Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
28 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
5 associated genes
No signs/symptoms info
Netherton syndrome
Hereditary chronic pancreatitis

SPINK5 CFTR
CTRC
PRSS1
PRSS2
SPINK1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SPINK5
(0.52)
PRSS1



Citations in the biomedical literature:


Netherton syndrome
SPINK5
Hereditary chronic pancreatitis
CFTR CTRC PRSS1 PRSS2 SPINK1



Netherton syndrome
Hereditary chronic pancreatitis

Synonym(s):
- Bamboo hair syndrome
- Comèl-Netherton syndrome
- NS

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare endocrine disease
- Rare gastroenterologic disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the digestive system -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Netherton syndrome

Very frequent
- Acanthosis nigricans
- Asthma / bronchospasm
- Autosomal recessive inheritance
- Brittle hair / distrix / trichorrhexis
- Eczema
- Fine hair
- Hair and scalp anomalies
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Ichthyosis / ichthyosiform dermatitis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular / in bands / reticular skin hyperpigmentation
- Malabsorption / chronic diarrhea / steatorrhea
- Severe allergic reaction / atopy
- Urticaria

Frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Emphysema
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Absent / decreased / thin eyebrows
- Aminoacid metabolism anomalies / aminoaciduria
- Cutaneous rash
- Dehydration / hydroelectrolytic loss
- Dry / squaly skin / exfoliation
- Ectopic / horseshoe / fused kidneys
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Short stature / dwarfism / nanism


Hereditary chronic pancreatitis

(no data available)