MCID: NTH001
MIFTS: 52

Netherton Syndrome malady

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

Aliases & Classifications for Netherton Syndrome

About this section

Aliases & Descriptions for Netherton Syndrome:

Name: Netherton Syndrome 52 11 48 24 25 54 70 12 50 39 13
Netherton Disease 48 24 25 70 27
Neth 48 24 25 70
Ns 24 25 54 70
Ichthyosis Linearis Circumflexa 24 25 68
Comel-Netherton Syndrome 25 70
 
Bamboo Hair Syndrome 25 54
Erythroderma, Ichthyosiform, with Hypotrichosis and Hyper-Ige 70
Ichthyosiform Erythroderma with Hypotrichosis and Hyper-Ige 25
Comèl-Netherton Syndrome 54
Ilc 25
Nts 70

Characteristics:

Orphanet epidemiological data:

54
netherton syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

64
netherton syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 256500
Disease Ontology11 DOID:0050474
MeSH39 D056770
NCIt45 C84922
Orphanet54 ORPHA634
ICD10 via Orphanet31 Q80.8
MedGen37 C0265962

Summaries for Netherton Syndrome

About this section
Genetics Home Reference:25 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 colorectal cancer, and has symptoms including acanthosis nigricans, eczema and urticaria. An important gene associated with Netherton Syndrome is SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5), and among its related pathways are Matrix Metalloproteinases and Degradation of the extracellular matrix. Affiliated tissues include skin, kidney and eye.

NIH Rare Diseases:48 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:70 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:71 Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the... more...

Description from OMIM:52 256500

Related Diseases for Netherton Syndrome

About this section

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

(show top 50)    (show all 113)
idRelated DiseaseScoreTop Affiliating Genes
1ichthyosis vulgaris29.7FLG, TGM1
2colorectal cancer11.3
3pancreatic cancer10.9
4schizophrenia10.9
5gastroesophageal reflux10.9
6short bowel syndrome10.9
7dumping syndrome10.9
8neuroendocrine tumor10.9
9duodenogastric reflux10.9
10vipoma10.9
115-nucleotidase syndrome10.8
12sudden infant death syndrome10.8
13zollinger-ellison syndrome10.8
14obstructive jaundice10.8
15constipation10.8
16pancreatoblastoma10.8
17hypertension, essential10.7
18parkinson disease, late-onset10.7
19nicotine dependence, protection against10.7
20autistic disorder10.7
21infant botulism10.7
22oropouche fever10.7
23functional diarrhea10.7
24psychotic disorder10.7
25space motion sickness10.7
26hepatocellular fibrolamellar carcinoma10.7
27amphetamine abuse10.7
28postgastrectomy syndrome10.7
29carcinoid syndrome10.7
30pancreatic islet cell tumors10.7
31pain agnosia10.6
32peripheral nervous system neoplasm10.6
33autonomic nervous system neoplasm10.6
34agnosia10.6
35rectosigmoid junction neoplasm10.4FLG, PI3
36ichthyosis, autosomal recessive 4b10.3FLG, TGM1
37haim-munk syndrome10.2CTSG, SPINK5
38dermatitis herpetiformis10.1ELANE, PI3
39placenta praevia10.1ELANE, PI3
40brucella abortus brucellosis10.1ELANE, PI3
41lemierre's syndrome10.1ELANE, PI3
42marchiafava bignami disease10.1ELANE, PI3
43hepatic angiomyolipoma10.1FLG, KLK7, SPINK5
44complex partial epilepsy10.1ELANE, PI3
45freemartinism10.1ELANE, FLG
46bscl2-related neurologic disorders/seipinopathy10.1SPINK5, TGM1
47ichthyosis, cyclic, with epidermolytic hyperkeratosis10.0FLG, TGM1
48acute poisoning by drugs with membrane-stabilizing effect10.0DSG1, FLG
49cardiomyopathy10.0
50steroid inherited metabolic disorder10.0FLG, SPINK5, TGM1

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



Diseases related to netherton syndrome

Symptoms & Phenotypes for Netherton Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

256500

Clinical features from OMIM:

256500

Human phenotypes related to Netherton Syndrome:

 64 54 (show all 42)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 acanthosis nigricans64 54 hallmark (90%) Very frequent (99-80%) HP:0000956
2 eczema64 54 hallmark (90%) Very frequent (99-80%) HP:0000964
3 urticaria64 54 hallmark (90%) Very frequent (99-80%) HP:0001025
4 malabsorption64 54 hallmark (90%) Very frequent (99-80%) HP:0002024
5 asthma64 54 hallmark (90%) Very frequent (99-80%) HP:0002099
6 fine hair64 54 hallmark (90%) Very frequent (99-80%) HP:0002213
7 irregular hyperpigmentation64 54 hallmark (90%) Very frequent (99-80%) HP:0007400
8 abnormal hair quantity64 hallmark (90%) HP:0011362
9 cognitive impairment64 hallmark (90%) HP:0100543
10 seizures64 54 typical (50%) Frequent (79-30%) HP:0001250
11 emphysema64 54 typical (50%) Frequent (79-30%) HP:0002097
12 recurrent respiratory infections64 54 typical (50%) Frequent (79-30%) HP:0002205
13 decreased antibody level in blood64 54 typical (50%) Frequent (79-30%) HP:0004313
14 dry skin64 54 occasional (7.5%) Occasional (29-5%) HP:0000958
15 skin rash64 54 occasional (7.5%) Occasional (29-5%) HP:0000988
16 dehydration64 54 occasional (7.5%) Occasional (29-5%) HP:0001944
17 aminoaciduria64 54 occasional (7.5%) Occasional (29-5%) HP:0003355
18 short stature64 54 occasional (7.5%) Occasional (29-5%) HP:0004322
19 abnormal localization of kidney64 occasional (7.5%) HP:0100542
20 aplasia/hypoplasia of the eyebrow64 occasional (7.5%) HP:0100840
21 sparse and thin eyebrow64 HP:0000535
22 erythroderma64 54 Occasional (29-5%) HP:0001019
23 global developmental delay64 54 Frequent (79-30%) HP:0001263
24 failure to thrive64 HP:0001508
25 sparse scalp hair64 54 Very frequent (99-80%) HP:0002209
26 brittle hair64 HP:0002299
27 recurrent infections64 54 Occasional (29-5%) HP:0002719
28 abnormality of the musculature64 HP:0003011
29 increased ige level64 54 Very frequent (99-80%) HP:0003212
30 hypernatremic dehydration64 HP:0004906
31 congenital nonbullous ichthyosiform erythroderma64 54 Very frequent (99-80%) HP:0007479
32 villous atrophy64 HP:0011473
33 angioedema64 HP:0100665
34 ectopic kidney54 Occasional (29-5%)
35 hydronephrosis54 Occasional (29-5%)
36 sparse eyebrow54 Occasional (29-5%)
37 sparse eyelashes54 Occasional (29-5%)
38 intellectual disability54 Frequent (79-30%)
39 abnormality of the hair54 Very frequent (99-80%)
40 ichthyosis54 Very frequent (99-80%)
41 trichorrhexis nodosa54 Very frequent (99-80%)
42 immunologic hypersensitivity54 Very frequent (99-80%)

UMLS symptoms related to Netherton Syndrome:


trichorrhexis invaginata, disturbance of thermoregulation of newborn

Drugs & Therapeutics for Netherton Syndrome

About this section

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Pimecrolimusapproved, investigationalPhase 1, Phase 262137071-32-06447131, 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 21074104987-11-3445643, 439492
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
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
Anhydrous tacrolimus
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
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 (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus anhydrous
Tacrolimus hydrate
Tacrolimus, anhydrous
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
3
AdalimumabapprovedPhase 2478331731-18-116219006
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 212770
5Peripheral Nervous System AgentsPhase 1, Phase 222776
6Dermatologic AgentsPhase 1, Phase 25674
7Calcineurin InhibitorsPhase 1, Phase 21597
8Analgesics, Non-NarcoticPhase 1, Phase 26260
9Anti-Inflammatory AgentsPhase 1, Phase 210355
10Anti-Inflammatory Agents, Non-SteroidalPhase 1, Phase 24295
11Antirheumatic AgentsPhase 1, Phase 210627
12AnalgesicsPhase 1, Phase 211287

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 SyndromeActive, not recruitingNCT02113904Phase 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

About this section

Genetic tests related to Netherton Syndrome:

id Genetic test Affiliating Genes
1 Netherton Syndrome27 24 SPINK5

Anatomical Context for Netherton Syndrome

About this section

MalaCards organs/tissues related to Netherton Syndrome:

36
Skin, Kidney, Eye, Testes, Colon, Thymus

Publications for Netherton Syndrome

About this section

Articles related to Netherton Syndrome:

(show top 50)    (show all 141)
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
A viable mouse model for Netherton syndrome based on mosaic inactivation of the Spink5 gene. (27543783)
2016
4
Eosinophilic esophagitis and colonic mucosal eosinophilia in Netherton syndrome. (28025013)
2016
5
Mechanistic insight from murine models of Netherton syndrome. (27710911)
2016
6
Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation. (26865388)
2016
7
Exocrine pancreatic insufficiency in a child with Netherton syndrome. (26986028)
2016
8
Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings. (26825155)
2016
9
Rare case of Netherton syndrome with generalized lentigines. (27988933)
2016
10
Netherton Syndrome: A Genotype-Phenotype Review. (27905021)
2016
11
The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition. (27190931)
2016
12
Airborne transmission from a neonate with Netherton syndrome during an outbreak of MRSA. (26900026)
2016
13
A case of netherton syndrome: successful treatment with omalizumab and pulse prednisolone and its effects on cytokines and immunoglobulin levels. (26592187)
2016
14
Diagnostic criteria of Netherton syndrome using noninvasive reflectance confocal microscopy. (27119479)
2016
15
A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome. (26997095)
2016
16
Recurrent pustular eruption masquerading as pustular psoriasis in Netherton syndrome. (25440527)
2015
17
Penile cancer in a man with netherton syndrome. (25817126)
2015
18
KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome. (26390218)
2015
19
Corrigendum to "Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism". (26550512)
2015
20
Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT. (26365906)
2015
21
Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work review. (25917539)
2015
22
New mutation leading to the full variety of typical features of the Netherton syndrome. (26031502)
2015
23
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome. (25710899)
2015
24
Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism. (26229701)
2015
25
Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome. (25672309)
2015
26
Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum. (25526335)
2014
27
Rapid and easy diagnosis of Netherton syndrome with dermoscopy. (25008447)
2014
28
Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome. (24506793)
2014
29
IgE allergen component-based profiling and atopic manifestations in patients with Netherton syndrome. (25159469)
2014
30
Netherton syndrome associated with growth hormone deficiency. (24015757)
2014
31
Molecular analysis of a series of Israeli families with ComA"l-Netherton syndrome. (24577329)
2014
32
Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks of Netherton syndrome. (24534191)
2014
33
Netherton syndrome: defective kallikrein inhibition in the skin leads to skin inflammation and allergy. (25153381)
2014
34
SPINK5 knockdown in organotypic human skin culture as a model system for Netherton syndrome: effect of genetic inhibition of serine proteases kallikrein 5 and kallikrein 7. (24848304)
2014
35
Complete Maternal Isodisomy of Chromosome 5 in a Japanese Patient with Netherton Syndrome. (24042343)
2013
36
Netherton syndrome with multiple non-melanoma skin cancers. (23571873)
2013
37
Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, netherton syndrome. (24329107)
2013
38
Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5. (23331056)
2013
39
Netherton syndrome with pili torti. (24778540)
2013
40
Netherton syndrome and its multifaceted defective protein LEKTI. (23407075)
2013
41
Phase I study protocol for ex-vivo lentiviral gene therapy for the inherited skin disease, Netherton Syndrome. (24138501)
2013
42
Netherton syndrome: skin inflammation and allergy by loss of protease inhibition. (23344365)
2013
43
Case of Netherton syndrome with an elevated serum thymus and activation-regulated chemokine level. (23802543)
2013
44
Netherton syndrome - Why ENT surgeons should be aware of this rare disease - report of a case. (23829563)
2013
45
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
46
Netherton syndrome, a case report and review of literature. (24800031)
2013
47
Intercellular Skin Barrier Lipid Composition and Organization in Netherton Syndrome Patients. (24292773)
2013
48
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
49
Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations. (22089833)
2012
50
Netherton syndrome showing a large clinical overlap with generalized inflammatory peeling skin syndrome. (22562784)
2012

Variations for Netherton Syndrome

About this section

Clinvar genetic disease variations for Netherton Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SPINK5NM_006846.3(SPINK5): c.652C> T (p.Arg218Ter)SNVPathogenicrs199757347GRCh38Chr 5, 148091214: 148091214
2SPINK5NM_006846.3(SPINK5): c.2368C> T (p.Arg790Ter)SNVPathogenicrs121908387GRCh37Chr 5, 147499626: 147499626
3SPINK5NM_006846.3(SPINK5): c.283-2A> TSNVPathogenicrs587777749GRCh38Chr 5, 148086403: 148086403
4SPINK5NM_006846.3(SPINK5): c.2468dupA (p.Lys824Glufs)duplicationPathogenicrs587777750GRCh38Chr 5, 148120321: 148120321
5SPINK5NM_006846.3(SPINK5): c.1258A> G (p.Lys420Glu)SNVrisk factorrs2303067GRCh37Chr 5, 147480955: 147480955

Expression for genes affiliated with Netherton Syndrome

About this section
Search GEO for disease gene expression data for Netherton Syndrome.

Pathways for genes affiliated with Netherton Syndrome

About this section

Pathways related to Netherton Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5CTSG, ELANE
2
Show member pathways
9.2CTSG, ELANE, KLK7

GO Terms for genes affiliated with Netherton Syndrome

About this section

Cellular components related to Netherton Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1epidermal lamellar bodyGO:009720910.6KLK7, SPINK5
2secretory granuleGO:00301419.5CTSG, ELANE
3extracellular exosomeGO:00700627.9CTSG, DSG1, ELANE, PI3, SPINK5, TGM1

Biological processes related to Netherton Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1defense response to fungusGO:005083210.2CTSG, ELANE
2negative regulation of growth of symbiont in hostGO:004413010.2CTSG, ELANE
3positive regulation of immune responseGO:005077810.2CTSG, ELANE
4keratinocyte differentiationGO:003021610.1FLG, TGM1
5extracellular matrix disassemblyGO:00226179.8CTSG, ELANE, KLK7
6proteolysisGO:00065088.8CTRL, CTSG, ELANE, KLK7

Molecular functions related to Netherton Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase inhibitor activityGO:00048679.9PI3, SPINK5
2serine-type peptidase activityGO:00082369.8CTRL, KLK7
3peptidase activityGO:00082339.4CTRL, CTSG, ELANE, KLK7
4serine-type endopeptidase activityGO:00042529.4CTRL, CTSG, ELANE, KLK7

Sources for Netherton Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet