PPHP
MCID: PSD014
MIFTS: 56

Pseudopseudohypoparathyroidism (PPHP)

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

Aliases & Classifications for Pseudopseudohypoparathyroidism

MalaCards integrated aliases for Pseudopseudohypoparathyroidism:

Name: Pseudopseudohypoparathyroidism 56 12 52 58 29 13 6 43 15 39 71
Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance 56 52
Pseudo-Pseudohypoparathyroidism 52 54
Pphp 56 52
Albright Hereditary Osteodystrophy-Pphp Syndrome 58
Normocalcemic Pseudohypoparathyroidism 12
Pseudopseudo-Hypoparathyroidism 52
Pseudohypoparathyroidism 71
Aho-Pphp Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
pseudopseudohypoparathyroidism
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
see also pseudohypoparathyroidism type ia
caused by inheritance of the mutation on the paternal allele (imprinting)


HPO:

31
pseudopseudohypoparathyroidism:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Rare bone diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:4183
OMIM 56 612463
MeSH 43 D011556
NCIt 49 C129722
SNOMED-CT 67 58833000 8084001
MESH via Orphanet 44 D011556
ICD10 via Orphanet 33 E20.1
UMLS via Orphanet 72 C0033835
Orphanet 58 ORPHA79445
MedGen 41 C0033835
UMLS 71 C0033806 C0033835

Summaries for Pseudopseudohypoparathyroidism

NIH Rare Diseases : 52 Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature , round face, and short hand bones. PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain. Some people with PPHP (10%) also have learning disability. PHPP is caused by mutations in the GNAS gene and is inherited in an autosomal dominant fashion. This condition is usually inherited from the father (genomic imprinting ). PPHP is genetically related to pseudohypoparathyroidism type Ia (PHP-1a). Signs and symptoms are similar, however people with PPHP do not show resistance to parathyroid hormone while people with PHP-1a do. Obesity is characteristic for PHP-1a and may be severe, while obesity is less prominent and may be absent among people with PPHP. Both PHP-1a and PPHP are caused by mutations that affect the function of the GNAS gene. But people who inherit the mutation from their mother develop PHP-1a; whereas those who inherit the mutation from their father develop PPHP.

MalaCards based summary : Pseudopseudohypoparathyroidism, also known as albright hereditary osteodystrophy without multiple hormone resistance, is related to osteitis fibrosa and disorders of gnas inactivation. An important gene associated with Pseudopseudohypoparathyroidism is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Signaling by GPCR and Sweet Taste Signaling. The drugs Theophylline and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, pituitary and skin, and related phenotypes are intellectual disability and short neck

OMIM : 56 Patients with pseudopseudohypoparathyroidism do not show resistance to parathyroid hormone (PTH; 168450) or other hormones, as is the case with PHP1A (103580), but do manifest the constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006). PPHP occurs only after paternal inheritance of the molecular defect, whereas PHP1A occurs only after maternal inheritance of the molecular defect (see Inheritance and Pathogenesis below). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele (Davies and Hughes, 1993; Wilson et al., 1994). For a general phenotypic description, classification, and a discussion of molecular genetics of pseudohypoparathyroidism, see PHP1A (103580). (612463)

Wikipedia : 74 Pseudopseudohypoparathyroidism (PPHP) is an inherited disorder, named for its similarity to... more...

Related Diseases for Pseudopseudohypoparathyroidism

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

(show top 50) (show all 127)
# Related Disease Score Top Affiliating Genes
1 osteitis fibrosa 30.4 PTH GNAS
2 disorders of gnas inactivation 30.2 STX16 GNAS-AS1 GNAS
3 hyperphosphatemia 30.2 STX16 PTH GNAS
4 fibrous dysplasia 30.1 PTHLH GNAS GHRH
5 hyperparathyroidism 29.9 PTHLH PTH PRKAR1A
6 hypoparathyroidism 29.5 PTHLH PTH PRKAR1A GNAS GNA11
7 acrodysostosis 29.3 STX16 PTHLH PTH PRKAR1A PLPPR3 PDE4D
8 pseudohypoparathyroidism 28.9 STX16 PTHLH PTH PRKAR1A PDE4D GNAS-AS1
9 brachydactyly 28.3 STX16 PTHLH PTH PRKAR1A PDE4D HDAC4
10 pseudohypoparathyroidism, type ia 27.9 STX16 PTHLH PTH PRKAR1A PLPPR3 PDE4D
11 hypothyroidism, congenital, nongoitrous, 1 27.5 STX16 PTH PRKAR1A PDE4D GNAS-AS1 GNAS
12 pediatric ovarian germ cell tumor 10.4 PTHLH PTH
13 malignant ovarian brenner tumor 10.4 PTHLH PTH
14 pediatric ovarian dysgerminoma 10.3 PTHLH PTH
15 oncogenic osteomalacia 10.3 PTHLH PTH
16 sclerosing hepatic carcinoma 10.3 PTHLH PTH
17 hypercalcemia, infantile, 1 10.3 PTHLH PTH
18 hypervitaminosis d 10.3 PTHLH PTH
19 multiple enchondromatosis, maffucci type 10.2 PTHLH GNAS
20 bone benign neoplasm 10.2 PTH GNAS
21 charcot-marie-tooth disease, dominant intermediate f 10.2 GNA15 GNA11
22 osseous heteroplasia, progressive 10.2
23 gonadal dysgenesis 10.2
24 hypocalciuric hypercalcemia, familial, type i 10.2 PTH GNA11
25 epileptic encephalopathy, early infantile, 17 10.2 GNA15 GNA11
26 hypocalciuric hypercalcemia, familial, type ii 10.2 PTH GNA11
27 hypocalciuric hypercalcemia, familial, type iii 10.2 PTH GNA11
28 metaphyseal chondrodysplasia, jansen type 10.2 PTHLH PTH GNAS
29 pyle disease 10.2 PTHLH PTH GNAS
30 enchondromatosis, multiple, ollier type 10.2 PTHLH PTH GNAS
31 hypopituitarism 10.2
32 pseudohypoparathyroidism, type ii 10.2
33 brachydactyly, type e1 10.1
34 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
35 turner syndrome 10.1
36 ossifying fibroma 10.1 PTH GNAS
37 hypothyroidism 10.1
38 growth hormone deficiency 10.1
39 bone development disease 10.1 PTHLH PTH GNAS
40 metal metabolism disorder 10.1 STX16 PTH GNAS
41 pituitary carcinoma 10.1 GNAS GHRH
42 familial hypocalciuric hypercalcemia 10.1 PTHLH PTH GNA11
43 nerve compression syndrome 10.1 PTH GHRH
44 connective tissue benign neoplasm 10.1 PTH GNAS
45 neurofibromatosis, type ii 10.0
46 brachydactyly, combined b and e types 10.0
47 peripheral dysostosis 10.0
48 trichorhinophalangeal syndrome, type i 10.0
49 ptosis 10.0
50 rickets 10.0

Graphical network of the top 20 diseases related to Pseudopseudohypoparathyroidism:



Diseases related to Pseudopseudohypoparathyroidism

Symptoms & Phenotypes for Pseudopseudohypoparathyroidism

Human phenotypes related to Pseudopseudohypoparathyroidism:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 short neck 31 HP:0000470
3 obesity 31 HP:0001513
4 nystagmus 31 HP:0000639
5 cataract 31 HP:0000518
6 depressed nasal bridge 31 HP:0005280
7 brachydactyly 31 HP:0001156
8 short stature 31 HP:0004322
9 short metacarpal 31 HP:0010049
10 cognitive impairment 31 HP:0100543
11 osteoporosis 31 HP:0000939
12 full cheeks 31 HP:0000293
13 delayed eruption of teeth 31 HP:0000684
14 round face 31 HP:0000311
15 pseudohypoparathyroidism 31 HP:0000852
16 short metatarsal 31 HP:0010743
17 hypoplasia of dental enamel 31 HP:0006297

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Head And Neck Eyes:
nystagmus
cataract

Skeletal Feet:
brachydactyly
short metatarsals (especially 4th and 5th)

Skeletal:
osteoporosis

Head And Neck Nose:
low nasal bridge

Skin Nails Hair Skin:
subcutaneous ossifications

Laboratory Abnormalities:
reduced erythrocyte gs activity
normal urinary cyclic amp response to pth administration

Growth Weight:
obesity

Skeletal Hands:
brachydactyly
short metacarpals (especially 4th and 5th)

Growth Height:
short stature

Head And Neck Face:
full cheeks
round face

Head And Neck Teeth:
delayed tooth eruption
enamel hypoplasia

Neurologic Central Nervous System:
cognitive deficits
mental retardation (less common)

Endocrine Features:
no hormone resistance

Clinical features from OMIM:

612463

MGI Mouse Phenotypes related to Pseudopseudohypoparathyroidism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 GNA11 GNAS HDAC4 PRKAR1A PTH PTHLH
2 skeleton MP:0005390 9.23 GHRH GNA11 GNAS HDAC4 PRKAR1A PTH

Drugs & Therapeutics for Pseudopseudohypoparathyroidism

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

(show all 25)
# 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 Neurotransmitter Agents Phase 4
5 Anti-Asthmatic Agents Phase 4
6 Autonomic Agents Phase 4
7 Vasodilator Agents Phase 4
8 Respiratory System Agents Phase 4
9 Phosphodiesterase Inhibitors Phase 4
10 Bronchodilator Agents Phase 4
11
Parathyroid hormone Approved, Investigational 9002-64-6
12
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
13
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
14
Calcium Approved, Nutraceutical 7440-70-2 271
15 Mitogens
16 Hormones
17 Trace Elements
18 Vitamins
19 Micronutrients
20 Nutrients
21 Ergocalciferols
22 Hormone Antagonists
23 Vitamin D2
24 Calciferol
25 Calcium, Dietary

Interventional clinical trials:

(show all 15)
# 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 Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia) Unknown status NCT00497484 recombinant human somatotropin
5 Study of the Regulation of Parathyroid Hormone Secretion in Pseudohypoparathyroidism Completed NCT00004661
6 Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism Completed NCT02411461
7 Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism in Denmark - Epidemiology, Causes, Symptoms and Prognoses Completed NCT01498341
8 Studies in Phosphorus Metabolism Completed NCT00066183
9 Physiologic Regulation of FGF-23 Completed NCT00356512
10 Glucose Homeostasis and Beta Cell Function in Pseudohypoparathyroidism Recruiting NCT03761290
11 Studies of States With Resistance to Vitamin D and Parathyroid Hormone Recruiting NCT00001242
12 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
13 Family Studies in Metabolic Diseases and Mineral Metabolism Recruiting NCT00001345
14 Characterization of Patients With Idiopathic Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism Active, not recruiting NCT02551120
15 Altered Resting Energy Expenditure as a Cause of Obesity in Pseudohypoparathyroidism 1a: A Pilot Study Terminated NCT01398774

Search NIH Clinical Center for Pseudopseudohypoparathyroidism

Cochrane evidence based reviews: pseudopseudohypoparathyroidism

Genetic Tests for Pseudopseudohypoparathyroidism

Genetic tests related to Pseudopseudohypoparathyroidism:

# Genetic test Affiliating Genes
1 Pseudopseudohypoparathyroidism 29 GNAS

Anatomical Context for Pseudopseudohypoparathyroidism

MalaCards organs/tissues related to Pseudopseudohypoparathyroidism:

40
Bone, Pituitary, Skin, Eye, Adrenal Gland, Thyroid, Spinal Cord

Publications for Pseudopseudohypoparathyroidism

Articles related to Pseudopseudohypoparathyroidism:

(show top 50) (show all 236)
# Title Authors PMID Year
1
GNAS locus and pseudohypoparathyroidism. 61 56 6
15711092 2005
2
An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism. 61 56 6
9506752 1998
3
Pseudohypoparathyroidism: report on a family with four affected sisters. 61 56 6
219790 1979
4
A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation. 56 6
9727013 1998
5
Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. 56 6
2122458 1990
6
Disorders of GNAS Inactivation 61 6
29072892 2017
7
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. 61 6
11600516 2001
8
Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. 61 6
11095461 2000
9
Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy. 61 6
10487696 1999
10
GNAS1 mutational analysis in pseudohypoparathyroidism. 61 6
9876352 1998
11
Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy. 61 56
7853365 1994
12
Pseudohypoparathyroidism: defective excretion of 3',5'-AMP in response to parathyroid hormone. 61 56
4309802 1969
13
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. 6
18553568 2008
14
Mutations in the Gs alpha gene causing hormone resistance. 56
17161328 2006
15
GNAS1 mutations and progressive osseous heteroplasia. 6
12024004 2002
16
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. 6
11784876 2002
17
A mutation in the heterotrimeric stimulatory guanine nucleotide binding protein alpha-subunit with impaired receptor-mediated activation because of elevated GTPase activity. 6
10200251 1999
18
Imprinting in Albright's hereditary osteodystrophy. 56
8383205 1993
19
A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy. 6
1505964 1992
20
Albright's hereditary osteodystrophy: a review. 56
6278930 1982
21
Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity. 56
6265935 1981
22
Pseudohypoparathyroidism. Variable manifestations within a family. 56
931429 1977
23
Autosomal dominant inheritance in Albright's hereditary osteodystrophy. 56
5125407 1971
24
Pseudo-pseudohypoparathyroidism. 56
13005676 1952
25
Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism. 54 61
11294659 2001
26
Protein Phosphohistidine Phosphatases of the HP Superfamily. 61
31707654 2020
27
Mindfulness-based cognitive therapy for sexuality (MBCT-S) improves sexual functioning and intimacy among older women with epilepsy: A multicenter randomized controlled trial. 61
31759295 2019
28
Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations. 61
31886927 2019
29
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. 61
31186545 2019
30
Clinical and Molecular Characteristics of GNAS Inactivation Disorders Observed in 18 Korean Patients. 61
31546270 2019
31
Management of pseudohypoparathyroidism. 61
31145125 2019
32
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders. 61
31041856 2019
33
KBG syndrome presenting with brachydactyly type E. 61
30877071 2019
34
Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis. 61
30962325 2019
35
Presentation of pseudohypoparathyroidism and pseudopseudohypoparathyroidism with skin lesions: Case reports and review. 61
30809832 2019
36
A Case of Soft Tissue Ossifications: A Case Report. 61
31085937 2019
37
A Heterozygous Splice-Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals. 61
30458061 2019
38
Cooperative activation of O-H and S-H bonds across the Co-P bond of an N-heterocyclic phosphido complex. 61
30758361 2019
39
Intracranial vascular calcification with extensive white matter changes in an autopsy case of pseudopseudohypoparathyroidism. 61
30430658 2019
40
2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance. 61
31555217 2019
41
A pilot study of the effect of ezetimibe for postprandial hyperlipidemia. 61
30431570 2018
42
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity. 61
29693731 2018
43
Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood. 61
30357083 2018
44
Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia. 61
30060753 2018
45
Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism. 61
29947179 2018
46
Pseudopseudohypoparathyroidism: A Diagnostic Consideration in a Patient with Brachydactyly. 61
29429567 2018
47
Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI. 61
29059381 2018
48
Brachydactyly mental retardation syndrome with growth hormone deficiency. 61
30087780 2018
49
Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder. 61
29280743 2017
50
Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes. 61
28162874 2017

Variations for Pseudopseudohypoparathyroidism

ClinVar genetic disease variations for Pseudopseudohypoparathyroidism:

6 (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNAS NM_001077488.4(GNAS):c.842+1G>CSNV Pathogenic 15928 20:57484860-57484860 20:58909805-58909805
2 GNAS NM_001077488.4(GNAS):c.728del (p.Thr243fs)deletion Pathogenic 15929 20:57484745-57484745 20:58909690-58909690
3 GNAS NM_001077488.4(GNAS):c.568_571del (p.Asp190fs)deletion Pathogenic 15938 rs587776829 20:57484249-57484252 20:58909194-58909197
4 GNAS GNAS, 38-BP DEL, EX1/IVS1 BOUNDARYdeletion Pathogenic 15940
5 GNAS NM_001077488.4(GNAS):c.775_776delinsGC (p.Arg259Ala)indel Pathogenic 15942 rs137854536 20:57484792-57484793 20:58909737-58909738
6 GNAS GNAS, GLN170ALAundetermined variant Pathogenic 15943
7 GNAS GNAS, 2-BP DEL, GA, EXON 8deletion Pathogenic 15947
8 GNAS GNAS, 2-BP DEL, CT, EXON 4deletion Pathogenic 15948
9 GNAS GNAS, 1-BP DEL, C, EXON 1deletion Pathogenic 15950
10 GNAS NM_001077488.4(GNAS):c.34C>T (p.Gln12Ter)SNV Pathogenic 209158 rs797045046 20:57466815-57466815 20:58891760-58891760
11 GNAS NM_001077488.4(GNAS):c.85C>T (p.Gln29Ter)SNV Pathogenic 374113 rs1057518907 20:57466866-57466866 20:58891811-58891811
12 GNAS NM_001077488.4(GNAS):c.435+1G>ASNV Pathogenic 446491 rs1555889131 20:57478847-57478847 20:58903792-58903792
13 GNAS NM_001077488.4(GNAS):c.1A>G (p.Met1Val)SNV Pathogenic/Likely pathogenic 15927 rs137854530 20:57466782-57466782 20:58891727-58891727
14 GNAS NM_001077488.4(GNAS):c.756C>G (p.Ser252Arg)SNV Likely pathogenic 617752 rs1272546759 20:57484773-57484773 20:58909718-58909718
15 GNAS NM_001077488.4(GNAS):c.303A>C (p.Lys101Asn)SNV Likely pathogenic 635042 rs1569015549 20:57478628-57478628 20:58903573-58903573
16 GNAS NM_001077488.4(GNAS):c.347C>T (p.Pro116Leu)SNV Likely pathogenic 15953 rs137854539 20:57478758-57478758 20:58903703-58903703
17 GNAS NM_080425.3(GNAS):c.475G>A (p.Glu159Lys)SNV Likely pathogenic 431104 rs1135401777 20:57428795-57428795 20:58853740-58853740
18 GNAS NM_001077488.4(GNAS):c.775C>T (p.Arg259Trp)SNV Conflicting interpretations of pathogenicity 15941 rs137854535 20:57484792-57484792 20:58909737-58909737
19 GNAS NM_001077490.2(GNAS):c.1235C>T (p.Pro412Leu)SNV Uncertain significance 584449 rs532475771 20:57429742-57429742 20:58854687-58854687
20 GNAS NM_080425.3(GNAS):c.1200C>A (p.Ala400=)SNV Uncertain significance 417934 rs908810796 20:57429520-57429520 20:58854465-58854465
21 GNAS NM_080425.3(GNAS):c.1455C>A (p.Ala485=)SNV Benign 417936 rs55890501 20:57429775-57429775 20:58854720-58854720

Expression for Pseudopseudohypoparathyroidism

Search GEO for disease gene expression data for Pseudopseudohypoparathyroidism.

Pathways for Pseudopseudohypoparathyroidism

Pathways related to Pseudopseudohypoparathyroidism according to GeneCards Suite gene sharing:

(show all 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.92 PTHLH PTH PRKAR1A PLPPR3 PDE4D HDAC4
2
Show member pathways
12.88 PRKAR1A PDE4D GNAS GNA15 GNA11
3
Show member pathways
12.86 PRKAR1A GNAS GNA15 GNA11 GHRH
4
Show member pathways
12.84 PRKAR1A GNAS GNA15 GNA11 GHRH
5
Show member pathways
12.76 PRKAR1A PDE4D HDAC4 GNAS GNA15 GNA11
6
Show member pathways
12.72 PRKAR1A GNAS GNA15 GNA11
7
Show member pathways
12.7 PRKAR1A GNAS GNA15 GNA11
8
Show member pathways
12.64 PRKAR1A GNAS GNA15 GNA11
9
Show member pathways
12.52 GNAS GNA15 GNA11 GHRH
10
Show member pathways
12.51 PRKAR1A GNAS GNA15 GNA11
11
Show member pathways
12.39 PRKAR1A GNAS GNA15 GNA11
12
Show member pathways
12.34 PRKAR1A PDE4D GNAS GNA11
13
Show member pathways
12.2 PTHLH PTH GNAS GHRH
14
Show member pathways
12.17 PRKAR1A GNA15 GNA11
15
Show member pathways
12.12 PRKAR1A GNAS GNA15 GNA11
16
Show member pathways
12.11 GNAS GNA15 GNA11
17
Show member pathways
12.03 PRKAR1A PDE4D GNAS
18
Show member pathways
11.88 PRKAR1A GNAS GNA11
19
Show member pathways
11.86 PRKAR1A GNAS GNA15 GNA11
20 11.75 GNAS GNA15 GNA11
21 11.74 GNAS GNA15 GNA11
22 11.72 PTHLH PTH PDE4D GNAS GHRH
23
Show member pathways
11.67 PRKAR1A PDE4D GNAS
24 11.63 PRKAR1A PDE4D GNAS
25 11.47 PTHLH PTH HDAC4
26 11.38 PTHLH PTH PDE4D GNAS GNA11
27 11.34 PRKAR1A GNAS GNA15 GNA11 GHRH
28 11.32 GNAS GNA15 GNA11
29 11.26 GNAS GNA15 GNA11
30 11.19 GNAS GNA15
31 11.18 GNA15 GNA11
32 10.99 PRKAR1A GNAS
33 10.85 GNAS GNA15 GNA11 GHRH
34
Show member pathways
10.81 GNA15 GNA11
35 10.61 PTHLH PTH PRKAR1A GNAS GNA11

GO Terms for Pseudopseudohypoparathyroidism

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

# Name GO ID Score Top Affiliating Genes
1 heterotrimeric G-protein complex GO:0005834 8.8 GNAS GNA15 GNA11

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.7 PTHLH PTH PDE4D GNAS GNA15 GNA11
2 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.54 GNAS GNA15 GNA11
3 renal water homeostasis GO:0003091 9.51 PRKAR1A GNAS
4 activation of phospholipase C activity GO:0007202 9.49 PTH GNA15
5 cellular response to glucagon stimulus GO:0071377 9.48 PRKAR1A GNAS
6 negative regulation of chondrocyte differentiation GO:0032331 9.46 PTHLH PTH
7 osteoblast development GO:0002076 9.43 PTHLH HDAC4
8 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.4 GNA15 GNA11
9 response to parathyroid hormone GO:0071107 9.32 PTH GNAS
10 cAMP metabolic process GO:0046058 9.26 PTHLH PTH
11 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.26 PTHLH PTH GNAS GHRH
12 skeletal system development GO:0001501 9.02 PTHLH PTH HDAC4 GNAS GNA11

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

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.71 GNAS GNA15 GNA11 GBP1
2 GTPase activity GO:0003924 9.67 GNAS GNA15 GNA11 GBP1
3 G protein-coupled receptor binding GO:0001664 9.5 GNAS GNA15 GNA11
4 cAMP binding GO:0030552 9.43 PRKAR1A PDE4D
5 G-protein beta/gamma-subunit complex binding GO:0031683 9.33 GNAS GNA15 GNA11
6 beta-2 adrenergic receptor binding GO:0031698 9.26 PDE4D GNAS
7 guanyl nucleotide binding GO:0019001 9.13 GNAS GNA15 GNA11
8 peptide hormone receptor binding GO:0051428 8.8 PTHLH PTH GHRH

Sources for Pseudopseudohypoparathyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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