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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

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

Disease Browser
Parent Node: Dermatitis, Exfoliative (D003873)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Peeling Skin Syndrome (C564818)
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:

8739

Name:

Peeling Skin Syndrome

Definition:

Alternative IDs:

OMIM:270300

ParentIDs:

MESH:D003873|MESH:D012873

TreeNumbers:

C16.320.850/C564818 |C17.800.174.318/C564818 |C17.800.815.318/C564818 |C17.800.827/C564818

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Skin disease

Reference:

MedGen: C564818
MeSH: C564818
OMIM: 270300;

Genes: CDSN;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0010719	Abnormality of hair texture
4	HP:0001939	Abnormality of metabolism/homeostasis
5	HP:0002099	Asthma
6	HP:0002299	Brittle hair
7	HP:0010783	Erythema
8	HP:0003212	Increased circulating IgE level
9	HP:0001806	Onycholysis
10	HP:0000989	Pruritus
11	HP:0040189	Scaling skin
12	HP:0004322	Short stature

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_001264.4(CDSN):c.746delG (p.Gly249Valfs)	-1	-	Pathogenic	672601343	RCV000144907;	N	MedGen:C1849193,OMIM:270300	6	31084646	31084646	NM_001264.4:c.746delG	NP_001255.3:p.Gly249Valfs	NC_000006.11:g.31084646delC	OMIM Allelic Variant:602593.0004	C1849193 270300 Peeling skin syndrome
NM_001264.4(CDSN):c.424G>T (p.Gly142Ter)	-1	-	Pathogenic	606231275	RCV000144909;	N	MedGen:C1849193,OMIM:270300	6	31084968	31084968	NM_001264.4:c.424G>T	NP_001255.3:p.Gly142Ter	NC_000006.11:g.31084968C>A	OMIM Allelic Variant:602593.0006	C1849193 270300 Peeling skin syndrome
NM_001264.4(CDSN):c.175A>T (p.Lys59Ter)	-1	-	Pathogenic	387906841	RCV000023198;	N	MedGen:C1849193,OMIM:270300	6	31085217	31085217	NM_001264.4:c.175A>T	NP_001255.3:p.Lys59Ter	NC_000006.11:g.31085217T>A	OMIM Allelic Variant:602593.0003	C1849193 270300 Peeling skin syndrome
NM_001264.4(CDSN):c.164_167dupGCCT (p.Thr57Profs)	-1	-	Pathogenic	606231274	RCV000144908;	N	MedGen:C1849193,OMIM:270300	6	31085225	31085228	NM_001264.4:c.164_167dupGCCT	NP_001255.3:p.Thr57Profs	NC_000006.11:g.31085225_31085228dupAGGC	OMIM Allelic Variant:602593.0005	C1849193 270300 Peeling skin syndrome