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MCID: PSD015
MIFTS: 50

Pseudohypoparathyroidism

Categories: Blood diseases, Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Pseudohypoparathyroidism

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MalaCards integrated aliases for Pseudohypoparathyroidism:

Name: Pseudohypoparathyroidism 12 76 53 37 29 55 6 44 15 73

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Fetal diseases Genetic diseases
Anatomical: Endocrine diseases Eye diseases Skin diseases Bone diseases Nephrological diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:4184
ICD10 33 E20.1
MeSH 44 D011547
NCIt 50 C99027
SNOMED-CT 68 58976002
KEGG 37 H00244
UMLS 73 C0033806
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Summaries for Pseudohypoparathyroidism

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NIH Rare Diseases : 53 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 1APseudohypoparathyroidism type 1BPseudohypoparathyroidism type 1CPseudohypoparathyroidism type 2

MalaCards based summary : Pseudohypoparathyroidism is related to pseudopseudohypoparathyroidism and pseudohypoparathyroidism, type ib. An important gene associated with Pseudohypoparathyroidism is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are SNARE interactions in vesicular transport and Human Embryonic Stem Cell Pluripotency. The drugs Theophylline and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and thyroid, and related phenotypes are cardiovascular system and craniofacial

Wikipedia : 76 Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone.... more...

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Related Diseases for Pseudohypoparathyroidism

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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 156)
# Related Disease Score Top Affiliating Genes
1 pseudopseudohypoparathyroidism 33.5 GNAS PTH STX16
2 pseudohypoparathyroidism, type ib 33.3 BGLAP GNAS GNAS-AS1 PTH PTH1R PTHLH
3 albright's hereditary osteodystrophy 32.9 ADCY10 APC GNAS STX16
4 osseous heteroplasia, progressive 32.2 BGLAP GNAS
5 hypoparathyroidism 30.6 BGLAP PTH PTH1R PTHLH
6 hyperparathyroidism 30.3 BGLAP PTH PTHLH
7 osteitis fibrosa 30.0 BGLAP GNAS PTH
8 secondary hyperparathyroidism of renal origin 30.0 BGLAP PTH
9 hypothyroidism, congenital, nongoitrous, 1 29.9 GNAS STX16
10 mccune-albright syndrome 29.8 APC BGLAP GNAS
11 osteomalacia 29.7 BGLAP PTH
12 bone disease 29.7 BGLAP PTH PTH1R PTHLH
13 renal osteodystrophy 29.6 BGLAP PTH
14 primary hyperparathyroidism 29.6 BGLAP PTH PTH1R PTHLH
15 osteoporosis 29.0 ADCY10 BGLAP PTH PTH1R PTHLH
16 pseudohypoparathyroidism, type ic 12.7
17 pseudohypoparathyroidism, type ia 12.7
18 pseudohypoparathyroidism, type ii 12.6
19 acrodysostosis 11.4
20 basal ganglia calcification, idiopathic, childhood-onset 11.0
21 hypothyroidism 10.3
22 multiple enchondromatosis, maffucci type 10.2 GNAS PTH1R
23 brachydactyly, type e2 10.2 GNAS PTHLH
24 rickets 10.2
25 tooth ankylosis 10.2 PTH1R PTHLH
26 juxtacortical osteosarcoma 10.2 GNAS PTHLH
27 clear cell chondrosarcoma 10.2 PTH1R PTHLH
28 juxtacortical chondroma 10.2 PTH1R PTHLH
29 connective tissue benign neoplasm 10.1 GNAS PTH
30 peripheral osteosarcoma 10.1 GNAS PTHLH
31 chondrodysplasia, blomstrand type 10.1 PTH PTH1R
32 chondroblastoma 10.1 PTH1R PTHLH
33 brachydactyly 10.1
34 growth hormone deficiency 10.1
35 sclerosing hepatic carcinoma 10.1 PTH PTHLH
36 invasive malignant thymoma 10.1 PTH PTHLH
37 hypocalciuric hypercalcemia, familial, type iii 10.1 PTH PTHLH
38 clear cell adenoma 10.1 PTH PTHLH
39 oncogenic osteomalacia 10.1 PTH PTHLH
40 chondromyxoid fibroma 10.1 PTH1R PTHLH
41 cloacogenic carcinoma 10.1 PTH PTHLH
42 enchondromatosis, multiple, ollier type 10.1 PTH1R PTHLH
43 calcinosis 10.1
44 epilepsy 10.1
45 multicentric carpotarsal osteolysis syndrome 10.1 BGLAP PTHLH
46 axial osteomalacia 10.1 BGLAP PTH
47 osteofibrous dysplasia 10.1 BGLAP GNAS
48 hypocalcemia, autosomal dominant 1 10.1 GNAS PTH
49 impaired renal function disease 10.1 BGLAP PTH
50 hypophosphatasia, adult 10.1 BGLAP PTH

Graphical network of the top 20 diseases related to Pseudohypoparathyroidism:



Diseases related to Pseudohypoparathyroidism
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Symptoms & Phenotypes for Pseudohypoparathyroidism

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MGI Mouse Phenotypes related to Pseudohypoparathyroidism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 ADCY10 APC GNAS PTH PTH1R PTHLH
2 craniofacial MP:0005382 9.55 APC GNAS PTH PTH1R PTHLH
3 limbs/digits/tail MP:0005371 9.35 APC GNAS PTH PTH1R PTHLH
4 skeleton MP:0005390 9.1 APC GNAS PTH PTH1R PTHLH STX16
Sources

Drugs & Therapeutics for Pseudohypoparathyroidism

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

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Theophylline Approved Phase 4,Phase 2 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,Phase 2
5 Anti-Asthmatic Agents Phase 4,Phase 2
6 Vasodilator Agents Phase 4,Phase 2
7 Purinergic P1 Receptor Antagonists Phase 4,Phase 2
8 Phosphodiesterase Inhibitors Phase 4,Phase 2
9 Respiratory System Agents Phase 4,Phase 2
10 Peripheral Nervous System Agents Phase 4,Phase 2
11 Bronchodilator Agents Phase 4,Phase 2
12 Autonomic Agents Phase 4,Phase 2
13 Antidotes Phase 2
14 Antitubercular Agents Phase 2
15 Antioxidants Phase 2
16 Protective Agents Phase 2
17 Anti-Infective Agents Phase 2
18 Chelating Agents Phase 2
19 Anti-Bacterial Agents Phase 2
20 sodium thiosulfate Phase 2
21
Lithium carbonate Approved 554-13-2
22
Denosumab Approved 615258-40-7
23
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
24
Calcitriol Approved, Nutraceutical 32222-06-3 5280453 134070
25
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
26 Hormones ,Not Applicable
27 Calciferol
28 Vitamins
29 Liver Extracts
30 Arginine Vasopressin
31 Calcium, Dietary
32 Ergocalciferols
33 Bone Density Conservation Agents
34 Vitamin D2
35 Cinacalcet Hydrochloride
36 Diphosphonates
37 Trace Elements
38 Hormones, Hormone Substitutes, and Hormone Antagonists
39 Micronutrients
40 Hormone Antagonists

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 Theophylline as a Treatment for Children With Pseudohypoparathyroidism Type 1a (Albright Hereditary Osteodystrophy) Completed NCT02463409 Phase 2 Theophylline
3 Theophylline Treatment for Pseudohypoparathyroidism Recruiting NCT03029429 Phase 2 Theophylline;Placebos
4 Intralesional Sodium Thiosulfate for Ectopic Calcifications or Ossifications. A Pilot Study Not yet recruiting NCT03582800 Phase 2 STS
5 Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia) Unknown status NCT00497484 Not Applicable recombinant human somatotropin
6 Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism Completed NCT02411461
7 Study of the Regulation of Parathyroid Hormone Secretion in Pseudohypoparathyroidism Completed NCT00004661
8 Hypoparathyroidism in Denmark Completed NCT01498341
9 Physiologic Regulation of FGF-23 Completed NCT00356512
10 Serum Calcium to Phosphorous Ratio (Ca/P) as a Simple, Inexpensive Screening Tool in the Diagnosis of Primary Hyperparathyroidism Completed NCT03027349
11 Reliability of Serum Calcium to Phosphorus (Ca/P) Ratio as an Accurate and Inexpensive Tool to Define Disorders of Ca-P Metabolism Completed NCT03603444
12 Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments Recruiting NCT00209235 Not Applicable
13 Resistance to Vitamin D or Parathyroid Hormone Recruiting NCT00001242
14 Studies of Inherited Diseases of Metabolism Recruiting NCT00001345
15 Characterization of Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism Active, not recruiting NCT02551120
16 Glucose Homeostasis in Pseudohypoparathyroidism Not yet recruiting NCT03761290
17 Energy Expenditure and Body Composition in Pseudohypoparathyroidism 1a Terminated NCT01398774

Search NIH Clinical Center for Pseudohypoparathyroidism

Cochrane evidence based reviews: pseudohypoparathyroidism

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Genetic Tests for Pseudohypoparathyroidism

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Genetic tests related to Pseudohypoparathyroidism:

# Genetic test Affiliating Genes
1 Pseudohypoparathyroidism 29 GNAS
Sources

Anatomical Context for Pseudohypoparathyroidism

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MalaCards organs/tissues related to Pseudohypoparathyroidism:

41
Bone, Eye, Thyroid, Skin, Testes, Spinal Cord, Heart
Sources

Publications for Pseudohypoparathyroidism

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Articles related to Pseudohypoparathyroidism:

(show top 50) (show all 745)
# Title Authors Year
1
Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A. ( 29193623 )
2018
2
Pseudohypoparathyroidism Causing Multiple Brain Calcifications. ( 29033417 )
2018
3
Pseudohypoparathyroidism type 1a. ( 29474689 )
2018
4
Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review. ( 29971010 )
2018
5
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. ( 29959430 )
2018
6
Health-related quality of life in patients with nonsurgical hypoparathyroidism and pseudohypoparathyroidism. ( 29520810 )
2018
7
Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population. ( 29136292 )
2018
8
Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases. ( 29445425 )
2018
9
Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a. ( 29796323 )
2018
10
A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a. ( 29320763 )
2018
11
Prevalence of Nephrocalcinosis in Pseudohypoparathyroidism: Is Screening Necessary? ( 29699796 )
2018
12
Obstructive Sleep Apnea and Otolaryngologic Manifestations in Children with Pseudohypoparathyroidism. ( 29455209 )
2018
13
(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I. ( 29379892 )
2018
14
Cranio-Maxillofacial and Dental Findings in Albright's Hereditary Osteodystrophy and Pseudohypoparathyroidism. ( 30497275 )
2018
15
Prevalence of nephrocalcinosis in pseudohypoparathyroidism: Is screening necessary? ( 30049397 )
2018
16
Bone Mineral Density and Its Serial Changes Are Associated With PTH Levels in Pseudohypoparathyroidism Type 1B Patients. ( 29240265 )
2018
17
Pseudohypoparathyroidism type 1B in a patient conceived by in vitro fertilization: another imprinting disorder reported with assisted reproductive technology. ( 29417303 )
2018
18
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis. ( 29499646 )
2018
19
Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia. ( 30060753 )
2018
20
Glucose Homeostasis and Energy Balance in Children With Pseudohypoparathyroidism. ( 30085125 )
2018
21
Acrophobia in a Young Girl with Parathyroid Hormone Resistance (Pseudohypoparathyroidism). ( 30173686 )
2018
22
Severe Hypocalcemia and Extreme Elevation of Serum Creatinkinase in a 16-Year Old Boy with Pseudohypoparathyroidism Type Ib. ( 30216183 )
2018
23
Wind of change in pseudohypoparathyroidism and related disorders: New classification and first international management consensus. ( 30243379 )
2018
24
Pseudohypoparathyroidism. ( 30390819 )
2018
25
Renal tubular dysfunction fully accounts for plasma biochemical abnormalities in Type 1A Pseudohypoparathyroidism. ( 30418563 )
2018
26
Classic and Non-Classic Features in Pseudohypoparathyroidism: Case Study and Brief Literature Review. ( 29387507 )
2017
27
Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report. ( 28648114 )
2017
28
Nonclassic features of pseudohypoparathyroidism type 1A. ( 27875418 )
2017
29
Craniosynostosis as the first manifestation of an Albright's osteodystrophy associated with pseudohypoparathyroidism type 1A. ( 28396140 )
2017
30
Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism. ( 28296742 )
2017
31
Case Report of a Satin Guinea Pig with Fibrous Osteodystrophy That Resembles Human Pseudohypoparathyroidism. ( 29955426 )
2017
32
Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder. ( 29280743 )
2017
33
Late diagnosis of pseudohypoparathyroidism 1b. ( 28751084 )
2017
34
Pseudohypoparathyroidism type 1B associated with assisted reproductive technology. ( 28902630 )
2017
35
Pseudohypoparathyroidism. ( 29125274 )
2017
36
Bone Status Among Patients With Nonsurgical Hypoparathyroidism, Autosomal Dominant Hypocalcaemia, and Pseudohypoparathyroidism: A Cohort Study. ( 29087612 )
2017
37
The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations. ( 29292871 )
2017
38
Pseudohypoparathyroidism: one gene, several syndromes. ( 27995443 )
2017
39
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B). ( 28084650 )
2017
40
The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link? ( 27703483 )
2016
41
Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b. ( 27253667 )
2016
42
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption. ( 27871293 )
2016
43
Pseudohypoparathyroidism Type IA Subclinical Hypothyroidism and Rapid Weight Gain weight As Early Clinical Signs. A clinical Study of 10 Cases. ( 27467896 )
2016
44
Management of pseudohypoparathyroidism in pregnancy: a case report. ( 27981863 )
2016
45
Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus. ( 27170606 )
2016
46
Spondyloarthropathy-Like Findings and Diffuse Osteosclerosis as the Presenting Feature of Pseudohypoparathyroidism. ( 26906309 )
2016
47
A novel mutation in a case of pseudohypoparathyroidism type Ia. ( 27922245 )
2016
48
Osteosarcoma in a Patient with Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q. ( 27859596 )
2016
49
Longitudinal Observation in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation of the GNAS Gene. ( 27425121 )
2016
50
Hypoparathyroidism and pseudohypoparathyroidism: etiology, laboratory features and complications. ( 27901178 )
2016
Sources

Variations for Pseudohypoparathyroidism

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ClinVar genetic disease variations for Pseudohypoparathyroidism:

6 (show all 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAS NM_000516.5(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs137854530 GRCh37 Chromosome 20, 57466782: 57466782
2 GNAS NM_000516.5(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs137854530 GRCh38 Chromosome 20, 58891727: 58891727
3 GNAS GNAS, IVS10DS, G-C, +1 single nucleotide variant Pathogenic
4 GNAS GNAS, 1-BP DEL, 725C deletion Pathogenic
5 GNAS GNAS, IVS3AS, A-G, -12 single nucleotide variant Pathogenic
6 GNAS NM_001077488.3(GNAS): c.299T> C (p.Leu100Pro) single nucleotide variant Pathogenic rs137854531 GRCh37 Chromosome 20, 57478624: 57478624
7 GNAS NM_001077488.3(GNAS): c.299T> C (p.Leu100Pro) single nucleotide variant Pathogenic rs137854531 GRCh38 Chromosome 20, 58903569: 58903569
8 GNAS NM_000516.5(GNAS): c.493C> T (p.Arg165Cys) single nucleotide variant Pathogenic rs137854532 GRCh37 Chromosome 20, 57480498: 57480498
9 GNAS NM_000516.5(GNAS): c.493C> T (p.Arg165Cys) single nucleotide variant Pathogenic rs137854532 GRCh38 Chromosome 20, 58905443: 58905443
10 GNAS GNAS, 1-BP INS, A, EXON 3 insertion Pathogenic
11 GNAS GNAS, 12-BP INS, NT1107 insertion Pathogenic
12 GNAS NM_000516.5(GNAS): c.565_568delGACT (p.Asp189Metfs) deletion Pathogenic rs587776829 GRCh37 Chromosome 20, 57484251: 57484254
13 GNAS NM_000516.5(GNAS): c.565_568delGACT (p.Asp189Metfs) deletion Pathogenic rs587776829 GRCh38 Chromosome 20, 58909196: 58909199
14 GNAS NM_001077488.3(GNAS): c.753C> G (p.Ser251Arg) single nucleotide variant Pathogenic rs137854534 GRCh37 Chromosome 20, 57484770: 57484770
15 GNAS NM_001077488.3(GNAS): c.753C> G (p.Ser251Arg) single nucleotide variant Pathogenic rs137854534 GRCh38 Chromosome 20, 58909715: 58909715
16 GNAS GNAS, 38-BP DEL, EX1/IVS1 BOUNDARY deletion Pathogenic
17 GNAS NM_001077488.3(GNAS): c.695G> A (p.Arg232His) single nucleotide variant Pathogenic rs137854538 GRCh37 Chromosome 20, 57484608: 57484608
18 GNAS NM_001077488.3(GNAS): c.695G> A (p.Arg232His) single nucleotide variant Pathogenic rs137854538 GRCh38 Chromosome 20, 58909553: 58909553
19 GNAS GNAS, 2-BP DEL, GA, EXON 8 deletion Pathogenic
20 GNAS GNAS, 2-BP DEL, CT, EXON 4 deletion Pathogenic
21 GNAS GNAS, 1-BP DEL, 348C deletion Pathogenic
22 GNAS GNAS, 1-BP DEL, C, EXON 1 deletion Pathogenic
23 GNAS GNAS, 2-BP DEL, TG, EXON 11 deletion Pathogenic
24 GNAS NM_001077488.3(GNAS): c.347C> T (p.Pro116Leu) single nucleotide variant Pathogenic rs137854539 GRCh37 Chromosome 20, 57478758: 57478758
25 GNAS NM_001077488.3(GNAS): c.347C> T (p.Pro116Leu) single nucleotide variant Pathogenic rs137854539 GRCh38 Chromosome 20, 58903703: 58903703
26 GNAS NM_001077488.3(GNAS): c.1177G> A (p.Glu393Lys) single nucleotide variant Pathogenic rs397514456 GRCh37 Chromosome 20, 57485873: 57485873
27 GNAS NM_001077488.3(GNAS): c.1177G> A (p.Glu393Lys) single nucleotide variant Pathogenic rs397514456 GRCh38 Chromosome 20, 58910818: 58910818
28 GNAS NM_000516.5(GNAS): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs797045046 GRCh37 Chromosome 20, 57466815: 57466815
29 GNAS NM_000516.5(GNAS): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs797045046 GRCh38 Chromosome 20, 58891760: 58891760
30 GNAS NM_000516.5(GNAS): c.880C> T (p.Gln294Ter) single nucleotide variant Likely pathogenic rs863224876 GRCh37 Chromosome 20, 57485046: 57485046
31 GNAS NM_000516.5(GNAS): c.880C> T (p.Gln294Ter) single nucleotide variant Likely pathogenic rs863224876 GRCh38 Chromosome 20, 58909991: 58909991
32 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh37 Chromosome 20, 57429520: 57429520
33 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh38 Chromosome 20, 58854465: 58854465
34 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh37 Chromosome 20, 57429775: 57429775
35 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh38 Chromosome 20, 58854720: 58854720
36 GNAS NM_080425.3(GNAS): c.475G> A (p.Glu159Lys) single nucleotide variant Likely pathogenic rs1135401777 GRCh38 Chromosome 20, 58853740: 58853740
37 GNAS NM_080425.3(GNAS): c.475G> A (p.Glu159Lys) single nucleotide variant Likely pathogenic rs1135401777 GRCh37 Chromosome 20, 57428795: 57428795
38 GNAS NM_001077488.3(GNAS): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 58891728: 58891728
39 GNAS NM_001077488.3(GNAS): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 57466783: 57466783

Copy number variations for Pseudohypoparathyroidism from CNVD:

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

Expression for Pseudohypoparathyroidism

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Search GEO for disease gene expression data for Pseudohypoparathyroidism.
Sources

Pathways for Pseudohypoparathyroidism

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Pathways related to Pseudohypoparathyroidism according to KEGG:

37
# Name Kegg Source Accession
1 SNARE interactions in vesicular transport hsa04130

Pathways related to Pseudohypoparathyroidism according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Human Embryonic Stem Cell Pluripotency 64
Show member pathways
 12.1 APC GNAL GNAS
2
Presynaptic function of Kainate receptors 66
Show member pathways
 12.07 GNAS PTH PTH1R PTHLH
3
WNT Signaling 64
12.03 APC GNAL GNAS
4
G alpha (s) signalling events 66
11.72 GNAS PTH PTH1R PTHLH
5
Endochondral Ossification 1
11.39 PTH PTH1R PTHLH
6
Parathyroid hormone synthesis, secretion and action 37
11.38 BGLAP GNAS PTH PTH1R PTHLH
7
Endocrine and other factor-regulated calcium reabsorption 37
11.17 GNAS PTH1R
8
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
11.15 BGLAP PTH PTH1R
9
Endothelin Pathways 1
10.96 ADCY10 GNAS
10
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
10.61 BGLAP GNAS PTH PTH1R PTHLH
11
Osteoblast Signaling 1
10.48 BGLAP PTH PTH1R
Sources

GO Terms for Pseudohypoparathyroidism

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

# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.26 ADCY10 APC GNAS STX16
2 heterotrimeric G-protein complex GO:0005834 8.62 GNAL GNAS

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.91 GNAL GNAS PTH PTH1R PTHLH
2 response to drug GO:0042493 9.71 BGLAP GNAS PTH
3 skeletal system development GO:0001501 9.55 BGLAP GNAS PTH PTH1R PTHLH
4 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.54 GNAL GNAS PTH1R
5 bone development GO:0060348 9.52 BGLAP GNAS
6 bone resorption GO:0045453 9.49 PTH PTH1R
7 response to vitamin D GO:0033280 9.48 BGLAP PTH
8 negative regulation of chondrocyte differentiation GO:0032331 9.46 PTH PTHLH
9 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.43 PTH PTH1R
10 osteoblast development GO:0002076 9.43 BGLAP PTH1R PTHLH
11 response to parathyroid hormone GO:0071107 9.4 GNAS PTH
12 cAMP metabolic process GO:0046058 9.32 PTH PTHLH
13 bone mineralization GO:0030282 9.26 BGLAP PTH PTH1R PTHLH
14 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.02 GNAL GNAS PTH PTH1R PTHLH

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

# Name GO ID Score Top Affiliating Genes
1 G-protein beta/gamma-subunit complex binding GO:0031683 9.16 GNAL GNAS
2 guanyl nucleotide binding GO:0019001 8.96 GNAL GNAS
3 peptide hormone receptor binding GO:0051428 8.62 PTH PTHLH
Sources

Sources for Pseudohypoparathyroidism

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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