MCID: HRD156
MIFTS: 17

Hereditary Central Diabetes Insipidus

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

Aliases & Classifications for Hereditary Central Diabetes Insipidus

MalaCards integrated aliases for Hereditary Central Diabetes Insipidus:

Name: Hereditary Central Diabetes Insipidus 59
Hereditary Neurogenic Diabetes Insipidus 59
Hereditary Cdi 59

Characteristics:

Orphanet epidemiological data:

59
hereditary central diabetes insipidus
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
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 irritability 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 10.1

Symptoms & Phenotypes for Hereditary Central Diabetes Insipidus

Human phenotypes related to Hereditary Central Diabetes Insipidus:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
2 diabetes insipidus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000873
3 lethargy 59 32 frequent (33%) Frequent (79-30%) HP:0001254
4 growth delay 59 32 frequent (33%) Frequent (79-30%) HP:0001510
5 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
6 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
7 polydipsia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001959
8 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
9 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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