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Autosomal dominant distal renal tubular acidosis
1 OMIM reference -
1 associated gene
25 connected diseases
No signs/symptoms info
Disease Type of connection
Hereditary spherocytosis
Distal renal tubular acidosis with anemia
Southeast Asian ovalocytosis
Osteopetrosis with renal tubular acidosis
8p11.2 deletion syndrome
Retinitis pigmentosa
Familial melanoma
Familial pancreatic carcinoma
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Atrial septal defect, ostium secundum type
Familial isolated dilated cardiomyopathy
Left ventricular noncompaction
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Autosomal dominant methemoglobinemia
Hb Bart's hydrops fetalis
Hemoglobin H disease
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Metachondromatosis
Noonan syndrome
Overhydrated hereditary stomatocytosis
Rh deficiency syndrome
Synonym(s):
- AD dRTA
- Renal tubular acidosis type 1a
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the genitourinary system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SLC4A1 P02730109270
No signs/symptoms info available.