MCID: NTH001
MIFTS: 48

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 ichthyosis vulgaris and obesity, 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 lung.

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

(show top 50)    (show all 96)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis vulgaris30.0FLG, TGM1
2obesity11.4
3pancreatic cancer11.1
4schizophrenia11.1
5dumping syndrome11.1
6neuroendocrine tumor11.1
7duodenogastric reflux11.1
8sudden infant death syndrome11.0
9constipation11.0
10vipoma11.0
11carcinoid syndrome11.0
125-nucleotidase syndrome11.0
13hypertension, essential10.9
14parkinson disease, late-onset10.9
15autistic disorder10.9
16foodborne botulism10.9
17infant botulism10.9
18oropouche fever10.9
19neuronal intestinal dysplasia10.9
20functional diarrhea10.9
21duodenal benign neoplasm10.9
22toxic megacolon10.9
23autonomic nervous system neoplasm10.9
24space motion sickness10.9
25hepatocellular fibrolamellar carcinoma10.9
26amphetamine abuse10.9
27postgastrectomy syndrome10.9
28pancreatic islet cell tumors10.9
29peripheral nervous system neoplasm10.8
30contact dermatitis10.4FLG, PI3
31braddock syndrome10.3DSG1, FLG
32ichthyosis, autosomal recessive 4b10.3FLG, TGM1
33dermatitis herpetiformis10.2DSG1, PI3
34soft palate cancer10.2DSG1, FLG
35fanconi anemia, complementation group b10.2FLG, TGM1
36venous hemangioma10.2ELANE, FLG
37skin squamous cell carcinoma10.2DSG1, FLG
38spongiotic dermatitis10.2DSG1, KLK7
39bronchial neoplasm10.2ELANE, SPINK5
40cardiomyopathy10.1
41peeling skin syndrome10.1
42atrial fibrillation10.1
43atopy10.0FLG, SPINK5
44myocardial infarction10.0
45heart disease10.0
46ichthyosis, cyclic, with epidermolytic hyperkeratosis10.0FLG, TGM1
47angiomyolipoma10.0FLG, KLK7, SPINK5
48systolic heart failure10.0
49pustulosis palmaris et plantaris10.0ELANE, PI3
50dermatitis10.0

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

UMLS symptoms related to Netherton Syndrome:


disturbance of thermoregulation of newborn, trichorrhexis invaginata

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, Lung, B cells, Prostate, Breast, Eye

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 136)
idTitleAuthorsYear
1
Treatment of ichthyosis and hypernatremia in a patient with Netherton syndrome with a SPINK5 c.153delT mutation using kallikrein inhibiting ointment. (26889743)
2016
2
Netherton Syndrome Mimicking Pustular Psoriasis: Clinical Implications and Response to Intravenous Immunoglobulin. (27086664)
2016
3
Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation. (26865388)
2016
4
Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT. (26365906)
2015
5
Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work review. (25917539)
2015
6
Recurrent pustular eruption masquerading as pustular psoriasis in Netherton syndrome. (25440527)
2015
7
Netherton syndrome associated with growth hormone deficiency. (24015757)
2014
8
Molecular analysis of a series of Israeli families with ComA"l-Netherton syndrome. (24577329)
2014
9
Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum. (25526335)
2014
10
Phase I study protocol for ex-vivo lentiviral gene therapy for the inherited skin disease, Netherton Syndrome. (24138501)
2013
11
Netherton syndrome: skin inflammation and allergy by loss of protease inhibition. (23344365)
2013
12
Complete Maternal Isodisomy of Chromosome 5 in a Japanese Patient with Netherton Syndrome. (24042343)
2013
13
Case of Netherton syndrome with an elevated serum thymus and activation-regulated chemokine level. (23802543)
2013
14
Netherton syndrome - Why ENT surgeons should be aware of this rare disease - report of a case. (23829563)
2013
15
Netherton syndrome with multiple non-melanoma skin cancers. (23571873)
2013
16
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
17
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
18
Narrowband ultraviolet B phototherapy associated with improvement in Netherton syndrome. (22582910)
2012
19
Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations. (22089833)
2012
20
Netherton syndrome showing a large clinical overlap with generalized inflammatory peeling skin syndrome. (22562784)
2012
21
Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article. (21573681)
2011
22
Infliximab infusions for Netherton syndrome: sustained clinical improvement correlates with a reduction of thymic stromal lymphopoietin levels in the skin. (21654837)
2011
23
Picture of the month. ComA"l-Netherton syndrome without bamboo hair. (21810639)
2011
24
Videodermoscopy of eyelashes in Netherton syndrome. (21108664)
2011
25
Par2 inactivation inhibits early production of TSLP, but not cutaneous inflammation, in Netherton syndrome adult mouse model. (20703245)
2010
26
The safety and efficacy of pimecrolimus, 1%, cream for the treatment of Netherton syndrome: results from an exploratory study. (20083693)
2010
27
Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing. (20179351)
2010
28
Netherton syndrome: dental considerations. (19953815)
2009
29
Netherton syndrome: mutation analysis of two Taiwanese families. (17415575)
2007
30
Early skeletal signs in Netherton syndrome. (17156006)
2006
31
Netherton syndrome]. (16956571)
2006
32
Netherton syndrome: a case report and review of the literature. (16796630)
2006
33
SPINK5, the defective gene in netherton syndrome, encodes multiple LEKTI isoforms derived from alternative pre-mRNA processing. (16374478)
2006
34
Characterization and expression analysis of the Spink5 gene, the mouse ortholog of the defective gene in Netherton syndrome. (15780751)
2005
35
Comel-Netherton syndrome in brothers and expression of cytokeratins. (15793546)
2005
36
Acute pancreatitis in a young girl with the Netherton syndrome. (16291148)
2005
37
Netherton syndrome: a type of infantile erythroderma with failure to thrive, immune deficiency, rickets. Report of 3 cases]. (15935629)
2005
38
UVA1 phototherapy of Netherton syndrome. (15040483)
2004
39
Netherton syndrome. (14673256)
2003
40
Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides. (11874482)
2002
41
Netherton syndrome associated with idiopathic congenital hemihypertrophy. (12220283)
2002
42
Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis. (11857617)
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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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