ORPHA:223

Arginine vasopressin resistance

Synonyms: Nephrogenic diabetes insipidus

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Age of onset: Infancy, Neonatal
Status: active

A rare, genetic renal tubular disease that is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Arginine vasopressin resistance	Nephrogenic diabetes insipidus
fr	Résistance à la vasopressine	Diabète insipide néphrogénique
de	Arginin-Vasopressin-Resistenz
es	Resistencia a la arginina vasopresina
it	Resistenza all'arginina vasopressina	Diabete insipido nefrogenico
nl	Resistentie voor arginine-vasopressine
pt	Resistência a arginina vasopressina
pl	Moczówka prosta nefrogenna	Oporność na wazopresynę argininową
cs	Nefrogenní diabetes insipidus	= en
uk	Резистентність до аргініну вазопресину	Нефрогенний цукровий діабет
zh	肾性尿崩症
tr	Nefrojenik diyabet insipidus

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	125800	BTNT		validated
OMIM	304800	BTNT		validated
ICD-10	N25.1	E	specific	validated
ICD-11	GB90.4A	E	specific	validated
MONDO	0016383	E		validated
MeSH	D018500	E		validated
UMLS	C0162283	E		validated
GARD	7178	E		validated
MedDRA	10029147	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:183592Genetic renal tubular disease
rare genetic diseases
ORPHA:93603Rare renal tubular disease
rare renal diseases

No children.

Genes

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
AQP2	Disease-causing germline mutation(s) in	Assessed	HGNC:634	ENSG00000167580	107777	12q13.12	aquaporin 2	20301356[PMID]
AVPR2	Disease-causing germline mutation(s) in	Assessed	HGNC:897	ENSG00000126895	300538	Xq28	arginine vasopressin receptor 2	20301356[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 1 000 000	0.15 / 100 000	Europe	Value and class	Validated	[EXPERT]
Prevalence at birth	1-9 / 1 000 000	0.44 / 100 000	Specific population	Value and class	Validated	10820168[PMID]

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

21 annotations · validated 2016-07-25

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0009806	Nephrogenic diabetes insipidus	Diagnostic criterion
Very frequent (99-80%)
HP:0003228	Hypernatremia
HP:0004906	Hypernatremic dehydration
HP:0003158	Hyposthenuria
Frequent (79-30%)
HP:0002039	Anorexia
HP:0002019	Constipation
HP:0001508	Failure to thrive
HP:0001945	Fever
HP:0002017	Nausea and vomiting
HP:0001959	Polydipsia
Occasional (29-5%)
HP:0011968	Feeding difficulties
HP:0000009	Functional abnormality of the bladder
HP:0001510	Growth delay
HP:0000072	Hydroureter
HP:0011106	Hypovolemia
HP:0000083	Renal insufficiency
HP:0001250	Seizure
HP:0004322	Short stature
Very rare (<4-1%)
HP:0010677	Enuresis nocturna
HP:0001263	Global developmental delay
HP:0001561	Polyhydramnios

Run the differential on the 4 obligate / very frequent terms

Annotation source: 1356229[PMID]_8479491[PMID]_8479490[PMID]_7537863[PMID]_9649557[PMID]_9831428[PMID]_16461963[PMID]_25211589[PMID]_11853799[PMID]_12241956[PMID]_12050236[PMID]_11232028[PMID]_10770218[PMID]_9822112[PMID]_14397883[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/223
This record as JSON: /data/d/223.json