ODCs

Click node...

1 OMIM reference -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Cystic fibrosis

Autosomal recessive distal renal tubular acidosis with deafness


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	STX1A	(0.75)	ATP6V1B1

Citations in the biomedical literature:

Cystic fibrosis		Autosomal recessive distal renal tubular acidosis with deafness
	Synonym(s): - CF - Mucoviscidosis		Synonym(s): - AR dRTA with hearing loss - AR dRTA wth deafness - Autosomal recessive distal renal tubular acidosis with hearing loss - Renal tubular acidosis type 1b

	Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare infertility - Rare respiratory disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease - Rare renal disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the genitourinary system -

	Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: neonatal/infancy Average age of death: young adult Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D003550		External references: 1 OMIM reference - No MeSH references

Cystic fibrosis
	Very frequent - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Autosomal recessive inheritance - Immunodeficiency / increased susceptibility to infections / recurrent infections - Lung fibrosis - Malabsorption / chronic diarrhea / steatorrhea - Repeat respiratory infections - Structural anomalies of the liver and the biliary tract - Structural anomalies of the pancreas Occasional - Hepatomegaly / liver enlargement (excluding storage disease)
Autosomal recessive distal renal tubular acidosis with deafness
(no data available)