MCID: PSD015
MIFTS: 56

Pseudohypoparathyroidism

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

MalaCards integrated aliases for Pseudohypoparathyroidism:

Name: Pseudohypoparathyroidism 12 74 52 58 36 29 54 6 15 71 32

Characteristics:

Orphanet epidemiological data:

58
pseudohypoparathyroidism
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Italy),1-9/1000000 (Japan),1-9/1000000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare renal diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:4184
KEGG 36 H00244
NCIt 49 C99027
SNOMED-CT 67 58976002
ICD10 32 E20.1
MESH via Orphanet 44 D011547
ICD10 via Orphanet 33 E20.1
UMLS via Orphanet 72 C0033806
Orphanet 58 ORPHA97593
UMLS 71 C0033806

Summaries for Pseudohypoparathyroidism

NIH Rare Diseases : 52 Pseudohypoparathyroidism is a genetic disorder in which the body is unable to respond to parathyroid hormone . Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood. Hypoparathyroidism is a similar condition in which the body does not make enough parathyroid hormone instead of not being able to respond to it (as in pseudohypoparathyroidism). The symptoms of these two conditions are similar and are caused by low calcium levels and high phosphate levels in the blood. This may cause cataracts (clouding of the lens of the eye), dental problems, numbness, seizures , or tetany (muscle twitches and hand and foot spasms). These symptoms are usually first seen in childhood. There are two different types of pseudohypoparathyroidism, both of which are caused by spelling mistakes (mutations ) in certain genes . Type 1 can be further divided into three sub-types. Click on the links below for more information on the various types of pseudohypoparathyroidism. Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 2

MalaCards based summary : Pseudohypoparathyroidism is related to pseudohypoparathyroidism, type ic and pseudohypoparathyroidism, type ib, and has symptoms including seizures An important gene associated with Pseudohypoparathyroidism is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are SNARE interactions in vesicular transport and Signaling by GPCR. The drugs Theophylline and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

KEGG : 36 Pseudohypoparathyroidism refers to a heterogeneous group of autosomal dominant disorders characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone. The disease phenotype of type Ia is characterized by Albright hereditary osteodystrophy (AHO) and resistance PTH and many other hormones, while that of type Ib shows hypothyroidism due to resistance to TSH restricted to renal tubule cells.

Wikipedia : 74 Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone.... more...

Related Diseases for Pseudohypoparathyroidism

Diseases in the Pseudohypoparathyroidism family:

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

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

(show top 50) (show all 383)
# Related Disease Score Top Affiliating Genes
1 pseudohypoparathyroidism, type ic 35.0 MC4R GNAS
2 pseudohypoparathyroidism, type ib 34.1 STX16 PTHLH PTH1R PTH GNAS-AS1 GNAS
3 pseudopseudohypoparathyroidism 33.4 STX16 PTHLH PTH PRKAR1A PDE4D GNAS-AS1
4 pseudohypoparathyroidism, type ia 32.4 TRH STX16 PTHLH PTH1R PTH PRL
5 osseous heteroplasia, progressive 32.2 STX16 PTH PRKAR1A GNAS-AS1 GNAS BGLAP
6 acrodysostosis 32.0 STX16 PTHLH PTH1R PTH PRKAR1A PDE4D
7 disorders of gnas inactivation 31.6 STX16 GNAS-AS1 GNAS
8 hyperphosphatemia 31.5 STX16 PTH GNAS BGLAP
9 secondary hyperparathyroidism 30.5 PTH1R PTH CALCA BGLAP
10 hypothyroidism, congenital, nongoitrous, 1 30.5 STX16 PTH PRKAR1A PDE4D GNAS-AS1 GNAS
11 osteitis fibrosa 30.4 PTH GNAS CALCA BGLAP
12 acrodysostosis with multiple hormone resistance 30.4 PRKAR1A PDE4D
13 chromosome 2q37 deletion syndrome 30.4 STX16 PTH GNAS-AS1 GNAS
14 beckwith-wiedemann syndrome 30.3 PRKAR1A IGF1 GNAS-AS1 GNAS
15 osteomalacia 30.2 PTHLH PTH CALCA BGLAP
16 hypoparathyroidism 30.2 PTHLH PTH1R PTH PRKAR1A IGF1 GNAS
17 hyperparathyroidism 30.0 PTHLH PTH1R PTH PRKAR1A IGF1 CALCA
18 leptin deficiency or dysfunction 30.0 TRH MC4R LEP IGF1
19 bone disease 29.9 PTHLH PTH1R PTH IGF1 CALCA BGLAP
20 congenital hypothyroidism 29.8 PRL IGF1 GNAS
21 empty sella syndrome 29.8 TRH PRL IGF1
22 brachydactyly 29.8 TRPS1 STX16 REN PTHLH PTH PRKAR1A
23 turner syndrome 29.8 PRL LEP IGF1 BGLAP
24 sleep apnea 29.7 REN LEP IGF1
25 diabetes insipidus 29.7 REN PRL CALCA
26 thyroiditis 29.7 TRH PRL CALCA
27 osteogenic sarcoma 29.6 PTHLH PTH1R PTH IGF1 BGLAP
28 renal osteodystrophy 29.6 PTH1R PTH CALCA BGLAP
29 hypocalcemia, autosomal dominant 1 29.4 PTHLH PTH PRKAR1A GNAS CALCA BGLAP
30 amenorrhea 29.3 TRH PRL LEP IGF1 BGLAP
31 hypopituitarism 29.3 TRH PRL LEP IGF1 BGLAP
32 hyperprolactinemia 29.2 TRH PTHLH PTH PRL IGF1 GNAS
33 primary hyperparathyroidism 29.2 PTHLH PTH1R PTH PRL PRKAR1A IGF1
34 goiter 29.1 TRH PRL IGF1 GNAS CALCA BGLAP
35 bone resorption disease 29.1 PTHLH PTH1R PTH LEP IGF1 CALCA
36 prader-willi syndrome 29.0 TRH PRL MC4R LEP IGF1
37 mccune-albright syndrome 29.0 PTHLH PRL PRKAR1A LEP IGF1 GNAS
38 parathyroid adenoma 28.8 PTHLH PTH PRKAR1A IGF1 GNAS CALCA
39 ovarian disease 28.8 REN PRL LEP IGF1
40 body mass index quantitative trait locus 11 28.8 TRH REN PTH PRL MC4R LEP
41 hypothyroidism 28.5 TRH REN PRL PDE4D LEP IGF1
42 hypertension, essential 28.1 REN PTH PRL MC4R LEP IGF1
43 hyperthyroidism 28.0 TRH PTH PRL LEP IGF1 GNAS
44 diabetes mellitus 27.9 REN PTH PRL MC4R LEP IGF1
45 osteoporosis 27.7 PTHLH PTH1R PTH PRL PRKAR1A LEP
46 conn's syndrome 27.4 TRH REN PRL PRKAR1A LEP IGF1
47 pseudohypoparathyroidism, type ii 12.8
48 pseudohypoparathyroidism without albright hereditary osteodystrophy 12.2
49 basal ganglia calcification, idiopathic, childhood-onset 11.2
50 rickets 10.5

Graphical network of the top 20 diseases related to Pseudohypoparathyroidism:



Diseases related to Pseudohypoparathyroidism

Symptoms & Phenotypes for Pseudohypoparathyroidism

UMLS symptoms related to Pseudohypoparathyroidism:


seizures

GenomeRNAi Phenotypes related to Pseudohypoparathyroidism according to GeneCards Suite gene sharing:

26 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.8 BGLAP
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.8 IGF1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.8 BGLAP TRPS1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.8 PRKAR1A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.8 BGLAP
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.8 IGF1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.8 IGF1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.8 BGLAP
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.8 IGF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.8 IGF1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.8 BGLAP IGF1 TRPS1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.8 BGLAP
13 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.8 BGLAP
14 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.8 IGF1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.8 TRPS1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.8 BGLAP
17 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.8 BGLAP
18 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.8 TRPS1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-193 9.8 IGF1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.8 PRKAR1A
21 Increased shRNA abundance (Z-score > 2) GR00366-A-206 9.8 TRPS1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.8 TRPS1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.8 IGF1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.8 IGF1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.8 TRPS1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.8 TRPS1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.8 IGF1

MGI Mouse Phenotypes related to Pseudohypoparathyroidism:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.36 APC GNAL GNAS LEP MC4R PRKAR1A
2 growth/size/body region MP:0005378 10.34 APC GNAL GNAS IGF1 LEP MC4R
3 cardiovascular system MP:0005385 10.31 ADCY10 APC GNAS IGF1 LEP MC4R
4 homeostasis/metabolism MP:0005376 10.3 ADCY10 APC BGLAP GNAS IGF1 LEP
5 endocrine/exocrine gland MP:0005379 10.25 APC BGLAP GNAS IGF1 LEP PRKAR1A
6 immune system MP:0005387 10.25 APC BGLAP GNAS IGF1 LEP MC4R
7 hematopoietic system MP:0005397 10.22 APC BGLAP GNAS IGF1 LEP MC4R
8 adipose tissue MP:0005375 10.21 APC BGLAP GNAS IGF1 LEP MC4R
9 craniofacial MP:0005382 10.07 APC GNAS PRKAR1A PTH PTH1R PTHLH
10 liver/biliary system MP:0005370 9.97 APC GNAS LEP MC4R PRKAR1A PRL
11 neoplasm MP:0002006 9.97 APC GNAS IGF1 LEP MC4R PRKAR1A
12 limbs/digits/tail MP:0005371 9.95 APC GNAS IGF1 LEP PTH PTH1R
13 renal/urinary system MP:0005367 9.86 APC GNAS IGF1 LEP PTHLH REN
14 reproductive system MP:0005389 9.85 ADCY10 APC BGLAP IGF1 LEP MC4R
15 respiratory system MP:0005388 9.56 GNAS IGF1 LEP MC4R PRKAR1A PTH1R
16 skeleton MP:0005390 9.44 APC BGLAP GNAS IGF1 LEP MC4R

Drugs & Therapeutics for Pseudohypoparathyroidism

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Theophylline Approved Phase 4 58-55-9 2153
2
tannic acid Approved Phase 4 1401-55-4
3
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
4 Respiratory System Agents Phase 4
5 Phosphodiesterase Inhibitors Phase 4
6 Anti-Asthmatic Agents Phase 4
7 Vasodilator Agents Phase 4
8 Bronchodilator Agents Phase 4
9 Neurotransmitter Agents Phase 4
10
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
11
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
12
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
13
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
14 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
15
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
16
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
17 Pharmaceutical Solutions Phase 2
18 Anti-Infective Agents Phase 2
19 Antitubercular Agents Phase 2
20 Antidotes Phase 2
21 Chelating Agents Phase 2
22 Antioxidants Phase 2
23 Methylprednisolone Acetate Phase 2
24 Anti-Bacterial Agents Phase 2
25 Protective Agents Phase 2
26 sodium thiosulfate Phase 2
27
Parathyroid hormone Approved, Investigational 9002-64-6
28
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
29 Mitogens
30 Hormones
31 Vitamins
32 Calciferol

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Effect of Theophylline in Pseudohypoparathyroidism Not yet recruiting NCT03718403 Phase 4 Theophylline
2 Effects of Theophylline on cAMP Signaling in Children With Pseudohypoparathyroidism Type 1a Completed NCT02463409 Phase 2 Theophylline
3 Phase 2 Study of Theophylline Treatment for Pseudohypoparathyroidism Recruiting NCT03029429 Phase 2 Theophylline;Placebos
4 Efficacy of Sodium Thiosulfate in Shoulder Pain in Calcific Tendinitis of the Rotator Cuff Recruiting NCT04251832 Phase 2 Sodium Thiosulfate
5 Open-Label Extension Study of Theophylline for Treatment of Pseudohypoparathyroidism Enrolling by invitation NCT04240821 Phase 2 Theophylline ER
6 Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia) Unknown status NCT00497484 recombinant human somatotropin
7 Study of the Regulation of Parathyroid Hormone Secretion in Pseudohypoparathyroidism Completed NCT00004661
8 Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism Completed NCT02411461
9 Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism in Denmark - Epidemiology, Causes, Symptoms and Prognoses Completed NCT01498341
10 Studies in Phosphorus Metabolism Completed NCT00066183
11 Physiologic Regulation of FGF-23 Completed NCT00356512
12 Natural History Study of Albright Hereditary Osteodystrophy: Includes Substudies on Effects of Growth Hormone in Patients With Pseudohypoparathyroidism Type 1a and Cognitive & Behavioral Studies in Albright Hereditary Osteodystrophy Recruiting NCT00209235
13 Studies of States With Resistance to Vitamin D and Parathyroid Hormone Recruiting NCT00001242
14 Family Studies in Metabolic Diseases and Mineral Metabolism Recruiting NCT00001345
15 Glucose Homeostasis and Beta Cell Function in Pseudohypoparathyroidism Active, not recruiting NCT03761290
16 Characterization of Patients With Idiopathic Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism Active, not recruiting NCT02551120
17 Altered Resting Energy Expenditure as a Cause of Obesity in Pseudohypoparathyroidism 1a: A Pilot Study Terminated NCT01398774

Search NIH Clinical Center for Pseudohypoparathyroidism

Genetic Tests for Pseudohypoparathyroidism

Genetic tests related to Pseudohypoparathyroidism:

# Genetic test Affiliating Genes
1 Pseudohypoparathyroidism 29 GNAS

Anatomical Context for Pseudohypoparathyroidism

MalaCards organs/tissues related to Pseudohypoparathyroidism:

40
Bone, Eye, Testes, Thyroid, Brain, Kidney, Skin

Publications for Pseudohypoparathyroidism

Articles related to Pseudohypoparathyroidism:

(show top 50) (show all 1390)
# Title Authors PMID Year
1
Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a. 52 61
16675931 2006
2
Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation. 61 54
19863504 2010
3
Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia. 61 54
19658058 2010
4
Identification of a novel GNAS mutation for pseudohypoparathyroidism in a Chinese family. 54 61
19381884 2009
5
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding. 54 61
19530187 2009
6
Pseudohypoparathyroidism type IA (PHP-Ia): maternally inherited GNAS gene mutation. 54 61
19449667 2009
7
New mutation type in pseudohypoparathyroidism type Ia. 61 54
18394017 2008
8
Preimplantation genetic diagnosis for severe albright hereditary osteodystrophy. 54 61
18089698 2008
9
Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha. 61 54
17803690 2008
10
[GNAS1 gene abnormality in pseudohypoparathyroidism I a]. 54 61
17660618 2007
11
A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency. 61 54
17299070 2007
12
Pseudohypoparathyroidism type 1a with congenital hypothyroidism. 54 61
16995592 2006
13
Genetics of pseudohypoparathyroidism types Ia and Ic. 54 61
16789628 2006
14
Multihormonal resistance to parathyroid hormone, thyroid stimulating hormone, and other hormonal and neurosensory stimuli in patients with pseudohypoparathyroidism. 61 54
16789631 2006
15
Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3',5'-monophosphate formation mediated by human XLalphas. 61 54
16484323 2006
16
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene. 61 54
15817905 2005
17
Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1. 54 61
16116826 2005
18
Minireview: GNAS: normal and abnormal functions. 61 54
15331575 2004
19
Biallelic expression of the Gsalpha gene in human bone and adipose tissue. 61 54
15579796 2004
20
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. 61 54
15070926 2004
21
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. 54 61
12970262 2003
22
The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. 54 61
12970307 2003
23
Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. 54 61
12621129 2003
24
Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA. 54 61
12624854 2003
25
The pseudohypoparathyroidism type lb locus is linked to a region including GNAS1 at 20q13.3. 61 54
12619926 2003
26
Pubertal development in patients with McCune-Albright syndrome or pseudohypoparathyroidism. 61 54
12729407 2003
27
Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets. 61 54
12374764 2002
28
Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a. 61 54
11926205 2002
29
[PTH/PTHrP receptor and pseudohypoparathyroidism]. 61 54
11857923 2002
30
GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. 61 54
11788646 2002
31
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. 54 61
11600516 2001
32
Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. 54 61
11588148 2001
33
Clinical evaluation of the Elecsys beta-CrossLaps serum assay, a new assay for degradation products of type I collagen C-tlopeptides. 61 54
11468230 2001
34
[Albright hereditary osteodystrophy: identification of a novel mutation in a family]. 61 54
11412411 2001
35
Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism. 54 61
11294659 2001
36
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. 61 54
11029463 2001
37
Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. 54 61
11200992 2001
38
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. 54 61
11450852 2001
39
Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. 54 61
11095461 2000
40
Pseudohypoparathyroidism 1b: exclusion of parathyroid hormone and its receptors as candidate disease genes. 54 61
10852457 2000
41
G protein defects in signal transduction. 61 54
10971097 2000
42
[Pseudohypoparathyroidism and the concept of hormonal resistance. Types Ia and Ic and pseudohypoparathyroidism]. 54 61
10518972 1999
43
Human parathyroid hormone (1-34) increases urinary excretion of lysosomal enzymes in rats. 54 61
10576551 1999
44
Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. 54 61
9860993 1998
45
GNAS1 mutational analysis in pseudohypoparathyroidism. 61 54
9876352 1998
46
The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. 61 54
9707596 1998
47
Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation. 61 54
9600732 1998
48
A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies: normal Gs alpha gene and chromosome 2q37. 61 54
9589656 1998
49
Deletion of chromosome 22q11 and pseudohypoparathyroidism. 54 61
9295077 1997
50
[Primary hypothyroidism revealing pseudohypoparathyroidism without hypocalcemia and hyperphosphoremia]. 61 54
9230993 1997

Variations for Pseudohypoparathyroidism

ClinVar genetic disease variations for Pseudohypoparathyroidism:

6 (show all 31) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNAS NM_001077488.4(GNAS):c.280C>T (p.Gln94Ter)SNV Pathogenic 635558 20:57478605-57478605 20:58903550-58903550
2 GNAS NM_001077488.4(GNAS):c.274A>T (p.Lys92Ter)SNV Pathogenic 691981 20:57478599-57478599 20:58903544-58903544
3 GNAS NM_001077488.4(GNAS):c.842+1G>CSNV Pathogenic 15928 20:57484860-57484860 20:58909805-58909805
4 GNAS NM_001077488.4(GNAS):c.728del (p.Thr243fs)deletion Pathogenic 15929 20:57484745-57484745 20:58909690-58909690
5 GNAS GNAS, IVS3AS, A-G, -12SNV Pathogenic 15930
6 GNAS NM_001077488.4(GNAS):c.299T>C (p.Leu100Pro)SNV Pathogenic 15931 rs137854531 20:57478624-57478624 20:58903569-58903569
7 GNAS NM_001077488.4(GNAS):c.496C>T (p.Arg166Cys)SNV Pathogenic 15932 rs137854532 20:57480498-57480498 20:58905443-58905443
8 GNAS NM_001077488.4(GNAS):c.568_571del (p.Asp190fs)deletion Pathogenic 15938 rs587776829 20:57484249-57484252 20:58909194-58909197
9 GNAS NM_001077488.4(GNAS):c.753C>G (p.Ser251Arg)SNV Pathogenic 15939 rs137854534 20:57484770-57484770 20:58909715-58909715
10 GNAS GNAS, 38-BP DEL, EX1/IVS1 BOUNDARYdeletion Pathogenic 15940
11 GNAS NM_001077488.4(GNAS):c.695G>A (p.Arg232His)SNV Pathogenic 15946 rs137854538 20:57484608-57484608 20:58909553-58909553
12 GNAS GNAS, 2-BP DEL, GA, EXON 8deletion Pathogenic 15947
13 GNAS GNAS, 2-BP DEL, CT, EXON 4deletion Pathogenic 15948
14 GNAS GNAS, 1-BP DEL, 348Cdeletion Pathogenic 15949
15 GNAS GNAS, 1-BP DEL, C, EXON 1deletion Pathogenic 15950
16 GNAS GNAS, 2-BP DEL, TG, EXON 11deletion Pathogenic 15951
17 GNAS GNAS, 1-BP INS, A, EXON 3insertion Pathogenic 15957
18 GNAS GNAS, 12-BP INS, NT1107insertion Pathogenic 15958
19 GNAS NM_001077488.4(GNAS):c.34C>T (p.Gln12Ter)SNV Pathogenic 209158 rs797045046 20:57466815-57466815 20:58891760-58891760
20 GNAS NM_001077488.4(GNAS):c.533+1G>TSNV Pathogenic 816649 20:57480536-57480536 20:58905481-58905481
21 GNAS NM_001077488.4(GNAS):c.694C>T (p.Arg232Cys)SNV Pathogenic 816910 20:57484607-57484607 20:58909552-58909552
22 GNAS NM_001077488.4(GNAS):c.85C>T (p.Gln29Ter)SNV Pathogenic 374113 rs1057518907 20:57466866-57466866 20:58891811-58891811
23 GNAS NM_001077488.4(GNAS):c.1A>G (p.Met1Val)SNV Pathogenic/Likely pathogenic 15927 rs137854530 20:57466782-57466782 20:58891727-58891727
24 GNAS NM_001077488.4(GNAS):c.883C>T (p.Gln295Ter)SNV Likely pathogenic 216937 rs863224876 20:57485046-57485046 20:58909991-58909991
25 GNAS NM_001077488.4(GNAS):c.347C>T (p.Pro116Leu)SNV Likely pathogenic 15953 rs137854539 20:57478758-57478758 20:58903703-58903703
26 GNAS NM_080425.3(GNAS):c.475G>A (p.Glu159Lys)SNV Likely pathogenic 431104 rs1135401777 20:57428795-57428795 20:58853740-58853740
27 GNAS NM_001077488.4(GNAS):c.315+36C>TSNV Uncertain significance 816648 rs200066108 20:57478676-57478676 20:58903621-58903621
28 GNAS NM_001077488.4(GNAS):c.137T>G (p.Leu46Arg)SNV Uncertain significance 689463 20:57466918-57466918 20:58891863-58891863
29 GNAS NM_080425.3(GNAS):c.1200C>A (p.Ala400=)SNV Uncertain significance 417934 rs908810796 20:57429520-57429520 20:58854465-58854465
30 GNAS NM_080425.3(GNAS):c.1455C>A (p.Ala485=)SNV Benign 417936 rs55890501 20:57429775-57429775 20:58854720-58854720
31 GNAS NM_001077488.4(GNAS):c.369C>T (p.Pro123=)SNV Benign 729218 rs35287986 20:57478780-57478780 20:58903725-58903725

Copy number variations for Pseudohypoparathyroidism from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 155546 20 56659733 56687988 Deletion STX16 Pseudohypoparathyroidism
2 155582 20 56848189 56919645 Deletion GNAS Pseudohypoparathyroidism

Expression for Pseudohypoparathyroidism

Search GEO for disease gene expression data for Pseudohypoparathyroidism.

Pathways for Pseudohypoparathyroidism

Pathways related to Pseudohypoparathyroidism according to KEGG:

36
# Name Kegg Source Accession
1 SNARE interactions in vesicular transport hsa04130

Pathways related to Pseudohypoparathyroidism according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14 TRH PTHLH PTH1R PTH PRKAR1A PDE4D
2
Show member pathways
13.45 TRH PTHLH PTH1R PTH PRL MC4R
3
Show member pathways
12.27 PTHLH PTH1R PTH GNAS CALCA
4
Show member pathways
12.06 PRKAR1A LEP GNAS GNAL
5 11.71 PTH LEP IGF1 BGLAP
6
Show member pathways
11.69 PRKAR1A PDE4D GNAS
7 11.66 PRKAR1A PDE4D GNAS
8 11.66 PTHLH PTH1R PTH PDE4D GNAS BGLAP
9 11.66 PTHLH PTH1R PTH PDE4D MC4R GNAS
10 11.48 PTHLH PTH1R PTH IGF1
11 11.44 PTH1R PTH GNAS
12 11.31 PTH1R PTH IGF1 CALCA BGLAP
13 11.2 GNAS CALCA ADCY10
14 10.88 PRL MC4R LEP
15 10.69 PTHLH PTH1R PTH PRKAR1A GNAS BGLAP
16 10.64 PTH1R PTH BGLAP

GO Terms for Pseudohypoparathyroidism

Cellular components related to Pseudohypoparathyroidism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 REN PTHLH PTH PRL LEP IGF1
2 extracellular region GO:0005576 9.36 TRH REN PTHLH PTH PRL LEP

Biological processes related to Pseudohypoparathyroidism according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.16 TRH PTHLH PTH1R PRL PDE4D MC4R
2 positive regulation of cell proliferation GO:0008284 10 PTHLH PTH1R PRL LEP IGF1
3 cell-cell signaling GO:0007267 9.89 TRH PTHLH PTH CALCA
4 aging GO:0007568 9.84 PTH1R PDE4D CALCA BGLAP
5 G protein-coupled receptor signaling pathway GO:0007186 9.81 TRH PTHLH PTH1R PTH PDE4D MC4R
6 cellular calcium ion homeostasis GO:0006874 9.79 PTH1R PTH CALCA
7 positive regulation of cold-induced thermogenesis GO:0120162 9.78 LEP GNAS APC
8 female pregnancy GO:0007565 9.73 PTHLH PRL LEP GNAS
9 regulation of blood pressure GO:0008217 9.72 REN LEP CALCA
10 bone mineralization GO:0030282 9.67 PTHLH PTH1R BGLAP
11 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.67 PTH1R MC4R GNAS GNAL
12 response to nutrient levels GO:0031667 9.62 PTH PRL LEP BGLAP
13 regulation of chondrocyte differentiation GO:0032330 9.58 TRPS1 PTHLH
14 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 9.58 GNAS GNAL
15 osteoblast development GO:0002076 9.58 PTHLH PTH1R BGLAP
16 sensory perception of chemical stimulus GO:0007606 9.57 GNAS GNAL
17 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.56 PTH1R PTH
18 bone mineralization involved in bone maturation GO:0035630 9.52 LEP IGF1
19 response to parathyroid hormone GO:0071107 9.51 PTH GNAS
20 skeletal system development GO:0001501 9.5 TRPS1 PTHLH PTH1R PTH IGF1 GNAS
21 cAMP metabolic process GO:0046058 9.48 PTHLH PTH
22 energy reserve metabolic process GO:0006112 9.43 MC4R LEP GNAS
23 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.17 PTHLH PTH1R PTH MC4R GNAS GNAL

Molecular functions related to Pseudohypoparathyroidism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor receptor binding GO:0005159 9.33 REN IGF1 GNAS
2 beta-2 adrenergic receptor binding GO:0031698 9.26 PDE4D GNAS
3 hormone activity GO:0005179 9.17 TRH PTHLH PTH PRL LEP IGF1
4 peptide hormone receptor binding GO:0051428 9.13 PTHLH PTH LEP

Sources for Pseudohypoparathyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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