Netherton syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: NETHERTON DISEASE
NETH
NS
ERYTHRODERMA, ICHTHYOSIFORM, WITH HYPOTRICHOSIS AND HYPER-IgE
Bamboo hair syndrome
Comèl-Netherton syndrome
Number of Symptoms 46
OrphanetNr: 634
OMIM Id: 256500
ICD-10: L67.0
Q80.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.5 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal ichthyosis syndrome with prominent hair abnormalities
 -Rare genetic disease
 -Rare skin disease
Eyebrow/eyelashes structural anomaly
 -Rare eye disease
 -Rare genetic disease
Ichthyosis associated with ocular features
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
2
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
3
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Occasional [Orphanet] 117 / 7739
4
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
5
 (HPO:0002209) Sparse scalp hair 59 / 7739
6
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0011473) Villous atrophy 14 / 7739
9
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
10
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
11
 (HPO:0001508) Failure to thrive 454 / 7739
12
 (HPO:0007479) Congenital nonbullous ichthyosiform erythroderma 13 / 7739
13
 (HPO:0001595) Abnormality of the hair Very frequent [Orphanet] 89 / 7739
14
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
15
 (HPO:0001025) Urticaria Very frequent [Orphanet] 73 / 7739
16
 (HPO:0010783) Erythema Occasional [Orphanet] 138 / 7739
17
 (HPO:0000964) Eczema Very frequent [Orphanet] 81 / 7739
18
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
19
 (HPO:0002299) Brittle hair Very frequent [Orphanet] 52 / 7739
20
 (HPO:0001019) Erythroderma 24 / 7739
21
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
22
 (HPO:0100665) Angioedema 14 / 7739
23
 (HPO:0000958) Dry skin Occasional [Orphanet] 152 / 7739
24
 (HPO:0000988) Skin rash Occasional [Orphanet] 98 / 7739
25
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
26
 (HPO:0000956) Acanthosis nigricans Very frequent [Orphanet] 54 / 7739
27
 (HPO:0001880) Eosinophilia 35 / 7739
28
 (HPO:0003212) Increased IgE level 13 / 7739
29
 (HPO:0010701) Abnormal immunoglobulin level Frequent [Orphanet] 49 / 7739
30
 (HPO:0004906) Hypernatremic dehydration 2 / 7739
31
 (HPO:0004337) Abnormality of amino acid metabolism Occasional [Orphanet] 45 / 7739
32
 (HPO:0001944) Dehydration Occasional [Orphanet] 59 / 7739
33
 (HPO:0002099) Asthma Very frequent [Orphanet] 62 / 7739
34
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
35
 (HPO:0002097) Emphysema Frequent [Orphanet] 40 / 7739
36
 (HPO:0100326) Immunologic hypersensitivity Very frequent [Orphanet] 28 / 7739
37
 (HPO:0010978) Abnormality of immune system physiology Occasional [Orphanet] 148 / 7739
38
 (HPO:0002719) Recurrent infections 107 / 7739
39
 (HPO:0003011) Abnormality of the musculature 47 / 7739
40
 (OMIM) Sparse, brittle scalp hair 1 / 7739
41
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
42
 (OMIM) Ichthyosis linearis circumflexa 1 / 7739
43
 (MedDRA:10016946) Food allergy 3 / 7739
44
 (OMIM) Enteropathy with villous atrophy 1 / 7739
45
 (OMIM) Hay fever 2 / 7739
46
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The features of this disorder, which was first reported by Netherton (1958), are 'bamboo hair' (trichorrhexis nodosa, or, because of the nodes, invaginata), congenital ichthyosiform erythroderma, and atopic diathesis. It has been observed almost only in females. The ...
Genotype-Phenotype Correlations OMIM Bitoun et al. (2001) studied 21 families of different geographic origin and identified 18 mutations, of which 13 were novel and 7 (39%) were recurrent. Five mutations, 1 of which resulted in perinatal lethal disease in 3 families, ...
Molecular genetics OMIM Chavanas et al. (2000) detected 11 different mutations in 13 families in the SPINK5 gene, at least 9 of which generated premature termination codons of translation and predicted mRNA instability.