MCID: HRD156
MIFTS: 17

Hereditary Central Diabetes Insipidus

Categories: Endocrine diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hereditary Central Diabetes Insipidus

MalaCards integrated aliases for Hereditary Central Diabetes Insipidus:

Name: Hereditary Central Diabetes Insipidus 60
Hereditary Neurogenic Diabetes Insipidus 60
Hereditary Cdi 60

Characteristics:

Orphanet epidemiological data:

60
hereditary central diabetes insipidus
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare endocrine diseases


Summaries for Hereditary Central Diabetes Insipidus

MalaCards based summary : Hereditary Central Diabetes Insipidus, also known as hereditary neurogenic diabetes insipidus, is related to diabetes insipidus. An important gene associated with Hereditary Central Diabetes Insipidus is AVP (Arginine Vasopressin). Related phenotypes are polydipsia and diabetes insipidus

Related Diseases for Hereditary Central Diabetes Insipidus

Diseases in the Diabetes Insipidus family:

Hereditary Central Diabetes Insipidus Acquired Central Diabetes Insipidus

Diseases related to Hereditary Central Diabetes Insipidus via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 diabetes insipidus 10.2

Symptoms & Phenotypes for Hereditary Central Diabetes Insipidus

Human phenotypes related to Hereditary Central Diabetes Insipidus:

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polydipsia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001959
2 diabetes insipidus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000873
3 fever 60 33 frequent (33%) Frequent (79-30%) HP:0001945
4 vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002013
5 irritability 60 33 frequent (33%) Frequent (79-30%) HP:0000737
6 weight loss 60 33 frequent (33%) Frequent (79-30%) HP:0001824
7 growth delay 60 33 frequent (33%) Frequent (79-30%) HP:0001510
8 diarrhea 60 33 frequent (33%) Frequent (79-30%) HP:0002014
9 lethargy 60 33 frequent (33%) Frequent (79-30%) HP:0001254

Drugs & Therapeutics for Hereditary Central Diabetes Insipidus

Search Clinical Trials , NIH Clinical Center for Hereditary Central Diabetes Insipidus

Genetic Tests for Hereditary Central Diabetes Insipidus

Anatomical Context for Hereditary Central Diabetes Insipidus

Publications for Hereditary Central Diabetes Insipidus

Articles related to Hereditary Central Diabetes Insipidus:

# Title Authors Year
1
Vasopressin processing defects in the Brattleboro rat: implications for hereditary central diabetes insipidus in humans? ( 9756087 )
1998
2
The molecular biology of human hereditary central diabetes insipidus. ( 1282720 )
1992
3
Hereditary central diabetes insipidus: plasma levels of antidiuretic hormone in a family with a possible osmoreceptor defect. ( 6498676 )
1984

Variations for Hereditary Central Diabetes Insipidus

Expression for Hereditary Central Diabetes Insipidus

Search GEO for disease gene expression data for Hereditary Central Diabetes Insipidus.

Pathways for Hereditary Central Diabetes Insipidus

GO Terms for Hereditary Central Diabetes Insipidus

Sources for Hereditary Central Diabetes Insipidus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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