MCID: PSD015
MIFTS: 50

Pseudohypoparathyroidism

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

Aliases & Classifications for Pseudohypoparathyroidism

Summaries for Pseudohypoparathyroidism

NIH Rare Diseases : 49 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 Last updated: 1/5/2016

MalaCards based summary : Pseudohypoparathyroidism is related to pseudopseudohypoparathyroidism and albright's hereditary osteodystrophy. 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 Respiratory System Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and testes, and related phenotypes are cardiovascular system and craniofacial

Wikipedia : 72 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 162)
# Related Disease Score Top Affiliating Genes
1 pseudopseudohypoparathyroidism 33.4 GNAS PTH STX16
2 albright's hereditary osteodystrophy 32.3 ADCY10 APC GNAS STX16
3 pseudohypoparathyroidism, type ib 32.2 BGLAP GNAS GNAS-AS1 PTH PTH1R PTHLH
4 osseous heteroplasia, progressive 32.1 BGLAP GNAS
5 acrodysostosis 31.5 GNAS PTH PTH1R PTHLH
6 hypoparathyroidism 29.9 BGLAP PTH PTH1R PTHLH
7 hyperparathyroidism 29.9 BGLAP PTH PTHLH
8 secondary hyperparathyroidism of renal origin 29.8 BGLAP PTH
9 osteitis fibrosa 29.8 BGLAP GNAS PTH
10 mccune-albright syndrome 29.4 APC BGLAP GNAS
11 renal osteodystrophy 29.4 BGLAP PTH
12 hypercalcemia, infantile, 1 29.4 PTH PTH1R PTHLH
13 osteomalacia 29.1 BGLAP PTHLH
14 primary hyperparathyroidism 29.0 BGLAP PTH PTH1R PTHLH
15 osteoporosis 28.1 ADCY10 BGLAP PTH PTH1R PTHLH
16 pseudohypoparathyroidism, type ic 12.5
17 pseudohypoparathyroidism, type ia 12.5
18 pseudohypoparathyroidism, type ii 12.5
19 basal ganglia calcification, idiopathic, childhood-onset 10.9
20 multiple enchondromatosis, maffucci type 10.4 GNAS PTH1R
21 juxtacortical osteosarcoma 10.3 GNAS PTHLH
22 tooth ankylosis 10.3 PTH1R PTHLH
23 juxtacortical chondroma 10.3 PTH1R PTHLH
24 peripheral osteosarcoma 10.3 GNAS PTHLH
25 chondrodysplasia, blomstrand type 10.3 PTH PTH1R
26 pyle disease 10.3 PTH1R PTHLH
27 sclerosing hepatic carcinoma 10.2 PTH PTHLH
28 invasive malignant thymoma 10.2 PTH PTHLH
29 clear cell adenoma 10.2 PTH PTHLH
30 oncogenic osteomalacia 10.2 PTH PTHLH
31 jaw cancer 10.2 PTH PTHLH
32 chondromyxoid fibroma 10.2 PTH1R PTHLH
33 enchondromatosis, multiple, ollier type 10.2 PTH1R PTHLH
34 cloacogenic carcinoma 10.2 PTH PTHLH
35 osteofibrous dysplasia 10.2 BGLAP GNAS
36 axial osteomalacia 10.2 BGLAP PTH
37 multicentric carpotarsal osteolysis syndrome 10.2 BGLAP PTHLH
38 hypophosphatasia, adult 10.1 BGLAP PTH
39 impaired renal function disease 10.1 BGLAP PTH
40 phosphorus metabolism disease 10.1 GNAS PTH STX16
41 hypothyroidism 10.1
42 skeletal dysplasias 10.1 PTH1R PTHLH
43 metal metabolism disorder 10.1 GNAS PTH STX16
44 hyperphosphatemia 10.1 GNAS PTH STX16
45 body mass index quantitative trait locus 11 10.1
46 body mass index quantitative trait locus 9 10.1
47 body mass index quantitative trait locus 8 10.1
48 body mass index quantitative trait locus 4 10.1
49 body mass index quantitative trait locus 10 10.1
50 body mass index quantitative trait locus 7 10.1

Graphical network of the top 20 diseases related to Pseudohypoparathyroidism:



Diseases related to Pseudohypoparathyroidism

Symptoms & Phenotypes for Pseudohypoparathyroidism

MGI Mouse Phenotypes related to Pseudohypoparathyroidism:

43
# 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

Drugs & Therapeutics for Pseudohypoparathyroidism

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Theophylline Approved Phase 2 58-55-9 2153
2 Respiratory System Agents Phase 2
3 Neurotransmitter Agents Phase 2
4 Vasodilator Agents Phase 2
5 Peripheral Nervous System Agents Phase 2
6 Anti-Asthmatic Agents Phase 2
7 Phosphodiesterase Inhibitors Phase 2
8 Purinergic P1 Receptor Antagonists Phase 2
9 Autonomic Agents Phase 2
10 Bronchodilator Agents Phase 2
11
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
12
Calcitriol Approved, Nutraceutical 32222-06-3 5280453 134070
13
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
14 Hormones
15 Vitamins
16 Liver Extracts
17 Arginine Vasopressin
18 Calcium, Dietary
19 Micronutrients
20 Trace Elements
21 Hormone Antagonists
22 Hormones, Hormone Substitutes, and Hormone Antagonists
23 Ergocalciferols
24 Bone Density Conservation Agents
25 Vitamin D2 Nutraceutical
26 Calciferol Nutraceutical

Interventional clinical trials:

(show all 13)

# Name Status NCT ID Phase Drugs
1 Theophylline as a Treatment for Children With Pseudohypoparathyroidism Type 1a (Albright Hereditary Osteodystrophy) Completed NCT02463409 Phase 2 Theophylline
2 Theophylline Treatment for Pseudohypoparathyroidism Not yet recruiting NCT03029429 Phase 2 Theophylline;Placebos
3 Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia) Unknown status NCT00497484 recombinant human somatotropin
4 Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism Completed NCT02411461
5 Study of the Regulation of Parathyroid Hormone Secretion in Pseudohypoparathyroidism Completed NCT00004661
6 Hypoparathyroidism in Denmark Completed NCT01498341
7 Physiologic Regulation of FGF-23 Completed NCT00356512
8 Serum Calcium to Phosphorous Ratio (Ca/P) as a Simple, Inexpensive Screening Tool in the Diagnosis of Primary Hyperparathyroidism Completed NCT03027349
9 Characterization of Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism Recruiting NCT02551120
10 Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments Recruiting NCT00209235
11 Resistance to Vitamin D or Parathyroid Hormone Recruiting NCT00001242
12 Studies of Inherited Diseases of Metabolism Recruiting NCT00001345
13 Energy Expenditure and Body Composition in Pseudohypoparathyroidism 1a Active, not recruiting NCT01398774

Search NIH Clinical Center for Pseudohypoparathyroidism

Cochrane evidence based reviews: pseudohypoparathyroidism

Genetic Tests for Pseudohypoparathyroidism

Anatomical Context for Pseudohypoparathyroidism

MalaCards organs/tissues related to Pseudohypoparathyroidism:

38
Bone, Eye, Testes, Thyroid, Spinal Cord, Liver, Kidney

Publications for Pseudohypoparathyroidism

Articles related to Pseudohypoparathyroidism:

(show top 50) (show all 604)
# Title Authors Year
1
Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases. ( 29445425 )
2018
2
Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population. ( 29136292 )
2018
3
(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I. ( 29379892 )
2018
4
Pseudohypoparathyroidism Causing Multiple Brain Calcifications. ( 29033417 )
2018
5
Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A. ( 29193623 )
2018
6
Pseudohypoparathyroidism type 1B in a patient conceived by in vitro fertilization: another imprinting disorder reported with assisted reproductive technology. ( 29417303 )
2018
7
A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a. ( 29320763 )
2018
8
Classic and Non-Classic Features in Pseudohypoparathyroidism: Case Study and Brief Literature Review. ( 29387507 )
2017
9
Pseudohypoparathyroidism type 1B associated with assisted reproductive technology. ( 28902630 )
2017
10
Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism. ( 28296742 )
2017
11
Nonclassic features of pseudohypoparathyroidism type 1A. ( 27875418 )
2017
12
Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report. ( 28648114 )
2017
13
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding GsI+ Is Associated with Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B). ( 28084650 )
2017
14
The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations. ( 29292871 )
2017
15
Craniosynostosis as the first manifestation of an Albright's osteodystrophy associated with pseudohypoparathyroidism type 1A. ( 28396140 )
2017
16
Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder. ( 29280743 )
2017
17
Pseudohypoparathyroidism. ( 29125274 )
2017
18
Bone Status Among Patients With Nonsurgical Hypoparathyroidism, Autosomal Dominant Hypocalcaemia, and Pseudohypoparathyroidism: A Cohort Study. ( 29087612 )
2017
19
Late diagnosis of pseudohypoparathyroidism 1b. ( 28751084 )
2017
20
Bone Mineral Density and Its Serial Changes Are Associated With PTH Levels in Pseudohypoparathyroidism Type 1B Patients. ( 29240265 )
2017
21
Intracranial Cortical Calcifications in a Focal Epilepsy Patient with Pseudohypoparathyroidism. ( 27390678 )
2016
22
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects. ( 26819647 )
2016
23
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption. ( 27871293 )
2016
24
Spondyloarthropathy-Like Findings and Diffuse Osteosclerosis as the Presenting Feature of Pseudohypoparathyroidism. ( 26906309 )
2016
25
Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon? ( 27121328 )
2016
26
From Pseudohypoparathyroidism to inactivating PTH/PTHrP Signalling Disorder (iPPSD), a novel classification proposed by the European EuroPHP network. ( 27401862 )
2016
27
Management of pseudohypoparathyroidism in pregnancy: a case report. ( 27981863 )
2016
28
Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b. ( 27253667 )
2016
29
Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia. ( 27882740 )
2016
30
Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels. ( 26855372 )
2016
31
The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link? ( 27703483 )
2016
32
Isolated PTH Renal Resistance Pseudohypoparathyroidism 1b: A Rare Cause of Hypocalcemia. ( 27935921 )
2016
33
Cataract in pseudohypoparathyroidism. ( 27492110 )
2016
34
Pseudohypoparathyroidism Type IA Subclinical Hypothyroidism and Rapid Weight Gain weight As Early Clinical Signs. A clinical Study of 10 Cases. ( 27467896 )
2016
35
Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus. ( 27170606 )
2016
36
Hypocalcemic Cardiomyopathy and Pseudohypoparathyroidism Due to Severe Vitamin D Deficiency. ( 27739274 )
2016
37
Pseudohypoparathyroidism: one gene, several syndromes. ( 27995443 )
2016
38
Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation. ( 27415614 )
2016
39
Pseudohypoparathyroidism and GsI+-cAMP-linked disorders: current view and open issues. ( 27109785 )
2016
40
Osteosarcoma in a Patient with Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q. ( 27859596 )
2016
41
Hypoparathyroidism and pseudohypoparathyroidism: etiology, laboratory features and complications. ( 27901178 )
2016
42
Resting Energy Expenditure Is Decreased in Pseudohypoparathyroidism Type 1A. ( 26709970 )
2016
43
Neuropsychiatric phenotype in a child with pseudohypoparathyroidism. ( 27857805 )
2016
44
Longitudinal Observation in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation of the GNAS Gene. ( 27425121 )
2016
45
Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed with Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism. ( 26763073 )
2016
46
Cinacalcet as adjunctive therapy in pseudohypoparathyroidism type 1b. ( 26628282 )
2016
47
A novel mutation in a case of pseudohypoparathyroidism type Ia. ( 27922245 )
2016
48
Novel Microdeletions Affecting the GNAS Locus in Pseudohypoparathyroidism: Characterization of the Underlying Mechanisms. ( 25594858 )
2015
49
Clinical insights by the presence of bipolar disorder in pseudohypoparathyroidism type 1A. ( 26160055 )
2015
50
Increased Prevalence of Sleep Apnea in Children with Pseudohypoparathyroidism Type 1a. ( 25925491 )
2015

Variations for Pseudohypoparathyroidism

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

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

GO Terms for Pseudohypoparathyroidism

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

# Name GO ID Score Top Affiliating Genes
1 heterotrimeric G-protein complex GO:0005834 8.96 GNAL GNAS
2 perinuclear region of cytoplasm GO:0048471 8.92 ADCY10 APC GNAS STX16

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 activation of adenylate cyclase activity GO:0007190 9.54 GNAL GNAS
3 bone mineralization GO:0030282 9.52 BGLAP PTH1R
4 positive regulation of cAMP biosynthetic process GO:0030819 9.5 GNAS PTH PTHLH
5 bone resorption GO:0045453 9.49 PTH PTH1R
6 response to vitamin D GO:0033280 9.48 BGLAP PTH
7 negative regulation of chondrocyte differentiation GO:0032331 9.46 PTH PTHLH
8 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 9.43 GNAL GNAS
9 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.4 PTH PTH1R
10 response to parathyroid hormone GO:0071107 9.37 GNAS PTH
11 skeletal system development GO:0001501 9.35 BGLAP GNAS PTH PTH1R PTHLH
12 osteoblast development GO:0002076 9.33 BGLAP PTH1R PTHLH
13 cAMP metabolic process GO:0046058 9.26 PTH 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 for Pseudohypoparathyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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