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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Dubin-Johnson syndrome

SLC34A1 ABCC2
SLC9A3R1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SLC9A3R1
(0.75)
ABCC2



Citations in the biomedical literature:


Dominant hypophosphatemia with nephrolithiasis or osteoporosis
SLC34A1 SLC9A3R1
Dubin-Johnson syndrome
ABCC2



Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Dubin-Johnson syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Dubin-Sprinz disease
- Hyperbilirubinemia type 2
- Sprinz-Nelson syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D007566

Dubin-Johnson syndrome

Very frequent
- Abnormal colour of the urine / cholic / dark urines
- Autosomal recessive inheritance
- Hepatitis / icterus / cholestasis
- Structural anomalies of the liver and the biliary tract

Frequent
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis

Occasional
- Acute abdominal pain / colic
- Asthenia / fatigue / weakness
- Clotting / hemostasis disorders
- Fever / chilling
- Hepatomegaly / liver enlargement (excluding storage disease)


Dominant hypophosphatemia with nephrolithiasis or osteoporosis

(no data available)