MCID: PSD066
MIFTS: 47

Pseudohypoparathyroidism, Type Ib malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Endocrine diseases, Fetal diseases, Eye diseases, Bone diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Pseudohypoparathyroidism, Type Ib

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Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Pseudohypoparathyroidism, Type Ib:

Name: Pseudohypoparathyroidism, Type Ib 51 49 67
Pseudohypoparathyroidism Type 1b 47 53 67
Pseudohypoparathyroidism Ib 51 24 12
Php1b 47 24 69
 
Pseudohypoparathyroidism 1b 69 26
Pseudohypoparathyroidism Type Ib 24
Php 1b 24

Characteristics:

Orphanet epidemiological data:

53
pseudohypoparathyroidism type 1b:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Childhood,Infancy,Neonatal

HPO:

63
pseudohypoparathyroidism, type ib:
Inheritance: autosomal dominant inheritance, sporadic

Classifications:



External Ids:

OMIM51 603233
Orphanet53 ORPHA94089
MESH via Orphanet39 C548075
ICD10 via Orphanet30 E20.1
UMLS via Orphanet68 C2932715
MedGen36 C1864100
MeSH38 D011547

Summaries for Pseudohypoparathyroidism, Type Ib

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OMIM:51 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 charcot-marie-tooth disease type 7, 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, bone and kidney, and related mouse phenotypes are craniofacial and limbs/digits/tail.

NIH Rare Diseases:47 Pseudohypoparathyroidism type 1B (PHP1B) is a disorder characterized by lack of response (resistance) to parathyroid hormone (PTH) and other hormones such as thyroid-stimulating hormone (TSH). Resistance mainly occurs in the kidneys, causing low blood calcium levels, high blood phosphate levels, and elevated PTH levels. The majority of people with PHP1B also have elevated TSH levels due to TSH resistance. Severity can vary considerably, even among affected people in the same family. Symptoms usually begin in childhood due to low calcium levels and include numbness, seizures, tetany, cataracts, and dental problems. Some children have skeletal problems, such as reduced bone mineral density and osteitis fibrosa. PHP1B is usually sporadic (not inherited), but familial cases with autosomal dominant inheritance have been reported. Treatment is lifelong, aiming to normalize calcium and PTH levels with active vitamin D metabolites (alfacalcidol or calcitriol) and calcium supplementation. Last updated: 9/22/2016

UniProtKB/Swiss-Prot:69 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 Ii

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

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoparathyroidism10.7
2charcot-marie-tooth disease type 710.4GNAS, STX16
3impotence10.1PTH, PTH1R
4chondrodysplasia, blomstrand type10.1PTH, PTH1R
5alveoli adenoma10.1BGLAP, GNAS
6achondrogenesis10.1BGLAP, PTH
7weaver syndrome 110.1BGLAP, PTH
8parathyroid transitional clear cell adenoma10.1BGLAP, PTH
9gestational diabetes10.1BGLAP, PTH
10capillariasis10.0BGLAP, PTH
11dyscalculia10.0BGLAP, PTH
12male reproductive organ benign neoplasm10.0GNAS, PTH
13vulvovaginal candidiasis10.0BGLAP, PTH1R
14bacillary angiomatosis10.0BGLAP, PTH
15bone osteosarcoma10.0GNAS, PTHLH
16commensal bacterial infectious disease10.0BGLAP, PTH
17physical disorder10.0BGLAP, PTH
18small cell osteogenic sarcoma10.0GNAS, PTHLH
19adenomyoma10.0PTH1R, PTHLH
20bone deterioration disease10.0BGLAP, PTH
21immunodeficiency, common variable, 59.9GNAS, PTH
22sensory peripheral neuropathy9.9GNAS, PTH, STX16
23ovarian insufficiency, familial9.9BGLAP, PTH
24protein s deficiency9.9BGLAP, GNAS
25leukodystrophy9.9BGLAP, PTH
26loeys-dietz syndrome9.9GNAS, PTH, STX16
27ptosis, strabismus, and ectopic pupils9.9PTH1R, PTHLH
28mild phosphoribosylpyrophosphate synthetase superactivity9.9PTH1R, PTHLH
29fryns macrocephaly9.9PTH1R, PTHLH
30beckwith-wiedemann syndrome9.8
31hyperparathyroidism9.8
32klinefelter's syndrome9.8
33growth hormone deficiency9.8
34adult pineal parenchymal tumor9.8PTH, PTHLH
35onychotrichodysplasia and neutropenia9.8PTH, PTHLH
36acidophil adenoma9.8PTH, PTHLH
37hypoglycemia9.8
38chronic rheumatic pericarditis9.8PTH, PTHLH
39anal buschke-lowenstein tumor9.8PTH, PTHLH
40astrakhan spotted fever9.7PTH, PTHLH
41acquired hyperkeratosis9.7BGLAP, PTH, PTH1R
42cannabis dependence9.7BGLAP, PTHLH
43neuropathy, ataxia, and retinitis pigmentosa9.7GNAS, PTH1R, PTHLH
44congenital generalized lipodystrophy9.6GNAS, PTHLH
45retroperitoneal germ cell neoplasm9.5BGLAP, PTH1R, PTHLH
46survival motor neuron spinal muscular atrophy9.5PTH, PTHLH
47t cell deficiency9.5GNAS, PTH, PTHLH
48lung occult small cell carcinoma9.5BGLAP, PTH
49toenail dystrophy, isolated9.4PTH, PTH1R, PTHLH
50cranial nerve palsy9.4BGLAP, PTH, 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

Human phenotypes related to Pseudohypoparathyroidism, Type Ib:

 63 (show all 8)
id Description HPO Frequency HPO Source Accession
1 brachydactyly syndrome63 rare (5%) HP:0001156
2 obesity63 rare (5%) HP:0001513
3 short metacarpal63 rare (5%) HP:0010049
4 pseudohypoparathyroidism63 HP:0000852
5 hypocalcemia63 HP:0002901
6 hyperphosphatemia63 HP:0002905
7 elevated circulating parathyroid hormone level63 HP:0003165
8 low urinary cyclic amp response to pth administration63 HP:0003456

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 1b26
2 Pseudohypoparathyroidism Ib24 GNAS
3 Pseudohypoparathyroidism Type Ib24 STX16

Anatomical Context for Pseudohypoparathyroidism, Type Ib

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MalaCards organs/tissues related to Pseudohypoparathyroidism, Type Ib:

35
Thyroid, Bone, Kidney, Testes, Skin

Animal Models for Pseudohypoparathyroidism, Type Ib or affiliated genes

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MGI Mouse Phenotypes related to Pseudohypoparathyroidism, Type Ib:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0GNAS, PTH, PTH1R, PTHLH
2MP:00053718.3GNAS, PTH, PTH1R, PTHLH

Publications for Pseudohypoparathyroidism, Type Ib

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Articles related to Pseudohypoparathyroidism, Type Ib:

(show all 44)
idTitleAuthorsYear
1
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding GsI+ Is Associated with Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B). (28084650)
2017
2
Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon? (27121328)
2016
3
Analysis of Multiple Families with Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion. (26479409)
2015
4
Pseudohypoparathyroidism type Ib in 2015. (25910998)
2015
5
Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus. (25710380)
2015
6
Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. (25843330)
2015
7
Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B). (25997889)
2015
8
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
9
TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib). (25403028)
2014
10
Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR. (24438374)
2014
11
Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification. (23095209)
2013
12
Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay. (23132697)
2013
13
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. (22378814)
2012
14
De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases. (23087324)
2012
15
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib. (20972248)
2011
16
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
17
Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib. (20538864)
2010
18
Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib. (20960161)
2010
19
PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib. (18617581)
2008
20
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
21
Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16. (17317779)
2007
22
Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. (17595244)
2007
23
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
24
Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus. (16831926)
2006
25
Klinefelter's syndrome with seizure, pseudohypoparathyroidism type Ib and multiple endocrine dysfunctions. (16379343)
2005
26
Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. (15629959)
2005
27
A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. (15800843)
2005
28
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. (15592469)
2005
29
Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. (15537666)
2005
30
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
31
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. (14561710)
2003
32
Completely skewed X-inactivation in a mentally retarded young female with pseudohypoparathyroidism type IB and juvenile renin-dependent hypertension. (12843141)
2003
33
Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets. (12374764)
2002
34
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
35
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
36
A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. (11067869)
2000
37
Serial changes in bone mineral density and bone turnover after correction of secondary hyperparathyroidism in a patient with pseudohypoparathyroidism type Ib. (10893692)
2000
38
Pseudohypohyperparathyroidism-pseudohypoparathyroidism type Ib. (10352113)
1999
39
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. (9751745)
1998
40
Cloning and characterization of kidney-specific promoter of human PTH/PTHrP receptor gene: absence of mutation in patients with pseudohypoparathyroidism type Ib. (9723884)
1998
41
Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib. (8675577)
1996
42
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
43
Rhabdomyolysis associated with pseudohypoparathyroidism type Ib--a case report]. (8334797)
1993
44
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 DELdeletionPathogenicChr na, -1: -1
2GNASGNAS, 4.7-KB DELdeletionPathogenicChr na, -1: -1
3GNASGNAS, 3-BP DEL, CAT, EXON 13deletionPathogenicChr na, -1: -1
4GNASGNAS, METHYLATION CHANGES, PATERNAL EPIGENOTYPEundetermined variantPathogenicChr na, -1: -1
5STX16STX16, 3-KB TO 4.4-KB MICRODELETIONdeletionPathogenicChr na, -1: -1

Copy number variations for Pseudohypoparathyroidism, Type Ib from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1155272205440000062435964MicrodeletionGNASPseudohypoparathyroidism type Ib
2155273205440000062435964MicrodeletionSTX16Pseudohypoparathyroidism type Ib
3155541205665500056925000MicrodeletionGNASPseudohypoparathyroidism type Ib
4155542205665500056925000MicrodeletionSTX16Pseudohypoparathyroidism type Ib
5155543205665500056925000MicrodeletionSTX16Pseudohypoparathyroidism type Ib
6155547205665973356687988DeletionSTX16Pseudohypoparathyroidism type Ib
7155583205684818956919645DeletionGNASPseudohypoparathyroidism type Ib
8155584205684818956919645DeletionGNASPseudohypoparathyroidism type Ib

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:

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
19.6GNAS, PTH1R
29.5PTH, PTH1R
39.5CGA, GNAS
49.5CGA, GNAS
59.3BGLAP, CGA
68.7PTH, PTH1R, PTHLH
78.4BGLAP, CGA, PTH, PTH1R
8
Show member pathways
8.3GNAS, PTH, PTH1R, PTHLH
97.8BGLAP, GNAS, PTH, PTH1R, PTHLH
107.7CGA, GNAS, PTH, PTH1R, PTHLH
11
Show member pathways
7.7CGA, GNAS, PTH, PTH1R, PTHLH

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 13)
idNameGO IDScoreTop Affiliating Genes
1bone developmentGO:006034810.0BGLAP, GNAS
2bone mineralizationGO:00302829.9BGLAP, PTH1R
3bone resorptionGO:00454539.8PTH, PTH1R
4response to vitamin DGO:00332809.8BGLAP, PTH
5cAMP metabolic processGO:00460589.8PTH, PTHLH
6developmental growthGO:00485899.7CGA, GNAS
7response to nutrient levelsGO:00316679.6BGLAP, PTH
8osteoblast developmentGO:00020769.2BGLAP, PTH1R, PTHLH
9positive regulation of cAMP biosynthetic processGO:00308199.1PTH, PTHLH
10response to drugGO:00424939.1BGLAP, GNAS, PTH
11cell-cell signalingGO:00072678.8CGA, PTH, PTHLH
12skeletal system developmentGO:00015018.4BGLAP, PTH, PTH1R, PTHLH
13adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071898.2GNAS, PTH, PTH1R, PTHLH

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

idNameGO IDScoreTop Affiliating Genes
1peptide hormone receptor bindingGO:00514289.6PTH, PTHLH
2hormone activityGO:00051798.5CGA, PTH, PTHLH

Sources for Pseudohypoparathyroidism, Type Ib

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet