PHP1B
MCID: PSD066
MIFTS: 53

Pseudohypoparathyroidism, Type Ib (PHP1B)

Categories: Blood diseases, Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare 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 Type Ib 12 15
Pseudohypoparathyroidism Ib 57 13
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 pseudohypoparathyroidism. 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. The drugs Theophylline and Benzocaine have been mentioned in the context of this disorder. 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 67)
# Related Disease Score Top Affiliating Genes
1 albright's hereditary osteodystrophy 30.3 GNAS STX16
2 pseudohypoparathyroidism 30.1 BGLAP GNAS GNAS-AS1 PTH PTH1R PTHLH
3 secondary hyperparathyroidism of renal origin 29.9 BGLAP PTH
4 hyperparathyroidism 29.6 BGLAP PTH PTHLH
5 hypothyroidism, congenital, nongoitrous, 1 10.2 GNAS STX16
6 multiple enchondromatosis, maffucci type 10.2 GNAS PTH1R
7 connective tissue benign neoplasm 10.1 GNAS PTH
8 chondrodysplasia, blomstrand type 10.1 PTH PTH1R
9 brachydactyly, type e2 10.1 GNAS PTHLH
10 tooth ankylosis 10.1 PTH1R PTHLH
11 clear cell chondrosarcoma 10.1 PTH1R PTHLH
12 juxtacortical osteosarcoma 10.1 GNAS PTHLH
13 juxtacortical chondroma 10.1 PTH1R PTHLH
14 peripheral osteosarcoma 10.1 GNAS PTHLH
15 chondroblastoma 10.0 PTH1R PTHLH
16 hypocalcemia, autosomal dominant 1 10.0 GNAS PTH
17 beckwith-wiedemann syndrome 10.0
18 hypogonadotropic hypogonadism 10.0
19 growth hormone deficiency 10.0
20 hypothyroidism 10.0
21 sclerosing hepatic carcinoma 10.0 PTH PTHLH
22 invasive malignant thymoma 10.0 PTH PTHLH
23 pseudopseudohypoparathyroidism 10.0 GNAS PTH STX16
24 hypocalciuric hypercalcemia, familial, type iii 10.0 PTH PTHLH
25 phosphorus metabolism disease 10.0 GNAS PTH STX16
26 chondromyxoid fibroma 10.0 PTH1R PTHLH
27 metal metabolism disorder 10.0 GNAS PTH STX16
28 clear cell adenoma 10.0 PTH PTHLH
29 hyperphosphatemia 10.0 GNAS PTH STX16
30 oncogenic osteomalacia 10.0 PTH PTHLH
31 enchondromatosis, multiple, ollier type 10.0 PTH1R PTHLH
32 cloacogenic carcinoma 10.0 PTH PTHLH
33 hypoglycemia 10.0
34 osseous heteroplasia, progressive 10.0 BGLAP GNAS
35 osteofibrous dysplasia 10.0 BGLAP GNAS
36 fibrous dysplasia 10.0 BGLAP GNAS
37 axial osteomalacia 10.0 BGLAP PTH
38 osteomalacia 10.0 BGLAP PTH
39 mineral metabolism disease 10.0 PTH PTHLH
40 mccune-albright syndrome 9.9 BGLAP GNAS
41 impaired renal function disease 9.9 BGLAP PTH
42 hypophosphatasia, adult 9.9 BGLAP PTH
43 cell type benign neoplasm 9.9 GNAS PTH
44 osteoporosis, juvenile 9.9 BGLAP PTH
45 glucocorticoid-induced osteoporosis 9.9 BGLAP PTH
46 ischemic bone disease 9.9 BGLAP PTH
47 multicentric carpotarsal osteolysis syndrome 9.9 BGLAP PTHLH
48 hypercalcemia, infantile, 1 9.9 PTH PTH1R PTHLH
49 renal osteodystrophy 9.9 BGLAP PTH
50 metaphyseal chondrodysplasia, jansen type 9.9 PTH PTH1R 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 myoclonic spasms 59 32 occasional (7.5%) Occasional (29-5%) HP:0003739
23 pseudohypoparathyroidism 59 32 obligate (100%) Obligate (100%) HP:0000852
24 hyperphosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002905
25 growth hormone deficiency 59 32 very rare (1%) Very rare (<4-1%) HP:0000824
26 hypoplasia of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0006297
27 hypocalcemic seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0002199
28 abdominal symptom 59 32 occasional (7.5%) Occasional (29-5%) HP:0011458
29 laryngeal dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012049
30 hypocalcemic tetany 59 32 occasional (7.5%) Occasional (29-5%) HP:0003472
31 low urinary cyclic amp response to pth administration 59 32 hallmark (90%) Very frequent (99-80%) HP:0003456
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%)

Drugs & Therapeutics for Pseudohypoparathyroidism, Type Ib

Drugs for Pseudohypoparathyroidism, Type Ib (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Theophylline Approved Phase 4 58-55-9 2153
2
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
3 tannic acid Approved Phase 4
4 Neurotransmitter Agents Phase 4
5 Anti-Asthmatic Agents Phase 4
6 Vasodilator Agents Phase 4
7 Purinergic P1 Receptor Antagonists Phase 4
8 Phosphodiesterase Inhibitors Phase 4
9 Respiratory System Agents Phase 4
10 Peripheral Nervous System Agents Phase 4
11 Bronchodilator Agents Phase 4
12 Autonomic Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Theophylline in Pseudohypoparathyroidism Not yet recruiting NCT03718403 Phase 4 Theophylline

Search 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, Skin, Eye, Pituitary, Cortex

Publications for Pseudohypoparathyroidism, Type Ib

Articles related to Pseudohypoparathyroidism, Type Ib:

(show top 50) (show all 75)
# Title Authors Year
1
Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases. ( 29445425 )
2018
2
Bone Mineral Density and Its Serial Changes Are Associated With PTH Levels in Pseudohypoparathyroidism Type 1B Patients. ( 29240265 )
2018
3
Pseudohypoparathyroidism type 1B in a patient conceived by in vitro fertilization: another imprinting disorder reported with assisted reproductive technology. ( 29417303 )
2018
4
Severe Hypocalcemia and Extreme Elevation of Serum Creatinkinase in a 16-Year Old Boy with Pseudohypoparathyroidism Type Ib. ( 30216183 )
2018
5
Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report. ( 28648114 )
2017
6
Pseudohypoparathyroidism type 1B associated with assisted reproductive technology. ( 28902630 )
2017
7
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B). ( 28084650 )
2017
8
Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b. ( 27253667 )
2016
9
Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus. ( 27170606 )
2016
10
Osteosarcoma in a Patient with Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q. ( 27859596 )
2016
11
Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia. ( 27882740 )
2016
12
Cinacalcet as adjunctive therapy in pseudohypoparathyroidism type 1b. ( 26628282 )
2016
13
Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon? ( 27121328 )
2016
14
Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B). ( 25997889 )
2015
15
Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus. ( 25710380 )
2015
16
A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects. ( 26367199 )
2015
17
Pseudohypoparathyroidism type Ib in 2015. ( 25910998 )
2015
18
Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. ( 25843330 )
2015
19
Analysis of Multiple Families with Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion. ( 26479409 )
2015
20
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b. ( 25005734 )
2014
21
Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR. ( 24438374 )
2014
22
TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib). ( 25403028 )
2014
23
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
24
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
25
Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q. ( 23144470 )
2013
26
Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay. ( 23132697 )
2013
27
Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification. ( 23095209 )
2013
28
De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases. ( 23087324 )
2012
29
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. ( 22378814 )
2012
30
Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B. ( 22736772 )
2012
31
Pseudohypoparathyroidism type 1b with hypothyroidism. ( 22962241 )
2012
32
Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis. ( 21062889 )
2011
33
Establishment of diagnosis by bisulfite-treated methylation-specific PCR method and analysis of clinical characteristics of pseudohypoparathyroidism type 1b. ( 21836370 )
2011
34
Adult onset pseudohypoparathyroidism type-1b with normal phosphaturic response to exogenous parathyroid hormone. ( 22029008 )
2011
35
Madelung-like deformity in pseudohypoparathyroidism type 1b. ( 21752878 )
2011
36
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib. ( 20972248 )
2011
37
Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib). ( 20965295 )
2011
38
Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b. ( 19916794 )
2010
39
Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib. ( 20538864 )
2010
40
Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib. ( 20960161 )
2010
41
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
42
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
43
Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis. ( 20444925 )
2010
44
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
45
PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib. ( 18617581 )
2008
46
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
47
Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16. ( 17317779 )
2007
48
Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. ( 17595244 )
2007
49
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
50
Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus. ( 16831926 )
2006

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.16 CGA GNAS PTH PTH1R PTHLH
2
Show member pathways
12.07 GNAS PTH PTH1R PTHLH
3 11.72 CGA GNAS PTH PTH1R PTHLH
4 11.39 PTH PTH1R PTHLH
5 11.38 BGLAP GNAS PTH PTH1R PTHLH
6 11.34 CGA GNAS
7 11.21 CGA GNAS
8 11.21 BGLAP CGA PTH PTH1R
9 11.15 CGA GNAS
10 11.1 GNAS PTH1R
11 10.64 BGLAP PTH PTH1R
12 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 16)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.85 CGA GNAS PTH PTH1R PTHLH
2 response to drug GO:0042493 9.7 BGLAP GNAS PTH
3 response to nutrient levels GO:0031667 9.56 BGLAP PTH
4 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.55 GNAS PTH1R
5 bone development GO:0060348 9.54 BGLAP GNAS
6 developmental growth GO:0048589 9.51 CGA GNAS
7 bone resorption GO:0045453 9.49 PTH PTH1R
8 response to vitamin D GO:0033280 9.48 BGLAP PTH
9 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.46 GNAS PTH PTH1R PTHLH
10 negative regulation of chondrocyte differentiation GO:0032331 9.43 PTH PTHLH
11 osteoblast development GO:0002076 9.43 BGLAP PTH1R PTHLH
12 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.4 PTH PTH1R
13 response to parathyroid hormone GO:0071107 9.37 GNAS PTH
14 skeletal system development GO:0001501 9.35 BGLAP GNAS PTH PTH1R PTHLH
15 cAMP metabolic process GO:0046058 9.32 PTH PTHLH
16 bone mineralization GO:0030282 8.92 BGLAP 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
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11 DGIdb
17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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