Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Hair Diseases (D006201)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Skin Fragility-Woolly Hair Syndrome (C564359)
Child Nodes:
Sister Nodes:
..Actinic Prurigo (C566780)
..Albinism (D000417) 30
..Amyloidosis IX (C562643)
..Amyloidosis, Cutaneous Bullous (C562644)
..Amyloidosis, Primary Cutaneous (C562642)
..Annular Erythema (C562461)
..Arterial Tortuosity Syndrome (C565942)
..Atrophia Maculosa Varioliformis Cutis, Familial (C563349)
..Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..Buschke-Ollendorff syndrome (C537415)
..Collagenosis, Familial Reactive Perforating (C565687)
..Cutis Laxa (D003483) 17
..Darier Disease (D007644) 7
..Dermatitis, Atopic (D003876) 9
..dowling-degos disease (C562924)
..Dyschromatosis universalis hereditaria (C535730)
..Dyschromatosis Universalis Hereditaria 1 (C567273)
..Dyschromatosis Universalis Hereditaria 2 (C567194)
..Dyskeratosis Congenita (D019871) 3
..Ectodermal Dysplasia (D004476) 144
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Erythrokeratodermia Variabilis (D056266) 3
..Erythrokeratodermia with ataxia (C535738)
..Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..Fingerprints, Absence of (C565010)
..Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..Gerodermia osteodysplastica (C537799)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Histiocytic Dermatoarthritis (C564183)
..Hyalinosis, Systemic (D057770)
..Hyaluronan Metabolism, Defect in (C565742)
..Ichthyosiform Erythroderma, Congenital (D016113) 18
..Ichthyosis Bullosa of Siemens (D053560)
..Ichthyosis Vulgaris (D016112) 1
..Ichthyosis, X-Linked (D016114) 2
..Incontinentia Pigmenti (D007184) 2
..Juvenile Spring Eruption of Ears (C566781)
..Keratoderma, Palmoplantar (D007645) 45
..Keratolytic winter erythema (C536155)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Leukokeratosis, Hereditary Mucosal (D053529)
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..Lipoid Proteinosis of Urbach and Wiethe (D008065)
..Monilethrix (D056734) 1
..Muir-Torre Syndrome (D055653)
..Netherton Syndrome (D056770)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Oculotrichodysplasia (C564934)
..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..Orofaciodigital syndrome 9 (C557818)
..Osseous Heteroplasia, Progressive (C562735)
..Osteopoikilosis, Isolated (C563484)
..Parana Hard Skin Syndrome (C564905)
..Peeling Skin Syndrome (C564818)
..Pemphigus, Benign Familial (D016506)
..Perifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Plasminogen Deficiency, Type I (C566897)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Porokeratosis (D017499) 7
..Porphyria, Erythropoietic (D017092)
..Porphyrias, Hepatic (D017094) 14
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Rothmund-Thomson Syndrome (D011038) 5
..Sjogren-Larsson Syndrome (D016111) 1
..Skin Fragility-Woolly Hair Syndrome (C564359)
..Stiff Skin Syndrome (C566112)
..Storm Syndrome (C566109)
..Trichothiodystrophy Syndromes (D054463) 5
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..Vohwinkel Syndrome, Variant Form (C565826)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10287

Name:

Skin Fragility-Woolly Hair Syndrome

Definition:

Alternative IDs:

OMIM:607655

ParentIDs:

MESH:D006201|MESH:D012873

TreeNumbers:

C16.320.850/C564359 |C17.800.329/C564359 |C17.800.827/C564359

Synonyms:

SFWHS

Slim Mappings:

Genetic disease (inborn)|Skin disease

Reference:

MedGen: C564359
MeSH: C564359
OMIM: 607655;

Genes: DSP;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001626	Abnormality of the cardiovascular system
3	HP:0001596	Alopecia
4	HP:0001508	Failure to thrive
5	HP:0001030	Fragile skin
6	HP:0002164	Nail dysplasia
7	HP:0008404	Nail dystrophy
8	HP:0007548	Palmoplantar keratosis with erythema and scale
9	HP:0000535	Sparse and thin eyebrow
10	HP:0000653	Sparse eyelashes
11	HP:0002224	Woolly hair

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_004415.3(DSP):c.861T>G (p.Asn287Lys)	1832	DSP	Pathogenic	121912993	RCV000018333;	N	MedGen:C1843292,OMIM:607655,ORPHA:293165	6	7565675	7565675	NM_004415.3:c.861T>G	NP_004406.2:p.Asn287Lys	NC_000006.11:g.7565675T>G	OMIM Allelic Variant:125647.0004	C1843292 607655 Skin fragility woolly hair syndrome
NM_004415.3(DSP):c.1990C>T (p.Gln664Ter)	1832	DSP	Pathogenic	121912995	RCV000018336;	N	MedGen:C1843292,OMIM:607655,ORPHA:293165	6	7572161	7572161	NM_004415.3:c.1990C>T	NP_004406.2:p.Gln664Ter	NC_000006.11:g.7572161C>T	OMIM Allelic Variant:125647.0007	C1843292 607655 Skin fragility woolly hair syndrome
NM_004415.3(DSP):c.2427T>A (p.Cys809Ter)	1832	DSP	Pathogenic	121912994	RCV000018334;	N	MedGen:C1843292,OMIM:607655,ORPHA:293165	6	7575019	7575019	NM_004415.3:c.2427T>A	NP_004406.2:p.Cys809Ter	NC_000006.11:g.7575019T>A	OMIM Allelic Variant:125647.0005	C1843292 607655 Skin fragility woolly hair syndrome
NM_004415.3(DSP):c.7096C>T (p.Arg2366Cys)	1832	DSP	Pathogenic	28931610	RCV000018335;	N	MedGen:C1843292,OMIM:607655,ORPHA:293165	6	7584591	7584591	NM_004415.3:c.7096C>T	NP_004406.2:p.Arg2366Cys	NC_000006.11:g.7584591C>T	OMIM Allelic Variant:125647.0006	C1843292 607655 Skin fragility woolly hair syndrome
NM_004415.3(DSP):c.7097G>A (p.Arg2366His)	1832	DSP	Pathogenic	387906618	RCV000022523;	N	MedGen:C1843292,OMIM:607655,ORPHA:293165	6	7584592	7584592	NM_004415.3:c.7097G>A	NP_004406.2:p.Arg2366His	NC_000006.11:g.7584592G>A	OMIM Allelic Variant:125647.0013	C1843292 607655 Skin fragility woolly hair syndrome