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NSX
MCID: NTH001
MIFTS: 59
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Netherton Syndrome (NSX)
Categories:
Blood diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Netherton Syndrome:
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:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Ear diseases Skin diseases Blood diseases
ICD10:
35
Orphanet: 60
Rare neurological diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare immunological diseases
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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... |
Human phenotypes related to Netherton Syndrome:60 33 (show top 50) (show all 56)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:256500 310465UMLS symptoms related to Netherton Syndrome:trichorrhexis invaginata GenomeRNAi Phenotypes related to Netherton Syndrome according to GeneCards Suite gene sharing:27 (show all 17)
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Drugs for Netherton Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 16)
Interventional clinical trials:
Cochrane evidence based reviews: netherton syndrome |
MalaCards organs/tissues related to Netherton Syndrome:42
Skin,
T Cells,
Heart,
Prostate,
Kidney,
Liver,
Thyroid
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Articles related to Netherton Syndrome:(show top 50) (show all 171)
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Genes related to Netherton Syndrome (1 elite genes):(show all 11) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Netherton Syndrome:6 (show top 50) (show all 234)
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Search
GEO
for disease gene expression data for Netherton Syndrome.
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Cellular components related to Netherton Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Netherton Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Netherton Syndrome according to GeneCards Suite gene sharing:
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