NS
MCID: NTH001
MIFTS: 63

Netherton Syndrome (NS) malady

Eye diseases, Skin diseases categories

Summaries for Netherton Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis), which can be life-threatening. Affected babies may also fail to grow and gain weight at the expected rate (failure to thrive). The health of older children and adults with Netherton syndrome usually improves, although they often remain underweight and of short stature.

MalaCards: Netherton Syndrome, also known as netherton disease, is related to dermatitis and atopic dermatitis, and has symptoms including absent/decreased/thin eyebrows, dry/squaly skin/exfoliation and cutaneous rash. An important gene associated with Netherton Syndrome is SPINK5 (serine peptidase inhibitor, Kazal type 5). The compounds 4-nitroanilide and elastatinal have been mentioned in the context of this disorder. Affiliated tissues include skin, b cells and eye, and related mouse phenotypes are immune system and integument.

NIH Rare Diseases:42 Netherton syndrome is a type of ichthyosis. symptoms vary but commonly include inflamed, red, scaly skin, short, brittle, lustreless hair, and a predisposition to allergy problems (e.g., to nuts, hay fever, and asthma).  symptoms may be mild or severe and tend to present in infancy. failure to thrive and recurrent infection are possible complications in infants with this syndrome. netherton syndrome is caused by mutations in the spink5 gene. it is inherited in an autosomal recessive fashion. last updated: 9/14/2011

Wikipedia:63 Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the... more...

Description from OMIM:46 256500,310465

Aliases & Classifications for Netherton Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 20GeneTests, 22GTR, 34MeSH, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
netherton syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

netherton syndrome 8 9 42 21 46 10 44 48
netherton disease 42 20 22 21
n syndrome 46 10 60
ichthyosis linearis circumflexa 21 60
bamboo hair syndrome 21 48
neth 42 21
ns 21 48
ichthyosiform erythroderma with hypotrichosis and hyper-ige 21
comèl-netherton syndrome 48
comel-netherton syndrome 21
ilc 21


External Ids:

Disease Ontology8 DOID:0050474
OMIM46 256500
MeSH34 D056770
SNOMED-CT via Orphanet57 312514006, 22486004
ICD10 via Orphanet26 Q80.3

Related Diseases for Netherton Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Netherton Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1dermatitis30.3FLG, DSC1, TSLP, IGHE, DSG1
2atopic dermatitis30.3KLK7, FLG, IGHE, CDSN, SPINK5, TSLP
3congenital ichthyosiform erythroderma30.2SPINK5, TGM1
4skin disease30.2KLK7, TGM3, TGM1, SPINK5, CDSN, IGHE
5pancreatitis30.0ELANE, SPINK1
6ichthyosis vulgaris30.0FLG, TGM1
7acute pancreatitis30.0ELANE, SPINK1
8psoriasis30.0KLK7, PI3, FLG, CDSN, SPINK5, ELANE
9ichthyosis linearis circumflexa10.7
10influenza10.5
11n syndrome10.4
12hair disease10.4
13dwarfism10.4
14noonan-like/multiple giant cell lesion syndrome10.3
15avian influenza10.2
16exfoliation syndrome10.2
17adult syndrome10.2
18noonan syndrome10.1
19nephrotic syndrome10.1
20pseudohypoparathyroidism10.1
21noonan syndrome 110.1
22molluscum contagiosum10.0
23acrodermatitis10.0
24rickets10.0
25hypertension10.0
26hypothyroidism10.0
27melanoma10.0
28skin melanoma10.0
29autosomal recessive congenital ichthyosis10.0TGM1
30sinusitis10.0IGHE
31eosinophilic esophagitis10.0TSLP
32rhinitis10.0IGHE
33extrinsic allergic alveolitis10.0IGHE, PI3
34eczema herpeticum10.0IGHE, TSLP
35harlequin type ichthyosis10.0FLG, TGM1
36alcoholic pancreatitis10.0ELANE, SPINK1
37contact dermatitis10.0IGHE, FLG
38arthritis10.0FLG, CTSG
39keratoderma10.0DSG1, TGM1
40bronchiectasis10.0CTSG, IGHE, ELANE
41keratosis10.0FLG
42subcorneal pustular dermatosis10.0DSC1, DSG1
43x-linked ichthyosis10.0FLG
44adult respiratory distress syndrome10.0CTSG, ELANE
45pulmonary disease, chronic obstructive10.0CTSG, PI3, ELANE
46bullous pemphigoid10.0FLG, DSG1, IGHE
47allergic rhinitis10.0FLG, IGHE, TSLP
48atopy10.0TSLP, SPINK5, IGHE, FLG
49pemphigus10.0DSG1, DSC1
50allergic asthma10.0TSLP, IGHE, FLG

Graphical network of the top 20 diseases related to Netherton Syndrome:



Diseases related to netherton syndrome

Clinical Features for Netherton Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

256500,310465

Clinical synopsis from OMIM:

256500

Symptoms:

48 (show all 28)
  • absent/decreased/thin eyebrows
  • dry/squaly skin/exfoliation
  • cutaneous rash
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • ectopic/horseshoe/fused kidneys
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • aminoacid metabolism anomalies/aminoaciduria
  • short stature/dwarfism/nanism
  • dehydration/hydroelectrolytic loss
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • seizures/epilepsy/absences/spasms/status epilepticus
  • eczema
  • urticaria
  • irregular/in bands/reticular skin hyperpigmentation
  • acanthosis nigricans
  • hair and scalp anomalies
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • fine hair
  • brittle hair/distrix/trichorrhexis
  • malabsorption/chronic diarrhea/steatorrhea
  • asthma/bronchospasm
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • severe allergic reaction/atopy
  • autosomal recessive inheritance
  • emphysema
  • repeat respiratory infections
  • ichthyosis/ichthyosiform dermatitis

Drugs & Therapeutics for Netherton Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Netherton Syndrome

Drug clinical trials:

Search ClinicalTrials for Netherton Syndrome

Search NIH Clinical Center for Netherton Syndrome

Search CenterWatch for Netherton Syndrome

Genetic Tests for Netherton Syndrome

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Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Netherton Syndrome:

id Genetic test Affiliating Genes
1 Netherton Syndrome20 22 SPINK5

Anatomical Context for Netherton Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Netherton Syndrome:

32
Skin, B cells, Eye, Kidney, Testes, Thymus

Animal Models for Netherton Syndrome or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Netherton Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.2FLG, DSC1, IGHE, CDSN, SPINK1, SPINK5
2MP:00107718.0TGM3, FLG, DSC1, CDSN, SPINK1, SPINK5

Publications for Netherton Syndrome

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Sources:
50PubMed
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Articles related to Netherton Syndrome:

(show top 50)    (show all 106)
idTitleAuthorsYear
1
Phase I study protocol for ex-vivo lentiviral gene therapy for the inherited skin disease, Netherton Syndrome. (24138501)
2013
2
Netherton syndrome: skin inflammation and allergy by loss of protease inhibition. (23344365)
2013
3
Complete Maternal Isodisomy of Chromosome 5 in a Japanese Patient with Netherton Syndrome. (24042343)
2013
4
Case of Netherton syndrome with an elevated serum thymus and activation-regulated chemokine level. (23802543)
2013
5
Netherton syndrome - Why ENT surgeons should be aware of this rare disease - report of a case. (23829563)
2013
6
Netherton syndrome with multiple non-melanoma skin cancers. (23571873)
2013
7
Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, netherton syndrome. (24329107)
2013
8
Intercellular Skin Barrier Lipid Composition and Organization in Netherton Syndrome Patients. (24292773)
2013
9
The identification of a new role for LEKTI in the skin: The use of protein 'bait' arrays to detect defective trafficking of dermcidin in the skin of patients with Netherton syndrome. (22588119)
2012
10
Narrowband ultraviolet B phototherapy associated with improvement in Netherton syndrome. (22582910)
2012
11
Anesthetic considerations in Netherton Syndrome. (22380746)
2012
12
Successful induction of oral tolerance in Netherton syndrome. (21962899)
2012
13
Picture of the month. ComA"l-Netherton syndrome without bamboo hair. (21810639)
2011
14
Netherton syndrome: A rare genodermatosis. (23130216)
2011
15
Surgical management of a giant condyloma of Buschke-LAPwenstein in a patient with Netherton syndrome using the pedicled anterolateral thigh flap--a case report. (21463975)
2011
16
Proteolytic activation cascade of the Netherton syndrome-defective protein, LEKTI, in the epidermis: implications for skin homeostasis. (21697885)
2011
17
New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome. (21564178)
2011
18
Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing. (20179351)
2010
19
A new SPINK5 donor splice site mutation in siblings with Netherton syndrome. (20107740)
2010
20
Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome. (19414552)
2009
21
Caspase-1 activity of stratum corneum and serum interleukin-18 level are increased in patients with Netherton syndrome. (18616770)
2008
22
An infant with Netherton syndrome and persistent pulmonary hypertension requiring extracorporeal membrane oxygenation. (18577046)
2008
23
Netherton syndrome: mutation analysis of two Taiwanese families. (17415575)
2007
24
Cushing syndrome from percutaneous absorption of 1% hydrocortisone ointment in Netherton syndrome. (17300648)
2007
25
Netherton syndrome: successful use of topical tacrolimus and pimecrolimus in four siblings. (17343588)
2007
26
Netherton syndrome]. (16956571)
2006
27
A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome. (16901309)
2006
28
Low but detectable serum levels of tacrolimus seen with the use of very dilute, extemporaneously compounded formulations of tacrolimus ointment in the treatment of patients with netherton syndrome. (17043199)
2006
29
Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome. (16628198)
2006
30
Comel-Netherton syndrome in brothers and expression of cytokeratins. (15793546)
2005
31
Acute pancreatitis in a young girl with the Netherton syndrome. (16291148)
2005
32
Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity. (15619623)
2005
33
Topical pimecrolimus: a novel therapeutic option for Netherton syndrome. (16225628)
2005
34
SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases. (15304086)
2004
35
Generalized exfoliative erythroderma since birth. Netherton syndrome. (15492197)
2004
36
Netherton syndrome. (14673256)
2003
37
Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis. (11857617)
2002
38
Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing. (11952552)
2002
39
ComA"l-Netherton syndrome and peeling skin syndrome type B: overlapping syndromes or one entity? (12100700)
2002
40
Significant absorption of topical tacrolimus in 3 patients with Netherton syndrome. (11405764)
2001
41
Increasing the likelihood of early diagnosis of Netherton syndrome by simple examination of eyebrow hairs. (10724214)
2000
42
Netherton syndrome is not linked to 18q12, a region homologous to the murine lanceolate hair (lah) locus. (10745035)
2000
43
Altered lamellar body secretion and stratum corneum membrane structure in Netherton syndrome: differentiation from other infantile erythrodermas and pathogenic implications. (10411158)
1999
44
Selective antibody deficiency to bacterial polysaccharide antigens in patients with Netherton syndrome. (10027993)
1999
45
ComA"l-Netherton syndrome complicated by papillomatous skin lesions containing human papillomaviruses 51 and 52 and plane warts containing human papillomavirus 16. (10354085)
1999
46
Acute bilateral renal vein thrombosis complicating Netherton syndrome. (9504792)
1998
47
Netherton syndrome presenting as congenital psoriasis. (9436849)
1997
48
Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome. (8806118)
1996
49
ComA"l-Netherton syndrome. (7999614)
1994
50
What syndrome is this? Netherton syndrome. (1534889)
1992

Genetic Variations for Netherton Syndrome

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Expression for genes affiliated with Netherton Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Netherton Syndrome

Search GEO for disease gene expression data for Netherton Syndrome.

Pathways for genes affiliated with Netherton Syndrome

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Compounds for genes affiliated with Netherton Syndrome

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44Novoseek, 2BitterDB, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB
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Compounds related to Netherton Syndrome according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
14-nitroanilide4410.4CTSG, ELANE
2elastatinal4410.4CTSG, ELANE
3tlck4410.4CTRL, ELANE
4saccharin44 211.4CTSG, ELANE
53,4-dichloroisocoumarin44 1111.4ELANE, CTRL
6tannins4410.3ELANE, CTRL
7dithranol4410.3FLG, PI3
8bromelain4410.3IGHE, ELANE
9ovomucoid4410.3IGHE, ELANE
10chymostatin4410.3CTSG, CTRL, ELANE
11(4-aminophenyl)mercuric acetate4410.3ELANE, CTSG
12pmsf4410.3ELANE, CTRL, CTSG
13thermolysin4410.2ELANE, CTSG
14phosphoramidon44 1111.2CTSG, CTRL, ELANE
15diisopropylfluorophosphate4410.2CTSG, CTRL, ELANE
16hocl4410.2CTSG, ELANE
17trypsinogen4410.1SPINK1, ELANE
18epsilon aminocaproic acid4410.1CTSG, ELANE
19aprotinin44 1111.0CTSG, IGHE, ELANE
20aebsf4410.0CTRL, ELANE
21allergens4410.0TSLP, IGHE, FLG
22urea44 11 2412.0FLG, CTRL, CTSG
23sodium dodecylsulfate449.9CTSG, CTRL, PI3, ELANE, TGM1
24histamine44 28 2411.8CTSG, CTRL, PI3, IGHE
25calcipotriol44 59 28 1112.7FLG, TGM1
26cysteine449.5CTSG, CTRL, PI3, FLG, SLC26A2, ELANE
27arginine449.4TGM1, IGHE, FLG, CTRL, CTSG
28serine449.0KLK5, KLK7, CTSG, CTRL, PI3, FLG
29retinoic acid44 249.4TGM1, KLK7, CTSG, CTRL, PI3, FLG
30calcium44 49 11 2411.3KLK7, CTSG, CTRL, PI3, FLG, DSC1

GO Terms for genes affiliated with Netherton Syndrome

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16Gene Ontology
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Cellular components related to Netherton Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:00153310.0TGM1, CDSN
2epidermal lamellar bodyGO:0972099.8SPINK5, KLK7, KLK5
3desmosomeGO:0300579.2DSC1, DSG1, CDSN
4extracellular regionGO:0055767.8KLK5, KLK7, CTSG, DCD, IGHE, CDSN

Biological processes related to Netherton Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of immune responseGO:05077810.1ELANE, CTSG
2cell envelope organizationGO:04316310.0TGM1, TGM3
3negative regulation of growth of symbiont in hostGO:04413010.0CTSG, ELANE
4peptide cross-linkingGO:0181499.9TGM3, TGM1
5epidermis developmentGO:0085449.7CDSN, KLK7, KLK5
6defense response to fungusGO:0508329.6DCD, CTSG
7keratinocyte differentiationGO:0302169.5TGM3, TGM1, CDSN, FLG
8proteolysisGO:0065089.2KLK5, KLK7, CTSG, CTRL, DCD, ELANE

Molecular functions related to Netherton Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein-glutamine gamma-glutamyltransferase activityGO:0038109.9TGM3, TGM1
2serine-type endopeptidase activityGO:0042529.4ELANE, CTRL, CTSG, KLK7, KLK5
3peptidase activityGO:0082339.3KLK5, CTSG, DCD, ELANE
4serine-type endopeptidase inhibitor activityGO:0048679.2SPINK5, SPINK9, SPINK1, PI3

Products for genes affiliated with Netherton Syndrome

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  • Antibodies
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  • Lysates
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Sources for Netherton Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet