Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:3266
Name:Diabetes Insipidus, Nephrogenic
Definition:A genetic or acquired polyuric disorder characterized by persistent hypotonic urine and HYPOKALEMIA. This condition is due to renal tubular insensitivity to VASOPRESSIN and failure to reduce urine volume. It may be the result of mutations of genes encoding VASOPRESSIN RECEPTORS or AQUAPORIN-2; KIDNEY DISEASES; adverse drug effects; or complications from PREGNANCY.
Alternative IDs:OMIM:125800|OMIM:304800
ParentIDs:MESH:D003919
TreeNumbers:C12.777.419.135.500 |C13.351.968.419.135.500
Synonyms:Acquired Nephrogenic Diabetes Insipidus |ADH-Resistant Diabetes Insipidus |Congenital Nephrogenic Diabetes Insipidus |Diabetes Insipidus, Nephrogenic, Autosomal |Diabetes Insipidus, Nephrogenic, Type 1 |Diabetes Insipidus, Nephrogenic, Type I |Diabetes Insipid
Slim Mappings:Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: D018500
MeSH: D018500
OMIM: 125800;

Genes: AQP2; AVPR2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0003623Neonatal onset
4 HP:0002019Constipation
5 HP:0001508Failure to thrive
6 HP:0008872Feeding difficulties in infancy
7 HP:0001425Heterogeneous
8 HP:0003228Hypernatremia
9 HP:0001986Hypertonic dehydration
10 HP:0001249Intellectual disability
11 HP:0000737Irritability
12 HP:0000021Megacystis
13 HP:0009806Nephrogenic diabetes insipidus
14 HP:0001959Polydipsia
15 HP:0000103Polyuria
16 HP:0001250Seizure
17 HP:0004322Short stature
18 HP:0001955Unexplained fevers
19 HP:0002013Vomiting
Disease Causing ClinVar Variants