Central diabetes insipidus
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CDI Neurogenic diabetes insipidus |
| Number of Symptoms | 23 |
| OrphanetNr: | 178029 |
| OMIM Id: |
125700
304900 |
| ICD-10: |
E23.2 |
| UMLs: |
C0687720 |
| MeSH: |
D020790 |
| MedDRA: |
10068587 |
| Snomed: |
45369008 |
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: |
Pituitary deficiency
-Rare endocrine disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0011037) | Decreased urine output | Very frequent [Orphanet] | 47 / 7739 | |||
|
|
(HPO:0000445) | Wide nose | 190 / 7739 | ||||
|
|
(HPO:0000316) | Hypertelorism | 644 / 7739 | ||||
|
|
(HPO:0000343) | Long philtrum | 262 / 7739 | ||||
|
|
(HPO:0003196) | Short nose | 264 / 7739 | ||||
|
|
(HPO:0002360) | Sleep disturbance | Frequent [Orphanet] | 113 / 7739 | |||
|
|
(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
|
|
(HPO:0004372) | Reduced consciousness/confusion | Frequent [Orphanet] | 73 / 7739 | |||
|
|
(HPO:0100851) | Abnormal emotion/affect behavior | Frequent [Orphanet] | 85 / 7739 | |||
|
|
(HPO:0002315) | Headache | Frequent [Orphanet] | 175 / 7739 | |||
|
|
(HPO:0000863) | Central diabetes insipidus | 7 / 7739 | ||||
|
|
(HPO:0000873) | Diabetes insipidus | Very frequent [Orphanet] | 34 / 7739 | |||
|
|
(HPO:0000938) | Osteopenia | 138 / 7739 | ||||
|
|
(HPO:0002017) | Nausea and vomiting | Occasional [Orphanet] | 134 / 7739 | |||
|
|
(HPO:0002014) | Diarrhea | Occasional [Orphanet] | 225 / 7739 | |||
|
|
(HPO:0004325) | Decreased body weight | Frequent [Orphanet] | 492 / 7739 | |||
|
|
(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
|
|
(HPO:0001944) | Dehydration | Very frequent [Orphanet] | 59 / 7739 | |||
|
|
(HPO:0003228) | Hypernatremia | Occasional [Orphanet] | 12 / 7739 | |||
|
|
(HPO:0002902) | Hyponatremia | Occasional [Orphanet] | 37 / 7739 | |||
|
|
(HPO:0001945) | Fever | Frequent [Orphanet] | 218 / 7739 | |||
|
|
(HPO:0002171) | Gliosis | 48 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|