MCID: HRD156
MIFTS: 24

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 58 6
Hereditary Neurogenic Diabetes Insipidus 58
Hereditary Cdi 58

Characteristics:

Orphanet epidemiological data:

58
hereditary central diabetes insipidus
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
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 and diabetes insipidus, neurohypophyseal. An important gene associated with Hereditary Central Diabetes Insipidus is AVP (Arginine Vasopressin). Affiliated tissues include pituitary, and 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 10.4
2 diabetes insipidus, neurohypophyseal 10.0

Symptoms & Phenotypes for Hereditary Central Diabetes Insipidus

Human phenotypes related to Hereditary Central Diabetes Insipidus:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polydipsia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001959
2 diabetes insipidus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000873
3 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
4 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
5 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
6 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
7 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
8 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
9 diarrhea 58 31 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

MalaCards organs/tissues related to Hereditary Central Diabetes Insipidus:

40
Pituitary

Publications for Hereditary Central Diabetes Insipidus

Articles related to Hereditary Central Diabetes Insipidus:

(show all 38)
# Title Authors PMID Year
1
Differential cellular handling of defective arginine vasopressin (AVP) prohormones in cells expressing mutations of the AVP gene associated with autosomal dominant and recessive familial neurohypophyseal diabetes insipidus. 6
15356057 2004
2
A novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus. 6
15070970 2004
3
Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis. 6
14673472 2004
4
A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons. 6
14660745 2003
5
Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor. 6
12107248 2002
6
Effects of aging on vasopressin production in a kindred with autosomal dominant neurohypophyseal diabetes insipidus due to the DeltaE47 neurophysin mutation. 6
11836335 2002
7
Familial neurohypophysial diabetes insipidus in a large Dutch kindred: effect of the onset of diabetes on growth in children and cell biological defects of the mutant vasopressin prohormone. 6
11443218 2001
8
Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin-neurophysin II gene (AVP-NP II) in two dutch families with familial neurohypophyseal diabetes insipidus. 6
11017955 2000
9
Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier. 6
10487710 1999
10
Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation. 6
10443701 1999
11
Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant. 6
9814475 1998
12
Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus. 6
9580132 1998
13
Identification of mutations of the arginine vasopressin-neurophysin II gene in two kindreds with familial central diabetes insipidus. 6
9467595 1998
14
Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23-->Val in neurophysin II. 6
9360520 1997
15
Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-1-->Val in the signal peptide of the arginine vasopressin/neurophysin II/copeptin precursor. 6
8989232 1997
16
Heterologous expression of human vasopressin-neurophysin precursors in a pituitary cell line: defective transport of a mutant protein from patients with familial diabetes insipidus. 6
8945633 1996
17
A new type of familial central diabetes insipidus caused by a single base substitution in the neurophysin II coding region of the vasopressin gene. 6
8626836 1996
18
A novel point mutation in the translation initiation codon of the pre-pro-vasopressin-neurophysin II gene: cosegregation with morphological abnormalities and clinical symptoms in autosomal dominant neurohypophyseal diabetes insipidus. 6
8550751 1996
19
Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus. 6
7714110 1995
20
Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus. 6
8103767 1993
21
Detection of a novel arginine vasopressin defect by dideoxy fingerprinting. 6
8370681 1993
22
Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation. 6
8370682 1993
23
Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus. 6
8514868 1993
24
A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus. 6
1740104 1992
25
A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. 6
1840604 1991
26
Sweat tests in patients with diabetes insipidus. 6
3390991 1988
27
Autoantibodies to vasopressin cells in idiopathic diabetes insipidus: evidence for an autoimmune variant. 6
6132221 1983
28
Mice deficient for ERAD machinery component Sel1L develop central diabetes insipidus. 61
28920918 2017
29
[Water metabolism and its disturbances]. 61
10639821 1999
30
Contribution of vasopressin to progression of chronic renal failure: study in Brattleboro rats. 61
10499867 1999
31
Vasopressin processing defects in the Brattleboro rat: implications for hereditary central diabetes insipidus in humans? 61
9756087 1998
32
Two families with hereditary diabetes insipidus not due to osmoreceptor failure. 61
1572598 1992
33
The molecular biology of human hereditary central diabetes insipidus. 61
1282720 1992
34
[Polyuria and hereditary central diabetes insipidus]. 61
4082152 1985
35
Hereditary central diabetes insipidus: plasma levels of antidiuretic hormone in a family with a possible osmoreceptor defect. 61
6498676 1984
36
Biological half-lives and organ distribution of tritiated 8-lysine-vasopressin and 1-deamino-8-D-arginine-vasopressin in Brattleboro rats. 61
6960751 1982
37
Study on the biological half-life and organ-distribution of tritiated lysine-vasopressin in Brattleboro rats. 61
7435206 1980
38
[Electrolyte excretion and renal concentrating ability after inhibition of prostaglandin synthesis with indomethacin. Studies in healthy subjects and in patients with hereditary central diabetes insipidus]. 61
611846 1977

Variations for Hereditary Central Diabetes Insipidus

ClinVar genetic disease variations for Hereditary Central Diabetes Insipidus:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AVP NM_000490.5(AVP):c.262G>A (p.Gly88Ser) SNV Pathogenic 12204 rs121964882 GRCh37: 20:3063683-3063683
GRCh38: 20:3083037-3083037
2 AVP NM_000490.5(AVP):c.143G>T (p.Gly48Val) SNV Pathogenic 12205 rs121964883 GRCh37: 20:3063802-3063802
GRCh38: 20:3083156-3083156
3 AVP AVP, 3-BP DEL, NT1824 Deletion Pathogenic 12207 GRCh37:
GRCh38:
4 AVP NM_000490.5(AVP):c.294C>A (p.Cys98Ter) SNV Pathogenic 12208 rs121964884 GRCh37: 20:3063651-3063651
GRCh38: 20:3083005-3083005
5 AVP NM_000490.5(AVP):c.277G>T (p.Gly93Trp) SNV Pathogenic 12209 rs121964885 GRCh37: 20:3063668-3063668
GRCh38: 20:3083022-3083022
6 AVP AVP, 1-BP DEL, 227G Deletion Pathogenic 12210 GRCh37:
GRCh38:
7 AVP NM_000490.5(AVP):c.287G>T (p.Gly96Val) SNV Pathogenic 12211 rs121964886 GRCh37: 20:3063658-3063658
GRCh38: 20:3083012-3083012
8 AVP NM_000490.5(AVP):c.161G>T (p.Gly54Val) SNV Pathogenic 12213 rs121964887 GRCh37: 20:3063784-3063784
GRCh38: 20:3083138-3083138
9 AVP NM_000490.5(AVP):c.160G>C (p.Gly54Arg) SNV Pathogenic 12214 rs121964888 GRCh37: 20:3063785-3063785
GRCh38: 20:3083139-3083139
10 AVP NM_000490.5(AVP):c.337G>T (p.Glu113Ter) SNV Pathogenic 12215 rs121964889 GRCh37: 20:3063434-3063434
GRCh38: 20:3082788-3082788
11 AVP NM_000490.5(AVP):c.260C>T (p.Ser87Phe) SNV Pathogenic 12216 rs121964890 GRCh37: 20:3063685-3063685
GRCh38: 20:3083039-3083039
12 AVP NM_000490.5(AVP):c.275G>A (p.Cys92Tyr) SNV Pathogenic 12217 rs121964891 GRCh37: 20:3063670-3063670
GRCh38: 20:3083024-3083024
13 AVP NM_000490.5(AVP):c.200T>C (p.Val67Ala) SNV Pathogenic 12218 rs28934878 GRCh37: 20:3063745-3063745
GRCh38: 20:3083099-3083099
14 AVP NM_000490.5(AVP):c.346T>G (p.Cys116Gly) SNV Pathogenic 12220 rs74315383 GRCh37: 20:3063425-3063425
GRCh38: 20:3082779-3082779
15 AVP NM_000490.5(AVP):c.61T>C (p.Tyr21His) SNV Pathogenic 12221 rs121964893 GRCh37: 20:3065260-3065260
GRCh38: 20:3084614-3084614
16 AVP AVP, 3-BP DEL, PHE3DEL Deletion Pathogenic 12222 GRCh37:
GRCh38:
17 AVP NM_000490.5(AVP):c.55G>A (p.Ala19Thr) SNV Pathogenic 12206 rs387906511 GRCh37: 20:3065266-3065266
GRCh38: 20:3084620-3084620
18 AVP NM_000490.5(AVP):c.56C>T (p.Ala19Val) SNV Pathogenic 12212 rs387906512 GRCh37: 20:3065265-3065265
GRCh38: 20:3084619-3084619
19 AVP NM_000490.5(AVP):c.131G>T (p.Cys44Phe) SNV Likely pathogenic 369949 rs1057516192 GRCh37: 20:3063814-3063814
GRCh38: 20:3083168-3083168
20 AVP NM_000490.5(AVP):c.229GAG[1] (p.Glu78del) Microsatellite Likely pathogenic 976038 GRCh37: 20:3063711-3063713
GRCh38: 20:3083065-3083067

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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