Hereditary central diabetes insipidus

General Information (adopted from Orphanet):

Synonyms, Signs: Hereditary CDI
Hereditary neurogenic diabetes insipidus
Number of Symptoms 8
OrphanetNr: 30925
OMIM Id: 125700
304900
ICD-10: E23.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Central diabetes insipidus
 -Rare endocrine disease
 -Rare genetic disease
Pituitary deficiency
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0011037) Decreased urine output Very frequent [Orphanet] 47 / 7739
2
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
3
 (HPO:0004372) Reduced consciousness/confusion Frequent [Orphanet] 73 / 7739
4
 (HPO:0000873) Diabetes insipidus Very frequent [Orphanet] 34 / 7739
5
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
6
 (HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
7
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
8
 (HPO:0001945) Fever Frequent [Orphanet] 218 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: