MCID: NTH001
MIFTS: 60

Netherton Syndrome

Categories: Genetic diseases, Rare diseases, Mental diseases, Cancer diseases, Skin diseases, Neuronal diseases, Eye diseases, Ear diseases, Fetal diseases, Blood diseases

Aliases & Classifications for Netherton Syndrome

MalaCards integrated aliases for Netherton Syndrome:

Name: Netherton Syndrome 53 12 72 49 24 55 71 36 28 13 51 41 14
N Syndrome 53 12 49 55 28 13 14 69
Netherton Disease 53 49 24 71
Neth 53 49 24 71
Ns 53 24 55 71
Comel-Netherton Syndrome 53 24 71
Nsx 53 12 49
Erythroderma, Ichthyosiform, with Hypotrichosis and Hyper-Ige 53 71
Ichthyosis Linearis Circumflexa 24 69
Bamboo Hair Syndrome 24 55
Mental Retardation, Malformations, Chromosome Breakage, and Development of T-Cell Leukemia 49
Ichthyosiform Erythroderma with Hypotrichosis and Hyper-Ige 24
Comèl-Netherton Syndrome 55
Ilc 24
Nts 71

Characteristics:

Orphanet epidemiological data:

55
netherton syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;
n syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: late childhood;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
n syndrome:
Inheritance x-linked inheritance

netherton syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Netherton Syndrome

OMIM : 53 Netherton syndrome is a rare and severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Generalized scaly erythroderma is apparent at or soon after birth and usually persists. Scalp hair is sparse and brittle with a characteristic 'bamboo' shape under light microscopic examination due to invagination of the distal part of the hair shaft to its proximal part. Atopic manifestations include eczema-like rashes, atopic dermatitis, pruritus, hay fever, angioedema, urticaria, high levels of IgE in the serum, and hypereosinophilia. Life-threatening complications are frequent during the neonatal period, including hypernatremic dehydration, hypothermia, extreme weight loss, bronchopneumonia, and sepsis. During childhood, failure to thrive is common as a result of malnutrition, metabolic disorders, chronic erythroderma, persistent cutaneous infections, or enteropathy (summary by Bitoun et al., 2002). (256500)

MalaCards based summary : Netherton Syndrome, also known as n syndrome, is related to ichthyosis and pustular psoriasis, and has symptoms including seizures, dry skin and intellectual disability. An important gene associated with Netherton Syndrome is SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5), and among its related pathways/superpathways are Defensins and Keratinization. The drugs Adalimumab and Pimecrolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and kidney, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Genetics Home Reference : 24 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.

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2608Disease definitionN syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.EpidemiologyThree cases have been described so far.EtiologyMutations in DNApolymerase alpha, leading to increased chromosome breakage, may be responsible for the syndrome.Genetic counselingX-linked recessive transmission has been proposed.Visit the Orphanet disease page for more resources. Last updated: 11/30/2006

UniProtKB/Swiss-Prot : 71 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 : 72 Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the... more...

Related Diseases for Netherton Syndrome

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

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 ichthyosis 30.4 FLG SPINK5 TGM1
2 pustular psoriasis 30.4 ELANE PI3
3 congenital ichthyosiform erythroderma 30.2 FLG SPINK5 TGM1
4 dermatitis 29.9 DSG1 FLG KLK7 SPINK5
5 ichthyosis vulgaris 29.9 FLG TGM1
6 psoriasis 29.8 ELANE FLG PI3 TGM1
7 skin disease 29.8 DSG1 FLG SPINK5 TGM1
8 dermatitis, atopic 29.6 FLG KLK7 SPINK5 TGM3
9 esophagitis, eosinophilic, 1 29.4 DSG1 FLG
10 colorectal cancer 11.5
11 hypertension, essential 11.2
12 pancreatic cancer 11.1
13 gastroesophageal reflux 11.0
14 short bowel syndrome 11.0
15 dumping syndrome 11.0
16 neuroendocrine tumor 11.0
17 duodenogastric reflux 11.0
18 vipoma 11.0
19 schizophrenia 11.0
20 zollinger-ellison syndrome 11.0
21 pancreatoblastoma 11.0
22 5-nucleotidase syndrome 11.0
23 parkinson disease, late-onset 10.9
24 tobacco addiction 10.9
25 rhizomelic chondrodysplasia punctata, type 2 10.9
26 neuroblastoma 10.9
27 hypotrichosis 1 10.9
28 infant botulism 10.9
29 restless legs syndrome 10.9
30 oropouche fever 10.9
31 functional diarrhea 10.9
32 amphetamine abuse 10.9
33 postgastrectomy syndrome 10.9
34 carcinoid syndrome 10.9
35 pancreatic islet cell tumors 10.9
36 pain agnosia 10.7
37 autonomic nervous system neoplasm 10.7
38 agnosia 10.7
39 ichthyosis, congenital, autosomal recessive 2 10.4 SPINK5 TGM1
40 irritant dermatitis 10.4 FLG PI3
41 pasteurellosis 10.4 ELANE PI3
42 farmer's lung 10.4 ELANE PI3
43 erysipelas 10.3 ELANE PI3
44 impetigo herpetiformis 10.3 ELANE PI3
45 filamentary keratitis 10.3 ELANE FLG
46 ichthyosis, congenital, autosomal recessive 4b 10.3 FLG TGM1
47 bronchopneumonia 10.2 ELANE PI3
48 papillon-lefevre syndrome 10.2 CTSG SPINK5
49 ichthyosis, x-linked 10.2 FLG TGM1
50 balanitis 10.1 TGM1 TGM3

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



Diseases related to Netherton Syndrome

Symptoms & Phenotypes for Netherton Syndrome

Symptoms via clinical synopsis from OMIM:

53
Growth Other:
failure to thrive

Immunology:
asthma
recurrent infections
angioedema
hay fever
elevated immunoglobulin e (ige)
more
Muscle Soft Tissue:
angioedema

Neurologic Central Nervous System:
developmental delay

Skin Nails Hair Hair:
sparse eyebrows
sparse, brittle scalp hair
trichorrhexis invaginata ("bamboo hair")

Hematology:
hypereosinophilia

Respiratory Airways:
asthma

Skin Nails Hair Skin:
urticaria
generalized erythroderma
ichthyosis linearis circumflexa
congenital lamellar ichthyosis

Metabolic Features:
hypernatremic dehydration

Head And Neck Eyes:
sparse eyebrows

Abdomen Gastroin testinal:
enteropathy with villous atrophy


Clinical features from OMIM:

256500 310465

Human phenotypes related to Netherton Syndrome:

55 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
2 dry skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0000958
3 intellectual disability 55 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001249
4 spasticity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001257
5 global developmental delay 55 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001263
6 recurrent respiratory infections 55 31 frequent (33%) Frequent (79-30%) HP:0002205
7 malabsorption 55 31 hallmark (90%) Very frequent (99-80%) HP:0002024
8 visual impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000505
9 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
10 dehydration 55 31 occasional (7.5%) Occasional (29-5%) HP:0001944
11 aminoaciduria 55 31 occasional (7.5%) Occasional (29-5%) HP:0003355
12 emphysema 55 31 frequent (33%) Frequent (79-30%) HP:0002097
13 acanthosis nigricans 55 31 hallmark (90%) Very frequent (99-80%) HP:0000956
14 ectopic kidney 55 31 occasional (7.5%) Occasional (29-5%) HP:0000086
15 megalocornea 55 31 hallmark (90%) Very frequent (99-80%) HP:0000485
16 cryptorchidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000028
17 decreased antibody level in blood 55 31 frequent (33%) Frequent (79-30%) HP:0004313
18 hypospadias 55 31 hallmark (90%) Very frequent (99-80%) HP:0000047
19 irregular hyperpigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007400
20 asthma 55 31 hallmark (90%) Very frequent (99-80%) HP:0002099
21 recurrent infections 55 31 Occasional (29-5%) HP:0002719
22 sparse scalp hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002209
23 fine hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002213
24 skin rash 55 31 occasional (7.5%) Occasional (29-5%) HP:0000988
25 eczema 55 31 hallmark (90%) Very frequent (99-80%) HP:0000964
26 urticaria 55 31 hallmark (90%) Very frequent (99-80%) HP:0001025
27 hydronephrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000126
28 erythroderma 55 31 occasional (7.5%) Occasional (29-5%) HP:0001019
29 trichorrhexis nodosa 55 31 hallmark (90%) Very frequent (99-80%) HP:0009886
30 sparse eyelashes 55 31 occasional (7.5%) Occasional (29-5%) HP:0000653
31 increased ige level 55 31 hallmark (90%) Very frequent (99-80%) HP:0003212
32 congenital nonbullous ichthyosiform erythroderma 55 31 hallmark (90%) Very frequent (99-80%) HP:0007479
33 bilateral sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0008619
34 t-cell lymphoma/leukemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0005517
35 failure to thrive 31 HP:0001508
36 hearing impairment 31 HP:0000365
37 ichthyosis 55 Very frequent (99-80%)
38 neoplasm 31 HP:0002664
39 abnormality of the eyelid 55 Very frequent (99-80%)
40 abnormality of chromosome stability 31 HP:0003220
41 abnormality of the musculature 31 HP:0003011
42 abnormality of the hair 55 Very frequent (99-80%)
43 immunologic hypersensitivity 55 Very frequent (99-80%)
44 sparse eyebrow 55 Occasional (29-5%)
45 angioedema 31 HP:0100665
46 allergic rhinitis 31 HP:0003193
47 brittle hair 31 HP:0002299
48 leukemia 31 HP:0001909
49 villous atrophy 31 HP:0011473
50 abnormality of the globe 55 Very frequent (99-80%)

UMLS symptoms related to Netherton Syndrome:


trichorrhexis invaginata

GenomeRNAi Phenotypes related to Netherton Syndrome according to GeneCards Suite gene sharing:

25 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.58 CTRL
2 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.58 CTSG
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.58 CTRL
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.58 SLC26A2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.58 CTRL
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.58 CTRL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.58 CTSG SLC26A2 CTRL
8 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.58 SLC26A2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.58 CTSG
10 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.58 SLC26A2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.58 CTSG
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.58 CTRL
13 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.58 CTSG
14 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.58 CTRL
15 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.58 CTSG
16 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.58 CTRL

Drugs & Therapeutics for Netherton Syndrome

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adalimumab Approved Phase 2 331731-18-1 16219006
2
Pimecrolimus Approved, Investigational Phase 1, Phase 2 137071-32-0 17753757 6447131
3
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
4 Anti-Inflammatory Agents Phase 2,Phase 1
5 Antirheumatic Agents Phase 2,Phase 1
6 Analgesics Phase 1, Phase 2
7 Analgesics, Non-Narcotic Phase 1, Phase 2
8 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
9 Calcineurin Inhibitors Phase 1, Phase 2
10 Dermatologic Agents Phase 1, Phase 2
11 Immunosuppressive Agents Phase 1, Phase 2
12 Peripheral Nervous System Agents Phase 1, Phase 2
13 Antibodies Phase 2
14 Antibodies, Monoclonal Phase 2
15 Immunoglobulins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial Using Humira in Netherton Syndrome Completed NCT02113904 Phase 2 Adalimumab
2 Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome Completed NCT00208026 Phase 1, Phase 2 Pimecrolimus 1% Cream
3 The Efficacy and Safety of Secukinumab in Patients With Ichthyoses Recruiting NCT03041038 Phase 2 Secukinumab;Placebo
4 A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton Syndrome Completed NCT01428297 Phase 1 BPR277 ointment (controlled application);Placebo (Vehicle);BPR277 ointment;Placebo (Vehicle);BPR277;Placebo (Vehicle)
5 Gene Therapy for Netherton Syndrome Recruiting NCT01545323 Phase 1
6 Natural History and Biological Study of Netherton Syndrome Unknown status NCT02081313
7 Defining the Skin and Blood Biomarkers of Ichthyosis Recruiting NCT03417856
8 Natural History of Diseases Associated With Allergic Inflammation: Atopic Dermatitis and Genetic and Congenital Diseases Associated With Atopic Pathways Recruiting NCT01164241

Search NIH Clinical Center for Netherton Syndrome

Cochrane evidence based reviews: netherton syndrome

Genetic Tests for Netherton Syndrome

Genetic tests related to Netherton Syndrome:

# Genetic test Affiliating Genes
1 Netherton Syndrome 28 SPINK5
2 N Syndrome 28 POLA1

Anatomical Context for Netherton Syndrome

MalaCards organs/tissues related to Netherton Syndrome:

38
Skin, T Cells, Kidney, Eye, Testes, Colon, Thymus

Publications for Netherton Syndrome

Articles related to Netherton Syndrome:

(show top 50) (show all 151)
# Title Authors Year
1
Desquamating Rash in a Patient with Undiagnosed Netherton Syndrome. ( 29106927 )
2018
2
Pregnancy in a patient with Netherton syndrome. ( 29218716 )
2018
3
Considerations in surgical management of a Buschke-Lowenstein tumor in Netherton syndrome: A case report. ( 29144034 )
2017
4
A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course. ( 28832989 )
2017
5
Netherton syndrome in association with vitamin D deficiency. ( 28686763 )
2017
6
KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype. ( 28095415 )
2017
7
A case of Netherton syndrome with mutation in SPINK5 and FLG. ( 28943498 )
2017
8
Infliximab therapy for Netherton syndrome: A case report. ( 29159247 )
2017
9
Phage Therapy in a 16-Year-Old Boy with Netherton Syndrome. ( 28717637 )
2017
10
Diagnostic criteria of Netherton syndrome using noninvasive reflectance confocal microscopy. ( 27119479 )
2016
11
Mechanistic insight from murine models of Netherton syndrome. ( 27710911 )
2016
12
A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome. ( 26997095 )
2016
13
Treatment of ichthyosis and hypernatremia in a patient with Netherton syndrome with a SPINK5 c.153delT mutation using kallikrein inhibiting ointment. ( 26889743 )
2016
14
A viable mouse model for Netherton syndrome based on mosaic inactivation of the Spink5 gene. ( 27543783 )
2016
15
The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition. ( 27190931 )
2016
16
Airborne transmission from a neonate with Netherton syndrome during an outbreak of MRSA. ( 26900026 )
2016
17
Eosinophilic esophagitis and colonic mucosal eosinophilia in Netherton syndrome. ( 28025013 )
2016
18
Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation. ( 26865388 )
2016
19
Exocrine pancreatic insufficiency in a child with Netherton syndrome. ( 26986028 )
2016
20
Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings. ( 26825155 )
2016
21
Netherton Syndrome Mimicking Pustular Psoriasis: Clinical Implications and Response to Intravenous Immunoglobulin. ( 27086664 )
2016
22
Rare case of Netherton syndrome with generalized lentigines. ( 27988933 )
2016
23
Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome. ( 28289593 )
2016
24
A case of netherton syndrome: successful treatment with omalizumab and pulse prednisolone and its effects on cytokines and immunoglobulin levels. ( 26592187 )
2016
25
Netherton Syndrome: A Genotype-Phenotype Review. ( 27905021 )
2016
26
New mutation leading to the full variety of typical features of the Netherton syndrome. ( 26031502 )
2015
27
Penile cancer in a man with netherton syndrome. ( 25817126 )
2015
28
Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work review. ( 25917539 )
2015
29
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome. ( 25710899 )
2015
30
Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism. ( 26229701 )
2015
31
KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome. ( 26390218 )
2015
32
Recurrent pustular eruption masquerading as pustular psoriasis in Netherton syndrome. ( 25440527 )
2015
33
Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT. ( 26365906 )
2015
34
Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome. ( 25672309 )
2015
35
Corrigendum to "Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism". ( 26550512 )
2015
36
Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome. ( 24506793 )
2014
37
Netherton syndrome: defective kallikrein inhibition in the skin leads to skin inflammation and allergy. ( 25153381 )
2014
38
Netherton syndrome associated with growth hormone deficiency. ( 24015757 )
2014
39
Rapid and easy diagnosis of Netherton syndrome with dermoscopy. ( 25008447 )
2014
40
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
41
IgE allergen component-based profiling and atopic manifestations in patients with Netherton syndrome. ( 25159469 )
2014
42
Molecular analysis of a series of Israeli families with ComA"l-Netherton syndrome. ( 24577329 )
2014
43
Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum. ( 25526335 )
2014
44
Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks of Netherton syndrome. ( 24534191 )
2014
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
Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, netherton syndrome. ( 24329107 )
2013
47
Netherton syndrome with pili torti. ( 24778540 )
2013
48
Intercellular Skin Barrier Lipid Composition and Organization in Netherton Syndrome Patients. ( 24292773 )
2013
49
Case of Netherton syndrome with an elevated serum thymus and activation-regulated chemokine level. ( 23802543 )
2013
50
Complete Maternal Isodisomy of Chromosome 5 in a Japanese Patient with Netherton Syndrome. ( 24042343 )
2013

Variations for Netherton Syndrome

ClinVar genetic disease variations for Netherton Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SPINK5 NM_006846.3(SPINK5): c.2368C> T (p.Arg790Ter) single nucleotide variant Pathogenic rs121908387 GRCh37 Chromosome 5, 147499626: 147499626
2 SPINK5 NM_006846.3(SPINK5): c.283-2A> T single nucleotide variant Pathogenic rs587777749 GRCh38 Chromosome 5, 148086403: 148086403
3 SPINK5 NM_006846.3(SPINK5): c.2468dupA (p.Lys824Glufs) duplication Pathogenic rs587777750 GRCh38 Chromosome 5, 148120321: 148120321
4 SPINK5 NM_006846.3(SPINK5): c.652C> T (p.Arg218Ter) single nucleotide variant Pathogenic rs199757347 GRCh38 Chromosome 5, 148091214: 148091214
5 SPINK5 NM_006846.3(SPINK5): c.3018T> A (p.Cys1006Ter) single nucleotide variant Pathogenic rs766978225 GRCh38 Chromosome 5, 148131312: 148131312

Cosmic variations for Netherton Syndrome:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM584 NRAS skin,scalp,benign melanocytic nevus,congenital c.182A>G p.Q61R 5
2 COSM580 NRAS skin,scalp,benign melanocytic nevus,congenital c.181C>A p.Q61K 5

Expression for Netherton Syndrome

Search GEO for disease gene expression data for Netherton Syndrome.

Pathways for Netherton Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.5 CTSG ELANE PI3
2
Show member pathways
11.48 DSG1 FLG PI3 SPINK5 TGM1

GO Terms for Netherton Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.81 CTSG DSG1 ELANE GBA PI3 SLC26A2
2 epidermal lamellar body GO:0097209 8.96 KLK7 SPINK5
3 cornified envelope GO:0001533 8.92 DSG1 FLG PI3 TGM1

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

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.65 DSG1 TGM1 TGM3
2 extracellular matrix disassembly GO:0022617 9.54 CTSG ELANE KLK7
3 keratinocyte differentiation GO:0030216 9.5 FLG TGM1 TGM3
4 defense response to fungus GO:0050832 9.46 CTSG ELANE
5 negative regulation of growth of symbiont in host GO:0044130 9.43 CTSG ELANE
6 antimicrobial humoral response GO:0019730 9.43 CTSG ELANE PI3
7 positive regulation of immune response GO:0050778 9.4 CTSG ELANE
8 peptide cross-linking GO:0018149 9.26 FLG PI3 TGM1 TGM3
9 cell envelope organization GO:0043163 9.16 TGM1 TGM3
10 cornification GO:0070268 9.02 DSG1 FLG PI3 SPINK5 TGM1

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.62 CTRL CTSG ELANE KLK7
2 structural constituent of epidermis GO:0030280 9.26 FLG PI3
3 serine-type endopeptidase activity GO:0004252 9.26 CTRL CTSG ELANE KLK7
4 protein-glutamine gamma-glutamyltransferase activity GO:0003810 9.16 TGM1 TGM3
5 serine-type peptidase activity GO:0008236 8.92 CTRL CTSG ELANE KLK7

Sources for Netherton Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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