ORPHA:402041

Autosomal recessive distal renal tubular acidosis

Synonyms: AR dRTA · Autosomal recessive distal RTA

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: Autosomal recessive
Age of onset: Childhood, Infancy
Status: active

A rare autosomal recessive form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal recessive distal renal tubular acidosis	AR dRTA · Autosomal recessive distal RTA
fr	Acidose tubulaire rénale distale autosomique récessive	AR dRTA · ATR distale autosomique récessive · ATRd AR
de	Azidose, renale tubuläre, distale, autosomal-rezessive Form	AR dRTA · Distale RTA, autosomal-rezessiv
es	Acidosis tubular renal distal autosómica recesiva	AR dRTA · ATR distal autosómica recesiva
it	Acidosi tubulare renale distale autosomica recessiva	RTA distale autosomica recessiva · dRTA AR
nl	Autosomaal recessieve distale renale tubulaire acidose	AR dRTA · Autosomaal recessieve distale RTA
pt	Acidose tubular renal autossómica recessiva	AR dRTA · RTA autossómica recessiva
pl	Autosomalna recesywna kwasica dystalnych kanalików nerkowych	AR dRTA · Autosomalna recesywna dystalna RTA
cs	Autozomálně recesivní distální renální tubulární acidóza	AR dRTA · Autozomálně recesivní distální RTA
uk	Аутосомно-рецесивний дистальний нирковий тубулярний ацидоз	AR dRTA · Аутосомно-рецесивна дистальна РТА
zh	常染色体隐性遗传性远端肾小管酸中毒	常染色体隐性遗传性远端RTA
tr	Otozomal resesif distal renal tübüler asidoz	AR dRTA · Otozomal çekinik distal RTA

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	267300	BTNT		validated
OMIM	602722	BTNT		validated
ICD-10	N25.8	NTBT	attributed	validated
MONDO	0018440	E		validated
MeSH	C537758	E		validated
UMLS	C1864498	E		validated
GARD	4666	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93626Rare renal disease

Parents in the classifications (2):

ORPHA:18Distal renal tubular acidosis
rare genetic diseases; rare renal diseases; rare transplant-related disorders
ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases

No children.

Codes that Orphanet moved or referred to this one:

ORPHA:93609Autosomal recessive distal renal tubular acidosis without deafness moved to · inactive
ORPHA:93611Autosomal recessive distal renal tubular acidosis with deafness moved to · inactive

Genes

4 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ATP6V0A4	Disease-causing germline mutation(s) in	Assessed	HGNC:866	ENSG00000105929	605239	7q34	ATPase H+ transporting V0 subunit a4	23729491[PMID]
ATP6V1B1	Disease-causing germline mutation(s) in	Assessed	HGNC:853	ENSG00000116039	192132	2p13.3	ATPase H+ transporting V1 subunit B1	23729491[PMID]
FOXI1	Disease-causing germline mutation(s) in	Assessed	HGNC:3815	ENSG00000168269	601093	5q35.1	forkhead box I1	29242249[PMID]
WDR72	Disease-causing germline mutation(s) in	Assessed	HGNC:26790	ENSG00000166415	613214	15q21.3	WD repeat domain 72	30028003[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Validated	[EXPERT]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/402041
This record as JSON: /data/d/402041.json