078	3872	KRT17	umls:C0079298	BeFree	This mutation predicts the substitution of asparagine by aspartic acid in codon 109 (N109D) located in the second half of the keratin 17 1A domain, where similar mutation in keratin 5 is associated with the mild Weber-Cockayne form of epidermolysis bullosa simplex.	0.000271442	2004	KRT17	17	41624185	T	C
rs267607412	15102078	3852	KRT5	umls:C0079298	BeFree	This mutation predicts the substitution of asparagine by aspartic acid in codon 109 (N109D) located in the second half of the keratin 17 1A domain, where similar mutation in keratin 5 is associated with the mild Weber-Cockayne form of epidermolysis bullosa simplex.	0.15418532	2004	KRT17	17	41624185	T	C
rs267607435	19220453	3852	KRT5	umls:C0079298	BeFree	A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of epidermolysis bullosa simplex.	0.15418532	2009	KRT5	12	52519123	G	C
rs57364972	10733662	3861	KRT14	umls:C0079298	BeFree	In this way, three novel mutations could be identified, Y415H, L419Q, and E422K, all located in the helix termination motif of the keratin 14 rod domain 2B, resulting in moderate, severe, and mild epidermolysis bullosa simplex phenotype, respectively.	0.151003963	2000	KRT14	17	41583253	A	T
rs58380626	10733662	3861	KRT14	umls:C0079298	BeFree	In this way, three novel mutations could be identified, Y415H, L419Q, and E422K, all located in the helix termination motif of the keratin 14 rod domain 2B, resulting in moderate, severe, and mild epidermolysis bullosa simplex phenotype, respectively.	0.151003963	2000	KRT14	17	41583266	A	G
rs58762773	10733662	3861	KRT14	umls:C0079298	BeFree	In this way, three novel mutations could be identified, Y415H, L419Q, and E422K, all located in the helix termination motif of the keratin 14 rod domain 2B, resulting in moderate, severe, and mild epidermolysis bullosa simplex phenotype, respectively.	0.151003963	2000	KRT14	17	41583245	C	T
rs58766676	14723728	3852	KRT5	umls:C0079298	BeFree	A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex.	0.15418532	2004	KRT5	12	52519120	T	G,C,A
rs59464425	10782015	3852	KRT5	umls:C0079298	BeFree	K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne).	0.15418532	2000	KRT5	12	52517698	G	T
rs59851104	20030639	3852	KRT5	umls:C0079298	BeFree	Novel mutations were found in two patients with the EBS-Dowling-Meara variant (EBS-DM) [KRT14-p.Ser128Pro and KRT14-p.Gln374_Leu387dup(14)] and in three patients with localized EBS (KRT14-p.Leu136Pro and KRT5-p.Val143Ala).	0.15418532	2010	KRT5	12	52519869	A	T,G
rs59851104	20030639	3861	KRT14	umls:C0079298	BeFree	Novel mutations were found in two patients with the EBS-Dowling-Meara variant (EBS-DM) [KRT14-p.Ser128Pro and KRT14-p.Gln374_Leu387dup(14)] and in three patients with localized EBS (KRT14-p.Leu136Pro and KRT5-p.Val143Ala).	0.151003963	2010	KRT5	12	52519869	A	T,G
rs60399023	25830653	3861	KRT14	umls:C0079298	BeFree	Co-expression of K5 and a K14(R125C) mutant that causes the most severe form of EBS resulted in widespread formation of EBS-like cytoplasmic keratin aggregates in epithelial and non-epithelial fly tissues.	0.151003963	2015	KRT14	17	41586462	G	C,A
rs60399023	25830653	3852	KRT5	umls:C0079298	BeFree	Co-expression of K5 and a K14(R125C) mutant that causes the most severe form of EBS resulted in widespread formation of EBS-like cytoplasmic keratin aggregates in epithelial and non-epithelial fly tissues.	0.15418532	2015	KRT14	17	41586462	G	C,A
rs60399023	21967011	3861	KRT14	umls:C0079298	BeFree	Atypical epidermolysis bullosa simplex with a missense keratin 14 mutation p.Arg125Cys.	0.151003963	2011	KRT14	17	41586462	G	C,A

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

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

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001000	Abnormality of skin pigmentation	MP:0002075	abnormal coat/hair pigmentation;HP:0001231	Abnormality of the fingernails

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002664	Neoplasm	MP:0005402	abnormal action potential;HP:0200042	Skin ulcer

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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