MCID: PSD066
MIFTS: 53

Pseudohypoparathyroidism, Type Ib malady

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

Summaries for Pseudohypoparathyroidism, Type Ib

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OMIM:45 Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by resistance to parathyroid... (603233) more...

MalaCards based summary: Pseudohypoparathyroidism, Type Ib, also known as pseudohypoparathyroidism type 1b, is related to pseudohypoparathyroidism and hypothyroidism, and has symptoms including brachydactyly syndrome, obesity and short metacarpal. An important gene associated with Pseudohypoparathyroidism, Type Ib is STX16 (syntaxin 16), and among its related pathways are Endocrine and other factor-regulated calcium reabsorption and Osteoblast Signaling. The compounds guanosine 5-o-(3-thiotriphosphate) and teriparatide have been mentioned in the context of this disorder. Affiliated tissues include thyroid, kidney and bone, and related mouse phenotypes are limbs/digits/tail and craniofacial.

NIH Rare Diseases:41 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

Aliases & Classifications for Pseudohypoparathyroidism, Type Ib

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Sources:
45OMIM, 43Novoseek, 60UMLS, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Pseudohypoparathyroidism, Type Ib, Aliases & Descriptions:

Name: Pseudohypoparathyroidism, Type Ib 45 43 60
Pseudohypoparathyroidism Type 1b 41 20 47 22 60
 
Pseudohypoparathyroidism Ib 45 10
Php1b 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
pseudohypoparathyroidism type 1b:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Childhood,Infancy,Neonatal


External Ids:

OMIM45 603233
Orphanet47 94089
MESH via Orphanet34 C548075
ICD10 via Orphanet26 E20.1
UMLS via Orphanet61 C2932715

Related Diseases for Pseudohypoparathyroidism, Type Ib

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Diseases in the Pseudohypoparathyroidism family:

pseudohypoparathyroidism, type ib Pseudohypoparathyroidism Ia
Pseudohypoparathyroidism Ic Pseudohypoparathyroidism Type 2

Diseases related to Pseudohypoparathyroidism, Type Ib via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoparathyroidism30.5STX16, PTH1R, PTH, GNAS, BGLAP, PTHLH
2hypothyroidism30.4CHKA, PTH, GNAS
3hyperparathyroidism30.1PTHLH, BGLAP, PTH
4mccune-albright syndrome, somatic, mosaic10.4GNAS
5klinefelter's syndrome10.3
6albright's hereditary osteodystrophy10.3
7growth hormone deficiency10.3
8mental retardation10.3
9osteonecrosis10.3BGLAP
10brachydactyly10.2PTH, GNAS
11multiple endocrine neoplasia 110.2PTH, GNAS
12hypoglycemia10.2
13ollier disease10.2PTHLH, PTH1R
14hyperprolactinemia10.2PTHLH, GNAS
15metaphyseal dysplasia10.1PTHLH, PTH1R
16leydig cell tumor10.1PTHLH, GNAS
17parathyroid gland disease10.1PTHLH, PTH
18hyperphosphatemia10.1GNAS, STX16, PTH
19prolactinoma10.1PTHLH, GNAS
20osseous heteroplasia, progressive10.1BGLAP, GNAS
21fibrous dysplasia10.1BGLAP, GNAS
22osteogenesis imperfecta10.0PTH1R, BGLAP
23renal osteodystrophy10.0PTH, BGLAP
24acromegaly10.0BGLAP, GNAS
25rickets10.0PTH, BGLAP
26spondyloarthropathy 110.0BGLAP, PTH
27skeletal dysplasia multi-gene panels10.0PTHLH, PTH1R, GNAS
28cushing's syndrome10.0GNAS, BGLAP
29marchiafava bignami disease10.0PTHLH, BGLAP
30parathyroid adenoma10.0PTHLH, GNAS, PTH
31metabolic acidosis10.0BGLAP, PTH
32bone cancer9.9BGLAP, PTHLH
33chondrosarcoma9.9PTHLH, PTH1R
34dwarfism9.9PTH1R, PTH, PTHLH
35primary hyperoxaluria9.9BGLAP, PTH
36graves' disease9.9BGLAP, GNAS
37cholera9.9GNAS, PTH, PTH1R, STX16
38osteitis fibrosa9.9BGLAP, GNAS, PTH
39kidney cancer9.9GNAS, PTHLH, CHKA
40goiter9.9BGLAP, PTH, GNAS
41hyperthyroidism9.9GNAS, PTH, BGLAP
42thyroid cancer9.9PTH, GNAS, BGLAP
43adenoma9.9PTH, GNAS, CHKA
44hypophosphatemia9.8PTHLH, BGLAP, PTH
45secondary hyperparathyroidism of renal origin9.8PTHLH, PTH, BGLAP
46osteoporosis9.8PTHLH, BGLAP, PTH
47breast cancer9.6CHKA, PTHLH, PTH1R
48hypoparathyroidism9.6PTH1R, BGLAP, PTHLH, PTH
49primary hyperparathyroidism9.6BGLAP, PTH1R, PTHLH, PTH
50hypercalcemia9.6PTHLH, PTH, BGLAP, PTH1R

Graphical network of the top 20 diseases related to Pseudohypoparathyroidism, Type Ib:



Diseases related to pseudohypoparathyroidism, type ib

Symptoms for Pseudohypoparathyroidism, Type Ib

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Symptoms by clinical synopsis from OMIM:

603233

Clinical features from OMIM:

603233

HPO human phenotypes related to Pseudohypoparathyroidism, Type Ib:

(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 Ib

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Drug clinical trials:

Search ClinicalTrials for Pseudohypoparathyroidism, Type Ib

Search NIH Clinical Center for Pseudohypoparathyroidism, Type Ib

Genetic Tests for Pseudohypoparathyroidism, Type Ib

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Genetic tests related to Pseudohypoparathyroidism, Type Ib:

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

Anatomical Context for Pseudohypoparathyroidism, Type Ib

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MalaCards organs/tissues related to Pseudohypoparathyroidism, Type Ib:

31
Thyroid, Kidney, Bone, Skin, Testes

Animal Models for Pseudohypoparathyroidism, Type Ib or affiliated genes

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MGI Mouse Phenotypes related to Pseudohypoparathyroidism, Type Ib:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.6GNAS, PTH, PTH1R, PTHLH
2MP:00053828.4PTH1R, PTH, GNAS, PTHLH
3MP:00053908.2PTHLH, GNAS, PTH, PTH1R
4MP:00053788.1GNAS-AS1, PTH, PTH1R, PTHLH, GNAS
5MP:00053767.7CHKA, PTHLH, PTH1R, PTH, GNAS-AS1, GNAS
6MP:00107687.6PTHLH, PTH1R, PTH, GNAS-AS1, GNAS, CHKA

Publications for Pseudohypoparathyroidism, Type Ib

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Articles related to Pseudohypoparathyroidism, Type Ib:

(show all 38)
idTitleAuthorsYear
1
Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus. (25710380)
2015
2
Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. (25843330)
2015
3
TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib). (25403028)
2014
4
Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR. (24438374)
2014
5
Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification. (23095209)
2013
6
Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay. (23132697)
2013
7
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. (22378814)
2012
8
De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases. (23087324)
2012
9
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib. (20972248)
2011
10
The administration of an active vitamin D(3) analogue reduced the serum concentrations of 1-84 and truncated parathyroid hormone in pseudohypoparathyroidism type Ib patients. (20508384)
2010
11
Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib. (20538864)
2010
12
Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib. (20960161)
2010
13
PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib. (18617581)
2008
14
Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild Albright's hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid. (18626245)
2008
15
Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16. (17317779)
2007
16
Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. (17595244)
2007
17
Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus. (17651445)
2007
18
Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus. (16831926)
2006
19
Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. (15629959)
2005
20
Klinefelter's syndrome with seizure, pseudohypoparathyroidism type Ib and multiple endocrine dysfunctions. (16379343)
2005
21
A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. (15800843)
2005
22
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. (15592469)
2005
23
Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. (15537666)
2005
24
Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance. (15579741)
2004
25
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. (14561710)
2003
26
Completely skewed X-inactivation in a mentally retarded young female with pseudohypoparathyroidism type IB and juvenile renin-dependent hypertension. (12843141)
2003
27
Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets. (12374764)
2002
28
Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus. (11406605)
2001
29
Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib. (11029463)
2001
30
Serial changes in bone mineral density and bone turnover after correction of secondary hyperparathyroidism in a patient with pseudohypoparathyroidism type Ib. (10893692)
2000
31
A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. (11067869)
2000
32
Pseudohypohyperparathyroidism-pseudohypoparathyroidism type Ib. (10352113)
1999
33
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. (9751745)
1998
34
Cloning and characterization of kidney-specific promoter of human PTH/PTHrP receptor gene: absence of mutation in patients with pseudohypoparathyroidism type Ib. (9723884)
1998
35
Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib. (8675577)
1996
36
Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. (7745008)
1995
37
Rhabdomyolysis associated with pseudohypoparathyroidism type Ib--a case report]. (8334797)
1993
38
Selective resistance to parathyroid hormone in cultured skin fibroblasts from patients with pseudohypoparathyroidism type Ib. (3005354)
1986

Variations for Pseudohypoparathyroidism, Type Ib

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Clinvar genetic disease variations for Pseudohypoparathyroidism, Type Ib:

6
id Gene Variation 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 Ib

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Search GEO for disease gene expression data for Pseudohypoparathyroidism, Type Ib.

Pathways for genes affiliated with Pseudohypoparathyroidism, Type Ib

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Pathways related to Pseudohypoparathyroidism, Type Ib according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6GNAS, PTH1R
29.5PTH1R, PTH
38.9PTH, PTH1R, PTHLH
48.7PTH1R, PTH, BGLAP
58.5PTH, PTH1R, PTHLH, GNAS
6
Show member pathways
8.5PTHLH, PTH1R, PTH, GNAS
7
Show member pathways
8.5PTHLH, GNAS, PTH, PTH1R
87.7PTHLH, BGLAP, GNAS, PTH, PTH1R

Compounds for genes affiliated with Pseudohypoparathyroidism, Type Ib

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Compounds related to Pseudohypoparathyroidism, Type Ib according to GeneCards Suite gene sharing:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1guanosine 5-o-(3-thiotriphosphate)439.8PTH1R, GNAS
2teriparatide43 1210.6PTH1R, BGLAP
3octreotide43 59 28 1212.5GNAS, PTHLH
4leupeptin439.5PTHLH, PTH
5ccl443 2810.5PTHLH, PTH1R
622-oxacalcitriol439.4BGLAP, PTHLH
7tartrate439.4PTHLH, BGLAP
8deoxypyridinoline439.4BGLAP, PTH
9clodronate43 49 1211.3BGLAP, PTHLH
10isoproterenol43 1210.3PTHLH, GNAS, PTH
11eb 108943 5910.3PTHLH, BGLAP
12zoledronic acid439.3BGLAP, PTHLH
13ibmx43 59 2811.2PTH, PTH1R, PTHLH
14procollagen439.1PTH, BGLAP
15bicarbonate439.0PTH, PTHLH
16calcium carbonate439.0BGLAP, PTH, PTHLH
17pamidronate43 49 1211.0BGLAP, PTHLH, PTH
18alendronate43 49 1210.9PTH, BGLAP, PTHLH
19hydroxyapatite438.9PTHLH, BGLAP
2025-hydroxyvitamin d438.9BGLAP, PTH, PTHLH
21ribonucleic acid438.9PTH, PTH1R, PTHLH, GNAS
22hydroxyproline43 24 1210.9PTH, BGLAP, PTHLH
23forskolin43 49 1210.9PTH, PTHLH, GNAS, PTH1R
24dihydrotestosterone43 28 24 1211.9PTHLH, CHKA, BGLAP
25simvastatin43 49 59 28 24 1213.9BGLAP, PTHLH, CHKA
26steroid438.8GNAS, PTH1R, PTHLH, CHKA
27nitric oxide43 24 1210.8PTHLH, PTH, GNAS, PTH1R
28threonine438.8CHKA, PTHLH, PTH1R, GNAS
29glucose438.6PTH, CHKA, PTHLH, GNAS
30paraffin438.6BGLAP, PTHLH, CHKA
311,25 dihydroxy vitamin d3438.5PTHLH, PTH1R, PTH, BGLAP
32calcitriol43 59 24 1211.5BGLAP, PTH, PTH1R, PTHLH
33arginine438.4PTHLH, BGLAP, PTH, GNAS
34thyroxine43 249.4PTHLH, CHKA, PTH, BGLAP
35thymidine43 249.4PTHLH, PTH1R, CHKA, PTH, GNAS
36adenylate438.4GNAS, PTHLH, PTH, PTH1R, CHKA
37cyclic amp43 249.4PTHLH, CHKA, GNAS, PTH1R, PTH
38tamoxifen43 49 28 1211.4CHKA, PTH, PTHLH, BGLAP
39estradiol43 24 1210.4PTH, PTHLH, CHKA, BGLAP
40creatinine438.4BGLAP, PTH, PTHLH, CHKA
41testosterone43 59 24 1211.3CHKA, PTHLH, BGLAP, PTH
42retinoic acid43 249.3CHKA, BGLAP, PTH1R, PTHLH
43pge2438.1PTHLH, BGLAP, GNAS, PTH, PTH1R
44alanine438.1CHKA, PTHLH, PTH1R, BGLAP, GNAS
45serine438.0PTHLH, GNAS, PTH1R, BGLAP, CHKA
46phosphorus438.0CHKA, PTHLH, PTH1R, PTH, BGLAP
47vitamin d438.0CHKA, BGLAP, PTH, PTH1R, PTHLH
48dexamethasone43 49 28 1210.9CHKA, PTHLH, PTH1R, PTH, BGLAP
49estrogen437.9BGLAP, PTH1R, CHKA, PTHLH, PTH
50calcium43 49 24 1210.5BGLAP, GNAS, PTH, PTH1R, PTHLH, CHKA

GO Terms for genes affiliated with Pseudohypoparathyroidism, Type Ib

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Cellular components related to Pseudohypoparathyroidism, Type Ib according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.1PTHLH, PTH, GNAS, BGLAP

Biological processes related to Pseudohypoparathyroidism, Type Ib according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1response to parathyroid hormoneGO:00711079.8GNAS, PTH
2bone resorptionGO:00454539.7PTH1R, PTH
3endochondral ossificationGO:00019589.6PTHLH, GNAS
4cAMP metabolic processGO:00460589.6PTH, PTHLH
5bone developmentGO:00603489.3GNAS, BGLAP
6response to vitamin DGO:00332809.3BGLAP, PTH
7bone mineralizationGO:00302829.3BGLAP, PTH1R
8regulation of gene expressionGO:00104689.2PTHLH, PTH
9positive regulation of cAMP biosynthetic processGO:00308199.2PTHLH, PTH, GNAS
10female pregnancyGO:00075659.2PTHLH, GNAS
11response to ethanolGO:00454719.1PTH, BGLAP
12osteoblast developmentGO:00020768.9PTHLH, PTH1R, BGLAP
13adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071898.8PTHLH, PTH1R, PTH, GNAS
14response to drugGO:00424938.8BGLAP, GNAS, PTH
15skeletal system developmentGO:00015018.3BGLAP, PTH, PTH1R, PTHLH

Molecular functions related to Pseudohypoparathyroidism, Type Ib according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00051799.3PTHLH, PTH
2peptide hormone receptor bindingGO:00514289.0PTHLH, PTH

Products for genes affiliated with Pseudohypoparathyroidism, Type Ib

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Sources for Pseudohypoparathyroidism, Type Ib

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3CDC
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14FMA
22GTR
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
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46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
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61UMLS via Orphanet