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MCID: PSD015
MIFTS: 51

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 Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pseudohypoparathyroidism

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MalaCards integrated aliases for Pseudohypoparathyroidism:

Name: Pseudohypoparathyroidism 12 77 54 38 30 56 6 45 15 74

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: 34


External Ids:

Disease Ontology 12 DOID:4184
KEGG 38 H00244
MeSH 45 D011547
NCIt 51 C99027
SNOMED-CT 69 58976002
ICD10 34 E20.1
UMLS 74 C0033806
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Summaries for Pseudohypoparathyroidism

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NIH Rare Diseases : 54 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, 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 thyroid, and related phenotypes are cardiovascular system and craniofacial

Wikipedia : 77 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 168)
# Related Disease Score Top Affiliating Genes
1 pseudopseudohypoparathyroidism 33.7 GNAS PTH STX16
2 pseudohypoparathyroidism, type ib 33.1 BGLAP GNAS GNAS-AS1 PTH PTH1R PTHLH
3 albright's hereditary osteodystrophy 32.5 ADCY10 APC GNAS PDE4D STX16
4 osseous heteroplasia, progressive 32.4 BGLAP GNAS
5 acrodysostosis 32.3 GNAS PDE4D
6 hypoparathyroidism 30.6 BGLAP PTH PTH1R PTHLH
7 hyperparathyroidism 30.3 BGLAP PTH PTHLH
8 hypothyroidism, congenital, nongoitrous, 1 30.2 GNAS STX16
9 brachydactyly 30.2 GNAS PDE4D PTHLH
10 osteitis fibrosa 30.1 BGLAP GNAS PTH
11 osteomalacia 29.9 BGLAP PTH
12 mccune-albright syndrome 29.8 APC BGLAP GNAS
13 renal osteodystrophy 29.6 BGLAP PTH
14 bone disease 29.6 BGLAP PTH PTH1R PTHLH
15 primary hyperparathyroidism 29.5 BGLAP PTH PTH1R PTHLH
16 osteoporosis 29.3 BGLAP PTH PTH1R PTHLH
17 pseudohypoparathyroidism, type ic 12.8
18 pseudohypoparathyroidism, type ia 12.7
19 pseudohypoparathyroidism, type ii 12.7
20 basal ganglia calcification, idiopathic, childhood-onset 11.1
21 hypothyroidism 10.4
22 multiple enchondromatosis, maffucci type 10.3 GNAS PTH1R
23 brachydactyly, type e2 10.3 GNAS PTHLH
24 tooth ankylosis 10.3 PTH1R PTHLH
25 clear cell chondrosarcoma 10.3 PTH1R PTHLH
26 juxtacortical chondroma 10.3 PTH1R PTHLH
27 juxtacortical osteosarcoma 10.3 GNAS PTHLH
28 chondrodysplasia, blomstrand type 10.3 PTH PTH1R
29 connective tissue benign neoplasm 10.3 GNAS PTH
30 sclerosing hepatic carcinoma 10.2 PTH PTHLH
31 invasive malignant thymoma 10.2 PTH PTHLH
32 hypocalciuric hypercalcemia, familial, type iii 10.2 PTH PTHLH
33 chondroblastoma 10.2 PTH1R PTHLH
34 clear cell adenoma 10.2 PTH PTHLH
35 peripheral osteosarcoma 10.2 GNAS PTHLH
36 oncogenic osteomalacia 10.2 PTH PTHLH
37 rickets 10.2
38 cloacogenic carcinoma 10.2 PTH PTHLH
39 chondromyxoid fibroma 10.2 PTH1R PTHLH
40 axial osteomalacia 10.2 BGLAP PTH
41 growth hormone deficiency 10.2
42 multicentric carpotarsal osteolysis syndrome 10.1 BGLAP PTHLH
43 phosphorus metabolism disease 10.1 GNAS PTH STX16
44 enchondromatosis, multiple, ollier type 10.1 PTH1R PTHLH
45 metal metabolism disorder 10.1 GNAS PTH STX16
46 hyperphosphatemia 10.1 GNAS PTH STX16
47 impaired renal function disease 10.1 BGLAP PTH
48 hypophosphatasia, adult 10.1 BGLAP PTH
49 calcinosis 10.1
50 epilepsy 10.1

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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UMLS symptoms related to Pseudohypoparathyroidism:


seizures

MGI Mouse Phenotypes related to Pseudohypoparathyroidism:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 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 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Theophylline Approved Phase 4,Phase 2 58-55-9 2153
2
tannic acid Approved Phase 4 1401-55-4
3
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
4 Anti-Asthmatic Agents Phase 4,Phase 2
5 Neurotransmitter Agents Phase 4,Phase 2
6 Peripheral Nervous System Agents Phase 4,Phase 2
7 Respiratory System Agents Phase 4,Phase 2
8 Bronchodilator Agents Phase 4,Phase 2
9 Autonomic Agents Phase 4,Phase 2
10 Vasodilator Agents Phase 4,Phase 2
11 Purinergic P1 Receptor Antagonists Phase 4,Phase 2
12 Phosphodiesterase Inhibitors Phase 4,Phase 2
13 Anti-Infective Agents Phase 2
14 sodium thiosulfate Phase 2
15 Protective Agents Phase 2
16 Antioxidants Phase 2
17 Antidotes Phase 2
18 Antitubercular Agents Phase 2
19 Chelating Agents Phase 2
20 Anti-Bacterial Agents Phase 2
21
Parathyroid hormone Approved, Investigational 9002-64-6
22
Cinacalcet Approved 226256-56-0 156419
23
Denosumab Approved 615258-40-7
24
Lithium carbonate Approved 554-13-2
25
Calcium Approved, Nutraceutical 7440-70-2 271
26
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
27
Calcitriol Approved, Nutraceutical 32222-06-3 5280453 134070
28
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
29 Calcium, Dietary
30 Hormones ,Not Applicable
31 Calciferol
32 Vitamins
33 Arginine Vasopressin
34 Liver Extracts
35 Diphosphonates
36 Bone Density Conservation Agents
37 Ergocalciferols
38 Vitamin D2
39 Nutrients
40 Trace Elements
41 Hormones, Hormone Substitutes, and Hormone Antagonists
42 Micronutrients
43 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 30 GNAS
Sources

Anatomical Context for Pseudohypoparathyroidism

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MalaCards organs/tissues related to Pseudohypoparathyroidism:

42
Bone, Eye, Thyroid, Skin, Testes, Spinal Cord, Kidney
Sources

Publications for Pseudohypoparathyroidism

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Articles related to Pseudohypoparathyroidism:

(show top 50) (show all 766)
# Title Authors Year
1
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders. ( 31041856 )
2019
2
Impaired amygdala-based learning and decreased anxiety in a murine model of pseudohypoparathyroidism type 1A. ( 30922937 )
2019
3
Renal Tubular Dysfunction Fully Accounts for Plasma Biochemical Abnormalities in Type 1A Pseudohypoparathyroidism. ( 30418563 )
2019
4
Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3. ( 30616679 )
2019
5
Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood. ( 30674755 )
2019
6
Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman. ( 30729047 )
2019
7
A case of pseudohypoparathyroidism type Ia with a novel frameshift mutation in the GNAS gene: early diagnosis of osteoma cutis by skin biopsy. ( 30745729 )
2019
8
Presentation of pseudohypoparathyroidism and pseudopseudohypoparathyroidism with skin lesions: Case reports and review. ( 30809832 )
2019
9
High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B. ( 30905746 )
2019
10
Pseudohypoparathyroidism and Cardiomyopathy: A Case Report with a New Perspective on the Cardiovascular-Endocrine Axis with Respect to Calcium Homeostasis. ( 30931261 )
2019
11
Cranio-Maxillofacial and Dental Findings in Albright's Hereditary Osteodystrophy and Pseudohypoparathyroidism. ( 30497275 )
2018
12
Cardiovascular findings in patients with non-surgical hypoparathyroidism and pseudohypoparathyroidism: a cohort study. ( 30589959 )
2018
13
Bone Status Among Patients With Nonsurgical Hypoparathyroidism, Autosomal Dominant Hypocalcaemia, and Pseudohypoparathyroidism: A Cohort Study. ( 29087612 )
2018
14
Health-related quality of life in patients with nonsurgical hypoparathyroidism and pseudohypoparathyroidism. ( 29520810 )
2018
15
Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review. ( 29971010 )
2018
16
Prevalence of Nephrocalcinosis in Pseudohypoparathyroidism: Is Screening Necessary? ( 29699796 )
2018
17
Prevalence of nephrocalcinosis in pseudohypoparathyroidism: Is screening necessary? ( 30049397 )
2018
18
Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report. ( 28648114 )
2018
19
Pseudohypoparathyroidism Causing Multiple Brain Calcifications. ( 29033417 )
2018
20
Pseudohypoparathyroidism. ( 29125274 )
2018
21
Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population. ( 29136292 )
2018
22
Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A. ( 29193623 )
2018
23
Bone Mineral Density and Its Serial Changes Are Associated With PTH Levels in Pseudohypoparathyroidism Type 1B Patients. ( 29240265 )
2018
24
(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I. ( 29379892 )
2018
25
Pseudohypoparathyroidism type 1B in a patient conceived by in vitro fertilization: another imprinting disorder reported with assisted reproductive technology. ( 29417303 )
2018
26
Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases. ( 29445425 )
2018
27
Obstructive Sleep Apnea and Otolaryngologic Manifestations in Children with Pseudohypoparathyroidism. ( 29455209 )
2018
28
Pseudohypoparathyroidism type 1a. ( 29474689 )
2018
29
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis. ( 29499646 )
2018
30
Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a. ( 29796323 )
2018
31
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. ( 29959430 )
2018
32
Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia. ( 30060753 )
2018
33
Glucose Homeostasis and Energy Balance in Children With Pseudohypoparathyroidism. ( 30085125 )
2018
34
Acrophobia in a Young Girl with Parathyroid Hormone Resistance (Pseudohypoparathyroidism). ( 30173686 )
2018
35
Severe Hypocalcemia and Extreme Elevation of Serum Creatinkinase in a 16-Year Old Boy with Pseudohypoparathyroidism Type Ib. ( 30216183 )
2018
36
Wind of change in pseudohypoparathyroidism and related disorders: New classification and first international management consensus. ( 30243379 )
2018
37
Pseudohypoparathyroidism. ( 30390819 )
2018
38
Three cases of transient neonatal pseudohypoparathyroidism. ( 30799898 )
2018
39
Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism. ( 28296742 )
2017
40
Craniosynostosis as the first manifestation of an Albright's osteodystrophy associated with pseudohypoparathyroidism type 1A. ( 28396140 )
2017
41
Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene. ( 27425121 )
2017
42
Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q. ( 27859596 )
2017
43
Nonclassic features of pseudohypoparathyroidism type 1A. ( 27875418 )
2017
44
Management of pseudohypoparathyroidism in pregnancy: a case report. ( 27981863 )
2017
45
Pseudohypoparathyroidism: one gene, several syndromes. ( 27995443 )
2017
46
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B). ( 28084650 )
2017
47
Late diagnosis of 1b pseudohypoparathyroidism. ( 28751084 )
2017
48
Pseudohypoparathyroidism type 1B associated with assisted reproductive technology. ( 28902630 )
2017
49
Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder. ( 29280743 )
2017
50
The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations. ( 29292871 )
2017
Sources

Variations for Pseudohypoparathyroidism

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ClinVar genetic disease variations for Pseudohypoparathyroidism:

6 (show all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAS NM_000516.5(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854530 GRCh37 Chromosome 20, 57466782: 57466782
2 GNAS NM_000516.5(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/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 NM_000516.5(GNAS): c.565_568delGACT (p.Asp189Metfs) deletion Pathogenic rs587776829 GRCh37 Chromosome 20, 57484251: 57484254
11 GNAS NM_000516.5(GNAS): c.565_568delGACT (p.Asp189Metfs) deletion Pathogenic rs587776829 GRCh38 Chromosome 20, 58909196: 58909199
12 GNAS NM_001077488.3(GNAS): c.753C> G (p.Ser251Arg) single nucleotide variant Pathogenic rs137854534 GRCh37 Chromosome 20, 57484770: 57484770
13 GNAS NM_001077488.3(GNAS): c.753C> G (p.Ser251Arg) single nucleotide variant Pathogenic rs137854534 GRCh38 Chromosome 20, 58909715: 58909715
14 GNAS GNAS, 38-BP DEL, EX1/IVS1 BOUNDARY deletion Pathogenic
15 GNAS NM_001077488.3(GNAS): c.695G> A (p.Arg232His) single nucleotide variant Pathogenic rs137854538 GRCh37 Chromosome 20, 57484608: 57484608
16 GNAS NM_001077488.3(GNAS): c.695G> A (p.Arg232His) single nucleotide variant Pathogenic rs137854538 GRCh38 Chromosome 20, 58909553: 58909553
17 GNAS GNAS, 2-BP DEL, GA, EXON 8 deletion Pathogenic
18 GNAS GNAS, 2-BP DEL, CT, EXON 4 deletion Pathogenic
19 GNAS GNAS, 1-BP DEL, 348C deletion Pathogenic
20 GNAS GNAS, 1-BP DEL, C, EXON 1 deletion Pathogenic
21 GNAS GNAS, 2-BP DEL, TG, EXON 11 deletion Pathogenic
22 GNAS NM_001077488.3(GNAS): c.347C> T (p.Pro116Leu) single nucleotide variant Pathogenic rs137854539 GRCh37 Chromosome 20, 57478758: 57478758
23 GNAS NM_001077488.3(GNAS): c.347C> T (p.Pro116Leu) single nucleotide variant Pathogenic rs137854539 GRCh38 Chromosome 20, 58903703: 58903703
24 GNAS GNAS, 1-BP INS, A, EXON 3 insertion Pathogenic
25 GNAS GNAS, 12-BP INS, NT1107 insertion Pathogenic
26 GNAS NM_000516.5(GNAS): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs797045046 GRCh37 Chromosome 20, 57466815: 57466815
27 GNAS NM_000516.5(GNAS): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs797045046 GRCh38 Chromosome 20, 58891760: 58891760
28 GNAS NM_000516.5(GNAS): c.880C> T (p.Gln294Ter) single nucleotide variant Likely pathogenic rs863224876 GRCh37 Chromosome 20, 57485046: 57485046
29 GNAS NM_000516.5(GNAS): c.880C> T (p.Gln294Ter) single nucleotide variant Likely pathogenic rs863224876 GRCh38 Chromosome 20, 58909991: 58909991
30 GNAS NM_001077488.3(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 GRCh37 Chromosome 20, 57466866: 57466866
31 GNAS NM_001077488.3(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 GRCh38 Chromosome 20, 58891811: 58891811
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

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.
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Pathways for Pseudohypoparathyroidism

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Pathways related to Pseudohypoparathyroidism according to KEGG:

38
# Name Kegg Source Accession
1 SNARE interactions in vesicular transport hsa04130

Pathways related to Pseudohypoparathyroidism according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 67
Show member pathways
 13.78 ADCY10 APC GNAL GNAS PDE4D PTH
2
Human Embryonic Stem Cell Pluripotency 65
Show member pathways
 12.14 APC GNAL GNAS
3
Presynaptic function of Kainate receptors 67
Show member pathways
 12.1 GNAS PTH PTH1R PTHLH
4
WNT Signaling 65
12.08 APC GNAL GNAS
5
cAMP signaling pathway 38
11.94 ADCY10 GNAS PDE4D
6
G alpha (s) signalling events 67
11.72 GNAS PDE4D PTH PTH1R PTHLH
7
Endochondral Ossification 1
11.36 PTH PTH1R PTHLH
8
Endocrine and other factor-regulated calcium reabsorption 38
11.18 GNAS PTH1R
9
Transcription_Role of VDR in regulation of genes involved in osteoporosis 23
11.15 BGLAP PTH PTH1R
10
Parathyroid hormone synthesis, secretion and action 38
11.13 BGLAP GNAS PDE4D PTH PTH1R PTHLH
11
Endothelin Pathways 1
10.99 ADCY10 GNAS
12
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
10.94 BGLAP GNAS PTH PTH1R PTHLH
13
Osteoblast Signaling 1
10.58 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 13)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.91 GNAL GNAS PDE4D PTH PTH1R PTHLH
2 aging GO:0007568 9.7 BGLAP PDE4D PTH1R
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 resorption GO:0045453 9.51 PTH PTH1R
6 response to vitamin D GO:0033280 9.49 BGLAP PTH
7 negative regulation of chondrocyte differentiation GO:0032331 9.48 PTH PTHLH
8 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.46 PTH PTH1R
9 osteoblast development GO:0002076 9.43 BGLAP PTH1R PTHLH
10 response to parathyroid hormone GO:0071107 9.4 GNAS PTH
11 cAMP metabolic process GO:0046058 9.32 PTH PTHLH
12 bone mineralization GO:0030282 9.13 BGLAP PTH1R PTHLH
13 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 9.26 GNAL GNAS
2 guanyl nucleotide binding GO:0019001 9.16 GNAL GNAS
3 peptide hormone receptor binding GO:0051428 8.96 PTH PTHLH
4 beta-2 adrenergic receptor binding GO:0031698 8.62 GNAS PDE4D
Sources

Sources for Pseudohypoparathyroidism

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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