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 57 12 53 59 29 13 6 44 15 40 72
Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance 57 53
Pseudo-Pseudohypoparathyroidism 53 55
Pphp 57 53
Albright Hereditary Osteodystrophy-Pphp Syndrome 59
Normocalcemic Pseudohypoparathyroidism 12
Pseudopseudo-Hypoparathyroidism 53
Pseudohypoparathyroidism 72
Aho-Pphp Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
pseudopseudohypoparathyroidism
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
pseudopseudohypoparathyroidism:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:4183
OMIM 57 612463
MeSH 44 D011556
NCIt 50 C129722
SNOMED-CT 68 58833000 8084001
MESH via Orphanet 45 D011556
ICD10 via Orphanet 34 E20.1
UMLS via Orphanet 73 C0033835
Orphanet 59 ORPHA79445
MedGen 42 C0033835
UMLS 72 C0033806 C0033835

Summaries for Pseudopseudohypoparathyroidism

NIH Rare Diseases : 53 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 hypoparathyroidism and brachydactyly. An important gene associated with Pseudopseudohypoparathyroidism is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Presynaptic function of Kainate receptors and G alpha (s) signalling events. The drugs Theophylline and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and eye, and related phenotypes are intellectual disability and short neck

OMIM : 57 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 : 75 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 112)
# Related Disease Score Top Affiliating Genes
1 hypoparathyroidism 30.8 PTHLH PTH
2 brachydactyly 30.2 PTHLH HDAC4 GNAS
3 osteitis fibrosa 30.2 PTH GNAS
4 hypothyroidism, congenital, nongoitrous, 1 30.1 STX16 GNAS
5 pseudohypoparathyroidism 30.0 STX16 PTHLH PTH GNAS
6 hyperparathyroidism 29.5 PTHLH PTH
7 hyperphosphatemia 29.4 STX16 PTH GNAS
8 brachydactyly, type e2 29.2 PTHLH GNAS GNA11
9 pseudohypoparathyroidism, type ia 11.6
10 pseudohypoparathyroidism with albright hereditary osteodystrophy 11.6
11 acrodysostosis 11.2
12 osseous heteroplasia, progressive 10.2
13 gonadal dysgenesis 10.2
14 juxtacortical osteosarcoma 10.2 PTHLH GNAS
15 hypopituitarism 10.2
16 pseudohypoparathyroidism, type ii 10.2
17 brachydactyly, type e1 10.1
18 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
19 turner syndrome 10.1
20 extraskeletal chondroma 10.1 PTHLH PTH
21 sclerosing hepatic carcinoma 10.1 PTHLH PTH
22 hypothyroidism 10.1
23 disorders of gnas inactivation 10.1
24 growth hormone deficiency 10.1
25 invasive malignant thymoma 10.1 PTHLH PTH
26 peripheral osteosarcoma 10.1 PTHLH GNAS
27 clear cell adenoma 10.1 PTHLH PTH
28 connective tissue benign neoplasm 10.1 PTH GNAS
29 oncogenic osteomalacia 10.1 PTHLH PTH
30 hypercalcemia, infantile, 1 10.1 PTHLH PTH
31 cloacogenic carcinoma 10.0 PTHLH PTH
32 neurofibromatosis, type ii 10.0
33 brachydactyly, combined b and e types 10.0
34 peripheral dysostosis 10.0
35 trichorhinophalangeal syndrome, type i 10.0
36 body mass index quantitative trait locus 11 10.0
37 body mass index quantitative trait locus 9 10.0
38 body mass index quantitative trait locus 8 10.0
39 body mass index quantitative trait locus 4 10.0
40 body mass index quantitative trait locus 10 10.0
41 body mass index quantitative trait locus 7 10.0
42 body mass index quantitative trait locus 12 10.0
43 body mass index quantitative trait locus 14 10.0
44 body mass index quantitative trait locus 18 10.0
45 body mass index quantitative trait locus 19 10.0
46 body mass index quantitative trait locus 20 10.0
47 ptosis 10.0
48 rickets 10.0
49 dementia 10.0
50 amenorrhea 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:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 occasional (7.5%) HP:0001249
2 short neck 32 HP:0000470
3 obesity 32 HP:0001513
4 nystagmus 32 HP:0000639
5 cataract 32 HP:0000518
6 depressed nasal bridge 32 HP:0005280
7 short stature 32 HP:0004322
8 cognitive impairment 32 HP:0100543
9 osteoporosis 32 HP:0000939
10 full cheeks 32 HP:0000293
11 delayed eruption of teeth 32 HP:0000684
12 brachydactyly 32 HP:0001156
13 round face 32 HP:0000311
14 short metacarpal 32 HP:0010049
15 pseudohypoparathyroidism 32 HP:0000852
16 short metatarsal 32 HP:0010743
17 hypoplasia of dental enamel 32 HP:0006297

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Head And Neck Eyes:
nystagmus
cataract

Skeletal:
osteoporosis

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

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

Growth Height:
short stature

Head And Neck Face:
full cheeks
round face

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

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.77 GNA11 GNAS HDAC4 PTHLH STX16
2 craniofacial MP:0005382 9.65 GNA11 GNAS HDAC4 PTH PTHLH
3 growth/size/body region MP:0005378 9.63 GNA11 GNAS HDAC4 PTH PTHLH STX16
4 cardiovascular system MP:0005385 9.62 GNA11 GNAS PTH PTHLH
5 limbs/digits/tail MP:0005371 9.26 GNA11 GNAS PTH PTHLH
6 skeleton MP:0005390 9.1 GNA11 GNAS HDAC4 PTH PTHLH STX16

Drugs & Therapeutics for Pseudopseudohypoparathyroidism

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

(show all 30)
# 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 94-09-7, 1994-09-7 2337
4 Neurotransmitter Agents Phase 4
5 Purinergic P1 Receptor Antagonists Phase 4
6 Respiratory System Agents Phase 4
7 Phosphodiesterase Inhibitors Phase 4
8 Anti-Asthmatic Agents Phase 4
9 Autonomic Agents Phase 4
10 Vasodilator Agents Phase 4
11 Peripheral Nervous System Agents Phase 4
12 Bronchodilator Agents Phase 4
13
Parathyroid hormone Approved, Investigational 9002-64-6
14
Calcium Approved, Nutraceutical 7440-70-2 271
15
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
16
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
17
Calcitriol Approved, Nutraceutical 32222-06-3 5280453 134070
18 Mitogens
19 Hormones
20 Calcium, Dietary
21 Hormone Antagonists
22 Micronutrients
23 Trace Elements
24 Vitamin D2
25 Vitamins
26 Nutrients
27 Ergocalciferols
28 Calciferol
29 Bone Density Conservation Agents
30 Hormones, Hormone Substitutes, and Hormone Antagonists

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:

41
Bone, Skin, Eye, Thyroid, Spinal Cord, Brain, Kidney

Publications for Pseudopseudohypoparathyroidism

Articles related to Pseudopseudohypoparathyroidism:

(show top 50) (show all 231)
# Title Authors PMID Year
1
GNAS locus and pseudohypoparathyroidism. 38 8 71
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. 38 8 71
9506752 1998
3
Pseudohypoparathyroidism: report on a family with four affected sisters. 38 8 71
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. 8 71
9727013 1998
5
Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. 8 71
2122458 1990
6
Disorders of GNAS Inactivation 38 71
29072892 2017
7
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. 38 71
11600516 2001
8
Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. 38 71
11095461 2000
9
Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy. 38 71
10487696 1999
10
GNAS1 mutational analysis in pseudohypoparathyroidism. 38 71
9876352 1998
11
Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy. 38 8
7853365 1994
12
Pseudohypoparathyroidism: defective excretion of 3',5'-AMP in response to parathyroid hormone. 38 8
4309802 1969
13
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. 71
18553568 2008
14
Mutations in the Gs alpha gene causing hormone resistance. 8
17161328 2006
15
GNAS1 mutations and progressive osseous heteroplasia. 71
12024004 2002
16
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. 71
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. 71
10200251 1999
18
Imprinting in Albright's hereditary osteodystrophy. 8
8383205 1993
19
A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy. 71
1505964 1992
20
Albright's hereditary osteodystrophy: a review. 8
6278930 1982
21
Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity. 8
6265935 1981
22
Pseudohypoparathyroidism. Variable manifestations within a family. 8
931429 1977
23
Autosomal dominant inheritance in Albright's hereditary osteodystrophy. 8
5125407 1971
24
Pseudo-pseudohypoparathyroidism. 8
13005676 1952
25
Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism. 9 38
11294659 2001
26
Management of pseudohypoparathyroidism. 38
31145125 2019
27
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders. 38
31041856 2019
28
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. 38
31186545 2019
29
KBG syndrome presenting with brachydactyly type E. 38
30877071 2019
30
Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis. 38
30962325 2019
31
Presentation of pseudohypoparathyroidism and pseudopseudohypoparathyroidism with skin lesions: Case reports and review. 38
30809832 2019
32
A Case of Soft Tissue Ossifications: A Case Report. 38
31085937 2019
33
A Heterozygous Splice-Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals. 38
30458061 2019
34
Cooperative activation of O-H and S-H bonds across the Co-P bond of an N-heterocyclic phosphido complex. 38
30758361 2019
35
Intracranial vascular calcification with extensive white matter changes in an autopsy case of pseudopseudohypoparathyroidism. 38
30430658 2019
36
A pilot study of the effect of ezetimibe for postprandial hyperlipidemia. 38
30431570 2018
37
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity. 38
29693731 2018
38
Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood. 38
30357083 2018
39
Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia. 38
30060753 2018
40
Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism. 38
29947179 2018
41
Pseudopseudohypoparathyroidism: A Diagnostic Consideration in a Patient with Brachydactyly. 38
29429567 2018
42
Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI. 38
29059381 2018
43
Brachydactyly mental retardation syndrome with growth hormone deficiency. 38
30087780 2018
44
Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder. 38
29280743 2017
45
Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes. 38
28162874 2017
46
Pseudohypoparathyroidism: one gene, several syndromes. 38
27995443 2017
47
Erratum to «Pseudopseudohypoparathyroidism vs. progressive osseous heteroplasia in absence of family history». 38
28073519 2017
48
Quinovosamycins: new tunicamycin-type antibiotics in which the α, β-1″,11'-linked N-acetylglucosamine residue is replaced by N-acetylquinovosamine. 38
27189123 2016
49
[Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance]. 38
27813477 2016
50
[Pseudopseudohypoparathyroidism vs progressive osseous heteroplasia in absence of family history]. 38
25865609 2015

Variations for Pseudopseudohypoparathyroidism

ClinVar genetic disease variations for Pseudopseudohypoparathyroidism:

6 (show all 21)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GNAS NM_001077488.4(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 20:57466866-57466866 20:58891811-58891811
2 GNAS NM_001077488.4(GNAS): c.435+1G> A single nucleotide variant Pathogenic rs1555889131 20:57478847-57478847 20:58903792-58903792
3 GNAS GNAS, IVS10DS, G-C, +1 single nucleotide variant Pathogenic
4 GNAS GNAS, 1-BP DEL, 725C deletion Pathogenic
5 GNAS GNAS, 38-BP DEL, EX1/IVS1 BOUNDARY deletion Pathogenic
6 GNAS NM_001077488.4(GNAS): c.568_571del (p.Asp190fs) deletion Pathogenic rs587776829 20:57484251-57484254 20:58909196-58909199
7 GNAS NM_001077488.4(GNAS): c.775_776delinsGC (p.Arg259Ala) indel Pathogenic rs137854536 20:57484792-57484793 20:58909737-58909738
8 GNAS GNAS, GLN170ALA undetermined variant Pathogenic
9 GNAS GNAS, 2-BP DEL, GA, EXON 8 deletion Pathogenic
10 GNAS GNAS, 2-BP DEL, CT, EXON 4 deletion Pathogenic
11 GNAS GNAS, 1-BP DEL, C, EXON 1 deletion Pathogenic
12 GNAS NM_001077488.4(GNAS): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs797045046 20:57466815-57466815 20:58891760-58891760
13 GNAS NM_001077488.4(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854530 20:57466782-57466782 20:58891727-58891727
14 GNAS NM_001077488.4(GNAS): c.756C> G (p.Ser252Arg) single nucleotide variant Likely pathogenic 20:57484773-57484773 20:58909718-58909718
15 GNAS NM_001077488.4(GNAS): c.303A> C (p.Lys101Asn) single nucleotide variant Likely pathogenic 20:57478628-57478628 20:58903573-58903573
16 GNAS NM_001077488.4(GNAS): c.347C> T (p.Pro116Leu) single nucleotide variant Likely pathogenic rs137854539 20:57478758-57478758 20:58903703-58903703
17 GNAS NM_080425.3(GNAS): c.475G> A (p.Glu159Lys) single nucleotide variant Likely pathogenic rs1135401777 20:57428795-57428795 20:58853740-58853740
18 GNAS NM_001077488.4(GNAS): c.775C> T (p.Arg259Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137854535 20:57484792-57484792 20:58909737-58909737
19 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 20:57429520-57429520 20:58854465-58854465
20 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 20:57429775-57429775 20:58854720-58854720
21 GNAS NM_001077490.2(GNAS): c.1235C> T (p.Pro412Leu) single nucleotide variant Uncertain significance 20:57429742-57429742 20:58854687-58854687

Expression for Pseudopseudohypoparathyroidism

Search GEO for disease gene expression data for Pseudopseudohypoparathyroidism.

Pathways for Pseudopseudohypoparathyroidism

GO Terms for Pseudopseudohypoparathyroidism

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

# Name GO ID Score Top Affiliating Genes
1 trans-Golgi network membrane GO:0032588 8.96 STX16 GNAS
2 heterotrimeric G-protein complex GO:0005834 8.62 GNAS GNA11

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.76 PTHLH PTH GNAS GNA11
2 response to drug GO:0042493 9.61 PTH HDAC4 GNAS
3 female pregnancy GO:0007565 9.49 PTHLH GNAS
4 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.48 GNAS GNA11
5 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.43 PTHLH PTH GNAS
6 osteoblast development GO:0002076 9.37 PTHLH HDAC4
7 negative regulation of chondrocyte differentiation GO:0032331 9.32 PTHLH PTH
8 response to parathyroid hormone GO:0071107 9.16 PTH GNAS
9 bone mineralization GO:0030282 9.1 PTHLH
10 skeletal system development GO:0001501 9.02 PTHLH PTH HDAC4 GNAS GNA11
11 cAMP metabolic process GO:0046058 8.96 PTHLH PTH

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.32 PTHLH PTH
2 G protein-coupled receptor binding GO:0001664 9.26 GNAS GNA11
3 G-protein beta/gamma-subunit complex binding GO:0031683 9.16 GNAS GNA11
4 guanyl nucleotide binding GO:0019001 8.96 GNAS GNA11
5 peptide hormone receptor binding GO:0051428 8.62 PTHLH PTH

Sources for Pseudopseudohypoparathyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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