DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL

General Information (adopted from Orphanet):

Synonyms, Signs: DIABETES INSIPIDUS, NEPHROGENIC, TYPE II
Number of Symptoms 19
OrphanetNr:
OMIM Id: 125800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset: Neonatal onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000103) Polyuria 60 / 7739
2
(HPO:0001250) Seizures 1245 / 7739
3
(HPO:0001959) Polydipsia 43 / 7739
4
(HPO:0000737) Irritability 93 / 7739
5
(HPO:0011968) Feeding difficulties 240 / 7739
6
(HPO:0002013) Vomiting 191 / 7739
7
(HPO:0002019) Constipation 194 / 7739
8
(HPO:0004322) Short stature 1232 / 7739
9
(HPO:0001508) Failure to thrive 454 / 7739
10
(HPO:0001986) Hypertonic dehydration 4 / 7739
11
(HPO:0001955) Unexplained fevers 7 / 7739
12
(HPO:0003228) Hypernatremia 12 / 7739
13
(OMIM) High serum osmolality 1 / 7739
14
(OMIM) Normal or increased levels of serum arginine vasopressin (antidiuretic hormone, 192340) 2 / 7739
15
(OMIM) Normal extrarenal responses to dDAVP administration 1 / 7739
16
(OMIM) Mental retardation can occur in patients with repeated episodes of dehydration 2 / 7739
17
(OMIM) Lower urinary tract dilatation may occur over time 2 / 7739
18
(OMIM) Increased urinary cyclic AMP (cAMP) in response to dDAVP administration 1 / 7739
19
(OMIM) Inappropriately low urine osmolality 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Nephrogenic diabetes insipidus is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP; 192340). Approximately 90% of patients are males with the X-linked ...
Clinical Description OMIM Van Lieburg et al. (1994) reported 3 unrelated patients with NDI. All were born of consanguineous parents, indicating autosomal recessive inheritance. Onset in all patients was within the first weeks of life, with hypernatremia and severe dehydration. Urine ...
Molecular genetics OMIM In a male patient with nephrogenic diabetes insipidus originally reported by Knoers and Monnens (1991), Deen et al. (1994) identified compound heterozygosity for 2 mutations in the AQP2 gene (107777.0001; 107777.0002). Missense mutations and a single-nucleotide deletion in ...