RENAL TUBULAR ACIDOSIS, DISTAL, RTA TYPE I; AUTOSOMAL RECESSIVE

Question 1

What is  RENAL TUBULAR ACIDOSIS, DISTAL,  RTA TYPE I; AUTOSOMAL RECESSIVE?

Accepted Answer

rare
autosomal recessive
mutation in the ATP6N1B gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Azidose, renale tubuläre, distale, autosomal-rezessive Form

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 602722

Question 4

Which enzymes are involved?

Accepted Answer

V-type proton ATPase 116 kDa subunit a isoform 4

Disease	RENAL TUBULAR ACIDOSIS, DISTAL, RTA TYPE I; AUTOSOMAL RECESSIVE
Synonym	RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PRESERVED HEARING
OMIM	602722 OMIM = Online Mendelian Inheritance of Men
Orphanet	402041
Protein (UniProt)	V-type proton ATPase 116 kDa subunit a isoform 4
Gene locus	7q34
ICD	N25.8
Summary	rare autosomal recessive mutation in the ATP6N1B gene
Laboratory findings	Bicarbonate dec (serum) Chloride inc (serum) pH dec (urine) Potassium dec (serum)
Symptoms	growth retardation, poor growth hearing defect, deafness hypokalemia metabolic acidosis onset, childhood onset, infancy