MCID: PSD033
MIFTS: 46

Pseudohypoparathyroidism Type 1b malady

Genetic diseases, Rare diseases, Nephrological diseases, Endocrine diseases, Fetal diseases, Metabolic diseases, Eye diseases, Bone diseases, Skin diseases categories
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Summaries for Pseudohypoparathyroidism Type 1b

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NIH Rare Diseases:42 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 based summary: Pseudohypoparathyroidism Type 1b, also known as pseudohypoparathyroidism, type ib, is related to pseudohypoparathyroidism and mccune albright syndrome, and has symptoms including 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, and related mouse phenotype integument.

Description from OMIM:46 603233

Aliases & Classifications for Pseudohypoparathyroidism Type 1b

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 48Orphanet, 62UMLS, 46OMIM, 44Novoseek, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Pseudohypoparathyroidism Type 1b, Aliases & Descriptions:

Name: Pseudohypoparathyroidism Type 1b 42 20 22 48 62
Pseudohypoparathyroidism, Type Ib 46 44 62
 
Pseudohypoparathyroidism Ib 46
Php1b 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
pseudohypoparathyroidism type 1b:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Childhood


External Ids:

OMIM46 603233
MESH via Orphanet35 C548075
ICD10 via Orphanet26 E20.1
UMLS via Orphanet63 C2932715

Related Diseases for Pseudohypoparathyroidism Type 1b

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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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Symptoms by clinical synopsis from OMIM:

603233

Clinical features from OMIM:

603233

HPO human phenotypes related to Pseudohypoparathyroidism Type 1b:

(show all 10)
id Description Frequency HPO Source Accession
1 brachydactyly syndrome rare (5%) HP:0001156
2 obesity rare (5%) HP:0001513
3 short metacarpal rare (5%) HP:0010049
4 autosomal dominant inheritance HP:0000006
5 pseudohypoparathyroidism HP:0000852
6 hypocalcemia HP:0002901
7 hyperphosphatemia HP:0002905
8 elevated circulating parathyroid hormone (pth) level HP:0003165
9 low urinary cyclic amp response to pth administration HP:0003456
10 sporadic HP:0003745

Drugs & Therapeutics for Pseudohypoparathyroidism Type 1b

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Drug clinical trials:

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Search NIH Clinical Center for Pseudohypoparathyroidism Type 1b

Genetic Tests for Pseudohypoparathyroidism Type 1b

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Genetic tests related to Pseudohypoparathyroidism Type 1b:

id Genetic test Affiliating Genes
1 Pseudohypoparathyroidism Type Ib20 STX16
2 Pseudohypoparathyroidism Type 1b22

Anatomical Context for Pseudohypoparathyroidism Type 1b

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MalaCards organs/tissues related to Pseudohypoparathyroidism Type 1b:

32
Thyroid, Kidney, Bone, Cortex

Animal Models for Pseudohypoparathyroidism Type 1b or affiliated genes

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MGI Mouse Phenotypes related to Pseudohypoparathyroidism Type 1b:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.6PTHLH, GNAS-AS1, GNAS

Publications for Pseudohypoparathyroidism Type 1b

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Articles related to Pseudohypoparathyroidism Type 1b:

(show all 16)
idTitleAuthorsYear
1
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b. (25005734)
2014
2
Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q. (23144470)
2013
3
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
4
Pseudohypoparathyroidism type 1b with hypothyroidism. (22962241)
2012
5
Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B. (22736772)
2012
6
Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis. (21062889)
2011
7
Establishment of diagnosis by bisulfite-treated methylation-specific PCR method and analysis of clinical characteristics of pseudohypoparathyroidism type 1b. (21836370)
2011
8
Madelung-like deformity in pseudohypoparathyroidism type 1b. (21752878)
2011
9
Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b. (19916794)
2010
10
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
11
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
12
Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1. (12858292)
2003
13
Galphas transcripts are biallelically expressed in the human kidney cortex: implications for pseudohypoparathyroidism type 1b. (11600515)
2001
14
Analysis of the P3 promoter of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene in pseudohypoparathyroidism type 1b. (11238537)
2001
15
Pseudohypoparathyroidism type 1b in pregnancy. (10352393)
1999
16
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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Clinvar genetic disease variations for Pseudohypoparathyroidism Type 1b:

6
id Gene Name Type Significance SNP ID Assembly Location
1GNAS-AS1GNASAS, 4.7-KB DELdeletionPathogenic
2GNASGNAS, 4.7-KB DELdeletionPathogenic
3GNASGNAS, 3-BP DEL, CAT, EXON 13deletionPathogenic
4GNASGNAS, METHYLATION CHANGES, PATERNAL EPIGENOTYPEundetermined variantPathogenic
5STX16STX16, 3-KB TO 4.4-KB MICRODELETIONdeletionPathogenic

Expression for genes affiliated with Pseudohypoparathyroidism Type 1b

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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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Compounds for genes affiliated with Pseudohypoparathyroidism Type 1b

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Compounds related to Pseudohypoparathyroidism Type 1b according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1octreotide44 61 28 1112.5GNAS, PTHLH
2isoproterenol44 1110.5PTHLH, GNAS
3ribonucleic acid449.4GNAS, PTHLH
4pge2449.4GNAS, PTHLH
5norepinephrine44 24 1111.3GNAS, PTHLH
6forskolin44 50 1111.1PTHLH, GNAS

GO Terms for genes affiliated with Pseudohypoparathyroidism Type 1b

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

idNameGO IDScoreTop Affiliating Genes
1endochondral ossificationGO:0019589.4PTHLH, GNAS
2female pregnancyGO:0075659.4PTHLH, GNAS
3positive regulation of cAMP biosynthetic processGO:0308199.3PTHLH, GNAS
4adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.1PTHLH, GNAS

Products for genes affiliated with Pseudohypoparathyroidism Type 1b

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Sources for Pseudohypoparathyroidism Type 1b

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet