Nephrogenic syndrome of inappropriate antidiuresis

General Information (adopted from Orphanet):

Synonyms, Signs: NSIAD
Number of Symptoms 15
OrphanetNr: 93606
OMIM Id: 300539
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic renal tubular disease
 -Rare genetic disease
Rare renal tubular disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0012605) Hypernatriuria 6 / 7739
2
(HPO:0000737) Irritability 93 / 7739
3
(HPO:0001250) Seizures 1245 / 7739
4
(HPO:0003351) Decreased circulating renin level 8 / 7739
5
(HPO:0004421) Elevated systolic blood pressure 2 / 7739
6
(HPO:0002902) Hyponatremia 37 / 7739
7
(OMIM) Undetectable serum arginine vasopressin, or antidiuretic hormone (ADH, AVP, 192340) 1 / 7739
8
(OMIM) Inappropriately increased urine osmolality 1 / 7739
9
(OMIM) Mildly decreased serum creatinine 1 / 7739
10
(HPO:0001419) X-linked recessive inheritance 189 / 7739
11
(OMIM) Systolic hypertension, mild 1 / 7739
12
(OMIM) Euvolemia 1 / 7739
13
(OMIM) Decreased serum BUN 1 / 7739
14
(OMIM) Normal aldosterone 1 / 7739
15
(OMIM) Decreased serum osmolality 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common cause of hyponatremia. The syndrome manifests as an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolality, and natriuresis. SIADH occurs ...
Clinical Description OMIM Feldman et al. (2005) described 2 unrelated male infants whose clinical presentations were consistent with the presence of chronic SIADH, but who had undetectable AVP levels. The first patient presented at age 3 months with irritability, and the ...
Molecular genetics OMIM In 2 unrelated patients with NSIAD, Feldman et al. (2005) identified 2 different mutations in the AVPR2 gene (R137C; 300538.0021 and R137L; 300538.0022). Feldman et al. (2005) concluded that the R137C and R137L mutations caused constitutive activation of ...