MCID: NTH001
MIFTS: 45

Netherton Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Blood diseases

Aliases & Classifications for Netherton Syndrome

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Aliases & Descriptions for Netherton Syndrome:

Name: Netherton Syndrome 49 10 11 45 22 23 47 12 51 67 36
Netherton Disease 45 22 23 67 24
Neth 45 22 23 67
Ns 22 23 51 67
Ichthyosis Linearis Circumflexa 22 23 65
Comel-Netherton Syndrome 23 67
Bamboo Hair Syndrome 23 51
 
Erythroderma, Ichthyosiform, with Hypotrichosis and Hyper-Ige 67
Ichthyosiform Erythroderma with Hypotrichosis and Hyper-Ige 23
Comèl-Netherton Syndrome 51
N Syndrome 65
Ilc 23
Nts 67

Characteristics:

Orphanet epidemiological data:

51
netherton syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

61
netherton syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 256500
Disease Ontology10 DOID:0050474
MeSH36 D056770
NCIt42 C84922
Orphanet51 634
ICD10 via Orphanet28 Q80.8
MedGen34 C0265962
UMLS65 C0265962, C2936859

Summaries for Netherton Syndrome

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Genetics Home Reference:23 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 based summary: Netherton Syndrome, also known as netherton disease, is related to asthma and ichthyosis linearis circumflexa, and has symptoms including cognitive impairment, abnormal hair quantity and irregular hyperpigmentation. An important gene associated with Netherton Syndrome is SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5). Affiliated tissues include skin, kidney and b cells.

NIH Rare Diseases:45 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. the goals of treatment are to manage symptoms and prevent skin infections and other complications. this may include the use of lotions and creams, antibiotics, topical steroids and other therapies. last updated: 4/21/2016

UniProtKB/Swiss-Prot:67 Netherton syndrome: An autosomal recessive congenital ichthyosis associated with hair shaft abnormalities and anomalies of the immune system. Typical features are ichthyosis linearis circumflexa, ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), atopic dermatitis, and hayfever. High postnatal mortality is due to failure to thrive, infections and hypernatremic dehydration.

Wikipedia:68 Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the... more...

Description from OMIM:49 256500

Related Diseases for Netherton Syndrome

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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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Symptoms by clinical synopsis from OMIM:

256500

Clinical features from OMIM:

256500

Symptoms:

 51 (show all 28)
  • ichthyosis/ichthyosiform dermatitis
  • 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
  • seizures/epilepsy/absences/spasms/status epilepticus
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • 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

HPO human phenotypes related to Netherton Syndrome:

(show all 35)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 abnormal hair quantity hallmark (90%) HP:0011362
3 irregular hyperpigmentation hallmark (90%) HP:0007400
4 fine hair hallmark (90%) HP:0002213
5 asthma hallmark (90%) HP:0002099
6 malabsorption hallmark (90%) HP:0002024
7 urticaria hallmark (90%) HP:0001025
8 eczema hallmark (90%) HP:0000964
9 acanthosis nigricans hallmark (90%) HP:0000956
10 decreased antibody level in blood typical (50%) HP:0004313
11 recurrent respiratory infections typical (50%) HP:0002205
12 emphysema typical (50%) HP:0002097
13 seizures typical (50%) HP:0001250
14 aplasia/hypoplasia of the eyebrow occasional (7.5%) HP:0100840
15 abnormal localization of kidney occasional (7.5%) HP:0100542
16 short stature occasional (7.5%) HP:0004322
17 aminoaciduria occasional (7.5%) HP:0003355
18 dehydration occasional (7.5%) HP:0001944
19 skin rash occasional (7.5%) HP:0000988
20 dry skin occasional (7.5%) HP:0000958
21 angioedema HP:0100665
22 villous atrophy HP:0011473
23 congenital nonbullous ichthyosiform erythroderma HP:0007479
24 hypernatremic dehydration HP:0004906
25 increased ige level HP:0003212
26 abnormality of the musculature HP:0003011
27 recurrent infections HP:0002719
28 brittle hair HP:0002299
29 sparse scalp hair HP:0002209
30 asthma HP:0002099
31 failure to thrive HP:0001508
32 global developmental delay HP:0001263
33 urticaria HP:0001025
34 erythroderma HP:0001019
35 sparse eyebrow HP:0000535

Drugs & Therapeutics for Netherton Syndrome

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Drugs for Netherton Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Pimecrolimusapproved, investigationalPhase 1, Phase 260137071-32-06447131, 17753757
Synonyms:
(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-3-((E)-2-((1R,3R,4S)-4-chloro-3-methoxycyclohexyl)-1-methylvinyl)-8-ethyl-5,6,8,11,12,13,14,15,16,17,18,19,24,26,26a-hexadecahydro-5,19-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclotricosine-1,17,20,21(4H,23H)-tetrone
137071-32-0
33-Epi-chloro-33-desoxyascomycin
33-epi-Chloro-33-desoxyascomycin
ASM 981
ASM-981
ASM-998
CHEMBL1200686
CID6447131
CID6509979
CID6916008
D05480
DB00337
 
Elidel
Elidel (TN)
I06-1252
LS-181798
MolPort-003-666-749
NCGC00167506-01
Pimecrolimus
Pimecrolimus (JAN/USAN/INN)
Pimecrolimus [USAN:INN:BAN]
Pimecrolimusum
S5004_Selleck
SDZ ASM 981
SDZ-ASM 981
SDZ-ASM-981
UNII-7KYV510875
2
Tacrolimusapproved, investigationalPhase 1, Phase 21023104987-11-3445643, 439492, 445647
Synonyms:
(-)-FK 506
(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone
104987-11-3
109581-93-3 (Hydrate)
15,19-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclotricosine-1,7,20,21(23H)-tetrone,
3S-[3R*[E(1S*,3S*,4S*)],4S*,5R*,8S*,9E,12R*,14R*,15S*,16R*,18S*,19S*,26aR*]]-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-5, 19-dihydroxy-3-[2-(4-hydroxy-3-methoxycyclohexyl)-1-methylethenyl]-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(2-propenyl)-15,19-epoxy-3H-pyrido[2,1-c] [1,4] oxaazacyclotricosine-1,7,20,21(4H,23H)-tetrone
8-DEETHYL-8-[BUT-3-ENYL]-ASCOMYCIN
8-DEETHYL-8-[but-3-enyl]-ascomycin
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
BCBcMAP01_000194
BRD-K35452788-001-02-1
BSPBio-001279
BSPBio_001279
Bio-0921
Bio2_000470
Bio2_000950
C01375
C44H69NO10
CCRIS 7124
CHEBI:100924
CHEBI:61049
CHEMBL1200738
CID11158639
CID11556866
CID439492
CID445643
CID5372
CID5472317
CID6426916
CID6436007
CID6473866
CID6536850
CID6610362
CID6912836
CID9832283
CID9853905
CID9918805
CID9940643
CID9963169
CPD-10016
CPD000466356
D08556
DB00864
DivK1c_001040
FK 506
FK-506
FK5
FK506
FR 900506
FR-900506
FR900506
 
FT-0082660
Fk-506
Fujimycin
Graceptor
HMS1362O21
HMS1792O21
HMS1990O21
HMS2051C18
HMS2093M19
HMS503O21
Hecoria
IDI1_001040
IDI1_002225
K506
KBio1_001040
KBio2_000619
KBio2_003187
KBio2_005755
KBio3_001097
KBio3_001098
KBioGR_000619
KBioSS_000619
L 679934
L-679934
LCP-Tacro
LMPK04000003
LS-64247
MLS000759471
MLS001424054
Modigraf
MolPort-003-666-518
NCGC00163470-01
NCGC00163470-02
NCGC00163470-03
NCGC00163470-04
NCGC00179232-01
NChemBio.2007.16-comp1
NINDS_001040
NSC717865
Prograf
Prograf (TN)
Protopic
Protopy
S5003_Selleck
SAM001246677
SMR000466356
Tacarolimus
Tacrolimus
Tacrolimus (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus Hydrate
Tacrolimus anhydrous
Tacrolimus hydrate
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
3
AdalimumabapprovedPhase 2443331731-18-116219006
Synonyms:
331731-18-1
Adalimumab
Adalimumab (USAN/INN)
Adalimumab (genetical recombination)
 
Adalimumab (genetical recombination) (JAN)
D02597
Humira
Humira (TN)
Humira Pen
Ig gamma-1 chain C region
4Immunosuppressive AgentsPhase 1, Phase 210422
5Peripheral Nervous System AgentsPhase 1, Phase 218510
6Immunologic FactorsPhase 1, Phase 218483
7Dermatologic AgentsPhase 1, Phase 24555
8Anti-Inflammatory AgentsPhase 1, Phase 28478
9Analgesics, Non-NarcoticPhase 1, Phase 25184
10Anti-Inflammatory Agents, Non-SteroidalPhase 1, Phase 23549
11Antirheumatic AgentsPhase 1, Phase 28496
12Calcineurin InhibitorsPhase 1, Phase 21223
13AnalgesicsPhase 1, Phase 29358

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton SyndromeCompletedNCT00208026Phase 1, Phase 2
2Clinical Trial Using Humira in Netherton SyndromeRecruitingNCT02113904Phase 2
3A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton SyndromeCompletedNCT01428297Phase 1
4Gene Therapy for Netherton SyndromeRecruitingNCT01545323Phase 1
5Natural History and Biological Study of Netherton SyndromeRecruitingNCT02081313
6Natural History of Diseases Associated With Allergic Inflammation: Atopic Dermatitis and Genetic and Congenital Diseases Associated With Atopic PathwaysRecruitingNCT01164241

Search NIH Clinical Center for Netherton Syndrome


Cochrane evidence based reviews: netherton syndrome

Genetic Tests for Netherton Syndrome

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Genetic tests related to Netherton Syndrome:

id Genetic test Affiliating Genes
1 Netherton Syndrome22 SPINK5

Anatomical Context for Netherton Syndrome

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MalaCards organs/tissues related to Netherton Syndrome:

33
Skin, Kidney, B cells, Eye, Lung, Testes, Myeloid

Animal Models for Netherton Syndrome or affiliated genes

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Publications for Netherton Syndrome

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Articles related to Netherton Syndrome:

(show top 50)    (show all 126)
idTitleAuthorsYear
1
Ackerman syndrome: a rare cause of arthritis with dermatitis. (25666244)
2015
2
Endogenous interferon-I^-inducible gene expression and interferon-I^-treatment are associated with reduced T cell responses to myelin basic protein in multiple sclerosis. (25738751)
2015
3
Smad7 inhibits AngII-mediated hypertensive nephropathy in a mouse model of hypertension. (24511990)
2014
4
Strong larvicidal potential of Artemisia annua leaf extract against malaria (Anopheles stephensi Liston) and dengue (Aedes aegypti L.) vectors and bioassay-driven isolation of the marker compounds. (24158647)
2014
5
Cardiac troponin release following hybrid coronary revascularization versus off-pump coronary artery bypass surgery. (25217621)
2014
6
Insulin resistance in Nigerians with essential hypertension. (24250303)
2013
7
Viologen-phosphorus dendrimers exhibit minor toxicity against a murine neuroblastoma cell line. (23893290)
2013
8
Urinary bladder urothelial carcinoma with expression of KIT and PDGFRA and showing diverse differentiations into plasmacytoid, clear cell, acantholytic, nested, and spindle variants, and into adenocarcinoma, signet-ring cell carcinoma, small cell carcinoma, large cell carcinoma, and pleomorphic carcinoma. (23696935)
2013
9
Eradication of Helicobacter pylori infection reduces the incidence of peptic ulcer disease in patients using nonsteroidal anti-inflammatory drugs: a meta-analysis. (22759329)
2012
10
A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome. (22058112)
2012
11
Passive immunotherapies protect WRvFire and IHD-J-Luc vaccinia virus-infected mice from lethality by reducing viral loads in the upper respiratory tract and internal organs. (21715493)
2011
12
Molecular bases of cyclic and specific disulfide interchange between human ERO1alpha protein and protein-disulfide isomerase (PDI). (21398518)
2011
13
Blood protein concentrations in the first two postnatal weeks that predict bronchopulmonary dysplasia among infants born before the 28th week of gestation. (21150694)
2011
14
Over-expression of Ephb4 is associated with carcinogenesis of gastric cancer. (20686847)
2011
15
Role of antibiotics in the severity of cholecystitis. (19837392)
2010
16
Elevated levels of aldosterone in the amniotic fluid in two cases of congenital mesoblastic nephroma. (20455206)
2010
17
Minireview: the play of proteins on the parathyroid hormone messenger ribonucleic Acid regulates its expression. (20032048)
2010
18
A protocol for the production of KLRG1 tetramer. (20068548)
2010
19
Light chain deposition disease presenting as massive hepatomegaly. (20350234)
2010
20
Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations. (19880069)
2009
21
Severe sepsis in cirrhosis. (19885876)
2009
22
Association of SORL1 gene variants with Alzheimer's disease. (19368828)
2009
23
GLUT1 deficiency syndrome--2007 update. (17718830)
2007
24
Measurement of nitric oxide levels in the red cell: validation of tri-iodide-based chemiluminescence with acid-sulfanilamide pretreatment. (16845122)
2006
25
Hypokalemia causing rhabdomyolysis resulting in life-threatening hyperkalemia. (16252109)
2006
26
Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. (16033918)
2006
27
Thymidylate synthase 5'- and 3'-untranslated region polymorphisms associated with risk and progression of squamous cell carcinoma of the head and neck. (15585623)
2004
28
Gene expression profiling identifies matriptase overexpression in malignant mesothelioma. (15136399)
2004
29
Activation of the ribosomal gene during blast transformation of human lymphocytes]. (12428425)
2002
30
Peptide methionine sulfoxide reductase: structure, mechanism of action, and biological function. (11795868)
2002
31
Platelet function and fibrinolytic agents: two sides of a coin? (11423707)
2001
32
Transitional cell carcinoma of the endometrium associated with a benign ovarian Brenner tumor: a case report. (11230712)
2001
33
Isepamicin versus amikacin for the treatment of acute pyelonephritis in children. (10717501)
2000
34
The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect. (10598803)
1999
35
DT-diaphorase protects against menadione-induced oxidative stress. (10614691)
1999
36
Antenatal dexamethasone therapy does not affect circulating concentrations of insulin-like growth factor binding protein-1. (9688419)
1998
37
Polymorphic markers in apolipoprotein C-III gene flanking regions and hypertriglyceridemia. (8696957)
1996
38
Characterization of a novel zinc finger gene (ZNF165) mapping to 6p21 that is expressed specifically in testis. (7490084)
1995
39
Inhibition of human immunodeficiency virus type 1 transcription and replication by DNA sequence-selective plant lignans. (7479972)
1995
40
Kinetic analysis of the interactions of recombinant human VpreB and Ig V domains. (7636190)
1995
41
Spontaneous apoptosis of dendritic cells is efficiently inhibited by TRAP (CD40-ligand) and TNF-alpha, but strongly enhanced by interleukin-10. (7621870)
1995
42
Prognostic influence of the co-expression of epidermal growth factor receptor and c-erbB-2 protein in human lung adenocarcinoma. (7952390)
1994
43
Effect of high-protein feed supplements on concentrations of growth hormone (GH), insulin-like growth factor-I (IGF-I) and IGF-binding protein-3 in plasma and on the amounts of GH and messenger RNA for GH in the pituitary glands of adult rams. (7506288)
1993
44
Development of a monoclonal antibody capable of differentiating platelet PLA1/PLA1, PLA1/PLA2 and PLA2/PLA2 genotypes. (1520609)
1992
45
Follicular thyroid carcinoma with clear cell change showing unusual ultrastructural features. (3278637)
1988
46
Congenital spiradenoma. (2851273)
1988
47
Acquired double-barrel oesophagus in epidermolysis bullosa dystrophica. (7434305)
1980
48
Activation of C1r by proteolytic cleavage. (1249422)
1976
49
Ultrastructure of rhinoscleroma. (5051375)
1972
50
Osteosarcoma developing in solitary enchondroma of the tibia. (5278285)
1971

Variations for Netherton Syndrome

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Clinvar genetic disease variations for Netherton Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SPINK5NM_006846.3(SPINK5): c.2368C> T (p.Arg790Ter)single nucleotide variantPathogenicrs121908387GRCh37Chr 5, 147499626: 147499626
2SPINK5NM_006846.3(SPINK5): c.283-2A> Tsingle nucleotide variantPathogenicrs587777749GRCh38Chr 5, 148086403: 148086403
3SPINK5NM_006846.3(SPINK5): c.2468dupA (p.Lys824Glufs)duplicationPathogenicrs587777750GRCh38Chr 5, 148120321: 148120321

Expression for genes affiliated with Netherton Syndrome

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Search GEO for disease gene expression data for Netherton Syndrome.

Pathways for genes affiliated with Netherton Syndrome

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GO Terms for genes affiliated with Netherton Syndrome

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Sources for Netherton Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet