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Netherton syndrome

1 OMIM reference -
1 associated gene
28 signs/symptoms

PROTEIN INTERACTIONS: 1

Hereditary chronic pancreatitis

1 OMIM reference -
5 associated genes
No signs/symptoms info

Netherton syndrome

Hereditary chronic pancreatitis

SPINK5	(UniProt - OMIM)		CFTR	(UniProt - OMIM)
			CTRC	(UniProt - OMIM)
			PRSS1	(UniProt - OMIM)
			PRSS2	(UniProt - OMIM)
			SPINK1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Netherton syndrome		Hereditary chronic pancreatitis
	Synonym(s): - Bamboo hair syndrome - ComÃ¨l-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)