MCID: PSD066
MIFTS: 53

Pseudohypoparathyroidism, Type Ib

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

Aliases & Classifications for Pseudohypoparathyroidism, Type Ib

MalaCards integrated aliases for Pseudohypoparathyroidism, Type Ib:

Name: Pseudohypoparathyroidism, Type Ib 57 55 40 73
Pseudohypoparathyroidism Type 1b 53 59 29 6 73
Php1b 57 53 75
Pseudohypoparathyroidism Ib 57 13
Pseudohypoparathyroidism Type Ib 12
Pseudohypoparathyroidism 1b 75
Php Ib 57

Characteristics:

Orphanet epidemiological data:

59
pseudohypoparathyroidism type 1b
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Childhood,Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
many cases result from de novo mutations
endocrine abnormalities confined to kidney
typically no physical features of albright hereditary osteodystrophy (aho)
features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see )
associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, )
see also pseudohypoparathyroidism type ia (php1a, )


HPO:

32
pseudohypoparathyroidism, type ib:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Pseudohypoparathyroidism, Type Ib

NIH Rare Diseases : 53 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 (hypocalcemia), high blood phosphate levels (hyperphosphatemia), and elevated PTH levels (hyperparathyroidism). Some people with PHP1B also have elevated TSH levels due to TSH resistance. Each of these abnormalities can cause a variety of symptoms, which can be viewed by clicking on the terms above. Severity can vary considerably, even among people in the same family. Symptoms usually begin in childhood due to low calcium levels and may include numbness, seizures, tetany, cataracts, and dental problems. Excessive growth or weight has been described in some newborns or during early infancy and childhood. Some children have skeletal problems, such as reduced bone mineral density and osteitis fibrosa. The inheritance and genetics of PHP1B is complex. PHP1B is usually sporadic (not inherited), but familial cases with autosomal dominant inheritance, from the mother only, have been reported. When the parent from which a gene is inherited affects the way a gene acts, it is called genomic imprinting. PHP1B may be caused by randomly inheriting both copies of the long arm of chromosome 20 from the father rather than a copy from each parent (paternal 20q disomy), genetic mutations or epigenetic changes involving the GNAS or STX16 gene, or by unidentified genetic or epigenetic factors. Treatment is lifelong, aiming to normalize calcium and PTH levels with active vitamin D metabolites such as alfacalcidol or calcitriol, and calcium supplementation.

MalaCards based summary : Pseudohypoparathyroidism, Type Ib, also known as pseudohypoparathyroidism type 1b, is related to albright's hereditary osteodystrophy and secondary hyperparathyroidism of renal origin. An important gene associated with Pseudohypoparathyroidism, Type Ib is STX16 (Syntaxin 16), and among its related pathways/superpathways are Peptide ligand-binding receptors and Presynaptic function of Kainate receptors. Affiliated tissues include thyroid, bone and kidney, and related phenotypes are short neck and nystagmus

OMIM : 57 Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by resistance to parathyroid hormone (PTH; 168450). Pseudohypoparathyroidism type Ib is characterized clinically by isolated renal PTH resistance manifest as hypocalcemia, hyperphosphatemia, and increased serum PTH. Biochemical studies show a decreased response of urinary cAMP to exogenous PTH, but normal Gs activity in erythrocytes because the defect is restricted to renal tubule cells. In contrast to the findings in PHP Ia, patients with PHP Ib usually lack the physical characteristics of Albright hereditary osteodystrophy (AHO) and typically show no other endocrine abnormalities, although resistance to thyroid-stimulating hormone (TSH; 188540) has been reported in PHP Ib (Levine et al., 1983, Heinsimer et al., 1984). However, patients with PHP Ib may rarely show some features of AHO (Mariot et al., 2008). For a general phenotypic description, classification, and a discussion of molecular genetics of pseudohypoparathyroidism, see PHP1A (103580). (603233)

UniProtKB/Swiss-Prot : 75 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

Diseases in the Pseudohypoparathyroidism family:

Pseudohypoparathyroidism, Type Ia Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Type Ib Pseudohypoparathyroidism, Type Ic

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

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 albright's hereditary osteodystrophy 30.7 GNAS STX16
2 secondary hyperparathyroidism of renal origin 29.8 BGLAP PTH
3 hyperparathyroidism 28.5 BGLAP PTH PTHLH
4 pseudohypoparathyroidism 27.0 BGLAP GNAS GNAS-AS1 PTH PTH1R PTHLH
5 multiple enchondromatosis, maffucci type 10.4 GNAS PTH1R
6 osseous heteroplasia, progressive 10.3 BGLAP GNAS
7 osteofibrous dysplasia 10.2 BGLAP GNAS
8 mccune-albright syndrome 10.2 BGLAP GNAS
9 fibrous dysplasia 10.2 BGLAP GNAS
10 chondrodysplasia, blomstrand type 10.2 PTH PTH1R
11 axial osteomalacia 10.1 BGLAP PTH
12 impaired renal function disease 10.0 BGLAP PTH
13 hypophosphatasia, adult 10.0 BGLAP PTH
14 glucocorticoid-induced osteoporosis 10.0 BGLAP PTH
15 ischemic bone disease 10.0 BGLAP PTH
16 juxtacortical osteosarcoma 10.0 GNAS PTHLH
17 clear cell chondrosarcoma 9.9 PTH1R PTHLH
18 renal osteodystrophy 9.9 BGLAP PTH
19 tooth ankylosis 9.9 PTH1R PTHLH
20 peripheral osteosarcoma 9.9 GNAS PTHLH
21 beckwith-wiedemann syndrome 9.9
22 hypogonadotropic hypogonadism 9.9
23 growth hormone deficiency 9.9
24 juxtacortical chondroma 9.9 PTH1R PTHLH
25 pseudopseudohypoparathyroidism 9.9 GNAS PTH STX16
26 phosphorus metabolism disease 9.9 GNAS PTH STX16
27 metal metabolism disorder 9.9 GNAS PTH STX16
28 hyperphosphatemia 9.9 GNAS PTH STX16
29 pyle disease 9.9 PTH1R PTHLH
30 chondroblastoma 9.9 PTH1R PTHLH
31 brittle bone disorder 9.9 BGLAP PTH1R
32 bone resorption disease 9.8 BGLAP PTH
33 bone remodeling disease 9.8 BGLAP PTH
34 chondromyxoid fibroma 9.8 PTH1R PTHLH
35 enchondromatosis, multiple, ollier type 9.8 PTH1R PTHLH
36 hyperthyroidism 9.8 BGLAP CGA GNAS
37 cell type benign neoplasm 9.8 GNAS PTH
38 osteonecrosis 9.8 BGLAP PTH
39 skeletal dysplasias 9.8 PTH1R PTHLH
40 sclerosing hepatic carcinoma 9.7 PTH PTHLH
41 invasive malignant thymoma 9.7 PTH PTHLH
42 hypocalciuric hypercalcemia, familial, type iii 9.7 PTH PTHLH
43 hypophosphatemia 9.7 BGLAP PTH
44 clear cell adenoma 9.7 PTH PTHLH
45 oncogenic osteomalacia 9.7 PTH PTHLH
46 jaw cancer 9.7 PTH PTHLH
47 osteitis fibrosa 9.7 BGLAP GNAS PTH
48 cloacogenic carcinoma 9.6 PTH PTHLH
49 osteomalacia 9.6 BGLAP PTHLH
50 mineral metabolism disease 9.5 PTH 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

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hypocalcemia
hyperphosphatemia
low urinary cyclic amp response to pth administration
elevated serum pth
normal erythrocyte gs activity

Skeletal:
osteitis fibrosa cystica due to elevated parathyroid hormone (pth) (subset of patients)

Endocrine Features:
pseudohypoparathyroidism
renal resistance to pth


Clinical features from OMIM:

603233

Human phenotypes related to Pseudohypoparathyroidism, Type Ib:

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
2 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
3 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
4 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
5 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
6 dyskinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100660
7 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
8 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
9 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
10 irritability 59 32 occasional (7.5%) Occasional (29-5%) HP:0000737
11 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
12 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
13 prolonged qt interval 59 32 occasional (7.5%) Occasional (29-5%) HP:0001657
14 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
15 muscle cramps 59 32 occasional (7.5%) Occasional (29-5%) HP:0003394
16 round face 59 32 frequent (33%) Frequent (79-30%) HP:0000311
17 hypocalcemia 59 32 Very frequent (99-80%) HP:0002901
18 chest pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0100749
19 elevated circulating parathyroid hormone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003165
20 conjunctivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000509
21 hyporeflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001265
22 pseudohypoparathyroidism 59 32 obligate (100%) Obligate (100%) HP:0000852
23 growth hormone deficiency 59 32 very rare (1%) Very rare (<4-1%) HP:0000824
24 hypoplasia of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0006297
25 hyperphosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002905
26 hypocalcemic seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0002199
27 abdominal symptom 59 32 occasional (7.5%) Occasional (29-5%) HP:0011458
28 laryngeal dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012049
29 hypocalcemic tetany 59 32 occasional (7.5%) Occasional (29-5%) HP:0003472
30 low urinary cyclic amp response to pth administration 59 32 hallmark (90%) Very frequent (99-80%) HP:0003456
31 myoclonic spasms 59 32 occasional (7.5%) Occasional (29-5%) HP:0003739
32 pituitary resistance to thyroid hormone 59 32 very rare (1%) Very rare (<4-1%) HP:0008227
33 diaphyseal sclerosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003034
34 cortical subperiosteal resorption of humeral metaphyses 59 32 occasional (7.5%) Occasional (29-5%) HP:0003909
35 increased bone density with cystic changes 59 32 occasional (7.5%) Occasional (29-5%) HP:0005700
36 obesity 32 occasional (7.5%) HP:0001513
37 brachydactyly 32 occasional (7.5%) HP:0001156
38 increased bone mineral density 59 Occasional (29-5%)
39 short metacarpal 32 occasional (7.5%) HP:0010049
40 autoimmune antibody positivity 59 Excluded (0%)
41 ectopic calcification 59 Excluded (0%)
42 calcinosis 59 Excluded (0%)

MGI Mouse Phenotypes related to Pseudohypoparathyroidism, Type Ib:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 GNAS PTH PTH1R PTHLH
2 endocrine/exocrine gland MP:0005379 9.55 CGA GNAS PTH PTH1R PTHLH
3 limbs/digits/tail MP:0005371 9.26 GNAS PTH PTH1R PTHLH
4 skeleton MP:0005390 9.02 GNAS PTH PTH1R PTHLH STX16

Drugs & Therapeutics for Pseudohypoparathyroidism, Type Ib

Search Clinical Trials , NIH Clinical Center for Pseudohypoparathyroidism, Type Ib

Genetic Tests for Pseudohypoparathyroidism, Type Ib

Genetic tests related to Pseudohypoparathyroidism, Type Ib:

# Genetic test Affiliating Genes
1 Pseudohypoparathyroidism Type 1b 29 GNAS GNAS-AS1 STX16

Anatomical Context for Pseudohypoparathyroidism, Type Ib

MalaCards organs/tissues related to Pseudohypoparathyroidism, Type Ib:

41
Thyroid, Bone, Kidney, Pituitary, Skin, Testes, Cortex

Publications for Pseudohypoparathyroidism, Type Ib

Articles related to Pseudohypoparathyroidism, Type Ib:

(show top 50) (show all 70)
# Title Authors Year
1
Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases. ( 29445425 )
2018
2
Pseudohypoparathyroidism type 1B in a patient conceived by in vitro fertilization: another imprinting disorder reported with assisted reproductive technology. ( 29417303 )
2018
3
Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report. ( 28648114 )
2017
4
Pseudohypoparathyroidism type 1B associated with assisted reproductive technology. ( 28902630 )
2017
5
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding GsI+ Is Associated with Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B). ( 28084650 )
2017
6
Bone Mineral Density and Its Serial Changes Are Associated With PTH Levels in Pseudohypoparathyroidism Type 1B Patients. ( 29240265 )
2017
7
Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b. ( 27253667 )
2016
8
Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus. ( 27170606 )
2016
9
Osteosarcoma in a Patient with Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q. ( 27859596 )
2016
10
Cinacalcet as adjunctive therapy in pseudohypoparathyroidism type 1b. ( 26628282 )
2016
11
Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon? ( 27121328 )
2016
12
Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B). ( 25997889 )
2015
13
Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus. ( 25710380 )
2015
14
A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects. ( 26367199 )
2015
15
Pseudohypoparathyroidism type Ib in 2015. ( 25910998 )
2015
16
Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. ( 25843330 )
2015
17
Analysis of Multiple Families with Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion. ( 26479409 )
2015
18
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b. ( 25005734 )
2014
19
Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR. ( 24438374 )
2014
20
TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib). ( 25403028 )
2014
21
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
22
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
23
Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q. ( 23144470 )
2013
24
Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay. ( 23132697 )
2013
25
Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification. ( 23095209 )
2013
26
De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases. ( 23087324 )
2012
27
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. ( 22378814 )
2012
28
Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B. ( 22736772 )
2012
29
Pseudohypoparathyroidism type 1b with hypothyroidism. ( 22962241 )
2012
30
Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis. ( 21062889 )
2011
31
Establishment of diagnosis by bisulfite-treated methylation-specific PCR method and analysis of clinical characteristics of pseudohypoparathyroidism type 1b. ( 21836370 )
2011
32
Madelung-like deformity in pseudohypoparathyroidism type 1b. ( 21752878 )
2011
33
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib. ( 20972248 )
2011
34
Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b. ( 19916794 )
2010
35
Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib. ( 20538864 )
2010
36
Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib. ( 20960161 )
2010
37
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
38
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
39
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
40
PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib. ( 18617581 )
2008
41
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
42
Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16. ( 17317779 )
2007
43
Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. ( 17595244 )
2007
44
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
45
Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus. ( 16831926 )
2006
46
Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. ( 15537666 )
2005
47
Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. ( 15629959 )
2005
48
Klinefelter's syndrome with seizure, pseudohypoparathyroidism type Ib and multiple endocrine dysfunctions. ( 16379343 )
2005
49
A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. ( 15800843 )
2005
50
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. ( 15592469 )
2005

Variations for Pseudohypoparathyroidism, Type Ib

ClinVar genetic disease variations for Pseudohypoparathyroidism, Type Ib:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAS-AS1 GNASAS, 4.7-KB DEL deletion Pathogenic
2 STX16 STX16, 3-KB TO 4.4-KB MICRODELETION deletion Pathogenic
3 GNAS GNAS, 4.7-KB DEL deletion Pathogenic
4 GNAS GNAS, 3-BP DEL, CAT, EXON 13 deletion Pathogenic
5 GNAS GNAS, METHYLATION CHANGES, PATERNAL EPIGENOTYPE undetermined variant Pathogenic
6 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh37 Chromosome 20, 57429520: 57429520
7 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh38 Chromosome 20, 58854465: 58854465
8 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh37 Chromosome 20, 57429775: 57429775
9 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh38 Chromosome 20, 58854720: 58854720

Copy number variations for Pseudohypoparathyroidism, Type Ib from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 155272 20 54400000 62435964 Microdeletion GNAS Pseudohypoparathyroidism type Ib
2 155273 20 54400000 62435964 Microdeletion STX16 Pseudohypoparathyroidism type Ib
3 155541 20 56655000 56925000 Microdeletion GNAS Pseudohypoparathyroidism type Ib
4 155542 20 56655000 56925000 Microdeletion STX16 Pseudohypoparathyroidism type Ib
5 155543 20 56655000 56925000 Microdeletion STX16 Pseudohypoparathyroidism type Ib
6 155547 20 56659733 56687988 Deletion STX16 Pseudohypoparathyroidism type Ib
7 155583 20 56848189 56919645 Deletion GNAS Pseudohypoparathyroidism type Ib
8 155584 20 56848189 56919645 Deletion GNAS Pseudohypoparathyroidism type Ib

Expression for Pseudohypoparathyroidism, Type Ib

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

Pathways for Pseudohypoparathyroidism, Type Ib

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 CGA GNAS PTH PTH1R PTHLH
2
Show member pathways
12.07 GNAS PTH PTH1R PTHLH
3 11.72 CGA GNAS PTH PTH1R PTHLH
4 11.44 BGLAP CGA
5 11.39 PTH PTH1R PTHLH
6 11.38 BGLAP GNAS PTH PTH1R PTHLH
7 11.34 CGA GNAS
8 11.23 CGA GNAS
9 11.21 BGLAP CGA PTH PTH1R
10 11.17 CGA GNAS
11 11.1 GNAS PTH1R
12 10.64 BGLAP PTH PTH1R
13 10.61 BGLAP GNAS PTH PTH1R PTHLH

GO Terms for Pseudohypoparathyroidism, Type Ib

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway GO:0007186 9.85 CGA GNAS PTH PTH1R PTHLH
2 cell-cell signaling GO:0007267 9.72 CGA PTH PTHLH
3 response to drug GO:0042493 9.71 BGLAP GNAS PTH
4 adenylate cyclase-modulating G-protein coupled receptor signaling pathway GO:0007188 9.58 GNAS PTH1R
5 response to nutrient levels GO:0031667 9.57 BGLAP PTH
6 bone development GO:0060348 9.56 BGLAP GNAS
7 developmental growth GO:0048589 9.52 CGA GNAS
8 bone resorption GO:0045453 9.51 PTH PTH1R
9 bone mineralization GO:0030282 9.5 BGLAP PTH1R PTHLH
10 response to vitamin D GO:0033280 9.49 BGLAP PTH
11 negative regulation of chondrocyte differentiation GO:0032331 9.48 PTH PTHLH
12 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.43 PTH PTH1R
13 osteoblast development GO:0002076 9.43 BGLAP PTH1R PTHLH
14 response to parathyroid hormone GO:0071107 9.4 GNAS PTH
15 cAMP metabolic process GO:0046058 9.37 PTH PTHLH
16 obsolete positive regulation of cAMP biosynthetic process GO:0030819 9.33 GNAS PTH PTHLH
17 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.26 GNAS PTH PTH1R PTHLH
18 skeletal system development GO:0001501 9.02 BGLAP GNAS PTH PTH1R PTHLH

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 CGA PTH PTHLH
2 peptide hormone receptor binding GO:0051428 8.62 PTH PTHLH

Sources for Pseudohypoparathyroidism, Type Ib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....