MCID: PSD015
MIFTS: 46

Pseudohypoparathyroidism

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

Aliases & Classifications for Pseudohypoparathyroidism

Summaries for Pseudohypoparathyroidism

NIH Rare Diseases : 50 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 pseudohypoparathyroidism, type ib and pseudohypoparathyroidism ic. An important gene associated with Pseudohypoparathyroidism is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Presynaptic function of Kainate receptors. The drugs Theophylline and Anti-Asthmatic 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 Ia Pseudohypoparathyroidism Ic
Pseudohypoparathyroidism, Type Ib Pseudohypoparathyroidism, Type Ii

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

(show top 50) (show all 137)
id Related Disease Score Top Affiliating Genes
1 pseudohypoparathyroidism, type ib 34.0 GNAS PTH STX16
2 pseudohypoparathyroidism ic 33.3 GNAS GNAS-AS1 PTH STX16
3 osseous heteroplasia, progressive 31.7 APC GNAS
4 cri-du-chat syndrome 29.6 GNAS PTH1R PTHLH
5 pseudohypoparathyroidism ia 12.4
6 pseudohypoparathyroidism, type ii 12.3
7 pseudopseudohypoparathyroidism 12.0
8 acrodysostosis 11.1
9 apocrine sweat gland neoplasm 10.5 PTH1R PTHLH
10 binocular vision disease 10.5 PTH1R PTHLH
11 small cell osteogenic sarcoma 10.5 GNAS PTHLH
12 transverse colon cancer 10.5 PTH1R PTHLH
13 glutaric aciduria iii 10.4 PTH1R PTHLH
14 eiken syndrome 10.4 PTH PTH1R
15 pineal gland cancer 10.4 PTH PTHLH
16 conventional central osteosarcoma 10.4 GNAS PTHLH
17 teratocarcinoma 10.4 PTH PTHLH
18 brain angioma 10.4 PTH PTHLH
19 ophn1 syndrome 10.4 PTH PTHLH
20 acth-independent macronodular adrenal hyperplasia 10.4 BGLAP GNAS
21 impotence 10.4 PTH PTHLH
22 mitochondrial myopathy with lactic acidosis 10.3 BGLAP GNAS
23 fryns macrocephaly 10.3 PTH1R PTHLH
24 immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive 10.3 APC PTHLH
25 anal canal squamous cell carcinoma 10.3 PTH PTHLH
26 achondrogenesis 10.3 BGLAP PTH
27 angelman syndrome due to imprinting defect in 15q11-q13 10.3 PTH1R PTHLH
28 white sponge nevus of cannon, krt4-related 10.3 BGLAP PTH
29 hypoparathyroidism 10.3
30 mixed cell type adenoma of parathyroid 10.3 BGLAP PTH
31 hypophosphatasia, adult 10.2 BGLAP PTH
32 prediabetes syndrome 10.2 BGLAP PTH
33 gastric antral vascular ectasia 10.2 GNAS PTH STX16
34 skin fragility-woolly hair-palmoplantar keratoderma syndrome 10.2 PTH1R PTHLH
35 narcolepsy 10.2 GNAS PTH STX16
36 loeys-dietz syndrome 10.2 GNAS PTH STX16
37 bacillary angiomatosis 10.2 BGLAP PTH
38 pes anserinus tendinitis or bursitis 10.2 BGLAP PTH
39 bone resorption disease 10.1 BGLAP PTH
40 prune belly syndome 10.1 ADCY10 PTH
41 waardenburg syndrome, type 4b 10.1 PTH PTH1R PTHLH
42 polyglucosan body disease, adult form 10.1 PTH PTH1R PTHLH
43 tinea unguium 10.1 BGLAP PTH
44 hypothyroidism 10.0
45 xanthomatosis 10.0 BGLAP GNAS PTH
46 obesity 10.0
47 hyperparathyroidism 10.0
48 vulvovaginitis 10.0 BGLAP PTH1R PTHLH
49 thyroiditis 10.0
50 worth's syndrome 9.9 APC BGLAP GNAS

Graphical network of the top 20 diseases related to Pseudohypoparathyroidism:



Diseases related to Pseudohypoparathyroidism

Symptoms & Phenotypes for Pseudohypoparathyroidism

MGI Mouse Phenotypes related to Pseudohypoparathyroidism:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 ADCY10 APC GNAS PTH PTHLH
2 craniofacial MP:0005382 9.55 APC GNAS PTH PTH1R PTHLH
3 limbs/digits/tail MP:0005371 9.35 GNAS PTH PTH1R PTHLH APC
4 skeleton MP:0005390 9.02 APC GNAS PTH PTH1R PTHLH

Drugs & Therapeutics for Pseudohypoparathyroidism

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

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

Interventional clinical trials:

(show all 13)

id 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:

39
Bone, Eye, Testes, Thyroid, Spinal Cord, Liver, Kidney

Publications for Pseudohypoparathyroidism

Articles related to Pseudohypoparathyroidism:

(show top 50) (show all 591)
id Title Authors Year
1
Craniosynostosis as the first manifestation of an Albright's osteodystrophy associated with pseudohypoparathyroidism type 1A. ( 28396140 )
2017
2
Pseudohypoparathyroidism type 1B associated with assisted reproductive technology. ( 28902630 )
2017
3
Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report. ( 28648114 )
2017
4
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding GsI+ Is Associated with Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B). ( 28084650 )
2017
5
Nonclassic features of pseudohypoparathyroidism type 1A. ( 27875418 )
2017
6
Late diagnosis of pseudohypoparathyroidism 1b. ( 28751084 )
2017
7
Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism. ( 28296742 )
2017
8
Spondyloarthropathy-Like Findings and Diffuse Osteosclerosis as the Presenting Feature of Pseudohypoparathyroidism. ( 26906309 )
2016
9
Resting Energy Expenditure Is Decreased in Pseudohypoparathyroidism Type 1A. ( 26709970 )
2016
10
Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus. ( 27170606 )
2016
11
Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed with Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism. ( 26763073 )
2016
12
Pseudohypoparathyroidism Type IA Subclinical Hypothyroidism and Rapid Weight Gain weight As Early Clinical Signs. A clinical Study of 10 Cases. ( 27467896 )
2016
13
Isolated PTH Renal Resistance Pseudohypoparathyroidism 1b: A Rare Cause of Hypocalcemia. ( 27935921 )
2016
14
Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation. ( 27415614 )
2016
15
A novel mutation in a case of pseudohypoparathyroidism type Ia. ( 27922245 )
2016
16
Management of pseudohypoparathyroidism in pregnancy: a case report. ( 27981863 )
2016
17
Cinacalcet as adjunctive therapy in pseudohypoparathyroidism type 1b. ( 26628282 )
2016
18
Osteosarcoma in a Patient with Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q. ( 27859596 )
2016
19
Neuropsychiatric phenotype in a child with pseudohypoparathyroidism. ( 27857805 )
2016
20
Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon? ( 27121328 )
2016
21
Hypocalcemic Cardiomyopathy and Pseudohypoparathyroidism Due to Severe Vitamin D Deficiency. ( 27739274 )
2016
22
From Pseudohypoparathyroidism to inactivating PTH/PTHrP Signalling Disorder (iPPSD), a novel classification proposed by the European EuroPHP network. ( 27401862 )
2016
23
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption. ( 27871293 )
2016
24
Hypoparathyroidism and pseudohypoparathyroidism: etiology, laboratory features and complications. ( 27901178 )
2016
25
Cataract in pseudohypoparathyroidism. ( 27492110 )
2016
26
Longitudinal Observation in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation of the GNAS Gene. ( 27425121 )
2016
27
Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b. ( 27253667 )
2016
28
Pseudohypoparathyroidism and GsI+-cAMP-linked disorders: current view and open issues. ( 27109785 )
2016
29
The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link? ( 27703483 )
2016
30
Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia. ( 27882740 )
2016
31
Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels. ( 26855372 )
2016
32
Pseudohypoparathyroidism: one gene, several syndromes. ( 27995443 )
2016
33
Intracranial Cortical Calcifications in a Focal Epilepsy Patient with Pseudohypoparathyroidism. ( 27390678 )
2016
34
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects. ( 26819647 )
2016
35
Paroxysmal kinesigenic dyskinesia in pseudohypoparathyroidism: Is basal ganglia calcification a necessary finding? ( 26187296 )
2015
36
Analysis of Multiple Families with Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion. ( 26479409 )
2015
37
Families of Pseudohypoparathyroidism presenting as Seizure. ( 27608698 )
2015
38
Diagnosis and management of congenital hypothyroidism associated with pseudohypoparathyroidism. ( 25591844 )
2015
39
Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. ( 25843330 )
2015
40
Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus. ( 25710380 )
2015
41
Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS. ( 25464124 )
2015
42
An epigenetic cause of seizures and brain calcification: pseudohypoparathyroidism. ( 25943944 )
2015
43
Novel Microdeletions Affecting the GNAS Locus in Pseudohypoparathyroidism: Characterization of the Underlying Mechanisms. ( 25594858 )
2015
44
Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B). ( 25997889 )
2015
45
Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene. ( 26401884 )
2015
46
A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene. ( 25802881 )
2015
47
Increased Prevalence of Sleep Apnea in Children with Pseudohypoparathyroidism Type 1a. ( 25925491 )
2015
48
Genetic and epigenetic defects at the GNAS locus cause different forms of pseudohypoparathyroidism. ( 25882888 )
2015
49
A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects. ( 26367199 )
2015
50
Acrodysostosis: A new form of pseudohypoparathyroidism? ( 25890446 )
2015

Variations for Pseudohypoparathyroidism

Copy number variations for Pseudohypoparathyroidism from CNVD:

7
id 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

GO Terms for Pseudohypoparathyroidism

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

id 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 13)
id Name GO ID Score Top Affiliating Genes
1 activation of adenylate cyclase activity GO:0007190 9.52 GNAL GNAS
2 bone mineralization GO:0030282 9.51 BGLAP PTH1R
3 positive regulation of cAMP biosynthetic process GO:0030819 9.5 GNAS PTH PTHLH
4 bone resorption GO:0045453 9.49 PTH PTH1R
5 response to vitamin D GO:0033280 9.48 BGLAP PTH
6 negative regulation of chondrocyte differentiation GO:0032331 9.46 PTH PTHLH
7 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 9.43 GNAL GNAS
8 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.4 PTH PTH1R
9 response to parathyroid hormone GO:0071107 9.37 GNAS PTH
10 skeletal system development GO:0001501 9.35 BGLAP GNAS PTH PTH1R PTHLH
11 osteoblast development GO:0002076 9.33 BGLAP PTH1R PTHLH
12 cAMP metabolic process GO:0046058 9.26 PTH 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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