PHP1B
MCID: PSD066
MIFTS: 51

Pseudohypoparathyroidism, Type Ib (PHP1B) 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

About this section
Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Pseudohypoparathyroidism, Type Ib:

Name: Pseudohypoparathyroidism, Type Ib 52 50 68
Pseudohypoparathyroidism Type 1b 48 54 68
Pseudohypoparathyroidism Ib 52 24 12
Php1b 48 24 70
 
Pseudohypoparathyroidism 1b 70 27
Pseudohypoparathyroidism Type Ib 24
Php 1b 24

Characteristics:

Orphanet epidemiological data:

54
pseudohypoparathyroidism type 1b:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Childhood,Infancy,Neonatal

HPO:

64
pseudohypoparathyroidism, type ib:
Inheritance: autosomal dominant inheritance, sporadic

Classifications:



External Ids:

OMIM52 603233
Orphanet54 ORPHA94089
MESH via Orphanet40 C548075
ICD10 via Orphanet31 E20.1
UMLS via Orphanet69 C2932715
MedGen37 C1864100
MeSH39 D011547

Summaries for Pseudohypoparathyroidism, Type Ib

About this section
OMIM:52 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 inclusion-cell disease, and has symptoms including Array, Array and Array. 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 Ovarian steroidogenesis. Affiliated tissues include thyroid, bone and kidney, and related mouse phenotypes are craniofacial and limbs/digits/tail.

NIH Rare Diseases:48 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:70 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

About this section

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 65)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoparathyroidism10.6
2inclusion-cell disease10.2GNAS, STX16
3acth-independent macronodular adrenal hyperplasia10.1BGLAP, GNAS
4ovarian insufficiency due to fsh resistance10.1BGLAP, GNAS
5eiken syndrome10.1PTH, PTH1R
6hypochondrogenesis10.1BGLAP, PTH
7y chromosome detection10.1BGLAP, PTH
8axial osteomalacia10.1BGLAP, GNAS
9adult ependymoblastoma10.1BGLAP, PTH
10hypophosphatasia, adult10.1BGLAP, PTH
11pharyngitis10.1BGLAP, PTH1R
12prediabetes syndrome10.1BGLAP, PTH
1313q12.3 microdeletion syndrome10.0PTH1R, PTHLH
14acrorenal syndrome10.0BGLAP, PTH
15pes anserinus tendinitis or bursitis10.0BGLAP, PTH
16tinea unguium10.0BGLAP, PTH
17binocular vision disease10.0PTH1R, PTHLH
18chromosomal disease10.0BGLAP, PTH
19gastric antral vascular ectasia10.0GNAS, PTH, STX16
20conventional central osteosarcoma10.0GNAS, PTHLH
21weill-marchesani syndrome10.0GNAS, PTH, STX16
22esophageal leukoplakia10.0GNAS, PTH, STX16
23transverse colon cancer10.0PTH1R, PTHLH
24pterygium, antecubital10.0PTH1R, PTHLH
25primary release disorder of platelets10.0BGLAP, PTHLH
26maroteaux stanescu cousin syndrome10.0BGLAP, PTHLH
27metachronous osteosarcoma of the bone10.0GNAS, PTHLH
28glomangiomyoma10.0BGLAP, CGA, GNAS
29opportunistic bacterial infectious disease10.0BGLAP, PTH
30malignant granular cell myoblastoma10.0PTH, PTHLH
31macrosomia with microphthalmia, lethal10.0PTH1R, PTHLH
32mixed germ cell cancer9.9PTH, PTHLH
33mesenchymal cell neoplasm9.9BGLAP, GNAS, PTH
34opthalmoplegia mental retardation lingua scrotalis9.9PTH, PTHLH
35strabismus9.9PTH, PTHLH
36slti salem syndrome9.9PTH1R, PTHLH
37impotence9.9PTH, PTHLH
38pancreas adenocarcinoma9.9BGLAP, PTH
39ovarian endometrioid cystadenoma9.9PTH, PTHLH
40cowper gland carcinoma9.9PTH, PTHLH
41dysbaric osteonecrosis9.9BGLAP, PTH
42pseudohypoparathyroidism ic9.9GNAS, GNAS-AS1, PTH, STX16
43malignant adult ependymoma9.8BGLAP, PTH1R, PTHLH
44vulvovaginitis9.8BGLAP, PTH1R, PTHLH
45beckwith-wiedemann syndrome9.8
46albright's hereditary osteodystrophy9.8
47hyperparathyroidism9.8
48klinefelter's syndrome9.8
49growth hormone deficiency9.8
50indian tick typhus9.8PTH, PTHLH

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



Diseases related to pseudohypoparathyroidism, type ib

Symptoms & Phenotypes for Pseudohypoparathyroidism, Type Ib

About this section

Symptoms by clinical synopsis from OMIM:

603233

Clinical features from OMIM:

603233

Human phenotypes related to Pseudohypoparathyroidism, Type Ib:

 54 64 (show all 42)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pseudohypoparathyroidism64 54 Obligate (100%) HP:0000852
2 hypocalcemia64 54 Very frequent (99-80%) HP:0002901
3 hyperphosphatemia64 54 Very frequent (99-80%) HP:0002905
4 elevated circulating parathyroid hormone level64 54 Very frequent (99-80%) HP:0003165
5 low urinary cyclic amp response to pth administration64 54 Very frequent (99-80%) HP:0003456
6 full cheeks64 54 Frequent (79-30%) HP:0000293
7 round face64 54 Frequent (79-30%) HP:0000311
8 short neck64 54 Frequent (79-30%) HP:0000470
9 cataract64 54 Frequent (79-30%) HP:0000518
10 nystagmus64 54 Frequent (79-30%) HP:0000639
11 delayed eruption of teeth64 54 Frequent (79-30%) HP:0000684
12 short stature64 54 Frequent (79-30%) HP:0004322
13 depressed nasal bridge64 54 Frequent (79-30%) HP:0005280
14 hypoplasia of dental enamel64 54 Frequent (79-30%) HP:0006297
15 conjunctivitis64 54 Occasional (29-5%) HP:0000509
16 depression64 54 Occasional (29-5%) HP:0000716
17 irritability64 54 Occasional (29-5%) HP:0000737
18 anxiety64 54 Occasional (29-5%) HP:0000739
19 hyporeflexia64 54 Occasional (29-5%) HP:0001265
20 prolonged qt interval64 54 Occasional (29-5%) HP:0001657
21 dyspnea64 54 Occasional (29-5%) HP:0002094
22 diaphyseal sclerosis64 54 Occasional (29-5%) HP:0003034
23 muscle cramps64 54 Occasional (29-5%) HP:0003394
24 paresthesia64 54 Occasional (29-5%) HP:0003401
25 hypocalcemic tetany64 54 Occasional (29-5%) HP:0003472
26 myoclonic spasms64 54 Occasional (29-5%) HP:0003739
27 cortical subperiosteal resorption of humeral metaphyses64 54 Occasional (29-5%) HP:0003909
28 increased bone density with cystic changes64 54 Occasional (29-5%) HP:0005700
29 increased bone mineral density54 Occasional (29-5%)
30 abdominal symptom64 54 Occasional (29-5%) HP:0011458
31 laryngeal dystonia64 54 Occasional (29-5%) HP:0012049
32 dyskinesia64 54 Occasional (29-5%) HP:0100660
33 chest pain64 54 Occasional (29-5%) HP:0100749
34 growth hormone deficiency64 54 Very rare (<4-1%) HP:0000824
35 hypocalcemic seizures64 54 Very rare (<4-1%) HP:0002199
36 pituitary resistance to thyroid hormone64 54 Very rare (<4-1%) HP:0008227
37 calcinosis54 Excluded (0%)
38 ectopic calcification54 Excluded (0%)
39 autoimmune antibody positivity54 Excluded (0%)
40 brachydactyly syndrome64 HP:0001156
41 obesity64 HP:0001513
42 short metacarpal64 HP:0010049

MGI Mouse Phenotypes related to Pseudohypoparathyroidism, Type Ib according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9GNAS, PTH, PTH1R, PTHLH
2MP:00053718.2GNAS, PTH, PTH1R, PTHLH

Drugs & Therapeutics for Pseudohypoparathyroidism, Type Ib

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pseudohypoparathyroidism, Type Ib

Genetic Tests for Pseudohypoparathyroidism, Type Ib

About this section

Genetic tests related to Pseudohypoparathyroidism, Type Ib:

id Genetic test Affiliating Genes
1 Pseudohypoparathyroidism Type 1b27
2 Pseudohypoparathyroidism Ib24 GNAS
3 Pseudohypoparathyroidism Type Ib24 STX16

Anatomical Context for Pseudohypoparathyroidism, Type Ib

About this section

MalaCards organs/tissues related to Pseudohypoparathyroidism, Type Ib:

36
Thyroid, Bone, Kidney, Pituitary, Skin, Testes

Publications for Pseudohypoparathyroidism, Type Ib

About this section

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
Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B). (25997889)
2015
4
Pseudohypoparathyroidism type Ib in 2015. (25910998)
2015
5
Analysis of Multiple Families with Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion. (26479409)
2015
6
Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. (25843330)
2015
7
Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus. (25710380)
2015
8
Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR. (24438374)
2014
9
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
10
TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib). (25403028)
2014
11
Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay. (23132697)
2013
12
Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification. (23095209)
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
Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib. (20538864)
2010
17
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
18
Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib. (20960161)
2010
19
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
20
PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib. (18617581)
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
Serial changes in bone mineral density and bone turnover after correction of secondary hyperparathyroidism in a patient with pseudohypoparathyroidism type Ib. (10893692)
2000
37
A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. (11067869)
2000
38
Pseudohypohyperparathyroidism-pseudohypoparathyroidism type Ib. (10352113)
1999
39
Cloning and characterization of kidney-specific promoter of human PTH/PTHrP receptor gene: absence of mutation in patients with pseudohypoparathyroidism type Ib. (9723884)
1998
40
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. (9751745)
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

About this section

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

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

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

Pathways for genes affiliated with Pseudohypoparathyroidism, Type Ib

About this section

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

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
19.6GNAS, PTH1R
29.6CGA, GNAS
39.6CGA, GNAS
49.6CGA, GNAS
58.9BGLAP, PTH, PTH1R
68.6PTH, PTH1R, PTHLH
78.4BGLAP, CGA, PTH, PTH1R
8
Show member pathways
8.2GNAS, PTH, PTH1R, PTHLH
9
Show member pathways
7.7CGA, GNAS, PTH, PTH1R, PTHLH
107.7CGA, GNAS, PTH, PTH1R, PTHLH
117.7BGLAP, GNAS, PTH, PTH1R, PTHLH

GO Terms for genes affiliated with Pseudohypoparathyroidism, Type Ib

About this section

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1bone developmentGO:006034810.3BGLAP, GNAS
2developmental growthGO:004858910.3CGA, GNAS
3bone mineralizationGO:003028210.2BGLAP, PTH1R
4bone resorptionGO:004545310.1PTH, PTH1R
5positive regulation of inositol phosphate biosynthetic processGO:006073210.1PTH, PTH1R
6response to parathyroid hormoneGO:007110710.1GNAS, PTH
7response to nutrient levelsGO:00316679.9BGLAP, PTH
8response to vitamin DGO:00332809.9BGLAP, PTH
9cAMP metabolic processGO:00460589.7PTH, PTHLH
10negative regulation of chondrocyte differentiationGO:00323319.7PTH, PTHLH
11response to drugGO:00424939.6BGLAP, GNAS, PTH
12osteoblast developmentGO:00020769.3BGLAP, PTH1R, PTHLH
13positive regulation of cAMP biosynthetic processGO:00308199.3GNAS, PTH, PTHLH
14cell-cell signalingGO:00072679.2CGA, PTH, PTHLH
15adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071898.9GNAS, PTH, PTH1R, PTHLH
16skeletal system developmentGO:00015017.7BGLAP, 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
2hormone activityGO:00051798.8CGA, PTH, PTHLH

Sources for Pseudohypoparathyroidism, Type Ib

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet