NSX
MCID: NTH001
MIFTS: 59

Netherton Syndrome (NSX)

Categories: Blood diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Netherton Syndrome

MalaCards integrated aliases for Netherton Syndrome:

Name: Netherton Syndrome 58 12 77 54 26 60 76 38 30 13 56 6 45 15 41
N Syndrome 58 12 54 60 30 13 15 41 74
Netherton Disease 58 54 26 76
Neth 58 54 26 76
Ns 58 26 60 76
Comel-Netherton Syndrome 58 26 76
Nsx 58 12 54
Erythroderma, Ichthyosiform, with Hypotrichosis and Hyper-Ige 58 76
Ichthyosis Linearis Circumflexa 26 74
Bamboo Hair Syndrome 26 60
Mental Retardation, Malformations, Chromosome Breakage, and Development of T-Cell Leukemia 54
Ichthyosiform Erythroderma with Hypotrichosis and Hyper-Ige 26
Comèl-Netherton Syndrome 60
Ilc 26
Nts 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

Miscellaneous:
some severely affected infants die in the neonatal period


HPO:

33
n syndrome:
Inheritance x-linked inheritance

netherton syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Netherton Syndrome

OMIM : 58 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 trichorrhexis invaginata An important gene associated with Netherton Syndrome is SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5), and among its related pathways/superpathways are Developmental Biology and Defensins. The drugs Adalimumab and Pimecrolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and heart, and related phenotypes are intellectual disability and spasticity

Disease Ontology : 12 An autosomal recessive disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has material basis in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin.

Genetics Home Reference : 26 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 : 54 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.

UniProtKB/Swiss-Prot : 76 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 : 77 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 313)
# Related Disease Score Top Affiliating Genes
1 ichthyosis 30.6 FLG SPINK5 TGM1
2 pustular psoriasis 30.4 ELANE PI3
3 dermatitis 30.1 DSG1 FLG KLK7 SPINK5
4 ichthyosis vulgaris 30.0 FLG SPINK5 TGM1
5 lung disease 29.6 CTSG ELANE PI3
6 skin disease 29.2 DSG1 FLG KLK7 PI3 SPINK5 TGM1
7 pancreatic cancer 11.6
8 hypertension, essential 11.5
9 gastroesophageal reflux 11.2
10 short bowel syndrome 11.2
11 dumping syndrome 11.2
12 neuroendocrine tumor 11.2
13 duodenogastric reflux 11.2
14 vipoma 11.2
15 schizophrenia 11.2
16 zollinger-ellison syndrome 11.2
17 pancreatoblastoma 11.2
18 5-nucleotidase syndrome 11.2
19 thyroid carcinoma, familial medullary 11.1
20 tobacco addiction 11.1
21 rhizomelic chondrodysplasia punctata, type 2 11.1
22 hypotrichosis 1 11.1
23 infant botulism 11.1
24 oropouche fever 11.1
25 neuronal intestinal dysplasia 11.1
26 ampulla of vater neoplasm 11.1
27 functional diarrhea 11.1
28 duodenal benign neoplasm 11.1
29 constipation 11.1
30 space motion sickness 11.1
31 amphetamine abuse 11.1
32 postgastrectomy syndrome 11.1
33 carcinoid syndrome 11.1
34 neuroblastoma 1 10.9
35 peripheral nervous system neoplasm 10.9
36 autonomic nervous system neoplasm 10.9
37 rere-related disorders 10.6
38 dwarfism 10.4
39 congestive heart failure 10.4
40 scleroderma, familial progressive 10.3
41 prostatic hyperplasia, benign 10.3
42 prostatic adenoma 10.3
43 irritant dermatitis 10.3 FLG PI3
44 atrial fibrillation 10.3
45 ichthyosis, congenital, autosomal recessive 2 10.3 SPINK5 TGM1
46 heart disease 10.2
47 farmer's lung 10.2 ELANE PI3
48 ichthyosis, congenital, autosomal recessive 4b 10.2 FLG TGM1
49 myocardial infarction 10.2
50 erysipelas 10.2 ELANE PI3

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



Diseases related to Netherton Syndrome

Symptoms & Phenotypes for Netherton Syndrome

Human phenotypes related to Netherton Syndrome:

60 33 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001249
2 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
3 global developmental delay 60 33 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001263
4 malabsorption 60 33 hallmark (90%) Very frequent (99-80%) HP:0002024
5 visual impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000505
6 acanthosis nigricans 60 33 hallmark (90%) Very frequent (99-80%) HP:0000956
7 megalocornea 60 33 hallmark (90%) Very frequent (99-80%) HP:0000485
8 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
9 hypospadias 60 33 hallmark (90%) Very frequent (99-80%) HP:0000047
10 irregular hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007400
11 asthma 60 33 hallmark (90%) Very frequent (99-80%) HP:0002099
12 sparse scalp hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002209
13 fine hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002213
14 eczema 60 33 hallmark (90%) Very frequent (99-80%) HP:0000964
15 urticaria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001025
16 trichorrhexis nodosa 60 33 hallmark (90%) Very frequent (99-80%) HP:0009886
17 congenital nonbullous ichthyosiform erythroderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0007479
18 bilateral sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0008619
19 t-cell lymphoma/leukemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005517
20 increased circulating total ige level 33 hallmark (90%) HP:0003212
21 abnormal eyelid morphology 33 hallmark (90%) HP:0000492
22 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
23 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
24 emphysema 60 33 frequent (33%) Frequent (79-30%) HP:0002097
25 decreased antibody level in blood 60 33 frequent (33%) Frequent (79-30%) HP:0004313
26 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
27 dehydration 60 33 occasional (7.5%) Occasional (29-5%) HP:0001944
28 aminoaciduria 60 33 occasional (7.5%) Occasional (29-5%) HP:0003355
29 ectopic kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0000086
30 dry skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0000958
31 skin rash 60 33 occasional (7.5%) Occasional (29-5%) HP:0000988
32 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
33 erythroderma 60 33 occasional (7.5%) Occasional (29-5%) HP:0001019
34 sparse eyelashes 60 33 occasional (7.5%) Occasional (29-5%) HP:0000653
35 sparse and thin eyebrow 33 occasional (7.5%) HP:0000535
36 recurrent infections 60 33 Occasional (29-5%) HP:0002719
37 failure to thrive 33 HP:0001508
38 hearing impairment 33 HP:0000365
39 ichthyosis 60 Very frequent (99-80%)
40 neoplasm 33 HP:0002664
41 abnormality of the eyelid 60 Very frequent (99-80%)
42 abnormality of chromosome stability 33 HP:0003220
43 abnormality of the musculature 33 HP:0003011
44 abnormality of the hair 60 Very frequent (99-80%)
45 immunologic hypersensitivity 60 Very frequent (99-80%)
46 sparse eyebrow 60 Occasional (29-5%)
47 angioedema 33 HP:0100665
48 leukemia 33 HP:0001909
49 allergic rhinitis 33 HP:0003193
50 increased ige level 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

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 Gastrointestinal:
enteropathy with villous atrophy
intestinal atresia (rare)

Skin Nails Hair Skin Histology:
parakeratosis
psoriasiform epidermal hyperplasia

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

Clinical features from OMIM:

256500 310465

UMLS symptoms related to Netherton Syndrome:


trichorrhexis invaginata

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

27 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.6 CTRL
2 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.6 CTSG
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.6 CTRL
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.6 SLC26A2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.6 SLC26A2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.6 CTRL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.6 CTRL
8 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.6 CTRL CTSG SLC26A2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.6 SLC26A2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.6 CTSG
11 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.6 SLC26A2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.6 CTSG
13 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.6 CTRL
14 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.6 CTSG
15 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.6 CTRL
16 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.6 CTSG
17 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.6 CTRL

Drugs & Therapeutics for Netherton Syndrome

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

(show all 16)
# 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 6473866 445643 439492
4 Antirheumatic Agents Phase 2,Phase 1
5 Anti-Inflammatory Agents Phase 2,Phase 1
6 Dermatologic Agents Phase 1, Phase 2
7 Immunosuppressive Agents Phase 1, Phase 2
8 Analgesics Phase 1, Phase 2
9 Analgesics, Non-Narcotic Phase 1, Phase 2
10 Peripheral Nervous System Agents Phase 1, Phase 2
11 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
12 Calcineurin Inhibitors Phase 1, Phase 2
13 Immunologic Factors Phase 1, Phase 2,Phase 2
14 Immunoglobulins Phase 2
15 Antibodies, Monoclonal Phase 2
16 Antibodies 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 Active, not recruiting NCT03041038 Phase 2 Secukinumab;Placebo
4 Gene Therapy for Netherton Syndrome Unknown status NCT01545323 Phase 1
5 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)
6 Natural History and Biological Study of Netherton Syndrome Unknown status NCT02081313 Not Applicable
7 Defining the Skin and Blood Biomarkers of Ichthyosis Recruiting NCT03417856

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 30 SPINK5
2 N Syndrome 30

Anatomical Context for Netherton Syndrome

MalaCards organs/tissues related to Netherton Syndrome:

42
Skin, T Cells, Heart, Prostate, Kidney, Liver, Thyroid

Publications for Netherton Syndrome

Articles related to Netherton Syndrome:

(show top 50) (show all 171)
# Title Authors Year
1
Kallikrein 5 inhibitors identified through structure based drug design in search for a treatment for Netherton Syndrome. ( 30691925 )
2019
2
LEKTI domains 6, 7 and 8+9 serve as substrates for transglutaminase 1: implications for targeted therapy of Netherton syndrome. ( 30801672 )
2019
3
Structure guided drug design to develop kallikrein 5 inhibitors to treat Netherton syndrome. ( 31005442 )
2019
4
Evaluation of a crystallographic surrogate for kallikrein 5 in the discovery of novel inhibitors for Netherton syndrome. ( 31045568 )
2019
5
Amnion membrane allografts in a critically ill infant with Netherton syndrome-like phenotype. ( 31049379 )
2019
6
Desquamating Rash in a Patient with Undiagnosed Netherton Syndrome. ( 29106927 )
2018
7
Pregnancy in a patient with Netherton syndrome. ( 29218716 )
2018
8
An 8-Year-Old Child with Delayed Diagnosis of Netherton Syndrome. ( 29527381 )
2018
9
Image Gallery: Brimonidine gel for facial erythema in Netherton syndrome. ( 29668104 )
2018
10
Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy. ( 29781262 )
2018
11
Netherton syndrome: A neonatal case with respiratory insufficiency. ( 30016041 )
2018
12
Netherton syndrome; neuropsychological and psychosocial functioning of child and adult patients and their parents. ( 30129381 )
2018
13
Netherton Syndrome: A Case Report and Review of Literature. ( 30280066 )
2018
14
Immune cell phenotype and functional defects in Netherton syndrome. ( 30477583 )
2018
15
Non-alcoholic steatohepatitis associated with Netherton syndrome. ( 30567081 )
2018
16
Considerations in surgical management of a Buschke-Lowenstein tumor in Netherton syndrome: A case report. ( 29144034 )
2017
17
Eosinophilic esophagitis and colonic mucosal eosinophilia in Netherton syndrome. ( 28025013 )
2017
18
Treatment of ichthyosis and hypernatremia in a patient with Netherton syndrome with a SPINK5 c.153delT mutation using kallikrein inhibiting ointment. ( 26889743 )
2017
19
A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course. ( 28832989 )
2017
20
Rare case of Netherton syndrome with generalized lentigines. ( 27988933 )
2017
21
Netherton Syndrome: A Genotype-Phenotype Review. ( 27905021 )
2017
22
KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype. ( 28095415 )
2017
23
Netherton syndrome in association with vitamin D deficiency. ( 28686763 )
2017
24
Phage Therapy in a 16-Year-Old Boy with Netherton Syndrome. ( 28717637 )
2017
25
A case of Netherton syndrome with mutation in SPINK5 and FLG. ( 28943498 )
2017
26
Infliximab therapy for Netherton syndrome: A case report. ( 29159247 )
2017
27
Exocrine pancreatic insufficiency in a child with Netherton syndrome. ( 26986028 )
2016
28
ICHTHYOSIS LINEARIS CIRCUMFLEXA: NOT ALWAYS A PART OF NETHERTON SYNDROME. ( 30204963 )
2016
29
A case of netherton syndrome: successful treatment with omalizumab and pulse prednisolone and its effects on cytokines and immunoglobulin levels. ( 26592187 )
2016
30
Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings. ( 26825155 )
2016
31
Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation. ( 26865388 )
2016
32
Airborne transmission from a neonate with Netherton syndrome during an outbreak of MRSA. ( 26900026 )
2016
33
A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome. ( 26997095 )
2016
34
Netherton Syndrome Mimicking Pustular Psoriasis: Clinical Implications and Response to Intravenous Immunoglobulin. ( 27086664 )
2016
35
Diagnostic criteria of Netherton syndrome using noninvasive reflectance confocal microscopy. ( 27119479 )
2016
36
The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition. ( 27190931 )
2016
37
A viable mouse model for Netherton syndrome based on mosaic inactivation of the Spink5 gene. ( 27543783 )
2016
38
Mechanistic insight from murine models of Netherton syndrome. ( 27710911 )
2016
39
Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome. ( 28289593 )
2016
40
Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism. ( 26229701 )
2015
41
Corrigendum to "Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism". ( 26550512 )
2015
42
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome. ( 25710899 )
2015
43
Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work review. ( 25917539 )
2015
44
New mutation leading to the full variety of typical features of the Netherton syndrome. ( 26031502 )
2015
45
Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT. ( 26365906 )
2015
46
KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome. ( 26390218 )
2015
47
Recurrent pustular eruption masquerading as pustular psoriasis in Netherton syndrome. ( 25440527 )
2015
48
Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome. ( 25672309 )
2015
49
Penile cancer in a man with netherton syndrome. ( 25817126 )
2015
50
Netherton syndrome associated with growth hormone deficiency. ( 24015757 )
2014

Variations for Netherton Syndrome

ClinVar genetic disease variations for Netherton Syndrome:

6 (show top 50) (show all 234)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPINK5 NM_006846.3(SPINK5): c.283-2A> T single nucleotide variant Pathogenic rs587777749 GRCh37 Chromosome 5, 147465966: 147465966
2 SPINK5 NM_006846.3(SPINK5): c.2368C> T (p.Arg790Ter) single nucleotide variant Pathogenic rs121908387 GRCh37 Chromosome 5, 147499626: 147499626
3 SPINK5 NM_006846.3(SPINK5): c.2368C> T (p.Arg790Ter) single nucleotide variant Pathogenic rs121908387 GRCh38 Chromosome 5, 148120063: 148120063
4 SPINK5 NM_006846.3(SPINK5): c.283-2A> T single nucleotide variant Pathogenic rs587777749 GRCh38 Chromosome 5, 148086403: 148086403
5 SPINK5 NM_006846.3(SPINK5): c.2468dupA (p.Lys824Glufs) duplication Pathogenic rs565782662 GRCh38 Chromosome 5, 148120321: 148120321
6 SPINK5 NM_006846.3(SPINK5): c.2468dupA (p.Lys824Glufs) duplication Pathogenic rs565782662 GRCh37 Chromosome 5, 147499884: 147499884
7 SPINK5 NM_006846.3(SPINK5): c.1258A> G (p.Lys420Glu) single nucleotide variant Benign rs2303067 GRCh37 Chromosome 5, 147480955: 147480955
8 SPINK5 NM_006846.3(SPINK5): c.1258A> G (p.Lys420Glu) single nucleotide variant Benign rs2303067 GRCh38 Chromosome 5, 148101392: 148101392
9 SPINK5 NM_006846.3(SPINK5): c.316G> A (p.Asp106Asn) single nucleotide variant Benign/Likely benign rs17860502 GRCh38 Chromosome 5, 148086438: 148086438
10 SPINK5 NM_006846.3(SPINK5): c.316G> A (p.Asp106Asn) single nucleotide variant Benign/Likely benign rs17860502 GRCh37 Chromosome 5, 147466001: 147466001
11 SPINK5 NM_006846.3(SPINK5): c.531G> A (p.Arg177=) single nucleotide variant Benign/Likely benign rs35121983 GRCh38 Chromosome 5, 148089550: 148089550
12 SPINK5 NM_006846.3(SPINK5): c.531G> A (p.Arg177=) single nucleotide variant Benign/Likely benign rs35121983 GRCh37 Chromosome 5, 147469113: 147469113
13 SPINK5 NM_006846.3(SPINK5): c.800A> G (p.Gln267Arg) single nucleotide variant Benign rs6892205 GRCh38 Chromosome 5, 148095823: 148095823
14 SPINK5 NM_006846.3(SPINK5): c.800A> G (p.Gln267Arg) single nucleotide variant Benign rs6892205 GRCh37 Chromosome 5, 147475386: 147475386
15 SPINK5 NM_006846.3(SPINK5): c.1004C> T (p.Ala335Val) single nucleotide variant Benign rs34482796 GRCh38 Chromosome 5, 148097988: 148097988
16 SPINK5 NM_006846.3(SPINK5): c.1004C> T (p.Ala335Val) single nucleotide variant Benign rs34482796 GRCh37 Chromosome 5, 147477551: 147477551
17 SPINK5 NM_006846.3(SPINK5): c.1156G> A (p.Asp386Asn) single nucleotide variant Benign rs2303064 GRCh38 Chromosome 5, 148100517: 148100517
18 SPINK5 NM_006846.3(SPINK5): c.1156G> A (p.Asp386Asn) single nucleotide variant Benign rs2303064 GRCh37 Chromosome 5, 147480080: 147480080
19 SPINK5 NM_006846.3(SPINK5): c.1188T> C (p.His396=) single nucleotide variant Benign rs2303065 GRCh38 Chromosome 5, 148100549: 148100549
20 SPINK5 NM_006846.3(SPINK5): c.1188T> C (p.His396=) single nucleotide variant Benign rs2303065 GRCh37 Chromosome 5, 147480112: 147480112
21 SPINK5 NM_006846.3(SPINK5): c.1552C> T (p.Arg518Cys) single nucleotide variant Benign/Likely benign rs115504632 GRCh38 Chromosome 5, 148107109: 148107109
22 SPINK5 NM_006846.3(SPINK5): c.1552C> T (p.Arg518Cys) single nucleotide variant Benign/Likely benign rs115504632 GRCh37 Chromosome 5, 147486672: 147486672
23 SPINK5 NM_006846.3(SPINK5): c.1851T> C (p.Ala617=) single nucleotide variant Benign/Likely benign rs17718737 GRCh38 Chromosome 5, 148112898: 148112898
24 SPINK5 NM_006846.3(SPINK5): c.1851T> C (p.Ala617=) single nucleotide variant Benign/Likely benign rs17718737 GRCh37 Chromosome 5, 147492461: 147492461
25 SPINK5 NM_006846.3(SPINK5): c.2475G> T (p.Glu825Asp) single nucleotide variant Benign rs2303070 GRCh38 Chromosome 5, 148120328: 148120328
26 SPINK5 NM_006846.3(SPINK5): c.2475G> T (p.Glu825Asp) single nucleotide variant Benign rs2303070 GRCh37 Chromosome 5, 147499891: 147499891
27 SPINK5 NM_006846.3(SPINK5): c.2667-13A> T single nucleotide variant Benign rs2052537 GRCh38 Chromosome 5, 148124752: 148124752
28 SPINK5 NM_006846.3(SPINK5): c.2667-13A> T single nucleotide variant Benign rs2052537 GRCh37 Chromosome 5, 147504315: 147504315
29 SPINK5 NM_006846.3(SPINK5): c.1659C> T (p.Val553=) single nucleotide variant Benign rs2303071 GRCh37 Chromosome 5, 147488367: 147488367
30 SPINK5 NM_006846.3(SPINK5): c.1659C> T (p.Val553=) single nucleotide variant Benign rs2303071 GRCh38 Chromosome 5, 148108804: 148108804
31 SPINK5 NM_001127698.1(SPINK5): c.2812_2813delGT (p.Val938Cysfs) deletion Uncertain significance rs797045108 GRCh37 Chromosome 5, 147505159: 147505160
32 SPINK5 NM_001127698.1(SPINK5): c.2812_2813delGT (p.Val938Cysfs) deletion Uncertain significance rs797045108 GRCh38 Chromosome 5, 148125596: 148125597
33 SPINK5 NM_006846.3(SPINK5): c.209+15C> T single nucleotide variant Benign/Likely benign rs3752677 GRCh38 Chromosome 5, 148070465: 148070465
34 SPINK5 NM_006846.3(SPINK5): c.209+15C> T single nucleotide variant Benign/Likely benign rs3752677 GRCh37 Chromosome 5, 147450028: 147450028
35 SPINK5 NM_006846.3(SPINK5): c.1011-12C> T single nucleotide variant Benign rs1422991 GRCh38 Chromosome 5, 148099222: 148099222
36 SPINK5 NM_006846.3(SPINK5): c.1011-12C> T single nucleotide variant Benign rs1422991 GRCh37 Chromosome 5, 147478785: 147478785
37 SPINK5 NM_006846.3(SPINK5): c.1093-10A> G single nucleotide variant Benign rs2303062 GRCh38 Chromosome 5, 148100444: 148100444
38 SPINK5 NM_006846.3(SPINK5): c.1093-10A> G single nucleotide variant Benign rs2303062 GRCh37 Chromosome 5, 147480007: 147480007
39 SPINK5 NM_006846.3(SPINK5): c.1103G> A (p.Ser368Asn) single nucleotide variant Benign rs2303063 GRCh38 Chromosome 5, 148100464: 148100464
40 SPINK5 NM_006846.3(SPINK5): c.1103G> A (p.Ser368Asn) single nucleotide variant Benign rs2303063 GRCh37 Chromosome 5, 147480027: 147480027
41 SPINK5 NM_006846.3(SPINK5): c.1344G> A (p.Arg448=) single nucleotide variant Benign/Likely benign rs17107741 GRCh38 Chromosome 5, 148101822: 148101822
42 SPINK5 NM_006846.3(SPINK5): c.1344G> A (p.Arg448=) single nucleotide variant Benign/Likely benign rs17107741 GRCh37 Chromosome 5, 147481385: 147481385
43 SPINK5 NM_006846.3(SPINK5): c.1389A> G (p.Gly463=) single nucleotide variant Benign rs6896303 GRCh38 Chromosome 5, 148101867: 148101867
44 SPINK5 NM_006846.3(SPINK5): c.1389A> G (p.Gly463=) single nucleotide variant Benign rs6896303 GRCh37 Chromosome 5, 147481430: 147481430
45 SPINK5 NM_006846.3(SPINK5): c.1557C> A (p.Gly519=) single nucleotide variant Benign rs880687 GRCh38 Chromosome 5, 148107114: 148107114
46 SPINK5 NM_006846.3(SPINK5): c.1557C> A (p.Gly519=) single nucleotide variant Benign rs880687 GRCh37 Chromosome 5, 147486677: 147486677
47 SPINK5 NM_006846.3(SPINK5): c.2132G> A (p.Arg711Gln) single nucleotide variant Benign rs3777134 GRCh38 Chromosome 5, 148118456: 148118456
48 SPINK5 NM_006846.3(SPINK5): c.2132G> A (p.Arg711Gln) single nucleotide variant Benign rs3777134 GRCh37 Chromosome 5, 147498019: 147498019
49 SPINK5 NM_006846.3(SPINK5): c.2358C> T (p.Leu786=) single nucleotide variant Benign rs17704908 GRCh38 Chromosome 5, 148120053: 148120053
50 SPINK5 NM_006846.3(SPINK5): c.2358C> T (p.Leu786=) single nucleotide variant Benign rs17704908 GRCh37 Chromosome 5, 147499616: 147499616

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
12.77 DSG1 FLG PI3 SPINK5 TGM1
2
Show member pathways
11.48 CTSG ELANE PI3
3
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 collagen-containing extracellular matrix GO:0062023 9.43 CTSG ELANE FLG
2 secretory granule GO:0030141 9.33 CTSG ELANE KLK7
3 epidermal lamellar body GO:0097209 8.96 KLK7 SPINK5
4 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 proteolysis GO:0006508 9.73 CTRL CTSG ELANE KLK7
2 protein catabolic process GO:0030163 9.46 CTRL ELANE
3 extracellular matrix disassembly GO:0022617 9.43 CTSG ELANE KLK7
4 defense response to fungus GO:0050832 9.4 CTSG ELANE
5 negative regulation of growth of symbiont in host GO:0044130 9.37 CTSG ELANE
6 antimicrobial humoral response GO:0019730 9.33 CTSG ELANE PI3
7 positive regulation of immune response GO:0050778 9.32 CTSG ELANE
8 peptide cross-linking GO:0018149 9.13 FLG PI3 TGM1
9 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 hydrolase activity GO:0016787 9.72 CTRL CTSG ELANE GBA KLK7
2 peptidase activity GO:0008233 9.56 CTRL CTSG ELANE KLK7
3 serine-type endopeptidase activity GO:0004252 9.26 CTRL CTSG ELANE KLK7
4 structural constituent of epidermis GO:0030280 9.16 FLG PI3
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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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