MCID: PSD015
MIFTS: 55

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 20 58 36 29 54 6 44 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
MeSH 44 D011547
NCIt 50 C99027
SNOMED-CT 67 190867002
ICD10 32 E20.1
MESH via Orphanet 45 D011547
ICD10 via Orphanet 33 E20.1
UMLS via Orphanet 72 C0033806
Orphanet 58 ORPHA97593
UMLS 71 C0033806

Summaries for Pseudohypoparathyroidism

GARD : 20 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 eye, thyroid and skin, 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 392)
# Related Disease Score Top Affiliating Genes
1 pseudohypoparathyroidism, type ic 33.0 MC4R GNAS
2 pseudohypoparathyroidism, type ib 32.4 STX16 PTHLH PTH1R PTH GNAS-AS1 GNAS
3 pseudopseudohypoparathyroidism 32.1 STX16 PTHLH PTH PRKAR1A PDE4D GNAS-AS1
4 disorders of gnas inactivation 31.3 STX16 GNAS-AS1 GNAS
5 hyperphosphatemia 31.3 STX16 PTH GNAS BGLAP
6 acrodysostosis 31.2 STX16 PTHLH PTH1R PTH PRKAR1A PDE4D
7 pseudohypoparathyroidism, type ia 31.2 TRH STX16 PTHLH PTH1R PTH PRL
8 osseous heteroplasia, progressive 31.0 STX16 PTHLH PTH PRKAR1A PDE4D GNAS-AS1
9 hyperparathyroidism 30.5 PTHLH PTH PRKAR1A CALCA BGLAP
10 hypothyroidism, congenital, nongoitrous, 1 30.4 STX16 PTH PRKAR1A PDE4D GNAS-AS1 GNAS
11 secondary hyperparathyroidism 30.4 PTH1R PTH CALCA BGLAP
12 hypoparathyroidism 30.3 PTHLH PTH1R PTH PRKAR1A IGF1 GNAS
13 osteitis fibrosa 30.3 PTH GNAS CALCA BGLAP
14 beckwith-wiedemann syndrome 30.1 PRKAR1A IGF1 GNAS-AS1 GNAS
15 congenital hypothyroidism 30.1 TRH STX16 PRL IGF1 GNAS
16 osteomalacia 30.1 PTHLH PTH CALCA BGLAP
17 leptin deficiency or dysfunction 29.9 TRH MC4R LEP IGF1
18 bone disease 29.9 PTHLH PTH1R PTH IGF1 CALCA BGLAP
19 brachydactyly 29.8 TRPS1 STX16 REN PTHLH PTH PRKAR1A
20 chromosome 2q37 deletion syndrome 29.7 STX16 PTH PRKAR1A PDE4D GNAS-AS1 GNAS
21 empty sella syndrome 29.7 TRH PRL IGF1
22 sleep apnea 29.7 REN MC4R LEP IGF1
23 hypopituitarism 29.6 TRH PRL LEP IGF1
24 adrenal carcinoma 29.5 REN PRKAR1A GNAS
25 osteogenic sarcoma 29.4 PTHLH PTH1R PTH IGF1 BGLAP
26 central precocious puberty 29.4 LEP IGF1
27 hypothyroidism 29.4 TRH REN PRL LEP IGF1 GNAS
28 renal osteodystrophy 29.4 PTH1R PTH CALCA BGLAP
29 amenorrhea 29.3 TRH PRL LEP IGF1 BGLAP
30 hypocalcemia, autosomal dominant 1 29.3 PTHLH PTH PRKAR1A GNAS CALCA BGLAP
31 chronic kidney disease 29.2 REN PTH LEP IGF1 GNAS BGLAP
32 primary hyperparathyroidism 29.2 PTHLH PTH1R PTH PRL PRKAR1A IGF1
33 mccune-albright syndrome 29.2 PTHLH PRL PRKAR1A LEP IGF1 GNAS
34 bone resorption disease 29.2 PTHLH PTH1R PTH LEP IGF1 CALCA
35 hyperprolactinemia 29.2 TRH PTHLH PTH PRL IGF1 GNAS
36 prader-willi syndrome 29.1 TRH PRL MC4R LEP IGF1
37 goiter 29.1 TRH PRL IGF1 GNAS CALCA BGLAP
38 ovarian disease 29.0 REN PRL LEP IGF1
39 parathyroid adenoma 28.9 PTHLH PTH PRKAR1A IGF1 GNAS CALCA
40 body mass index quantitative trait locus 11 28.9 TRH REN PTH PRL MC4R LEP
41 adenoma 28.6 TRH REN PTH PRL PRKAR1A IGF1
42 hyperthyroidism 28.3 TRH PTH PRL LEP IGF1 GNAS
43 hypertension, essential 28.2 REN PTH PRL MC4R LEP IGF1
44 osteoporosis 28.1 PTHLH PTH1R PTH PRL PRKAR1A LEP
45 diabetes mellitus 28.0 REN PTH PRL MC4R LEP IGF1
46 conn's syndrome 27.9 TRH REN PRL PRKAR1A LEP IGF1
47 pseudohypoparathyroidism, type ii 11.6
48 pseudohypoparathyroidism without albright hereditary osteodystrophy 10.9
49 basal ganglia calcification, idiopathic, childhood-onset 10.9
50 rickets 10.4

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:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.34 APC GNAL GNAS IGF1 LEP MC4R
2 behavior/neurological MP:0005386 10.33 APC GNAL GNAS LEP MC4R PRKAR1A
3 homeostasis/metabolism MP:0005376 10.33 ADCY10 APC BGLAP GNAS IGF1 LEP
4 cardiovascular system MP:0005385 10.31 ADCY10 APC GNAS IGF1 LEP MC4R
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 16)
# 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 1994-09-7, 94-09-7 2337
4 Respiratory System Agents Phase 4
5 Anti-Asthmatic Agents Phase 4
6 Phosphodiesterase Inhibitors Phase 4
7 Neurotransmitter Agents Phase 4
8 Bronchodilator Agents Phase 4
9 Vasodilator Agents Phase 4
10
Parathyroid hormone Approved, Investigational 9002-64-6
11
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
12 Hormones
13 Calcium, Dietary
14 Vitamins
15 Calciferol
16
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 16)
# 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 Phase 2 Study of Theophylline Treatment for Pseudohypoparathyroidism Recruiting NCT04551170 Phase 2 Theophylline;Placebo
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 Characterization of Patients With Idiopathic Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism Unknown status NCT02551120
8 Study of the Regulation of Parathyroid Hormone Secretion in Pseudohypoparathyroidism Completed NCT00004661
9 Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism Completed NCT02411461
10 Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism in Denmark - Epidemiology, Causes, Symptoms and Prognoses Completed NCT01498341
11 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
12 Impaired Quality of Life and Cognitive Function in Patients With Hypoparathyroidism Might be Explained by Disturbed Capillary Flow Patterns in the Brain Recruiting NCT04569604
13 Studies of States With Resistance to Vitamin D and Parathyroid Hormone Recruiting NCT00001242
14 Glucose Homeostasis and Beta Cell Function in Pseudohypoparathyroidism Active, not recruiting NCT03761290
15 Autotaxin in Patients With GNAS/PTH Abnormalities Not yet recruiting NCT04671719
16 Altered Resting Energy Expenditure as a Cause of Obesity in Pseudohypoparathyroidism 1a: A Pilot Study Terminated NCT01398774

Search NIH Clinical Center for Pseudohypoparathyroidism

Cochrane evidence based reviews: 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
Eye, Thyroid, Skin, Spinal Cord, Bone, Kidney, Pituitary

Publications for Pseudohypoparathyroidism

Articles related to Pseudohypoparathyroidism:

(show top 50) (show all 1429)
# Title Authors PMID Year
1
A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency. 54 61 6
17299070 2007
2
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. 54 6 61
11600516 2001
3
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. 6 61 54
11450852 2001
4
Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. 54 6 61
11095461 2000
5
GNAS1 mutational analysis in pseudohypoparathyroidism. 61 6 54
9876352 1998
6
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. 6 61
18553568 2008
7
Human G(salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, a potential cell-specific role of the palmitoylation cycle. 61 6
17962410 2007
8
GNAS locus and pseudohypoparathyroidism. 6 61
15711092 2005
9
Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy. 61 6
10487696 1999
10
An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism. 61 6
9506752 1998
11
A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism. 6 61
9328353 1997
12
Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation. 61 6
8702665 1996
13
Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene. 6 61
8557265 1996
14
Pseudohypoparathyroidism: report on a family with four affected sisters. 6 61
219790 1979
15
Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a. 20 61
16675931 2006
16
GNAS1 mutations and progressive osseous heteroplasia. 6
12024004 2002
17
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. 6
11784876 2002
18
Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy. 6
11073544 2000
19
Conditional activation defect of a human Gsalpha mutant. 6
9159128 1997
20
A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy. 6
1505964 1992
21
Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. 6
2122458 1990
22
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. 6
2109828 1990
23
Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation. 54 61
19863504 2010
24
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
25
Identification of a novel GNAS mutation for pseudohypoparathyroidism in a Chinese family. 54 61
19381884 2009
26
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding. 54 61
19530187 2009
27
Pseudohypoparathyroidism type IA (PHP-Ia): maternally inherited GNAS gene mutation. 61 54
19449667 2009
28
New mutation type in pseudohypoparathyroidism type Ia. 61 54
18394017 2008
29
Preimplantation genetic diagnosis for severe albright hereditary osteodystrophy. 54 61
18089698 2008
30
Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha. 61 54
17803690 2008
31
[GNAS1 gene abnormality in pseudohypoparathyroidism I a]. 61 54
17660618 2007
32
Pseudohypoparathyroidism type 1a with congenital hypothyroidism. 61 54
16995592 2006
33
Multihormonal resistance to parathyroid hormone, thyroid stimulating hormone, and other hormonal and neurosensory stimuli in patients with pseudohypoparathyroidism. 54 61
16789631 2006
34
Genetics of pseudohypoparathyroidism types Ia and Ic. 61 54
16789628 2006
35
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
36
Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1. 61 54
16116826 2005
37
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene. 54 61
15817905 2005
38
Minireview: GNAS: normal and abnormal functions. 54 61
15331575 2004
39
Biallelic expression of the Gsalpha gene in human bone and adipose tissue. 54 61
15579796 2004
40
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. 61 54
15070926 2004
41
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. 61 54
12970262 2003
42
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
43
Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. 54 61
12621129 2003
44
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
45
The pseudohypoparathyroidism type lb locus is linked to a region including GNAS1 at 20q13.3. 54 61
12619926 2003
46
Pubertal development in patients with McCune-Albright syndrome or pseudohypoparathyroidism. 61 54
12729407 2003
47
Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets. 54 61
12374764 2002
48
Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a. 61 54
11926205 2002
49
[PTH/PTHrP receptor and pseudohypoparathyroidism]. 54 61
11857923 2002
50
GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. 61 54
11788646 2002

Variations for Pseudohypoparathyroidism

ClinVar genetic disease variations for Pseudohypoparathyroidism:

6 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNAS GNAS, IVS3AS, A-G, -12 SNV Pathogenic 15930
2 GNAS NM_016592.4(GNAS):c.*202T>C SNV Pathogenic 15931 rs137854531 20:57478624-57478624 20:58903569-58903569
3 GNAS NM_016592.4(GNAS):c.*656C>G SNV Pathogenic 15939 rs137854534 20:57484770-57484770 20:58909715-58909715
4 GNAS NM_016592.4(GNAS):c.*598G>A SNV Pathogenic 15946 rs137854538 20:57484608-57484608 20:58909553-58909553
5 GNAS GNAS, 2-BP DEL, TG, EXON 11 Deletion Pathogenic 15951
6 GNAS GNAS, 1-BP INS, A, EXON 3 Insertion Pathogenic 15957
7 GNAS GNAS, 12-BP INS, NT1107 Insertion Pathogenic 15958
8 GNAS NM_000516.6(GNAS):c.1A>G (p.Met1Val) SNV Pathogenic 15927 rs137854530 20:57466782-57466782 20:58891727-58891727
9 GNAS NM_000516.6(GNAS):c.839+1G>C SNV Pathogenic 15928 rs1601164378 20:57484860-57484860 20:58909805-58909805
10 GNAS NM_016592.4(GNAS):c.*631del Deletion Pathogenic 15929 rs1601163749 20:57484745-57484745 20:58909690-58909690
11 GNAS GNAS, 38-BP DEL, EX1/IVS1 BOUNDARY Deletion Pathogenic 15940
12 GNAS GNAS, 2-BP DEL, GA, EXON 8 Deletion Pathogenic 15947
13 GNAS GNAS, 2-BP DEL, CT, EXON 4 Deletion Pathogenic 15948
14 GNAS GNAS, 1-BP DEL, 348C Deletion Pathogenic 15949
15 GNAS GNAS, 1-BP DEL, C, EXON 1 Deletion Pathogenic 15950
16 GNAS NM_000516.6(GNAS):c.271A>T (p.Lys91Ter) SNV Pathogenic 691981 rs1601115202 20:57478599-57478599 20:58903544-58903544
17 GNAS NM_000516.6(GNAS):c.530+1G>T SNV Pathogenic 816649 rs113029858 20:57480536-57480536 20:58905481-58905481
18 GNAS NM_000516.6(GNAS):c.34C>T (p.Gln12Ter) SNV Pathogenic 209158 rs797045046 20:57466815-57466815 20:58891760-58891760
19 GNAS NM_000516.6(GNAS):c.1A>G (p.Met1Val) SNV Pathogenic 15927 rs137854530 20:57466782-57466782 20:58891727-58891727
20 GNAS NM_000516.6(GNAS):c.85C>T (p.Gln29Ter) SNV Pathogenic 374113 rs1057518907 20:57466866-57466866 20:58891811-58891811
21 GNAS NM_000516.5:c.(?_-424)_(257_?)dup Duplication Pathogenic 987921
22 GNAS NM_000516.6(GNAS):c.493C>T (p.Arg165Cys) SNV Pathogenic 15932 rs137854532 20:57480498-57480498 20:58905443-58905443
23 GNAS NM_016592.4(GNAS):c.*471_*474del Deletion Pathogenic 15938 rs587776829 20:57484249-57484252 20:58909194-58909197
24 GNAS NM_000516.6(GNAS):c.691C>T (p.Arg231Cys) SNV Pathogenic 816910 rs1601162438 20:57484607-57484607 20:58909552-58909552
25 GNAS NM_000516.6(GNAS):c.277C>T (p.Gln93Ter) SNV Pathogenic 635558 rs1601115231 20:57478605-57478605 20:58903550-58903550
26 GNAS NM_001309861.2(GNAS):c.-39+12144_-39+12151del Deletion Likely pathogenic 976346 20:57429074-57429081 20:58854019-58854026
27 GNAS NM_000516.7(GNAS):c.212+3_212+6del Deletion Likely pathogenic 981517 20:57470739-57470742 20:58895684-58895687
28 GNAS NM_080425.3(GNAS):c.475G>A (p.Glu159Lys) SNV Likely pathogenic 431104 rs1135401777 20:57428795-57428795 20:58853740-58853740
29 GNAS NM_000516.6(GNAS):c.880C>T (p.Gln294Ter) SNV Likely pathogenic 216937 rs863224876 20:57485046-57485046 20:58909991-58909991
30 GNAS NM_000516.6(GNAS):c.344C>T (p.Pro115Leu) SNV Likely pathogenic 15953 rs137854539 20:57478758-57478758 20:58903703-58903703
31 GNAS NM_000516.6(GNAS):c.137T>G (p.Leu46Arg) SNV Uncertain significance 689463 rs1600976255 20:57466918-57466918 20:58891863-58891863
32 GNAS NM_080425.3(GNAS):c.1200C>A (p.Ala400=) SNV Uncertain significance 417934 rs908810796 20:57429520-57429520 20:58854465-58854465
33 GNAS NM_080425.4(GNAS):c.1455C>A (p.Ala485=) SNV Uncertain significance 417936 rs55890501 20:57429775-57429775 20:58854720-58854720
34 GNAS NM_000516.6(GNAS):c.312+36C>T SNV Uncertain significance 816648 rs200066108 20:57478676-57478676 20:58903621-58903621
35 GNAS NM_000516.6(GNAS):c.366C>T (p.Pro122=) 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 cytoplasm GO:0005737 10 TRH STX16 REN PTHLH PTH1R PRKAR1A
2 extracellular space GO:0005615 9.56 REN PTHLH PTH PRL LEP IGF1
3 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 26)
# 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 response to drug GO:0042493 9.92 REN PTH GNAS BGLAP
4 cell-cell signaling GO:0007267 9.88 TRH PTHLH PTH CALCA
5 G protein-coupled receptor signaling pathway GO:0007186 9.81 TRH PTHLH PTH1R PTH PDE4D MC4R
6 cellular calcium ion homeostasis GO:0006874 9.8 PTH1R PTH CALCA
7 positive regulation of cold-induced thermogenesis GO:0120162 9.79 LEP GNAS APC
8 response to ethanol GO:0045471 9.78 TRH PTH LEP BGLAP
9 regulation of blood pressure GO:0008217 9.73 REN LEP CALCA
10 female pregnancy GO:0007565 9.73 PTHLH PRL LEP GNAS
11 response to nutrient levels GO:0031667 9.71 PTH PRL LEP BGLAP
12 bone mineralization GO:0030282 9.69 PTHLH PTH1R BGLAP
13 positive regulation of glycogen biosynthetic process GO:0045725 9.62 PTH IGF1
14 regulation of chondrocyte differentiation GO:0032330 9.6 TRPS1 PTHLH
15 sensory perception of chemical stimulus GO:0007606 9.59 GNAS GNAL
16 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 9.58 GNAS GNAL
17 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.57 PTH1R PTH
18 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.56 PTH1R MC4R GNAS GNAL
19 negative regulation of feeding behavior GO:2000252 9.55 TRH MC4R
20 bone mineralization involved in bone maturation GO:0035630 9.54 LEP IGF1
21 osteoblast development GO:0002076 9.54 PTHLH PTH1R BGLAP
22 response to parathyroid hormone GO:0071107 9.52 PTH GNAS
23 energy reserve metabolic process GO:0006112 9.5 MC4R LEP GNAS
24 skeletal system development GO:0001501 9.5 TRPS1 PTHLH PTH1R PTH IGF1 GNAS
25 cAMP metabolic process GO:0046058 9.49 PTHLH PTH
26 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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