MCID: NTH001
MIFTS: 60

Netherton Syndrome

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

Aliases & Classifications for Netherton Syndrome

MalaCards integrated aliases for Netherton Syndrome:

Name: Netherton Syndrome 57 12 76 53 25 59 75 37 29 13 55 6 44 15 40
N Syndrome 57 12 53 59 29 13 15 40 73
Netherton Disease 57 53 25 75
Neth 57 53 25 75
Ns 57 25 59 75
Comel-Netherton Syndrome 57 25 75
Nsx 57 12 53
Erythroderma, Ichthyosiform, with Hypotrichosis and Hyper-Ige 57 75
Ichthyosis Linearis Circumflexa 25 73
Bamboo Hair Syndrome 25 59
Mental Retardation, Malformations, Chromosome Breakage, and Development of T-Cell Leukemia 53
Ichthyosiform Erythroderma with Hypotrichosis and Hyper-Ige 25
Comèl-Netherton Syndrome 59
Ilc 25
Nts 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive


HPO:

32
n syndrome:
Inheritance x-linked inheritance

netherton syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Netherton Syndrome

OMIM : 57 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 pustular psoriasis and congenital ichthyosiform erythroderma, 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 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 intellectual disability and seizures

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

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.

Wikipedia : 76 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 95)
# Related Disease Score Top Affiliating Genes
1 pustular psoriasis 30.7 ELANE PI3
2 congenital ichthyosiform erythroderma 30.4 FLG SPINK5 TGM1
3 ichthyosis 30.4 FLG SPINK5 TGM1
4 esophagitis, eosinophilic, 1 30.0 DSG1 FLG
5 ichthyosis vulgaris 30.0 FLG TGM1
6 dermatitis 29.9 DSG1 FLG KLK7 SPINK5
7 dermatitis, atopic 29.5 FLG KLK7 SPINK5 TGM3
8 ritter's disease 29.5 DSG1 EDNRA
9 skin disease 28.8 DSG1 FLG KLK7 PI3 SPINK5 TGM1
10 hypertension, essential 11.2
11 pancreatic cancer 11.1
12 gastroesophageal reflux 11.0
13 short bowel syndrome 11.0
14 dumping syndrome 11.0
15 neuroendocrine tumor 11.0
16 duodenogastric reflux 11.0
17 vipoma 11.0
18 schizophrenia 11.0
19 zollinger-ellison syndrome 11.0
20 pancreatoblastoma 11.0
21 5-nucleotidase syndrome 11.0
22 parkinson disease, late-onset 10.9
23 tobacco addiction 10.9
24 rhizomelic chondrodysplasia punctata, type 2 10.9
25 hypotrichosis 1 10.9
26 infant botulism 10.9
27 restless legs syndrome 10.9
28 oropouche fever 10.9
29 functional diarrhea 10.9
30 constipation 10.9
31 amphetamine abuse 10.9
32 postgastrectomy syndrome 10.9
33 carcinoid syndrome 10.9
34 pain agnosia 10.7
35 autonomic nervous system neoplasm 10.7
36 agnosia 10.7
37 irritant dermatitis 10.7 FLG PI3
38 ichthyosis, congenital, autosomal recessive 2 10.6 SPINK5 TGM1
39 pasteurellosis 10.6 ELANE PI3
40 farmer's lung 10.6 ELANE PI3
41 erysipelas 10.6 ELANE PI3
42 ichthyosis, congenital, autosomal recessive 4b 10.5 FLG TGM1
43 impetigo herpetiformis 10.5 ELANE PI3
44 filamentary keratitis 10.5 ELANE FLG
45 bronchopneumonia 10.5 ELANE PI3
46 ichthyosis, x-linked 10.4 FLG TGM1
47 balanitis 10.2 TGM1 TGM3
48 impetigo 10.2 DSG1 ELANE PI3
49 balanitis xerotica obliterans 10.2 TGM1 TGM3
50 keratoacanthoma 10.1 DSG1 FLG

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:

57
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 Gastrointestinal:
enteropathy with villous atrophy


Clinical features from OMIM:

256500 310465

Human phenotypes related to Netherton Syndrome:

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001249
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
4 global developmental delay 59 32 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001263
5 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
6 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
7 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
8 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
9 dehydration 59 32 occasional (7.5%) Occasional (29-5%) HP:0001944
10 aminoaciduria 59 32 occasional (7.5%) Occasional (29-5%) HP:0003355
11 emphysema 59 32 frequent (33%) Frequent (79-30%) HP:0002097
12 acanthosis nigricans 59 32 hallmark (90%) Very frequent (99-80%) HP:0000956
13 ectopic kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000086
14 megalocornea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000485
15 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
16 dry skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000958
17 decreased antibody level in blood 59 32 frequent (33%) Frequent (79-30%) HP:0004313
18 hypospadias 59 32 hallmark (90%) Very frequent (99-80%) HP:0000047
19 irregular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007400
20 asthma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002099
21 recurrent infections 59 32 Occasional (29-5%) HP:0002719
22 sparse scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002209
23 fine hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002213
24 skin rash 59 32 occasional (7.5%) Occasional (29-5%) HP:0000988
25 eczema 59 32 hallmark (90%) Very frequent (99-80%) HP:0000964
26 urticaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001025
27 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
28 erythroderma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001019
29 trichorrhexis nodosa 59 32 hallmark (90%) Very frequent (99-80%) HP:0009886
30 sparse eyelashes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000653
31 increased ige level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003212
32 congenital nonbullous ichthyosiform erythroderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0007479
33 bilateral sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0008619
34 t-cell lymphoma/leukemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005517
35 failure to thrive 32 HP:0001508
36 hearing impairment 32 HP:0000365
37 ichthyosis 59 Very frequent (99-80%)
38 neoplasm 32 HP:0002664
39 abnormality of the eyelid 59 Very frequent (99-80%)
40 abnormality of chromosome stability 32 HP:0003220
41 abnormality of the musculature 32 HP:0003011
42 abnormality of the hair 59 Very frequent (99-80%)
43 immunologic hypersensitivity 59 Very frequent (99-80%)
44 sparse eyebrow 59 Occasional (29-5%)
45 angioedema 32 HP:0100665
46 allergic rhinitis 32 HP:0003193
47 brittle hair 32 HP:0002299
48 leukemia 32 HP:0001909
49 villous atrophy 32 HP:0011473
50 abnormality of the globe 59 Very frequent (99-80%)

UMLS symptoms related to Netherton Syndrome:


trichorrhexis invaginata

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

26 (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

MGI Mouse Phenotypes related to Netherton Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.1 EDNRA GBA SPINK5 TGM1 TGM3 DSG1

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 6447131 17753757
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 Not Applicable
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 29 SPINK5
2 N Syndrome 29 POLA1

Anatomical Context for Netherton Syndrome

MalaCards organs/tissues related to Netherton Syndrome:

41
Skin, T Cells, Kidney, Eye, Testes, Colon, Thymus

Publications for Netherton Syndrome

Articles related to Netherton Syndrome:

(show top 50) (show all 156)
# Title Authors Year
1
Image Gallery: Brimonidine gel for facial erythema in Netherton syndrome. ( 29668104 )
2018
2
Desquamating Rash in a Patient with Undiagnosed Netherton Syndrome. ( 29106927 )
2018
3
Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy. ( 29781262 )
2018
4
Pregnancy in a patient with Netherton syndrome. ( 29218716 )
2018
5
An 8-Year-Old Child with Delayed Diagnosis of Netherton Syndrome. ( 29527381 )
2018
6
Infliximab therapy for Netherton syndrome: A case report. ( 29159247 )
2017
7
KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype. ( 28095415 )
2017
8
Phage Therapy in a 16-Year-Old Boy with Netherton Syndrome. ( 28717637 )
2017
9
Considerations in surgical management of a Buschke-Lowenstein tumor in Netherton syndrome: A case report. ( 29144034 )
2017
10
Netherton syndrome in association with vitamin D deficiency. ( 28686763 )
2017
11
A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course. ( 28832989 )
2017
12
A case of Netherton syndrome with mutation in SPINK5 and FLG. ( 28943498 )
2017
13
A viable mouse model for Netherton syndrome based on mosaic inactivation of the Spink5 gene. ( 27543783 )
2016
14
The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition. ( 27190931 )
2016
15
Eosinophilic esophagitis and colonic mucosal eosinophilia in Netherton syndrome. ( 28025013 )
2016
16
A compound synonymous mutation c.474G&amp;gt;A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome. ( 26997095 )
2016
17
Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings. ( 26825155 )
2016
18
Netherton Syndrome: A Genotype-Phenotype Review. ( 27905021 )
2016
19
Treatment of ichthyosis and hypernatremia in a patient with Netherton syndrome with a SPINK5 c.153delT mutation using kallikrein inhibiting ointment. ( 26889743 )
2016
20
Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation. ( 26865388 )
2016
21
Diagnostic criteria of Netherton syndrome using noninvasive reflectance confocal microscopy. ( 27119479 )
2016
22
A case of netherton syndrome: successful treatment with omalizumab and pulse prednisolone and its effects on cytokines and immunoglobulin levels. ( 26592187 )
2016
23
Mechanistic insight from murine models of Netherton syndrome. ( 27710911 )
2016
24
Netherton Syndrome Mimicking Pustular Psoriasis: Clinical Implications and Response to Intravenous Immunoglobulin. ( 27086664 )
2016
25
Airborne transmission from a neonate with Netherton syndrome during an outbreak of MRSA. ( 26900026 )
2016
26
Exocrine pancreatic insufficiency in a child with Netherton syndrome. ( 26986028 )
2016
27
Rare case of Netherton syndrome with generalized lentigines. ( 27988933 )
2016
28
Is c.1431-12G&amp;gt;A A common European mutation of SPINK5? report of a patient with Netherton Syndrome. ( 28289593 )
2016
29
KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome. ( 26390218 )
2015
30
Penile cancer in a man with netherton syndrome. ( 25817126 )
2015
31
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome. ( 25710899 )
2015
32
Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT. ( 26365906 )
2015
33
Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome. ( 25672309 )
2015
34
Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work review. ( 25917539 )
2015
35
Recurrent pustular eruption masquerading as pustular psoriasis in Netherton syndrome. ( 25440527 )
2015
36
Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism. ( 26229701 )
2015
37
New mutation leading to the full variety of typical features of the Netherton syndrome. ( 26031502 )
2015
38
Corrigendum to &amp;quot;Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism&amp;quot;. ( 26550512 )
2015
39
Rapid and easy diagnosis of Netherton syndrome with dermoscopy. ( 25008447 )
2014
40
IgE allergen component-based profiling and atopic manifestations in patients with Netherton syndrome. ( 25159469 )
2014
41
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
42
Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome. ( 24506793 )
2014
43
Netherton syndrome associated with growth hormone deficiency. ( 24015757 )
2014
44
Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks of Netherton syndrome. ( 24534191 )
2014
45
Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum. ( 25526335 )
2014
46
Netherton syndrome: defective kallikrein inhibition in the skin leads to skin inflammation and allergy. ( 25153381 )
2014
47
Molecular analysis of a series of Israeli families with ComA"l-Netherton syndrome. ( 24577329 )
2014
48
Netherton syndrome: skin inflammation and allergy by loss of protease inhibition. ( 23344365 )
2013
49
Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5. ( 23331056 )
2013
50
Netherton syndrome, a case report and review of literature. ( 24800031 )
2013

Variations for Netherton Syndrome

ClinVar genetic disease variations for Netherton Syndrome:

6
(show top 50) (show all 174)
# 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.2368C> T (p.Arg790Ter) single nucleotide variant Pathogenic rs121908387 GRCh38 Chromosome 5, 148120063: 148120063
3 SPINK5 NM_006846.3(SPINK5): c.283-2A> T single nucleotide variant Pathogenic rs587777749 GRCh38 Chromosome 5, 148086403: 148086403
4 SPINK5 NM_006846.3(SPINK5): c.283-2A> T single nucleotide variant Pathogenic rs587777749 GRCh37 Chromosome 5, 147465966: 147465966
5 SPINK5 NM_006846.3(SPINK5): c.2468dupA (p.Lys824Glufs) duplication Pathogenic rs587777750 GRCh38 Chromosome 5, 148120321: 148120321
6 SPINK5 NM_006846.3(SPINK5): c.2468dupA (p.Lys824Glufs) duplication Pathogenic rs587777750 GRCh37 Chromosome 5, 147499884: 147499884
7 SPINK5 NM_006846.3(SPINK5): c.1659C> T (p.Val553=) single nucleotide variant Benign rs2303071 GRCh37 Chromosome 5, 147488367: 147488367
8 SPINK5 NM_006846.3(SPINK5): c.1659C> T (p.Val553=) single nucleotide variant Benign rs2303071 GRCh38 Chromosome 5, 148108804: 148108804
9 SPINK5 NM_001127698.1(SPINK5): c.2812_2813delGT (p.Val938Cysfs) deletion Uncertain significance rs797045108 GRCh38 Chromosome 5, 148125596: 148125597
10 SPINK5 NM_001127698.1(SPINK5): c.2812_2813delGT (p.Val938Cysfs) deletion Uncertain significance rs797045108 GRCh37 Chromosome 5, 147505159: 147505160
11 SPINK5 NM_006846.3(SPINK5): c.209+15C> T single nucleotide variant Likely benign rs3752677 GRCh38 Chromosome 5, 148070465: 148070465
12 SPINK5 NM_006846.3(SPINK5): c.209+15C> T single nucleotide variant Likely benign rs3752677 GRCh37 Chromosome 5, 147450028: 147450028
13 SPINK5 NM_006846.3(SPINK5): c.1011-12C> T single nucleotide variant Benign rs1422991 GRCh38 Chromosome 5, 148099222: 148099222
14 SPINK5 NM_006846.3(SPINK5): c.1011-12C> T single nucleotide variant Benign rs1422991 GRCh37 Chromosome 5, 147478785: 147478785
15 SPINK5 NM_006846.3(SPINK5): c.1093-10A> G single nucleotide variant Benign rs2303062 GRCh38 Chromosome 5, 148100444: 148100444
16 SPINK5 NM_006846.3(SPINK5): c.1093-10A> G single nucleotide variant Benign rs2303062 GRCh37 Chromosome 5, 147480007: 147480007
17 SPINK5 NM_006846.3(SPINK5): c.1103G> A (p.Ser368Asn) single nucleotide variant Benign rs2303063 GRCh37 Chromosome 5, 147480027: 147480027
18 SPINK5 NM_006846.3(SPINK5): c.1103G> A (p.Ser368Asn) single nucleotide variant Benign rs2303063 GRCh38 Chromosome 5, 148100464: 148100464
19 SPINK5 NM_006846.3(SPINK5): c.1344G> A (p.Arg448=) single nucleotide variant Benign/Likely benign rs17107741 GRCh38 Chromosome 5, 148101822: 148101822
20 SPINK5 NM_006846.3(SPINK5): c.1344G> A (p.Arg448=) single nucleotide variant Benign/Likely benign rs17107741 GRCh37 Chromosome 5, 147481385: 147481385
21 SPINK5 NM_006846.3(SPINK5): c.1389A> G (p.Gly463=) single nucleotide variant Benign rs6896303 GRCh38 Chromosome 5, 148101867: 148101867
22 SPINK5 NM_006846.3(SPINK5): c.1389A> G (p.Gly463=) single nucleotide variant Benign rs6896303 GRCh37 Chromosome 5, 147481430: 147481430
23 SPINK5 NM_006846.3(SPINK5): c.1557C> A (p.Gly519=) single nucleotide variant Benign rs880687 GRCh38 Chromosome 5, 148107114: 148107114
24 SPINK5 NM_006846.3(SPINK5): c.1557C> A (p.Gly519=) single nucleotide variant Benign rs880687 GRCh37 Chromosome 5, 147486677: 147486677
25 SPINK5 NM_006846.3(SPINK5): c.2132G> A (p.Arg711Gln) single nucleotide variant Benign rs3777134 GRCh38 Chromosome 5, 148118456: 148118456
26 SPINK5 NM_006846.3(SPINK5): c.2132G> A (p.Arg711Gln) single nucleotide variant Benign rs3777134 GRCh37 Chromosome 5, 147498019: 147498019
27 SPINK5 NM_006846.3(SPINK5): c.2358C> T (p.Leu786=) single nucleotide variant Benign rs17704908 GRCh38 Chromosome 5, 148120053: 148120053
28 SPINK5 NM_006846.3(SPINK5): c.2358C> T (p.Leu786=) single nucleotide variant Benign rs17704908 GRCh37 Chromosome 5, 147499616: 147499616
29 SPINK5 NM_006846.3(SPINK5): c.2412C> T (p.Gly804=) single nucleotide variant Benign rs33920397 GRCh38 Chromosome 5, 148120107: 148120107
30 SPINK5 NM_006846.3(SPINK5): c.2412C> T (p.Gly804=) single nucleotide variant Benign rs33920397 GRCh37 Chromosome 5, 147499670: 147499670
31 SPINK5 NM_006846.3(SPINK5): c.2661C> G (p.Ser887Arg) single nucleotide variant Benign/Likely benign rs28408445 GRCh38 Chromosome 5, 148123955: 148123955
32 SPINK5 NM_006846.3(SPINK5): c.2661C> G (p.Ser887Arg) single nucleotide variant Benign/Likely benign rs28408445 GRCh37 Chromosome 5, 147503518: 147503518
33 SPINK5 NM_006846.3(SPINK5): c.2667-4G> A single nucleotide variant Benign/Likely benign rs180955184 GRCh38 Chromosome 5, 148124761: 148124761
34 SPINK5 NM_006846.3(SPINK5): c.2667-4G> A single nucleotide variant Benign/Likely benign rs180955184 GRCh37 Chromosome 5, 147504324: 147504324
35 SPINK5 NM_006846.3(SPINK5): c.2965-10G> C single nucleotide variant Benign/Likely benign rs58888156 GRCh37 Chromosome 5, 147510812: 147510812
36 SPINK5 NM_006846.3(SPINK5): c.2965-10G> C single nucleotide variant Benign/Likely benign rs58888156 GRCh38 Chromosome 5, 148131249: 148131249
37 SPINK5 NM_006846.3(SPINK5): c.3009T> C (p.Gly1003=) single nucleotide variant Benign rs2400478 GRCh37 Chromosome 5, 147510866: 147510866
38 SPINK5 NM_006846.3(SPINK5): c.3009T> C (p.Gly1003=) single nucleotide variant Benign rs2400478 GRCh38 Chromosome 5, 148131303: 148131303
39 SPINK5 NM_006846.3(SPINK5): c.-10C> T single nucleotide variant Uncertain significance rs778902700 GRCh37 Chromosome 5, 147443598: 147443598
40 SPINK5 NM_006846.3(SPINK5): c.-10C> T single nucleotide variant Uncertain significance rs778902700 GRCh38 Chromosome 5, 148064035: 148064035
41 SPINK5 NM_006846.3(SPINK5): c.119G> C (p.Gly40Ala) single nucleotide variant Benign/Likely benign rs73269156 GRCh37 Chromosome 5, 147449923: 147449923
42 SPINK5 NM_006846.3(SPINK5): c.119G> C (p.Gly40Ala) single nucleotide variant Benign/Likely benign rs73269156 GRCh38 Chromosome 5, 148070360: 148070360
43 SPINK5 NM_006846.3(SPINK5): c.1128C> T (p.Asn376=) single nucleotide variant Conflicting interpretations of pathogenicity rs78128189 GRCh37 Chromosome 5, 147480052: 147480052
44 SPINK5 NM_006846.3(SPINK5): c.1128C> T (p.Asn376=) single nucleotide variant Conflicting interpretations of pathogenicity rs78128189 GRCh38 Chromosome 5, 148100489: 148100489
45 SPINK5 NM_006846.3(SPINK5): c.1431-10T> G single nucleotide variant Uncertain significance rs759079847 GRCh37 Chromosome 5, 147484505: 147484505
46 SPINK5 NM_006846.3(SPINK5): c.1431-10T> G single nucleotide variant Uncertain significance rs759079847 GRCh38 Chromosome 5, 148104942: 148104942
47 SPINK5 NM_006846.3(SPINK5): c.1820+11G> A single nucleotide variant Uncertain significance rs796478719 GRCh38 Chromosome 5, 148111906: 148111906
48 SPINK5 NM_006846.3(SPINK5): c.1820+11G> A single nucleotide variant Uncertain significance rs796478719 GRCh37 Chromosome 5, 147491469: 147491469
49 SPINK5 NM_006846.3(SPINK5): c.2762A> G (p.Asn921Ser) single nucleotide variant Benign/Likely benign rs73271166 GRCh37 Chromosome 5, 147505308: 147505308
50 SPINK5 NM_006846.3(SPINK5): c.2762A> G (p.Asn921Ser) single nucleotide variant Benign/Likely benign rs73271166 GRCh38 Chromosome 5, 148125745: 148125745

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 GRCh38 Location Conf
1 COSM584 NRAS skin,scalp,benign melanocytic nevus,congenital c.182A>G p.Q61R 1:114713908-114713908 5
2 COSM580 NRAS skin,scalp,benign melanocytic nevus,congenital c.181C>A p.Q61K 1:114713909-114713909 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
11.49 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 secretory granule GO:0030141 9.43 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:

(show all 11)
# 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 protein catabolic process GO:0030163 9.49 CTRL ELANE
5 defense response to fungus GO:0050832 9.46 CTSG ELANE
6 negative regulation of growth of symbiont in host GO:0044130 9.43 CTSG ELANE
7 antimicrobial humoral response GO:0019730 9.43 CTSG ELANE PI3
8 positive regulation of immune response GO:0050778 9.4 CTSG ELANE
9 peptide cross-linking GO:0018149 9.26 FLG PI3 TGM1 TGM3
10 cell envelope organization GO:0043163 9.16 TGM1 TGM3
11 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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