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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: Abnormalities, Multiple (D000015)
Parent Node: Ichthyosiform Erythroderma, Congenital (D016113)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Netherton Syndrome (D056770)
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:

7913

Name:

Netherton Syndrome

Definition:

Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene.

Alternative IDs:

OMIM:256500

ParentIDs:

MESH:D000015|MESH:D012873|MESH:D016113

TreeNumbers:

C16.131.077.619 |C16.131.831.512.400.705 |C16.320.850.400.705 |C16.320.850.673 |C16.614.492.400.705 |C17.800.428.333.250.705 |C17.800.804.512.400.705 |C17.800.827.400.705 |C17.800.827.655

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Skin disease

Reference:

MedGen: D056770
MeSH: D056770
OMIM: 256500;

Genes: SPINK5;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003011	Abnormality of the musculature
3	HP:0003193	Allergic rhinitis
4	HP:0100665	Angioedema
5	HP:0002099	Asthma
6	HP:0002299	Brittle hair
7	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
8	HP:0001019	Erythroderma
9	HP:0001508	Failure to thrive
10	HP:0001263	Global developmental delay
11	HP:0004906	Hypernatremic dehydration
12	HP:0003212	Increased circulating IgE level
13	HP:0002719	Recurrent infections
14	HP:0000535	Sparse and thin eyebrow
15	HP:0002209	Sparse scalp hair
16	HP:0001025	Urticaria
17	HP:0011473	Villous atrophy

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_006846.3(SPINK5):c.283-2A>T	11005	SPINK5	Pathogenic	587777749	RCV000005583;	N	MedGen:C0265962,OMIM:256500,ORPHA:634	5	147465966	147465966	NM_006846.3:c.283-2A>T		5:g.147465966A>T	OMIM Allelic Variant:605010.0002	C0265962 256500 Netherton syndrome
NM_006846.3(SPINK5):c.2368C>T (p.Arg790Ter)	11005	SPINK5	Pathogenic	121908387	RCV000005582;	N	MedGen:C0265962,OMIM:256500,ORPHA:634	5	147499626	147499626	NM_006846.3:c.2368C>T	NP_006837.2:p.Arg790Ter	NC_000005.9:g.147499626C>T	OMIM Allelic Variant:605010.0001	C0265962 256500 Netherton syndrome
NM_006846.3(SPINK5):c.2468dupA (p.Lys824Glufs)	11005	SPINK5	Pathogenic	587777750	RCV000005584;	N	MedGen:C0265962,OMIM:256500,ORPHA:634	5	147499884	147499884	NM_006846.3:c.2468dupA	NP_006837.2:p.Lys824Glufs		OMIM Allelic Variant:605010.0003	C0265962 256500 Netherton syndrome
NM_001127698.1(SPINK5):c.2812_2813delGT (p.Val938Cysfs)	11005	SPINK5	Uncertain significance	797045108	RCV000190627;	N	MedGen:C0265962,OMIM:256500,ORPHA:634	5	147505159	147505160	NM_001127698.1:c.2812_2813delGT	NP_001121170.1:p.Val938Cysfs		-	C0265962 256500 Netherton syndrome