DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

General Information (adopted from Orphanet):

Synonyms, Signs: DIABETES INSIPIDUS, PRIMARY CENTRAL
DIABETES INSIPIDUS, CRANIAL TYPE
CDI
Number of Symptoms 9
OrphanetNr:
OMIM Id: 125700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000343) Long philtrum 262 / 7739
2
(HPO:0000316) Hypertelorism 644 / 7739
3
(HPO:0000863) Central diabetes insipidus 7 / 7739
4
(HPO:0000938) Osteopenia 138 / 7739
5
(OMIM) Broad and short nose 4 / 7739
6
(OMIM) Low serum osteocalcin 1 / 7739
7
(OMIM) Decreased nerve cells of the supraoptic and paraventricular nuclei of the hypothalamus with associated mild gliosis 1 / 7739
8
(OMIM) Partial deficiency of oxytocin (OT) and its carrier protein, estrogen-stimulated neurophysin (ESN) 1 / 7739
9
(OMIM) Arginine vasopressin deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by ...
Clinical Description OMIM Normally the posterior pituitary hormones, antidiuretic hormone and oxytocin, are synthesized in the supraoptic and paraventricular nuclei of the hypothalamus and transported within axons, possibly in a biologically inactive, bound form, to the posterior lobe of the pituitary ...
Molecular genetics OMIM In a consanguineous Palestinian family with neurohypophyseal diabetes insipidus, Willcutts et al. (1999) identified a 301C-T mutation in exon 1 of the AVP gene (192340.0016), replacing proline-7 of mature AVP with leucine (Leu-AVP). All 3 affected children were ...