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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Collagen Diseases (D003095)
Parent Node: Epidermolysis Bullosa (D004820)
..Starting node ..Epidermolysis Bullosa Dystrophica (D016108)
Child Nodes:
........Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive (C567122)
........Epidermolysis Bullosa Dystrophica Neurotrophica (C562637)
........Epidermolysis Bullosa Dystrophica With Subcorneal Cleavage (C567272)
........Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant (C567121)
........Epidermolysis bullosa dystrophica, Pasini type (C535956)
........Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails (C562638)
........Epidermolysis bullosa, pretibial (C535494)
........Transient bullous dermolysis of the newborn (C536979)
Sister Nodes:
..Bullous Dystrophy, Hereditary Macular Type (C563065)
..Epidermolysis Bullosa Acquisita (D016107)
..Epidermolysis Bullosa Dystrophica (D016108) 8
..Epidermolysis Bullosa Pruriginosa (C563192)
..Epidermolysis Bullosa Simplex (D016110) 8
..Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase (C565049)
..Epidermolysis Bullosa With Diaphragmatic Hernia (C565588)
..Epidermolysis Bullosa, Junctional (D016109) 2
..Epidermolysis bullosa, lethal acantholytic (C535493)
..Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (C563798)
..Poikiloderma of Kindler (C536321)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3820

Name:

Epidermolysis Bullosa Dystrophica

Definition:

Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.

Alternative IDs:

OMIM:226600

ParentIDs:

MESH:D003095|MESH:D004820

TreeNumbers:

C16.131.831.493.160 |C16.320.850.275.160 |C17.300.200.367 |C17.800.804.493.160 |C17.800.827.275.160 |C17.800.865.410.160

Synonyms:

Slim Mappings:

Congenital abnormality|Connective tissue disease|Genetic disease (inborn)|Skin disease

Reference:

MedGen: D016108
MeSH: D016108
OMIM: 226600;

Genes: COL7A1; MMP1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0008066	Abnormal blistering of the skin
4	HP:0001596	Alopecia
5	HP:0001903	Anemia
6	HP:0001075	Atrophic scars
7	HP:0000518	Cataract
8	HP:0000509	Conjunctivitis
9	HP:0002019	Constipation
10	HP:0000559	Corneal scarring
11	HP:0002015	Dysphagia
12	HP:0006297	Enamel hypoplasia
13	HP:0002043	Esophageal stricture
14	HP:0001371	Flexion contracture
15	HP:0001030	Fragile skin
16	HP:0001510	Growth delay
17	HP:0004395	Malnutrition
18	HP:0001056	Milia
19	HP:0004057	Mitten deformity
20	HP:0002164	Nail dysplasia
21	HP:0008404	Nail dystrophy
22	HP:0000160	Narrow mouth
23	HP:0005203	Spontaneous esophageal perforation
24	HP:0002860	Squamous cell carcinoma

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000094.3(COL7A1):c.8393T>A (p.Met2798Lys)	1294	COL7A1	Pathogenic	121912828	RCV000018969;	N	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004	3	48603714	48603714	NM_000094.3:c.8393T>A	NP_000085.1:p.Met2798Lys	NC_000003.11:g.48603714A>T	OMIM Allelic Variant:120120.0001	C0079474 226600 Recessive dystrophic epidermolysis bullosa
NM_000094.3(COL7A1):c.8371C>T (p.Arg2791Trp)	1294	COL7A1	Likely pathogenic	142566193	RCV000193478;	N	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004	3	48603736	48603736	NM_000094.3:c.8371C>T	NP_000085.1:p.Arg2791Trp	NC_000003.11:g.48603736G>A	-	C0079474 226600 Recessive dystrophic epidermolysis bullosa
NM_000094.3(COL7A1):c.8245G>A (p.Gly2749Arg)	1294	COL7A1	Pathogenic	121912853	RCV000019011;	N	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004	3	48604152	48604152	NM_000094.3:c.8245G>A	NP_000085.1:p.Gly2749Arg	NC_000003.11:g.48604152C>T	OMIM Allelic Variant:120120.0038	C0079474 226600 Recessive dystrophic epidermolysis bullosa
NM_000094.3(COL7A1):c.7957G>A (p.Gly2653Arg)	1294	COL7A1	Pathogenic	121912851	RCV000019009;	N	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004	3	48605169	48605169	NM_000094.3:c.7957G>A	NP_000085.1:p.Gly2653Arg	NC_000003.11:g.48605169C>T	OMIM Allelic Variant:120120.0036	C0079474 226600 Recessive dystrophic epidermolysis bullosa
NM_000094.3(COL7A1):c.7411C>T (p.Arg2471Ter)	1294	COL7A1	Pathogenic	121912852	RCV000019010;	N	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004	3	48607737	48607737	NM_000094.3:c.7411C>T	NP_000085.1:p.Arg2471Ter	NC_000003.11:g.48607737G>A	OMIM Allelic Variant:120120.0037	C0079474 226600 Recessive dystrophic epidermolysis bullosa
NM_000094.3(COL7A1):c.6859G>A (p.Gly2287Arg)	1294	COL7A1	Pathogenic	121912839	RCV000018998; RCV000022473;	N	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004; MedGen:C1843761,OMIM:607523	3	48610145	48610145	NM_000094.3:c.6859G>A	NP_000085.1:p.Gly2287Arg	NC_000003.11:g.48610145C>T	OMIM Allelic Variant:120120.0023	C1843761 607523 Nail disorder, nonsyndromic congenital, 8; C0079474 226600 Recessive dystrophic epidermolysis bullosa
NM_000094.3(COL7A1):c.6187C>T (p.Arg2063Trp)	1294	COL7A1	Pathogenic	121912849	RCV000019007;	N	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004	3	48612669	48612669	NM_000094.3:c.6187C>T	NP_000085.1:p.Arg2063Trp	NC_000003.11:g.48612669G>A	OMIM Allelic Variant:120120.0034	C0079474 226600 Recessive dystrophic epidermolysis bullosa
NM_000094.3(COL7A1):c.6091G>A (p.Gly2031Ser)	1294	COL7A1	Pathogenic	121912838	RCV000018997;	N	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004	3	48612861	48612861	NM_000094.3:c.6091G>A	NP_000085.1:p.Gly2031Ser	NC_000003.11:g.48612861C>T	OMIM Allelic Variant:120120.0022	C0079474 226600 Recessive dystrophic epidermolysis bullosa
NM_000094.3(COL7A1):c.5000G>A (p.Gly1667Glu)	1294	COL7A1	Uncertain significance	864321654	RCV000203512;	N	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004	3	48618066	48618066	NM_000094.3:c.5000G>A	NP_000085.1:p.Gly1667Glu	NC_000003.11:g.48618066C>T	-	C0079474 226600 Recessive dystrophic epidermolysis bullosa
NM_000094.3(COL7A1):c.4980+1G>C	1294	COL7A1	Likely pathogenic	730880285	RCV000157650;	N	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004	3	48618314	48618314	NM_000094.3:c.4980+1G>C		NC_000003.11:g.48618314C>G	-	C0079474 226600 Recessive dystrophic epidermolysis bullosa
NM_000094.3(COL7A1):c.4783G>C (p.Gly1595Arg)	1294	COL7A1	Pathogenic	121912840	RCV000018993; RCV000022474;	N	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004; MedGen:C1843761,OMIM:607523	3	48618916	48618916	NM_000094.3:c.4783G>C	NP_000085.1:p.Gly1595Arg	NC_000003.11:g.48618916C>G	OMIM Allelic Variant:120120.0024	C1843761 607523 Nail disorder, nonsyndromic congenital, 8; C0079474 226600 Recessive dystrophic epidermolysis bullosa
NM_000094.3(COL7A1):c.3504delC (p.Leu1169Terfs)	1294	COL7A1	Likely pathogenic	730880286	RCV000157651;	N	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004	3	48623811	48623811	NM_000094.3:c.3504delC	NP_000085.1:p.Leu1169Terfs	NC_000003.11:g.48623811delG	-	C0079474 226600 Recessive dystrophic epidermolysis bullosa
NM_000094.3(COL7A1):c.933C>A (p.Tyr311Ter)	1294	COL7A1	Pathogenic	121912830	RCV000018973;	N	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004	3	48630046	48630046	NM_000094.3:c.933C>A	NP_000085.1:p.Tyr311Ter	NC_000003.11:g.48630046G>T	OMIM Allelic Variant:120120.0005	C0079474 226600 Recessive dystrophic epidermolysis bullosa
NM_000094.3(COL7A1):c.706C>T (p.Arg236Ter)	1294	COL7A1	Pathogenic	121912854	RCV000019014; RCV000019013;	N	MedGen:C0079474,OMIM:226600,SNOMED CT:48528004; MedGen:C2673612	3	48630348	48630348	NM_000094.3:c.706C>T	NP_000085.1:p.Arg236Ter	NC_000003.11:g.48630348G>A	OMIM Allelic Variant:120120.0040	C2673612 Epidermolysis bullosa dystrophica inversa, autosomal recessive; C0079474 226600 Recessive dystrophic epidermolysis bullosa