MCID: PSD066
MIFTS: 47

Pseudohypoparathyroidism, Type Ib malady

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

Aliases & Classifications for Pseudohypoparathyroidism, Type Ib

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Sources:
49OMIM, 47Novoseek, 65UMLS, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Pseudohypoparathyroidism, Type Ib:

Name: Pseudohypoparathyroidism, Type Ib 49 47 65
Pseudohypoparathyroidism Type 1b 45 22 51 24 65
Php1b 45 22 67
 
Pseudohypoparathyroidism Ib 49 11
Pseudohypoparathyroidism 1b 67
Php 1b 22


Classifications:



Characteristics (Orphanet epidemiological data):

51
pseudohypoparathyroidism type 1b:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Childhood,Infancy,Neonatal


External Ids:

OMIM49 603233
Orphanet51 94089
UMLS via Orphanet66 C2932715
ICD10 via Orphanet28 E20.1
MESH via Orphanet37 C548075
MedGen34 C1864100
MeSH36 D011547

Summaries for Pseudohypoparathyroidism, Type Ib

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OMIM:49 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 beckwith-wiedemann syndrome, 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. Affiliated tissues include thyroid, kidney and bone, and related mouse phenotypes are limbs/digits/tail and craniofacial.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 Pseudohypoparathyroidism 1B: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH.

Related Diseases for Pseudohypoparathyroidism, Type Ib

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Diseases in the Pseudohypoparathyroidism family:

Pseudohypoparathyroidism Ia Pseudohypoparathyroidism Ic
pseudohypoparathyroidism, type ib Pseudohypoparathyroidism Type 2

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

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoparathyroidism11.0
2beckwith-wiedemann syndrome10.2
3hypothyroidism10.2
4klinefelter's syndrome10.2
5albright's hereditary osteodystrophy10.2
6hyperparathyroidism10.2
7growth hormone deficiency10.2
8vagina squamous papilloma10.2GNAS, STX16
9hypoglycemia10.1
10osteogenesis imperfecta congenita microcephaly and cataracts10.1BGLAP, GNAS
11pseudopseudohypoparathyroidism10.1BGLAP, GNAS
12worth's syndrome10.1BGLAP, GNAS
13craniodiaphyseal dysplasia10.1BGLAP, PTH
14vkorc1-related altered drug metabolism10.1BGLAP, PTH
15cannabis dependence10.1PTH, PTH1R
16waldeyer's ring cancer10.1BGLAP, PTH
17osteoarthropathy of fingers familial10.1PTH, PTH1R
18impetigo10.0BGLAP, PTH
19pulmonary type ovarian small cell carcinoma10.0BGLAP, PTH
20prostatic cyst10.0BGLAP, PTH
21hereditary elliptocytosis10.0BGLAP, PTH
22cell type cancer10.0GNAS, PTH
23neuroectodermal tumor10.0BGLAP, PTH
24gonadal disease10.0BGLAP, GNAS
25keratoacanthoma10.0GNAS, PTHLH
26bone structure disease10.0BGLAP, PTH
27multiple endocrine neoplasia 110.0GNAS, PTH
28pediatric intraocular retinoblastoma10.0BGLAP, PTH
29peripheral primitive neuroectodermal tumor10.0GNAS, PTHLH
30lateral myocardial infarction10.0PTH1R, PTHLH
31anterior compartment syndrome10.0PTH1R, PTHLH
32osteomyelitis10.0BGLAP, PTH1R
33hypertrichosis10.0BGLAP, GNAS
34acth-independent macronodular adrenal hyperplasia10.0GNAS, PTH, STX16
35loeys-dietz syndrome10.0GNAS, PTH, STX16
36schwannoma of jugular foramen10.0BGLAP, PTH
37metaphyseal dysplasia10.0GNAS, PTH, STX16
38marcus gunn phenomenon10.0BGLAP, PTHLH
39autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to tud deficiency9.9PTH1R, PTHLH
40skeleto cardiac syndrome with thrombocytopenia9.9PTH1R, PTHLH
41onychocytic matricoma9.9PTH, PTHLH
42breast rhabdomyosarcoma9.9PTH, PTHLH
43juxtacortical osteosarcoma9.9PTH, PTHLH
44anal buschke-lowenstein tumor9.9PTH, PTHLH
45mucolipidosis9.9BGLAP, GNAS, PTH
46parathyroid gland disease9.9PTH, PTHLH
47croup9.9BGLAP, PTH
48bone deterioration disease9.9BGLAP, PTHLH
49mite infestation9.9PTH, PTHLH
50serous conjunctivitis except viral9.9PTH, PTHLH

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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Interventional clinical trials:

Search ClinicalTrials, 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 Ib22 STX16
2 Pseudohypoparathyroidism Type 1b24

Anatomical Context for Pseudohypoparathyroidism, Type Ib

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MalaCards organs/tissues related to Pseudohypoparathyroidism, Type Ib:

33
Thyroid, Kidney, Bone, Skin, Testes, Eye

Animal Models for Pseudohypoparathyroidism, Type Ib or affiliated genes

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MGI Mouse Phenotypes related to Pseudohypoparathyroidism, Type Ib:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.1GNAS, PTH, PTH1R, PTHLH
2MP:00053827.8GNAS, PTH, PTH1R, PTHLH

Publications for Pseudohypoparathyroidism, Type Ib

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Articles related to Pseudohypoparathyroidism, Type Ib:

(show all 42)
idTitleAuthorsYear
1
Pseudohypoparathyroidism type Ib in 2015. (25910998)
2015
2
Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus. (25710380)
2015
3
Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. (25843330)
2015
4
Analysis of Multiple Families with Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion. (26479409)
2015
5
Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B). (25997889)
2015
6
A 22-year-old woman with hypocalcemia and clinical features of albright hereditary osteodystrophy diagnosed with sporadic pseudohypoparathyroidism type Ib using a methylation-specific multiplex ligation-dependent probe amplification assay. (24785890)
2014
7
TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib). (25403028)
2014
8
Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR. (24438374)
2014
9
Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification. (23095209)
2013
10
Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay. (23132697)
2013
11
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. (22378814)
2012
12
De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases. (23087324)
2012
13
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib. (20972248)
2011
14
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
15
Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib. (20538864)
2010
16
Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib. (20960161)
2010
17
PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib. (18617581)
2008
18
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
19
Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16. (17317779)
2007
20
Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. (17595244)
2007
21
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
22
Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus. (16831926)
2006
23
Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. (15629959)
2005
24
Klinefelter's syndrome with seizure, pseudohypoparathyroidism type Ib and multiple endocrine dysfunctions. (16379343)
2005
25
A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. (15800843)
2005
26
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. (15592469)
2005
27
Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. (15537666)
2005
28
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
29
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. (14561710)
2003
30
Completely skewed X-inactivation in a mentally retarded young female with pseudohypoparathyroidism type IB and juvenile renin-dependent hypertension. (12843141)
2003
31
Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets. (12374764)
2002
32
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
33
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
34
Serial changes in bone mineral density and bone turnover after correction of secondary hyperparathyroidism in a patient with pseudohypoparathyroidism type Ib. (10893692)
2000
35
A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. (11067869)
2000
36
Pseudohypohyperparathyroidism-pseudohypoparathyroidism type Ib. (10352113)
1999
37
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. (9751745)
1998
38
Cloning and characterization of kidney-specific promoter of human PTH/PTHrP receptor gene: absence of mutation in patients with pseudohypoparathyroidism type Ib. (9723884)
1998
39
Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib. (8675577)
1996
40
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
41
Rhabdomyolysis associated with pseudohypoparathyroidism type Ib--a case report]. (8334797)
1993
42
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:

5
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.

GO Terms for genes affiliated with Pseudohypoparathyroidism, Type Ib

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1response to parathyroid hormoneGO:00711079.9GNAS, PTH
2bone resorptionGO:00454539.7PTH, PTH1R
3cAMP metabolic processGO:00460589.7PTH, PTHLH
4response to vitamin DGO:00332809.6BGLAP, PTH
5bone mineralizationGO:00302829.6BGLAP, PTH1R
6response to nutrient levelsGO:00316679.5BGLAP, PTH
7female pregnancyGO:00075659.5GNAS, PTHLH
8ossificationGO:00015039.4BGLAP, PTH1R
9bone developmentGO:00603489.2BGLAP, GNAS
10osteoblast developmentGO:00020769.2BGLAP, PTH1R, PTHLH
11endochondral ossificationGO:00019589.1GNAS, PTHLH
12response to drugGO:00424939.0BGLAP, GNAS, PTH
13positive regulation of cAMP biosynthetic processGO:00308199.0GNAS, PTH, PTHLH
14adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071898.5GNAS, PTH, PTH1R, PTHLH
15skeletal system developmentGO:00015017.6BGLAP, GNAS, PTH, PTH1R, PTHLH

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

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

Sources for Pseudohypoparathyroidism, Type Ib

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet