NS
MCID: NTH001
MIFTS: 56

Netherton Syndrome (NS) malady

Eye, Skin categories

Summaries for Netherton Syndrome

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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

MalaCards: Netherton Syndrome, also known as netherton disease, is related to atopic dermatitis and congenital ichthyosiform erythroderma, and has symptoms including autosomal recessive inheritance, seizures/epilepsy/absences/spasms/status epilepticus and intellectual deficit/mental/psychomotor retardation/learning disability. An important gene associated with Netherton Syndrome is SPINK5 (serine peptidase inhibitor, Kazal type 5), and among its related pathways are MSP-RON Signaling and Collagen biosynthesis and modifying enzymes. The compounds 4-nitroanilide and elastatinal have been mentioned in the context of this disorder. Affiliated tissues include skin and thymus, and related mouse phenotypes are immune system and integument.

Wikipedia:64 Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the... more...

Description from OMIM:47 256500

Aliases & Classifications for Netherton Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
netherton syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

netherton syndrome 8 9 43 47 10 45 49
netherton disease 43 20 22
ichthyosis linearis circumflexa 61
comèl-netherton syndrome 49
bamboo hair syndrome 49
n syndrome 61
neth 43
ns 49


External Ids:

Disease Ontology8 DOID:0050474
OMIM47 256500
MeSH35 D056770
ICD10 via Orphanet26 L67.0, Q80.8

Related Diseases for Netherton Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1atopic dermatitis30.4KLK7, FLG, IGHE, CDSN, SPINK5, TSLP
2congenital ichthyosiform erythroderma30.2SPINK5, TGM1
3ichthyosis vulgaris30.0TGM1, FLG
4acute pancreatitis30.0ELANE, SPINK1
5ichthyosis linearis circumflexa11.1
6n syndrome11.0
7dwarfism10.4
8micro syndrome10.4
9peeling skin syndrome10.4
10noonan-like/multiple giant cell lesion syndrome10.3
11avian influenza10.3
12adult syndrome10.2
13noonan syndrome10.1
14noonan syndrome 110.1
15acrodermatitis10.0
16cushing's syndrome10.0
17rickets10.0
18arc syndrome10.0
19char syndrome10.0
20young syndrome10.0
21bod syndrome10.0
22growth hormone deficiency10.0
235q- syndrome10.0
24hemihypertrophy10.0
25peeling skin syndrome type a10.0
26autosomal recessive congenital ichthyosis10.0TGM1
27sinusitis10.0IGHE
28eosinophilic esophagitis10.0TSLP
29rhinitis10.0IGHE
30pancreatitis10.0ELANE, SPINK1
31extrinsic allergic alveolitis10.0IGHE, PI3
32eczema herpeticum10.0TSLP, IGHE
33alcoholic pancreatitis10.0ELANE, SPINK1
34harlequin type ichthyosis10.0FLG, TGM1
35contact dermatitis10.0IGHE, FLG
36arthritis10.0FLG, CTSG
37x-linked ichthyosis10.0FLG
38keratoderma10.0DSG1, TGM1
39bronchiectasis10.0CTSG, IGHE, ELANE
40keratosis10.0FLG
41subcorneal pustular dermatosis10.0DSC1, DSG1
42adult respiratory distress syndrome10.0ELANE, CTSG
43pulmonary disease, chronic obstructive10.0CTSG, PI3, ELANE
44bullous pemphigoid10.0FLG, DSG1, IGHE
45allergic rhinitis10.0FLG, IGHE, TSLP
46epidermolytic hyperkeratosis10.0TGM1, FLG
47pemphigus10.0DSC1, DSG1
48atopy10.0TSLP, SPINK5, IGHE, FLG
49allergic asthma10.0TSLP, IGHE, FLG
50nonepidermolytic palmoplantar keratoderma10.0KLK7, FLG, DSG1, TGM1

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



Diseases related to netherton syndrome

Clinical Features for Netherton Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

256500

Clinical synopsis from OMIM:

256500

Symptoms:

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

Drugs & Therapeutics for Netherton Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Netherton Syndrome:

33
Skin, Thymus

Animal Models for Netherton Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Netherton Syndrome:

37
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

Sources:
51PubMed
See all sources

Articles related to Netherton Syndrome:

(show top 50)    (show all 116)
idTitleAuthorsYear
1
Netherton syndrome associated with growth hormone deficiency. (24015757)
2014
2
Complete Maternal Isodisomy of Chromosome 5 in a Japanese Patient with Netherton Syndrome. (24042343)
2013
3
Case of Netherton syndrome with an elevated serum thymus and activation-regulated chemokine level. (23802543)
2013
4
Aberrant distribution patterns of corneodesmosomal components of tape-stripped corneocytes in atopic dermatitis and related skin conditions (ichthyosis vulgaris, Netherton syndrome and peeling skin syndrome type B). (23810772)
2013
5
Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, netherton syndrome. (24329107)
2013
6
Netherton's syndrome and lepromatous leprosy: a mere coincidence? (23347305)
2013
7
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
8
Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations. (22089833)
2012
9
Anesthetic considerations in Netherton Syndrome. (22380746)
2012
10
Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article. (21573681)
2011
11
Picture of the month. ComA"l-Netherton syndrome without bamboo hair. (21810639)
2011
12
Videodermoscopy of eyelashes in Netherton syndrome. (21108664)
2011
13
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
14
Proteolytic activation cascade of the Netherton syndrome-defective protein, LEKTI, in the epidermis: implications for skin homeostasis. (21697885)
2011
15
New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome. (21564178)
2011
16
Par2 inactivation inhibits early production of TSLP, but not cutaneous inflammation, in Netherton syndrome adult mouse model. (20703245)
2010
17
A new SPINK5 donor splice site mutation in siblings with Netherton syndrome. (20107740)
2010
18
Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome. (19414552)
2009
19
Caspase-1 activity of stratum corneum and serum interleukin-18 level are increased in patients with Netherton syndrome. (18616770)
2008
20
An infant with Netherton syndrome and persistent pulmonary hypertension requiring extracorporeal membrane oxygenation. (18577046)
2008
21
Netherton syndrome and trichorrhexis invaginata--a novel diagnostic approach. (18429812)
2008
22
Netherton syndrome: mutation analysis of two Taiwanese families. (17415575)
2007
23
Cushing syndrome from percutaneous absorption of 1% hydrocortisone ointment in Netherton syndrome. (17300648)
2007
24
Netherton syndrome: successful use of topical tacrolimus and pimecrolimus in four siblings. (17343588)
2007
25
Early skeletal signs in Netherton syndrome. (17156006)
2006
26
Netherton syndrome: report of identical twins presenting with severe atopic dermatitis. (16670861)
2006
27
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
28
Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome. (16628198)
2006
29
Characterization and expression analysis of the Spink5 gene, the mouse ortholog of the defective gene in Netherton syndrome. (15780751)
2005
30
Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity. (15619623)
2005
31
Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules. (16225619)
2005
32
SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases. (15304086)
2004
33
Generalized exfoliative erythroderma since birth. Netherton syndrome. (15492197)
2004
34
Netherton syndrome. (14673256)
2003
35
Early development of multiple epithelial neoplasms in Netherton syndrome. (12920370)
2003
36
Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides. (11874482)
2002
37
Netherton syndrome associated with idiopathic congenital hemihypertrophy. (12220283)
2002
38
ComA"l-Netherton syndrome and peeling skin syndrome type B: overlapping syndromes or one entity? (12100700)
2002
39
Guess what! ComA"l-Netherton syndrome. (11458927)
2001
40
Increasing the likelihood of early diagnosis of Netherton syndrome by simple examination of eyebrow hairs. (10724214)
2000
41
Netherton syndrome is not linked to 18q12, a region homologous to the murine lanceolate hair (lah) locus. (10745035)
2000
42
Netherton's syndrome in siblings. (10606859)
1999
43
Acute bilateral renal vein thrombosis complicating Netherton syndrome. (9504792)
1998
44
Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome. (8806118)
1996
45
Netherton's syndrome: a syndrome of elevated IgE and characteristic skin and hair findings. (7822652)
1995
46
ComA"l-Netherton syndrome. (7999614)
1994
47
Netherton syndrome revisited. (8170853)
1994
48
What syndrome is this? Netherton syndrome. (1534889)
1992
49
Ichthyosis linearis circumflexa ComA"l and Netherton's syndrome; an ultrastructural study. (467759)
1979
50
Netherton syndrome, enteropathic acrodermatitis, and zinc. (70613)
1977

Genetic Variations for Netherton Syndrome

Expression for genes affiliated with Netherton Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 54Reactome
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Pathways related to Netherton Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5KLK7, KLK6, KLK5
2
Hide members
9.2CTSG, KLK7, KLK6, KLK5

Compounds for genes affiliated with Netherton Syndrome

Sources:
45Novoseek, 11DrugBank, 2BitterDB, 24HMDB, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB
See all sources

Compounds related to Netherton Syndrome according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
14-nitroanilide4510.4CTSG, ELANE
2elastatinal4510.4CTSG, ELANE
3tlck4510.4ELANE, CTRL
43,4-dichloroisocoumarin45 1111.4CTRL, ELANE
5saccharin45 211.4ELANE, CTSG
6tannins4510.4ELANE, CTRL
7dithranol4510.3PI3, FLG
8bromelain4510.3ELANE, IGHE
9(4-aminophenyl)mercuric acetate4510.3ELANE, CTSG
10ovomucoid4510.3ELANE, IGHE
11chymostatin4510.3CTSG, CTRL, ELANE
12pmsf4510.3ELANE, CTRL, CTSG
13thermolysin4510.3ELANE, CTSG
14phosphoramidon45 1111.3CTSG, CTRL, ELANE
15diisopropylfluorophosphate4510.3CTSG, CTRL, ELANE
16hocl4510.2ELANE, CTSG
17trypsinogen4510.1SPINK1, ELANE
18epsilon aminocaproic acid4510.1CTSG, ELANE
19aprotinin45 1111.1ELANE, IGHE, CTSG
20allergens4510.0FLG, IGHE, TSLP
21aebsf4510.0CTRL, ELANE
22urea45 11 2412.0CTSG, CTRL, FLG
23sodium dodecylsulfate459.9CTSG, CTRL, PI3, ELANE, TGM1
24benzamidine45 1110.9ELANE, KLK6
25histamine45 29 2411.8CTSG, CTRL, PI3, IGHE
26calcipotriol45 60 29 1112.7FLG, TGM1
27cysteine459.5CTSG, CTRL, PI3, FLG, SLC26A2, ELANE
28arginine459.4TGM1, IGHE, FLG, CTRL, CTSG
29steroid459.2KLK5, KLK6, PI3, FLG, TGM1
30serine458.5SPINK1, KLK5, KLK6, KLK7, CTSG, CTRL
31retinoic acid45 249.4KLK7, CTSG, CTRL, PI3, FLG, DSC1
32calcium45 50 11 2410.8KLK6, KLK7, CTSG, CTRL, PI3, FLG

GO Terms for genes affiliated with Netherton Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Netherton Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:00153310.0TGM1, CDSN
2epidermal lamellar bodyGO:0972099.7KLK5, KLK7, SPINK5
3desmosomeGO:0300579.2CDSN, DSG1, DSC1
4extracellular regionGO:0055767.4ELANE, KLK5, KLK6, KLK7, CTSG, DCD

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of immune responseGO:05077810.2CTSG, ELANE
2cell envelope organizationGO:04316310.0TGM3, TGM1
3negative regulation of growth of symbiont in hostGO:04413010.0CTSG, ELANE
4peptide cross-linkingGO:0181499.9TGM3, TGM1
5epidermis developmentGO:0085449.8CDSN, KLK7, KLK5
6positive regulation of G-protein coupled receptor protein signaling pathwayGO:0457459.6KLK6, KLK5
7defense response to fungusGO:0508329.6DCD, CTSG
8keratinocyte differentiationGO:0302169.5FLG, CDSN, TGM1, TGM3
9proteolysisGO:0065088.7ELANE, DCD, CTRL, CTSG, KLK7, KLK6

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

idNameGO IDScoreTop Affiliating Genes
1protein-glutamine gamma-glutamyltransferase activityGO:0038109.9TGM3, TGM1
2peptidase activityGO:0082339.3KLK5, CTSG, DCD, ELANE
3serine-type endopeptidase inhibitor activityGO:0048679.2SPINK5, SPINK9, SPINK1, PI3
4serine-type endopeptidase activityGO:0042528.9ELANE, CTRL, CTSG, KLK7, KLK6, KLK5

Products for genes affiliated with Netherton Syndrome

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  • Lysates
  • Antibodies

Sources for Netherton Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet