MCID: PSD033
MIFTS: 44

Pseudohypoparathyroidism Type 1b malady

Genetic diseases, Rare diseases, Nephrological diseases, Endocrine diseases, Fetal diseases, Eye diseases, Bone diseases, Skin diseases categories

Summaries for Pseudohypoparathyroidism Type 1b

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Pseudohypoparathyroidism type 1b (php1b) is a genetic disorder that is caused by a lack of response (resistance) to parathyroid hormone (pth) and other hormones such as thyroid-stimulating hormone (tsh). this condition is very similar to hypoparathyroidism (in which not enough pth is produced), causing low calcium levels and high phosphate levels in the blood. resistance to pth in individuals with type 1b may be limited to the kidneys. the severity of the condition can vary considerably among affected individuals, even within the same family. most individuals do not have an abnormal physical appearance and usually do not exhibit other endocrine abnormalities. in some cases, php1b is inherited in an autosomal dominant manner and is caused by mutations in either the gnas or stx16 genes. in other cases, it has been shown to be sporadic (not inherited), caused by imprinting defects in the gnas gene. the goals of treatment are to correct the calcium deficiency and prevent complications. last updated: 7/8/2013

MalaCards: Pseudohypoparathyroidism Type 1b, also known as pseudohypoparathyroidism, type ib, is related to pseudohypoparathyroidism and klinefelter's syndrome. An important gene associated with Pseudohypoparathyroidism Type 1b is GNAS (GNAS complex locus), and among its related pathways are ADP signalling through P2Y purinoceptor 12 and G alpha (s) signalling events. The compounds octreotide and isoproterenol have been mentioned in the context of this disorder. Affiliated tissues include thyroid, kidney and bone.

Description from OMIM:48 603233

Aliases & Classifications for Pseudohypoparathyroidism Type 1b

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44NIH Rare Diseases, 21GeneTests, 23GTR, 50Orphanet, 63UMLS, 48OMIM, 46Novoseek, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
pseudohypoparathyroidism type 1b:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Childhood


Aliases & Descriptions:

pseudohypoparathyroidism type 1b 44 21 23 50 63
pseudohypoparathyroidism, type ib 48 46 63
pseudohypoparathyroidism ib 48
php1b 44


External Ids:

OMIM48 603233
MESH via Orphanet37 C548075
ICD10 via Orphanet27 E20.1
UMLS via Orphanet64 C2932715

Related Diseases for Pseudohypoparathyroidism Type 1b

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Pseudohypoparathyroidism Type 1b:



Diseases related to pseudohypoparathyroidism type 1b

Symptoms for Pseudohypoparathyroidism Type 1b

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48OMIM
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Symptoms by clinical synopsis from OMIM:

603233

Clinical features from OMIM:

603233

Drugs & Therapeutics for Pseudohypoparathyroidism Type 1b

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Genetic Tests for Pseudohypoparathyroidism Type 1b

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21GeneTests, 23GTR
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Genetic tests related to Pseudohypoparathyroidism Type 1b:

id Genetic test Affiliating Genes
1 Pseudohypoparathyroidism Type Ib21 STX16
2 Pseudohypoparathyroidism Type 1b23

Anatomical Context for Pseudohypoparathyroidism Type 1b

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34MalaCards
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MalaCards organs/tissues related to Pseudohypoparathyroidism Type 1b:

34
Thyroid, Kidney, Bone, Cortex

Animal Models for Pseudohypoparathyroidism Type 1b or affiliated genes

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Publications for Pseudohypoparathyroidism Type 1b

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53PubMed
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Articles related to Pseudohypoparathyroidism Type 1b:

(show all 15)
idTitleAuthorsYear
1
Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q. (23144470)
2013
2
Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b. (23649963)
2013
3
Pseudohypoparathyroidism type 1b with hypothyroidism. (22962241)
2012
4
Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B. (22736772)
2012
5
Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis. (21062889)
2011
6
Establishment of diagnosis by bisulfite-treated methylation-specific PCR method and analysis of clinical characteristics of pseudohypoparathyroidism type 1b. (21836370)
2011
7
Madelung-like deformity in pseudohypoparathyroidism type 1b. (21752878)
2011
8
Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b. (19916794)
2010
9
Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B. (20008020)
2010
10
Successful off-label use of cinacalcet HCl after standard therapy failure in a young man with pseudohypoparathyroidism Type 1b and vitamin D intoxication sequelae. (19000547)
2008
11
Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1. (12858292)
2003
12
Galphas transcripts are biallelically expressed in the human kidney cortex: implications for pseudohypoparathyroidism type 1b. (11600515)
2001
13
Analysis of the P3 promoter of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene in pseudohypoparathyroidism type 1b. (11238537)
2001
14
Pseudohypoparathyroidism type 1b in pregnancy. (10352393)
1999
15
Cloning and characterization of the promoter regions of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene: analysis of deoxyribonucleic acid from normal subjects and patients with pseudohypoparathyroidism type 1b. (9100569)
1997

Variations for Pseudohypoparathyroidism Type 1b

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Expression for genes affiliated with Pseudohypoparathyroidism Type 1b

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pseudohypoparathyroidism Type 1b

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Pathways for genes affiliated with Pseudohypoparathyroidism Type 1b

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51PathCards, 56Reactome, 61Thomson Reuters, 54QIAGEN, 52PharmGKB
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Compounds for genes affiliated with Pseudohypoparathyroidism Type 1b

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46Novoseek, 62Tocris Bioscience, 30IUPHAR, 12DrugBank, 25HMDB, 52PharmGKB
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Compounds related to Pseudohypoparathyroidism Type 1b according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1octreotide46 62 30 1212.6PTHLH, GNAS
2isoproterenol46 1210.5PTHLH, GNAS
3ribonucleic acid469.5GNAS, PTHLH
4norepinephrine46 25 1211.5PTHLH, GNAS
5forskolin46 52 1211.4PTHLH, GNAS
6pge2469.4GNAS, PTHLH
7thymidine46 2510.3PTHLH, GNAS
8progesterone46 30 62 25 1213.3PTHLH, GNAS
9adenylate469.2PTHLH, GNAS
10cyclic amp46 2510.0PTHLH, GNAS

GO Terms for genes affiliated with Pseudohypoparathyroidism Type 1b

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17Gene Ontology
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Biological processes related to Pseudohypoparathyroidism Type 1b according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endochondral ossificationGO:0019589.3PTHLH, GNAS
2female pregnancyGO:0075659.3PTHLH, GNAS
3positive regulation of cAMP biosynthetic processGO:0308199.2PTHLH, GNAS
4adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.0PTHLH, GNAS

Products for genes affiliated with Pseudohypoparathyroidism Type 1b

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Sources for Pseudohypoparathyroidism Type 1b

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet