DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs: DIABETES INSIPIDUS, NEPHROGENIC, TYPE I
NDI
Number of Symptoms 24
OrphanetNr:
OMIM Id: 304800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked 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:0000021) Megacystis 7 / 7739
3
(HPO:0001250) Seizures 1245 / 7739
4
(HPO:0000737) Irritability 93 / 7739
5
(HPO:0001959) Polydipsia 43 / 7739
6
(HPO:0001249) Intellectual disability 1089 / 7739
7
(HPO:0000873) Diabetes insipidus 34 / 7739
8
(HPO:0011968) Feeding difficulties 240 / 7739
9
(HPO:0008872) Feeding difficulties in infancy 153 / 7739
10
(HPO:0002019) Constipation 194 / 7739
11
(HPO:0002013) Vomiting 191 / 7739
12
(HPO:0004322) Short stature 1232 / 7739
13
(HPO:0001508) Failure to thrive 454 / 7739
14
(HPO:0001955) Unexplained fevers 7 / 7739
15
(HPO:0003228) Hypernatremia 12 / 7739
16
(HPO:0001986) Hypertonic dehydration 4 / 7739
17
(OMIM) Decreased urine osmolality 1 / 7739
18
(OMIM) No increase in urinary cyclic AMP (cAMP) in response to vasopressin or dDAVP 1 / 7739
19
(OMIM) Lower urinary tract dilatation may occur over time 2 / 7739
20
(HPO:0003623) Neonatal onset 22 / 7739
21
(OMIM) Normal or increased levels of serum arginine vasopressin (antidiuretic hormone, 192340) 2 / 7739
22
(HPO:0001419) X-linked recessive inheritance 189 / 7739
23
(OMIM) Mental retardation can occur in patients with repeated episodes of dehydration 2 / 7739
24
(OMIM) Abnormal extrarenal response to dDAVP (no increase in von Willebrand factor or factor VIII) 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 vasopression (AVP; 192340). Approximately 90% of patients are males with the X-linked ...
Clinical Description OMIM In a Mormon family traced to 1813, Cannon (1955) reported 3 instances of male-to-male transmission of diabetes insipidus. However, he noted reduced penetrance in females, as carriers did not show the disorder. Thus was raised the suspicion that ...
Molecular genetics OMIM In 2 unrelated patients with X-linked NDI, Rosenthal et al. (1992) identified 2 different mutations in the AVPR2 gene (300538.0001; 300538.0002). One of the patients was a 37-year-old man with a lifelong history of polyuria, polydipsia, and mental ...
Population genetics OMIM Bode and Crawford (1969) and Bode and Miettinen (1970) proposed that patients with nephrogenic diabetes insipidus in eastern North America shared a common ancestor, an Ulster Scot who had arrived in Halifax in 1761 on the ship Hopewell. ...