PPHP
MCID: PSD014
MIFTS: 51

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 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
NCIt 50 C129722
SNOMED-CT 68 58833000 8084001
Orphanet 59 ORPHA79445
ICD10 via Orphanet 34 E20.1
MESH via Orphanet 45 D011556
UMLS via Orphanet 74 C0033835
MedGen 42 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 CCR5 Pathway in Macrophages. The drugs Theophylline and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and eye, and related phenotypes are short neck and obesity

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 top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 acrodysostosis 31.7 GNAS PRKAR1A
2 pseudohypoparathyroidism 30.6 GNAS PTH STX16
3 brachydactyly 30.0 GNAS HDAC4 PRKAR1A
4 brachydactyly, type e2 29.9 GNA11 GNAS
5 albright's hereditary osteodystrophy 29.6 GNAS HDAC4 PRKAR1A STX16
6 pseudohypoparathyroidism, type ia 11.4
7 hypopituitarism 10.1
8 pseudohypoparathyroidism, type ii 10.1
9 hypothyroidism, congenital, nongoitrous, 1 10.1 GNAS STX16
10 turner syndrome 10.1
11 gonadal dysgenesis 10.1
12 hormone producing pituitary cancer 10.1 GNAS PRKAR1A
13 osteitis fibrosa 10.0 GNAS PTH
14 growth hormone secreting pituitary adenoma 10.0 GNAS PRKAR1A
15 connective tissue benign neoplasm 10.0 GNAS PTH
16 hypercalcemia, infantile, 1 10.0 PRKAR1A PTH
17 carney complex variant 10.0 GNAS PRKAR1A
18 primary pigmented nodular adrenocortical disease 10.0 GNAS PRKAR1A
19 hypocalciuric hypercalcemia, familial, type i 10.0 GNA11 PTH
20 hypocalciuric hypercalcemia, familial, type ii 10.0 GNA11 PTH
21 pituitary adenoma, prolactin-secreting 10.0 GNAS PRKAR1A
22 hypocalciuric hypercalcemia, familial, type iii 10.0 GNA11 PTH
23 hypoparathyroidism 10.0
24 dementia 10.0
25 calcinosis 10.0
26 hereditary multiple exostoses 10.0
27 skin atrophy 10.0
28 empty sella syndrome 10.0
29 cell type benign neoplasm 10.0 GNAS PTH
30 familial hypocalciuric hypercalcemia 9.9 GNA11 PTH
31 basal cell nevus syndrome 9.9
32 diabetes insipidus, nephrogenic, autosomal 9.9
33 osseous heteroplasia, progressive 9.9
34 pheochromocytoma 9.9
35 chromosome 2q37 deletion syndrome 9.9
36 body mass index quantitative trait locus 1 9.9
37 atrioventricular block 9.9
38 fibrous dysplasia 9.9
39 polyneuropathy 9.9
40 diabetes insipidus 9.9
41 dwarfism 9.9
42 growth hormone deficiency 9.9
43 hemifacial spasm 9.9
44 phosphorus metabolism disease 9.9 GNAS PTH STX16
45 metal metabolism disorder 9.9 GNAS PTH STX16
46 pseudohypoparathyroidism, type ib 9.9 GNAS PTH STX16
47 hyperphosphatemia 9.9 GNAS PTH STX16
48 primary hyperparathyroidism 9.9 PRKAR1A PTH
49 multiple endocrine neoplasia, type i 9.9 GNAS PRKAR1A PTH
50 hyperparathyroidism 9.9 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 short neck 32 HP:0000470
2 obesity 32 HP:0001513
3 nystagmus 32 HP:0000639
4 intellectual disability 32 occasional (7.5%) HP:0001249
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

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 PRKAR1A STX16
2 cardiovascular system MP:0005385 9.72 GNA11 GNAS PRKAR1A PTH STX16
3 craniofacial MP:0005382 9.65 GNA11 GNAS HDAC4 PRKAR1A PTH
4 growth/size/body region MP:0005378 9.63 GNA11 GNAS HDAC4 PRKAR1A PTH STX16
5 muscle MP:0005369 9.26 GNA11 GNAS HDAC4 PRKAR1A
6 skeleton MP:0005390 9.1 GNA11 GNAS HDAC4 PRKAR1A PTH STX16

Drugs & Therapeutics for Pseudopseudohypoparathyroidism

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

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Theophylline Approved Phase 4,Phase 2 58-55-9 2153
2
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
3 tannic acid Approved Phase 4
4 Neurotransmitter Agents Phase 4,Phase 2
5 Anti-Asthmatic Agents Phase 4,Phase 2
6 Vasodilator Agents Phase 4,Phase 2
7 Purinergic P1 Receptor Antagonists Phase 4,Phase 2
8 Phosphodiesterase Inhibitors Phase 4,Phase 2
9 Respiratory System Agents Phase 4,Phase 2
10 Peripheral Nervous System Agents Phase 4,Phase 2
11 Bronchodilator Agents Phase 4,Phase 2
12 Autonomic Agents Phase 4,Phase 2
13 Antidotes Phase 2
14 Antitubercular Agents Phase 2
15 Antioxidants Phase 2
16 Protective Agents Phase 2
17 Anti-Infective Agents Phase 2
18 Chelating Agents Phase 2
19 Anti-Bacterial Agents Phase 2
20 sodium thiosulfate Phase 2
21
Lithium carbonate Approved 554-13-2
22
Denosumab Approved 615258-40-7
23
Calcitriol Approved, Nutraceutical 32222-06-3 5280453 134070
24
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
25
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
26 Hormones ,Not Applicable
27 Calciferol
28 Trace Elements
29 Ergocalciferols
30 Calcium, Dietary
31 Hormones, Hormone Substitutes, and Hormone Antagonists
32 Micronutrients
33 Hormone Antagonists
34 Bone Density Conservation Agents
35 Vitamin D2
36 Vitamins
37 Liver Extracts
38 Arginine Vasopressin
39 Cinacalcet Hydrochloride
40 Diphosphonates

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Effect of Theophylline in Pseudohypoparathyroidism Not yet recruiting NCT03718403 Phase 4 Theophylline
2 Theophylline Treatment for Pseudohypoparathyroidism Recruiting NCT03029429 Phase 2 Theophylline;Placebos
3 Theophylline as a Treatment for Children With Pseudohypoparathyroidism Type 1a (Albright Hereditary Osteodystrophy) Completed NCT02463409 Phase 2 Theophylline
4 Intralesional Sodium Thiosulfate for Ectopic Calcifications or Ossifications. A Pilot Study Not yet recruiting NCT03582800 Phase 2 STS
5 Evaluation of rhGH Replacement Therapy in Patients With Pseudohypoparathyroidism Type Ia (PHP Ia) Unknown status NCT00497484 Not Applicable recombinant human somatotropin
6 Glucose Homeostasis in Pseudohypoparathyroidism Not yet recruiting NCT03761290
7 Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism Completed NCT02411461
8 Energy Expenditure and Body Composition in Pseudohypoparathyroidism 1a Terminated NCT01398774
9 Characterization of Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism Active, not recruiting NCT02551120
10 Study of the Regulation of Parathyroid Hormone Secretion in Pseudohypoparathyroidism Completed NCT00004661
11 Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments Recruiting NCT00209235 Not Applicable
12 Hypoparathyroidism in Denmark Completed NCT01498341
13 Resistance to Vitamin D or Parathyroid Hormone Recruiting NCT00001242
14 Studies of Inherited Diseases of Metabolism Recruiting NCT00001345
15 Physiologic Regulation of FGF-23 Completed NCT00356512
16 Serum Calcium to Phosphorous Ratio (Ca/P) as a Simple, Inexpensive Screening Tool in the Diagnosis of Primary Hyperparathyroidism Completed NCT03027349
17 Reliability of Serum Calcium to Phosphorus (Ca/P) Ratio as an Accurate and Inexpensive Tool to Define Disorders of Ca-P Metabolism Completed NCT03603444

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, Spinal Cord, Pituitary

Publications for Pseudopseudohypoparathyroidism

Articles related to Pseudopseudohypoparathyroidism:

(show top 50) (show all 56)
# 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
Intracranial vascular calcification with extensive white matter changes in an autopsy case of pseudopseudohypoparathyroidism. ( 30430658 )
2018
4
Erratum to «Pseudopseudohypoparathyroidism vs. progressive osseous heteroplasia in absence of family history». ( 28073519 )
2017
5
Pseudopseudohypoparathyroidism. ( 25484027 )
2015
6
Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese. ( 24651309 )
2014
7
Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism. ( 23645122 )
2013
8
Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. ( 24127307 )
2013
9
Sinus pauses and high-grade atrioventricular block in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism. ( 23814007 )
2013
10
Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. ( 21521295 )
2011
11
Total knee arthroplasty in a patient with pseudopseudohypoparathyroidism. ( 21815586 )
2011
12
Osteoma cutis as the presenting feature of albright hereditary osteodystrophy associated with pseudopseudohypoparathyroidism. ( 20523775 )
2009
13
Pseudopseudohypoparathyroidism. ( 20109835 )
2009
14
Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha. ( 17803690 )
2008
15
Petrified ears associated with pseudopseudohypoparathyroidism. ( 18028504 )
2008
16
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
17
[Pseudopseudohypoparathyroidism and genomic imprinting]. ( 17660620 )
2007
18
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
19
Spastic tetraparesis in a patient with pseudopseudohypoparathyroidism. ( 12532935 )
2002
20
A patient with acute-onset HAM/TSP after blood transfusion complicated with pseudopseudohypoparathyroidism. ( 12413020 )
2002
21
STK25 is a candidate gene for pseudopseudohypoparathyroidism. ( 11543625 )
2001
22
[A case of HTLV-1 associated myelopathy (HAM) with pseudopseudohypoparathyroidism]. ( 11086403 )
2000
23
Lunatomalacia in pseudopseudohypoparathyroidism: a case report. ( 11140416 )
2000
24
Stimulatory guanine nucleotide binding protein subunit 1 mutation in two siblings with pseudohypoparathyroidism type 1a and mother with pseudopseudohypoparathyroidism. ( 10094437 )
1999
25
Type 2 diabetes in adults with pseudopseudohypoparathyroidism. Case report. ( 9727918 )
1998
26
An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism. ( 9506752 )
1998
27
Pseudopseudohypoparathyroidism, presenting with osteoma cutis. ( 9169361 )
1997
28
Military service and pseudopseudohypoparathyroidism: recognizing red flags for rare medical conditions. ( 9232985 )
1997
29
Radiological case of the month. Ectopic ossification and calcification in pseudohypoparathyroidism and pseudopseudohypoparathyroidism. ( 8646317 )
1996
30
Hemifacial spasm in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism and nephrogenic diabetes insipidus--case report. ( 7566382 )
1995
31
Pseudopseudohypoparathyroidism associated with idiopathic growth hormone deficiency. Role of treatment with biosynthetic growth hormone. ( 8282968 )
1993
32
Pseudopseudohypoparathyroidism and spinal cord compression. ( 1744651 )
1991
33
Pseudopseudohypoparathyroidism with recurrent polyneuropathy: an autopsy report with special reference to the peripheral nervous system. ( 1650818 )
1991
34
Familial growth hormone releasing factor deficiency in pseudopseudohypoparathyroidism. ( 2031618 )
1991
35
Pseudopseudohypoparathyroidism with spinal cord compression. ( 3174285 )
1988
36
The pattern of shortened hand and foot bones in D- and E-brachydactyly and pseudohypoparathyroidism/pseudopseudohypoparathyroidism. ( 2834801 )
1988
37
Case study of a family of pseudohypoparathyroidism and pseudopseudohypoparathyroidism. ( 3793685 )
1986
38
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
39
Genetic counseling in pseudopseudohypoparathyroidism. ( 4080740 )
1985
40
Pseudopseudohypoparathyroidism and pheochromocytoma. Association or coincidence? ( 6870447 )
1983
41
Familial brachymetacarpalia--pseudopseudohypoparathyroidism? ( 6961319 )
1982
42
Turner's syndrome and pseudopseudohypoparathyroidism. ( 7062476 )
1982
43
Normocalcemic pseudohypoparathyroidism (Type II). ( 6281182 )
1981
44
Deficient prolactin response to parathyroid hormone in hypocalcemic and normocalcemic pseudohypoparathyroidism. ( 6262363 )
1981
45
Pseudopseudohypoparathyroidism with lymphoedema and abnormal dermatoglyphics. ( 7277480 )
1981
46
Normocalcemic pseudohypoparathyroidism. Association with normal vitamin D3 metabolism. ( 219689 )
1979
47
Pseudopseudohypoparathyroidism with fibrous dysplasia. ( 1119829 )
1975
48
Pseudopseudohypoparathyroidism: a case report. ( 1196179 )
1975
49
Pseudohypoparathyroidism (infant) and pseudopseudohypoparathyroidism (mother). ( 5442444 )
1970
50
Concurrence of features of pseudohypoparathyroidism, pseudopseudohypoparathyroidism and basal-cell nevus syndrome. ( 5480625 )
1970

Variations for Pseudopseudohypoparathyroidism

ClinVar genetic disease variations for Pseudopseudohypoparathyroidism:

6 (show all 31)
# 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_000516.5(GNAS): c.772C> T (p.Arg258Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137854535 GRCh37 Chromosome 20, 57484792: 57484792
7 GNAS NM_000516.5(GNAS): c.772C> T (p.Arg258Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137854535 GRCh38 Chromosome 20, 58909737: 58909737
8 GNAS NM_001077488.3(GNAS): c.775_776delCGinsGC (p.Arg259Ala) indel Pathogenic rs137854536 GRCh37 Chromosome 20, 57484792: 57484793
9 GNAS NM_001077488.3(GNAS): c.775_776delCGinsGC (p.Arg259Ala) indel Pathogenic rs137854536 GRCh38 Chromosome 20, 58909737: 58909738
10 GNAS GNAS, GLN170ALA undetermined variant Pathogenic
11 GNAS GNAS, 2-BP DEL, GA, EXON 8 deletion Pathogenic
12 GNAS GNAS, 2-BP DEL, CT, EXON 4 deletion Pathogenic
13 GNAS GNAS, 1-BP DEL, C, EXON 1 deletion Pathogenic
14 GNAS NM_001077488.3(GNAS): c.347C> T (p.Pro116Leu) single nucleotide variant Pathogenic rs137854539 GRCh37 Chromosome 20, 57478758: 57478758
15 GNAS NM_001077488.3(GNAS): c.347C> T (p.Pro116Leu) single nucleotide variant Pathogenic rs137854539 GRCh38 Chromosome 20, 58903703: 58903703
16 GNAS NM_001077488.3(GNAS): c.1177G> A (p.Glu393Lys) single nucleotide variant Pathogenic rs397514456 GRCh37 Chromosome 20, 57485873: 57485873
17 GNAS NM_001077488.3(GNAS): c.1177G> A (p.Glu393Lys) single nucleotide variant Pathogenic rs397514456 GRCh38 Chromosome 20, 58910818: 58910818
18 GNAS NM_000516.5(GNAS): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs797045046 GRCh37 Chromosome 20, 57466815: 57466815
19 GNAS NM_000516.5(GNAS): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs797045046 GRCh38 Chromosome 20, 58891760: 58891760
20 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh37 Chromosome 20, 57429520: 57429520
21 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh38 Chromosome 20, 58854465: 58854465
22 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh37 Chromosome 20, 57429775: 57429775
23 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh38 Chromosome 20, 58854720: 58854720
24 GNAS NM_080425.3(GNAS): c.475G> A (p.Glu159Lys) single nucleotide variant Likely pathogenic rs1135401777 GRCh38 Chromosome 20, 58853740: 58853740
25 GNAS NM_080425.3(GNAS): c.475G> A (p.Glu159Lys) single nucleotide variant Likely pathogenic rs1135401777 GRCh37 Chromosome 20, 57428795: 57428795
26 GNAS NM_000516.5(GNAS): c.432+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 20, 58903792: 58903792
27 GNAS NM_000516.5(GNAS): c.432+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 20, 57478847: 57478847
28 GNAS NM_001077488.3(GNAS): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 58891728: 58891728
29 GNAS NM_001077488.3(GNAS): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 57466783: 57466783
30 GNAS NM_001077490.2(GNAS): c.1235C> T (p.Pro412Leu) single nucleotide variant Uncertain significance rs532475771 GRCh37 Chromosome 20, 57429742: 57429742
31 GNAS NM_001077490.2(GNAS): c.1235C> T (p.Pro412Leu) single nucleotide variant Uncertain significance rs532475771 GRCh38 Chromosome 20, 58854687: 58854687

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 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 GNA11 GNAS HDAC4 PRKAR1A
2
Show member pathways
12.56 GNA11 GNAS PRKAR1A
3
Show member pathways
12.52 GNA11 GNAS PRKAR1A
4
Show member pathways
12.44 GNA11 GNAS PRKAR1A
5
Show member pathways
12.3 GNA11 GNAS PRKAR1A
6
Show member pathways
12.19 GNA11 GNAS PRKAR1A
7
Show member pathways
12.14 GNA11 GNAS PRKAR1A
8
Show member pathways
11.91 GNA11 GNAS PRKAR1A
9
Show member pathways
11.89 GNA11 GNAS PRKAR1A
10
Show member pathways
11.67 GNA11 GNAS PRKAR1A
11 11.6 GNA11 GNAS
12 11.57 GNA11 GNAS
13
Show member pathways
11.55 GNAS PRKAR1A
14 11.53 GNA11 GNAS
15 11.52 GNAS PRKAR1A
16
Show member pathways
11.43 GNA11 GNAS PRKAR1A
17 11.37 HDAC4 PTH
18 11.33 GNA11 GNAS
19 11.32 GNA11 GNAS PRKAR1A
20 11.23 GNA11 GNAS
21 11.19 GNA11 GNAS
22 11.16 GNA11 GNAS PTH
23 10.99 GNA11 GNAS PRKAR1A
24 10.68 GNAS PRKAR1A
25 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 9.16 GNAS STX16
2 neuromuscular junction GO:0031594 8.96 HDAC4 PRKAR1A
3 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 response to drug GO:0042493 9.5 GNAS HDAC4 PTH
2 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.4 GNAS PTH
3 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.37 GNA11 GNAS
4 renal water homeostasis GO:0003091 9.26 GNAS PRKAR1A
5 cellular response to glucagon stimulus GO:0071377 9.16 GNAS PRKAR1A
6 response to parathyroid hormone GO:0071107 8.96 GNAS PTH
7 skeletal system development GO:0001501 8.92 GNA11 GNAS HDAC4 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 9.16 GNA11 GNAS
2 G-protein beta/gamma-subunit complex binding GO:0031683 8.96 GNA11 GNAS
3 guanyl nucleotide binding GO:0019001 8.62 GNA11 GNAS

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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