NS
MCID: NTH001
MIFTS: 58

Netherton Syndrome (NS) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases categories

Summaries for Netherton Syndrome

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Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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 atopic dermatitis and congenital ichthyosiform erythroderma, 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 tlck and 3,4-dichloroisocoumarin have been mentioned in the context of this disorder. Affiliated tissues include skin, b cells and eye.

NIH Rare Diseases:44 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:66 Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the... more...

Description from OMIM:48 256500,310465

Aliases & Classifications for Netherton Syndrome

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Sources:
9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 21GeneTests, 23GTR, 36MeSH, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
netherton syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

netherton syndrome 9 10 44 22 48 11 46 50
netherton disease 44 21 23 22
n syndrome 48 11 63
ichthyosis linearis circumflexa 22 63
bamboo hair syndrome 22 50
neth 44 22
ns 22 50
ichthyosiform erythroderma with hypotrichosis and hyper-ige 22
comèl-netherton syndrome 50
comel-netherton syndrome 22
ilc 22


External Ids:

Disease Ontology9 DOID:0050474
OMIM48 256500
MeSH36 D056770
SNOMED-CT via Orphanet60 312514006, 22486004
ICD10 via Orphanet27 Q80.3

Related Diseases for Netherton Syndrome

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Sources:
18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Netherton Syndrome:



Diseases related to netherton syndrome

Symptoms for Netherton Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

256500

Clinical features from OMIM:

256500,310465

Symptoms:

50 (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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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:
21GeneTests, 23GTR
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Genetic tests related to Netherton Syndrome:

id Genetic test Affiliating Genes
1 Netherton Syndrome21 23 SPINK5

Anatomical Context for Netherton Syndrome

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Sources:
34MalaCards
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MalaCards organs/tissues related to Netherton Syndrome:

34
Skin, B cells, Eye, Kidney, Testes, Thymus

Animal Models for Netherton Syndrome or affiliated genes

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Publications for Netherton Syndrome

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53PubMed
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Articles related to Netherton Syndrome:

(show top 50)    (show all 106)
idTitleAuthorsYear
1
Netherton syndrome associated with growth hormone deficiency. (24015757)
2014
2
Phase I study protocol for ex-vivo lentiviral gene therapy for the inherited skin disease, Netherton Syndrome. (24138501)
2013
3
Netherton syndrome: skin inflammation and allergy by loss of protease inhibition. (23344365)
2013
4
Complete Maternal Isodisomy of Chromosome 5 in a Japanese Patient with Netherton Syndrome. (24042343)
2013
5
Case of Netherton syndrome with an elevated serum thymus and activation-regulated chemokine level. (23802543)
2013
6
Netherton syndrome - Why ENT surgeons should be aware of this rare disease - report of a case. (23829563)
2013
7
Netherton syndrome with multiple non-melanoma skin cancers. (23571873)
2013
8
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
9
Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, netherton syndrome. (24329107)
2013
10
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
11
Narrowband ultraviolet B phototherapy associated with improvement in Netherton syndrome. (22582910)
2012
12
Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations. (22089833)
2012
13
Netherton syndrome showing a large clinical overlap with generalized inflammatory peeling skin syndrome. (22562784)
2012
14
Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article. (21573681)
2011
15
Infliximab infusions for Netherton syndrome: sustained clinical improvement correlates with a reduction of thymic stromal lymphopoietin levels in the skin. (21654837)
2011
16
Picture of the month. ComA"l-Netherton syndrome without bamboo hair. (21810639)
2011
17
Videodermoscopy of eyelashes in Netherton syndrome. (21108664)
2011
18
Netherton syndrome: A rare genodermatosis. (23130216)
2011
19
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
20
Par2 inactivation inhibits early production of TSLP, but not cutaneous inflammation, in Netherton syndrome adult mouse model. (20703245)
2010
21
The safety and efficacy of pimecrolimus, 1%, cream for the treatment of Netherton syndrome: results from an exploratory study. (20083693)
2010
22
Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing. (20179351)
2010
23
A new SPINK5 donor splice site mutation in siblings with Netherton syndrome. (20107740)
2010
24
Netherton syndrome: dental considerations. (19953815)
2009
25
Netherton syndrome: mutation analysis of two Taiwanese families. (17415575)
2007
26
Cushing syndrome from percutaneous absorption of 1% hydrocortisone ointment in Netherton syndrome. (17300648)
2007
27
Early skeletal signs in Netherton syndrome. (17156006)
2006
28
Netherton syndrome]. (16956571)
2006
29
Netherton syndrome: a case report and review of the literature. (16796630)
2006
30
SPINK5, the defective gene in netherton syndrome, encodes multiple LEKTI isoforms derived from alternative pre-mRNA processing. (16374478)
2006
31
A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome. (16901309)
2006
32
Characterization and expression analysis of the Spink5 gene, the mouse ortholog of the defective gene in Netherton syndrome. (15780751)
2005
33
Comel-Netherton syndrome in brothers and expression of cytokeratins. (15793546)
2005
34
Acute pancreatitis in a young girl with the Netherton syndrome. (16291148)
2005
35
Netherton syndrome: a type of infantile erythroderma with failure to thrive, immune deficiency, rickets. Report of 3 cases]. (15935629)
2005
36
Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome. (15590704)
2005
37
UVA1 phototherapy of Netherton syndrome. (15040483)
2004
38
Netherton syndrome. (14673256)
2003
39
Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides. (11874482)
2002
40
Netherton syndrome associated with idiopathic congenital hemihypertrophy. (12220283)
2002
41
Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis. (11857617)
2002
42
Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing. (11952552)
2002
43
Severe hypernatremic dehydration in an infant with Netherton syndrome. (11693786)
2001
44
Increasing the likelihood of early diagnosis of Netherton syndrome by simple examination of eyebrow hairs. (10724214)
2000
45
Comel-Netherton syndrome: evolution of manifestation in a 20-year follow-up and phenotypic overlap with peeling skin syndrome type B. (10954215)
2000
46
Altered lamellar body secretion and stratum corneum membrane structure in Netherton syndrome: differentiation from other infantile erythrodermas and pathogenic implications. (10411158)
1999
47
Comel-Netherton syndrome. A diagnostic challenge. (9349353)
1997
48
ComA"l-Netherton syndrome. (7999614)
1994
49
Netherton syndrome revisited. (8170853)
1994
50
Netherton syndrome, enteropathic acrodermatitis, and zinc. (70613)
1977

Variations for Netherton Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Netherton Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1SPINK5NM_006846.3(SPINK5): c.2368C> T (p.Arg790Ter)single nucleotide variantPathogenicrs121908387GRCh37Chr 5, 147499626: 147499626
2SPINK5SPINK5, IVS4AS, A-T, -2single nucleotide variantPathogenic
3SPINK5SPINK5, 1-BP INS, 2468AinsertionPathogenic

Expression for genes affiliated with Netherton Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Netherton Syndrome

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Pathways for genes affiliated with Netherton Syndrome

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Compounds for genes affiliated with Netherton Syndrome

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46Novoseek, 12DrugBank, 25HMDB, 52PharmGKB
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Compounds related to Netherton Syndrome according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1tlck469.5CTRL, ELANE
23,4-dichloroisocoumarin46 1210.5ELANE, CTRL
3tannins469.5ELANE, CTRL
4chymostatin469.5CTRL, ELANE
5pmsf469.4CTRL, ELANE
6aebsf469.4ELANE, CTRL
7diisopropylfluorophosphate469.4CTRL, ELANE
8phosphoramidon46 1210.4CTRL, ELANE
9leupeptin469.3ELANE, CTRL
10egcg469.3ELANE, CTRL
11fmlp469.1ELANE, CTRL
12vitamin a46 25 1211.0ELANE, TGM1
13superoxide46 259.8CTRL, ELANE, PI3
14cysteine468.4CTRL, ELANE, PI3
15sodium dodecylsulfate468.4CTRL, ELANE, TGM1, PI3
16calcium46 52 25 1211.4CTRL, KLK7, TGM1, PI3
17serine468.1CTRL, KLK7, ELANE, PI3, SPINK5
18retinoic acid46 258.8PI3, TGM1, ELANE, KLK7, CTRL

GO Terms for genes affiliated with Netherton Syndrome

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17Gene Ontology
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Cellular components related to Netherton Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1epidermal lamellar bodyGO:0972099.6KLK7, SPINK5

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of endopeptidase activityGO:0109519.5PI3, SPINK5
2proteolysisGO:0065089.2CTRL, ELANE
3extracellular matrix disassemblyGO:0226178.8KLK7, ELANE
4extracellular matrix organizationGO:0301988.8KLK7, ELANE, SPINK5

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase inhibitor activityGO:0048679.6PI3, SPINK5
2serine-type endopeptidase activityGO:0042528.4CTRL, KLK7, ELANE

Products for genes affiliated with Netherton Syndrome

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Netherton Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet