MCID: PSD014
MIFTS: 55

Pseudopseudohypoparathyroidism

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

Aliases & Classifications for Pseudopseudohypoparathyroidism

MalaCards integrated aliases for Pseudopseudohypoparathyroidism:

Name: Pseudopseudohypoparathyroidism 57 12 53 59 29 13 6 44 15 40 73
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 73
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:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612463
Disease Ontology 12 DOID:4183
MeSH 44 D011556
Orphanet 59 ORPHA79445
ICD10 via Orphanet 34 E20.1
MESH via Orphanet 45 D011556
UMLS via Orphanet 74 C0033835
MedGen 42 C0033835
UMLS 73 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 acrodysostosis and pseudohypoparathyroidism. An important gene associated with Pseudopseudohypoparathyroidism is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are DAG and IP3 signaling and Sweet Taste Signaling. The drugs Theophylline and Anti-Asthmatic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and eye, and related phenotypes are full cheeks and round face

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 : 76 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 all 44)
# Related Disease Score Top Affiliating Genes
1 acrodysostosis 30.3 GNAS PDE4D PRKAR1A
2 pseudohypoparathyroidism 29.8 GNAS PTH STX16
3 albright's hereditary osteodystrophy 28.1 GNAS PDE4D PRKAR1A STX16
4 pseudohypoparathyroidism, type ia 11.3
5 osseous heteroplasia, progressive 11.1
6 brachydactyly 10.1
7 osteitis fibrosa 10.0 GNAS PTH
8 hypocalciuric hypercalcemia, familial, type iii 9.9 GNA11 PTH
9 gonadal dysgenesis 9.9
10 cell type benign neoplasm 9.9 GNAS PTH
11 hypocalciuric hypercalcemia, familial, type ii 9.9 GNA11 PTH
12 familial hypocalciuric hypercalcemia 9.8 GNA11 PTH
13 hormone producing pituitary cancer 9.8 GNAS PRKAR1A
14 growth hormone secreting pituitary adenoma 9.8 GNAS PRKAR1A
15 basal cell nevus syndrome 9.8
16 diabetes insipidus, nephrogenic, autosomal 9.8
17 pheochromocytoma 9.8
18 chromosome 2q37 deletion syndrome 9.8
19 body mass index quantitative trait locus 1 9.8
20 brachydactyly, type e2 9.8
21 atrioventricular block 9.8
22 fibrous dysplasia 9.8
23 polyneuropathy 9.8
24 cerebritis 9.8
25 diabetes insipidus 9.8
26 dwarfism 9.8
27 growth hormone deficiency 9.8
28 hemifacial spasm 9.8
29 spasticity 9.8
30 acrodysostosis with multiple hormone resistance 9.7 PDE4D PRKAR1A
31 carney complex variant 9.7 GNAS PRKAR1A
32 primary pigmented nodular adrenocortical disease 9.7 GNAS PRKAR1A
33 pituitary adenoma, prolactin-secreting 9.6 GNAS PRKAR1A
34 phosphorus metabolism disease 9.6 GNAS PTH STX16
35 pseudohypoparathyroidism, type ib 9.6 GNAS PTH STX16
36 metal metabolism disorder 9.6 GNAS PTH STX16
37 hypercalcemia, infantile, 1 9.6 PRKAR1A PTH
38 adrenocortical carcinoma, hereditary 9.6 GNAS PRKAR1A
39 hyperphosphatemia 9.6 GNAS PTH STX16
40 hypocalcemia, autosomal dominant 1 9.3 GNA11 GNAS PRKAR1A
41 primary hyperparathyroidism 9.2 PRKAR1A PTH
42 conn's syndrome 9.1 GNAS PRKAR1A
43 multiple endocrine neoplasia, type i 9.1 GNAS PRKAR1A PTH
44 hyperparathyroidism 9.1 PRKAR1A PTH

Graphical network of the top 20 diseases related to Pseudopseudohypoparathyroidism:



Diseases related to Pseudopseudohypoparathyroidism

Symptoms & Phenotypes for Pseudopseudohypoparathyroidism

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

Human phenotypes related to Pseudopseudohypoparathyroidism:

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

MGI Mouse Phenotypes related to Pseudopseudohypoparathyroidism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 GNA11 GNAS PRKAR1A PTH STX16
2 craniofacial MP:0005382 9.26 GNA11 GNAS PRKAR1A PTH
3 skeleton MP:0005390 9.02 GNA11 GNAS PRKAR1A PTH STX16

Drugs & Therapeutics for Pseudopseudohypoparathyroidism

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Theophylline Approved Phase 2 58-55-9 2153
2 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 ,Not Applicable
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)
# 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 Recruiting NCT03029429 Phase 2 Theophylline;Placebos
3 Characterization of Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism Unknown status NCT02551120
4 Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia) Unknown status NCT00497484 Not Applicable recombinant human somatotropin
5 Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism Completed NCT02411461
6 Study of the Regulation of Parathyroid Hormone Secretion in Pseudohypoparathyroidism Completed NCT00004661
7 Hypoparathyroidism in Denmark Completed NCT01498341
8 Physiologic Regulation of FGF-23 Completed NCT00356512
9 Serum Calcium to Phosphorous Ratio (Ca/P) as a Simple, Inexpensive Screening Tool in the Diagnosis of Primary Hyperparathyroidism Completed NCT03027349
10 Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments Recruiting NCT00209235 Not Applicable
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 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, Liver, Eye, Skin, Spinal Cord

Publications for Pseudopseudohypoparathyroidism

Articles related to Pseudopseudohypoparathyroidism:

(show top 50) (show all 53)
# Title Authors Year
1
Pseudopseudohypoparathyroidism: A Diagnostic Consideration in a Patient with Brachydactyly. ( 29429567 )
2018
2
Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism. ( 29947179 )
2018
3
Pseudopseudohypoparathyroidism. ( 25484027 )
2015
4
Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese. ( 24651309 )
2014
5
Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism. ( 23645122 )
2013
6
Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. ( 24127307 )
2013
7
Sinus pauses and high-grade atrioventricular block in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism. ( 23814007 )
2013
8
Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. ( 21521295 )
2011
9
Total knee arthroplasty in a patient with pseudopseudohypoparathyroidism. ( 21815586 )
2011
10
Osteoma cutis as the presenting feature of albright hereditary osteodystrophy associated with pseudopseudohypoparathyroidism. ( 20523775 )
2009
11
Pseudopseudohypoparathyroidism. ( 20109835 )
2009
12
Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha. ( 17803690 )
2008
13
Petrified ears associated with pseudopseudohypoparathyroidism. ( 18028504 )
2008
14
A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency. ( 17299070 )
2007
15
[Pseudopseudohypoparathyroidism and genomic imprinting]. ( 17660620 )
2007
16
Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity. ( 17164301 )
2007
17
Spastic tetraparesis in a patient with pseudopseudohypoparathyroidism. ( 12532935 )
2002
18
A patient with acute-onset HAM/TSP after blood transfusion complicated with pseudopseudohypoparathyroidism. ( 12413020 )
2002
19
STK25 is a candidate gene for pseudopseudohypoparathyroidism. ( 11543625 )
2001
20
[A case of HTLV-1 associated myelopathy (HAM) with pseudopseudohypoparathyroidism]. ( 11086403 )
2000
21
Lunatomalacia in pseudopseudohypoparathyroidism: a case report. ( 11140416 )
2000
22
Stimulatory guanine nucleotide binding protein subunit 1 mutation in two siblings with pseudohypoparathyroidism type 1a and mother with pseudopseudohypoparathyroidism. ( 10094437 )
1999
23
Type 2 diabetes in adults with pseudopseudohypoparathyroidism. Case report. ( 9727918 )
1998
24
An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism. ( 9506752 )
1998
25
Pseudopseudohypoparathyroidism, presenting with osteoma cutis. ( 9169361 )
1997
26
Military service and pseudopseudohypoparathyroidism: recognizing red flags for rare medical conditions. ( 9232985 )
1997
27
Radiological case of the month. Ectopic ossification and calcification in pseudohypoparathyroidism and pseudopseudohypoparathyroidism. ( 8646317 )
1996
28
Hemifacial spasm in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism and nephrogenic diabetes insipidus--case report. ( 7566382 )
1995
29
Pseudopseudohypoparathyroidism associated with idiopathic growth hormone deficiency. Role of treatment with biosynthetic growth hormone. ( 8282968 )
1993
30
Pseudopseudohypoparathyroidism and spinal cord compression. ( 1744651 )
1991
31
Pseudopseudohypoparathyroidism with recurrent polyneuropathy: an autopsy report with special reference to the peripheral nervous system. ( 1650818 )
1991
32
Familial growth hormone releasing factor deficiency in pseudopseudohypoparathyroidism. ( 2031618 )
1991
33
Pseudopseudohypoparathyroidism with spinal cord compression. ( 3174285 )
1988
34
The pattern of shortened hand and foot bones in D- and E-brachydactyly and pseudohypoparathyroidism/pseudopseudohypoparathyroidism. ( 2834801 )
1988
35
Case study of a family of pseudohypoparathyroidism and pseudopseudohypoparathyroidism. ( 3793685 )
1986
36
Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds. ( 3003142 )
1986
37
Genetic counseling in pseudopseudohypoparathyroidism. ( 4080740 )
1985
38
Pseudopseudohypoparathyroidism and pheochromocytoma. Association or coincidence? ( 6870447 )
1983
39
Familial brachymetacarpalia--pseudopseudohypoparathyroidism? ( 6961319 )
1982
40
Turner's syndrome and pseudopseudohypoparathyroidism. ( 7062476 )
1982
41
Normocalcemic pseudohypoparathyroidism (Type II). ( 6281182 )
1981
42
Deficient prolactin response to parathyroid hormone in hypocalcemic and normocalcemic pseudohypoparathyroidism. ( 6262363 )
1981
43
Normocalcemic pseudohypoparathyroidism. Association with normal vitamin D3 metabolism. ( 219689 )
1979
44
Pseudopseudohypoparathyroidism with fibrous dysplasia. ( 1119829 )
1975
45
Pseudopseudohypoparathyroidism: a case report. ( 1196179 )
1975
46
Pseudohypoparathyroidism (infant) and pseudopseudohypoparathyroidism (mother). ( 5442444 )
1970
47
Concurrence of features of pseudohypoparathyroidism, pseudopseudohypoparathyroidism and basal-cell nevus syndrome. ( 5480625 )
1970
48
Mineralization of the central nervous system in pseudopseudohypoparathyroidism (PPH). ( 5443472 )
1970
49
An association of pseudopseudohypoparathyroidism and gonadal dysgenesis with XO-XX mosaicism and negative sex chromatin pattern in two females. ( 5681646 )
1968
50
Pseudopseudohypoparathyroidism. ( 5719868 )
1968

Variations for Pseudopseudohypoparathyroidism

ClinVar genetic disease variations for Pseudopseudohypoparathyroidism:

6
(show all 27)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAS GNAS, IVS10DS, G-C, +1 single nucleotide variant Pathogenic
2 GNAS GNAS, 1-BP DEL, 725C deletion Pathogenic
3 GNAS NM_000516.5(GNAS): c.565_568delGACT (p.Asp189Metfs) deletion Pathogenic rs587776829 GRCh37 Chromosome 20, 57484251: 57484254
4 GNAS NM_000516.5(GNAS): c.565_568delGACT (p.Asp189Metfs) deletion Pathogenic rs587776829 GRCh38 Chromosome 20, 58909196: 58909199
5 GNAS GNAS, 38-BP DEL, EX1/IVS1 BOUNDARY deletion Pathogenic
6 GNAS NM_001077488.3(GNAS): c.775_776delCGinsGC (p.Arg259Ala) indel Pathogenic rs137854536 GRCh37 Chromosome 20, 57484792: 57484793
7 GNAS NM_001077488.3(GNAS): c.775_776delCGinsGC (p.Arg259Ala) indel Pathogenic rs137854536 GRCh38 Chromosome 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_001077488.3(GNAS): c.347C> T (p.Pro116Leu) single nucleotide variant Pathogenic rs137854539 GRCh37 Chromosome 20, 57478758: 57478758
13 GNAS NM_001077488.3(GNAS): c.347C> T (p.Pro116Leu) single nucleotide variant Pathogenic rs137854539 GRCh38 Chromosome 20, 58903703: 58903703
14 GNAS NM_001077488.3(GNAS): c.1177G> A (p.Glu393Lys) single nucleotide variant Pathogenic rs397514456 GRCh37 Chromosome 20, 57485873: 57485873
15 GNAS NM_001077488.3(GNAS): c.1177G> A (p.Glu393Lys) single nucleotide variant Pathogenic rs397514456 GRCh38 Chromosome 20, 58910818: 58910818
16 GNAS NM_000516.5(GNAS): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs797045046 GRCh37 Chromosome 20, 57466815: 57466815
17 GNAS NM_000516.5(GNAS): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs797045046 GRCh38 Chromosome 20, 58891760: 58891760
18 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh37 Chromosome 20, 57429520: 57429520
19 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh38 Chromosome 20, 58854465: 58854465
20 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh37 Chromosome 20, 57429775: 57429775
21 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh38 Chromosome 20, 58854720: 58854720
22 GNAS NM_080425.3(GNAS): c.475G> A (p.Glu159Lys) single nucleotide variant Likely pathogenic rs1135401777 GRCh38 Chromosome 20, 58853740: 58853740
23 GNAS NM_080425.3(GNAS): c.475G> A (p.Glu159Lys) single nucleotide variant Likely pathogenic rs1135401777 GRCh37 Chromosome 20, 57428795: 57428795
24 GNAS NM_000516.5(GNAS): c.432+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 20, 58903792: 58903792
25 GNAS NM_000516.5(GNAS): c.432+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 20, 57478847: 57478847
26 GNAS NM_001077488.3(GNAS): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 57466783: 57466783
27 GNAS NM_001077488.3(GNAS): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 58891728: 58891728

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 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 GNA11 GNAS PDE4D PRKAR1A
2
Show member pathways
12.68 GNA11 GNAS PDE4D PRKAR1A
3
Show member pathways
12.56 GNA11 GNAS PRKAR1A
4
Show member pathways
12.55 GNA11 GNAS PRKAR1A
5
Show member pathways
12.47 GNA11 GNAS PRKAR1A
6
Show member pathways
12.47 GNA11 GNAS PRKAR1A
7
Show member pathways
12.34 GNA11 GNAS PRKAR1A
8
Show member pathways
12.24 GNA11 GNAS PRKAR1A
9
Show member pathways
12.21 GNAS PDE4D PRKAR1A
10
Show member pathways
12.05 GNA11 GNAS PRKAR1A
11
Show member pathways
11.95 GNA11 GNAS PDE4D PRKAR1A
12
Show member pathways
11.87 GNA11 GNAS PRKAR1A
13
Show member pathways
11.83 GNAS PDE4D PRKAR1A
14 11.74 GNAS PDE4D PTH
15
Show member pathways
11.64 GNA11 GNAS PRKAR1A
16 11.6 GNA11 GNAS
17 11.59 GNA11 GNAS
18 11.55 GNA11 GNAS
19
Show member pathways
11.46 GNAS PDE4D PRKAR1A
20 11.42 GNAS PDE4D
21 11.38 GNAS PDE4D PRKAR1A
22 11.36 GNA11 GNAS
23 11.28 GNA11 GNAS PDE4D PTH
24 11.27 GNA11 GNAS
25 11.24 GNA11 GNAS
26 10.84 GNAS PRKAR1A
27 10.52 GNA11 GNAS PRKAR1A PTH

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 GNAS STX16
2 heterotrimeric G-protein complex GO:0005834 8.62 GNA11 GNAS

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

# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway GO:0007186 9.67 GNA11 GNAS PDE4D PTH
2 multicellular organism growth GO:0035264 9.46 GNAS PDE4D
3 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.43 GNAS PTH
4 adenylate cyclase-modulating G-protein coupled receptor signaling pathway GO:0007188 9.4 GNA11 GNAS
5 cellular response to glucagon stimulus GO:0071377 9.32 GNAS PRKAR1A
6 renal water homeostasis GO:0003091 9.26 GNAS PRKAR1A
7 obsolete positive regulation of cAMP biosynthetic process GO:0030819 9.16 GNAS PTH
8 skeletal system development GO:0001501 9.13 GNA11 GNAS PTH
9 response to parathyroid hormone GO:0071107 8.62 GNAS PTH

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

# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor binding GO:0001664 9.32 GNA11 GNAS
2 cAMP binding GO:0030552 9.26 PDE4D PRKAR1A
3 G-protein beta/gamma-subunit complex binding GO:0031683 9.16 GNA11 GNAS
4 guanyl nucleotide binding GO:0019001 8.96 GNA11 GNAS
5 beta-2 adrenergic receptor binding GO:0031698 8.62 GNAS PDE4D

Sources for Pseudopseudohypoparathyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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