PPHP
MCID: PSD014
MIFTS: 55

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 58 12 54 60 30 13 6 45 15 41 74
Albright Hereditary Osteodystrophy Without Multiple Hormone Resistance 58 54
Pseudo-Pseudohypoparathyroidism 54 56
Pphp 58 54
Albright Hereditary Osteodystrophy-Pphp Syndrome 60
Normocalcemic Pseudohypoparathyroidism 12
Pseudopseudo-Hypoparathyroidism 54
Pseudohypoparathyroidism 74
Aho-Pphp Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
pseudopseudohypoparathyroidism
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
pseudopseudohypoparathyroidism:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:4183
OMIM 58 612463
MeSH 45 D011556
NCIt 51 C129722
SNOMED-CT 69 58833000 8084001
MESH via Orphanet 46 D011556
ICD10 via Orphanet 35 E20.1
UMLS via Orphanet 75 C0033835
Orphanet 60 ORPHA79445
MedGen 43 C0033835

Summaries for Pseudopseudohypoparathyroidism

NIH Rare Diseases : 54 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 albright's hereditary osteodystrophy 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 : 58 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 : 77 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 59)
# Related Disease Score Top Affiliating Genes
1 albright's hereditary osteodystrophy 31.9 GNAS HDAC4 STX16
2 brachydactyly 30.2 GNAS HDAC4 PTHLH
3 hypoparathyroidism 30.2 PTH PTHLH
4 pseudohypoparathyroidism 30.1 GNAS PTH PTHLH STX16
5 brachydactyly, type e2 29.5 GNA11 GNAS PTHLH
6 pseudohypoparathyroidism, type ia 11.4
7 acrodysostosis 11.1
8 hypopituitarism 10.2
9 pseudohypoparathyroidism, type ii 10.1
10 gonadal dysgenesis 10.1
11 juxtacortical osteosarcoma 10.1 GNAS PTHLH
12 turner syndrome 10.1
13 extraskeletal chondroma 10.1 PTH PTHLH
14 sclerosing hepatic carcinoma 10.1 PTH PTHLH
15 osteitis fibrosa 10.1 GNAS PTH
16 invasive malignant thymoma 10.1 PTH PTHLH
17 peripheral osteosarcoma 10.1 GNAS PTHLH
18 clear cell adenoma 10.1 PTH PTHLH
19 connective tissue benign neoplasm 10.1 GNAS PTH
20 oncogenic osteomalacia 10.1 PTH PTHLH
21 hypercalcemia, infantile, 1 10.1 PTH PTHLH
22 hypothyroidism, congenital, nongoitrous, 1 10.0 GNAS STX16
23 cloacogenic carcinoma 10.0 PTH PTHLH
24 metaphyseal chondrodysplasia, jansen type 10.0 PTH PTHLH
25 dementia 10.0
26 calcinosis 10.0
27 hereditary multiple exostoses 10.0
28 skin atrophy 10.0
29 empty sella syndrome 10.0
30 hereditary multiple osteochondromas 10.0
31 parathyroid gland disease 10.0 PTH PTHLH
32 cell type benign neoplasm 10.0 GNAS PTH
33 mineral metabolism disease 10.0 PTH PTHLH
34 basal cell nevus syndrome 10.0
35 diabetes insipidus, nephrogenic, autosomal 10.0
36 osseous heteroplasia, progressive 10.0
37 pheochromocytoma 10.0
38 chromosome 2q37 deletion syndrome 10.0
39 body mass index quantitative trait locus 1 10.0
40 atrioventricular block 10.0
41 fibrous dysplasia 10.0
42 polyneuropathy 10.0
43 diabetes insipidus 10.0
44 dwarfism 10.0
45 growth hormone deficiency 10.0
46 hemifacial spasm 10.0
47 parathyroid adenoma 9.9 PTH PTHLH
48 multiple endocrine neoplasia, type i 9.9 GNAS PTH
49 hypocalciuric hypercalcemia, familial, type i 9.9 GNA11 PTH
50 hypocalciuric hypercalcemia, familial, type ii 9.9 GNA11 PTH

Graphical network of the top 20 diseases related to Pseudopseudohypoparathyroidism:



Diseases related to Pseudopseudohypoparathyroidism

Symptoms & Phenotypes for Pseudopseudohypoparathyroidism

Human phenotypes related to Pseudopseudohypoparathyroidism:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 occasional (7.5%) HP:0001249
2 short neck 33 HP:0000470
3 obesity 33 HP:0001513
4 nystagmus 33 HP:0000639
5 cataract 33 HP:0000518
6 depressed nasal bridge 33 HP:0005280
7 short stature 33 HP:0004322
8 cognitive impairment 33 HP:0100543
9 osteoporosis 33 HP:0000939
10 full cheeks 33 HP:0000293
11 delayed eruption of teeth 33 HP:0000684
12 brachydactyly 33 HP:0001156
13 round face 33 HP:0000311
14 short metacarpal 33 HP:0010049
15 pseudohypoparathyroidism 33 HP:0000852
16 short metatarsal 33 HP:0010743
17 hypoplasia of dental enamel 33 HP:0006297

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Theophylline Approved Phase 4,Phase 2 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 Anti-Asthmatic Agents Phase 4,Phase 2
5 Neurotransmitter Agents Phase 4,Phase 2
6 Peripheral Nervous System Agents Phase 4,Phase 2
7 Respiratory System Agents Phase 4,Phase 2
8 Bronchodilator Agents Phase 4,Phase 2
9 Autonomic Agents Phase 4,Phase 2
10 Vasodilator Agents Phase 4,Phase 2
11 Purinergic P1 Receptor Antagonists Phase 4,Phase 2
12 Phosphodiesterase Inhibitors Phase 4,Phase 2
13 Anti-Infective Agents Phase 2
14 sodium thiosulfate Phase 2
15 Protective Agents Phase 2
16 Antioxidants Phase 2
17 Antidotes Phase 2
18 Antitubercular Agents Phase 2
19 Chelating Agents Phase 2
20 Anti-Bacterial Agents Phase 2
21
Parathyroid hormone Approved, Investigational 9002-64-6
22
Cinacalcet Approved 226256-56-0 156419
23
Denosumab Approved 615258-40-7
24
Lithium carbonate Approved 554-13-2
25
Calcium Approved, Nutraceutical 7440-70-2 271
26
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
27
Calcitriol Approved, Nutraceutical 32222-06-3 5280453 134070
28
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
29 Calcium, Dietary
30 Hormones ,Not Applicable
31 Calciferol
32 Vitamins
33 Arginine Vasopressin
34 Liver Extracts
35 Diphosphonates
36 Bone Density Conservation Agents
37 Ergocalciferols
38 Vitamin D2
39 Nutrients
40 Trace Elements
41 Hormones, Hormone Substitutes, and Hormone Antagonists
42 Micronutrients
43 Hormone Antagonists

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 as a Treatment for Children With Pseudohypoparathyroidism Type 1a (Albright Hereditary Osteodystrophy) Completed NCT02463409 Phase 2 Theophylline
3 Theophylline Treatment for Pseudohypoparathyroidism Recruiting NCT03029429 Phase 2 Theophylline;Placebos
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 Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism Completed NCT02411461
7 Study of the Regulation of Parathyroid Hormone Secretion in Pseudohypoparathyroidism Completed NCT00004661
8 Hypoparathyroidism in Denmark Completed NCT01498341
9 Physiologic Regulation of FGF-23 Completed NCT00356512
10 Serum Calcium to Phosphorous Ratio (Ca/P) as a Simple, Inexpensive Screening Tool in the Diagnosis of Primary Hyperparathyroidism Completed NCT03027349
11 Reliability of Serum Calcium to Phosphorus (Ca/P) Ratio as an Accurate and Inexpensive Tool to Define Disorders of Ca-P Metabolism Completed NCT03603444
12 Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments Recruiting NCT00209235 Not Applicable
13 Resistance to Vitamin D or Parathyroid Hormone Recruiting NCT00001242
14 Studies of Inherited Diseases of Metabolism Recruiting NCT00001345
15 Characterization of Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism Active, not recruiting NCT02551120
16 Glucose Homeostasis in Pseudohypoparathyroidism Not yet recruiting NCT03761290
17 Energy Expenditure and Body Composition in Pseudohypoparathyroidism 1a 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 30 GNAS

Anatomical Context for Pseudopseudohypoparathyroidism

MalaCards organs/tissues related to Pseudopseudohypoparathyroidism:

42
Bone, Skin, Eye, Spinal Cord

Publications for Pseudopseudohypoparathyroidism

Articles related to Pseudopseudohypoparathyroidism:

(show top 50) (show all 72)
# Title Authors Year
1
Presentation of pseudohypoparathyroidism and pseudopseudohypoparathyroidism with skin lesions: Case reports and review. ( 30809832 )
2019
2
Intracranial vascular calcification with extensive white matter changes in an autopsy case of pseudopseudohypoparathyroidism. ( 30430658 )
2019
3
Pseudopseudohypoparathyroidism: A Diagnostic Consideration in a Patient with Brachydactyly. ( 29429567 )
2018
4
Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism. ( 29947179 )
2018
5
Erratum to «Pseudopseudohypoparathyroidism vs. progressive osseous heteroplasia in absence of family history». ( 28073519 )
2017
6
Pseudopseudohypoparathyroidism. ( 25484027 )
2015
7
Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese. ( 24651309 )
2014
8
Sinus pauses and high-grade atrioventricular block in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism. ( 23814007 )
2013
9
Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism. ( 23645122 )
2013
10
Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. ( 24127307 )
2013
11
Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. ( 21521295 )
2011
12
Total knee arthroplasty in a patient with pseudopseudohypoparathyroidism. ( 21815586 )
2011
13
Pseudopseudohypoparathyroidism. ( 20109835 )
2009
14
Osteoma cutis as the presenting feature of albright hereditary osteodystrophy associated with pseudopseudohypoparathyroidism. ( 20523775 )
2009
15
Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha. ( 17803690 )
2008
16
Petrified ears associated with pseudopseudohypoparathyroidism. ( 18028504 )
2008
17
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. ( 18553568 )
2008
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
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
20
[Pseudopseudohypoparathyroidism and genomic imprinting]. ( 17660620 )
2007
21
GNAS locus and pseudohypoparathyroidism. ( 15711092 )
2005
22
A patient with acute-onset HAM/TSP after blood transfusion complicated with pseudopseudohypoparathyroidism. ( 12413020 )
2002
23
Spastic tetraparesis in a patient with pseudopseudohypoparathyroidism. ( 12532935 )
2002
24
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. ( 11784876 )
2002
25
GNAS1 mutations and progressive osseous heteroplasia. ( 12024004 )
2002
26
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. ( 11600516 )
2001
27
STK25 is a candidate gene for pseudopseudohypoparathyroidism. ( 11543625 )
2001
28
Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. ( 11095461 )
2000
29
Lunatomalacia in pseudopseudohypoparathyroidism: a case report. ( 11140416 )
2000
30
[A case of HTLV-1 associated myelopathy (HAM) with pseudopseudohypoparathyroidism]. ( 11086403 )
2000
31
Stimulatory guanine nucleotide binding protein subunit 1 mutation in two siblings with pseudohypoparathyroidism type 1a and mother with pseudopseudohypoparathyroidism. ( 10094437 )
1999
32
Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy. ( 10487696 )
1999
33
A mutation in the heterotrimeric stimulatory guanine nucleotide binding protein alpha-subunit with impaired receptor-mediated activation because of elevated GTPase activity. ( 10200251 )
1999
34
GNAS1 mutational analysis in pseudohypoparathyroidism. ( 9876352 )
1998
35
An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism. ( 9506752 )
1998
36
Type 2 diabetes in adults with pseudopseudohypoparathyroidism. Case report. ( 9727918 )
1998
37
A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation. ( 9727013 )
1998
38
Pseudopseudohypoparathyroidism, presenting with osteoma cutis. ( 9169361 )
1997
39
Military service and pseudopseudohypoparathyroidism: recognizing red flags for rare medical conditions. ( 9232985 )
1997
40
Radiological case of the month. Ectopic ossification and calcification in pseudohypoparathyroidism and pseudopseudohypoparathyroidism. ( 8646317 )
1996
41
Hemifacial spasm in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism and nephrogenic diabetes insipidus--case report. ( 7566382 )
1995
42
PPHP founder talks of medicine's future. Interview by Elaine S. Herrmann and Maria T. Montesano. ( 7792087 )
1995
43
Pseudopseudohypoparathyroidism associated with idiopathic growth hormone deficiency. Role of treatment with biosynthetic growth hormone. ( 8282968 )
1993
44
A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy. ( 1505964 )
1992
45
Pseudopseudohypoparathyroidism with recurrent polyneuropathy: an autopsy report with special reference to the peripheral nervous system. ( 1650818 )
1991
46
Pseudopseudohypoparathyroidism and spinal cord compression. ( 1744651 )
1991
47
Familial growth hormone releasing factor deficiency in pseudopseudohypoparathyroidism. ( 2031618 )
1991
48
Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. ( 2122458 )
1990
49
The pattern of shortened hand and foot bones in D- and E-brachydactyly and pseudohypoparathyroidism/pseudopseudohypoparathyroidism. ( 2834801 )
1988
50
Pseudopseudohypoparathyroidism with spinal cord compression. ( 3174285 )
1988

Variations for Pseudopseudohypoparathyroidism

ClinVar genetic disease variations for Pseudopseudohypoparathyroidism:

6 (show all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAS NM_000516.5(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854530 GRCh37 Chromosome 20, 57466782: 57466782
2 GNAS NM_000516.5(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854530 GRCh38 Chromosome 20, 58891727: 58891727
3 GNAS GNAS, IVS10DS, G-C, +1 single nucleotide variant Pathogenic
4 GNAS GNAS, 1-BP DEL, 725C deletion Pathogenic
5 GNAS NM_000516.5(GNAS): c.565_568delGACT (p.Asp189Metfs) deletion Pathogenic rs587776829 GRCh37 Chromosome 20, 57484251: 57484254
6 GNAS NM_000516.5(GNAS): c.565_568delGACT (p.Asp189Metfs) deletion Pathogenic rs587776829 GRCh38 Chromosome 20, 58909196: 58909199
7 GNAS GNAS, 38-BP DEL, EX1/IVS1 BOUNDARY deletion Pathogenic
8 GNAS NM_000516.5(GNAS): c.772C> T (p.Arg258Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137854535 GRCh37 Chromosome 20, 57484792: 57484792
9 GNAS NM_000516.5(GNAS): c.772C> T (p.Arg258Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137854535 GRCh38 Chromosome 20, 58909737: 58909737
10 GNAS NM_001077488.3(GNAS): c.775_776delCGinsGC (p.Arg259Ala) indel Pathogenic rs137854536 GRCh37 Chromosome 20, 57484792: 57484793
11 GNAS NM_001077488.3(GNAS): c.775_776delCGinsGC (p.Arg259Ala) indel Pathogenic rs137854536 GRCh38 Chromosome 20, 58909737: 58909738
12 GNAS GNAS, GLN170ALA undetermined variant Pathogenic
13 GNAS GNAS, 2-BP DEL, GA, EXON 8 deletion Pathogenic
14 GNAS GNAS, 2-BP DEL, CT, EXON 4 deletion Pathogenic
15 GNAS GNAS, 1-BP DEL, C, EXON 1 deletion Pathogenic
16 GNAS NM_001077488.3(GNAS): c.347C> T (p.Pro116Leu) single nucleotide variant Pathogenic rs137854539 GRCh37 Chromosome 20, 57478758: 57478758
17 GNAS NM_001077488.3(GNAS): c.347C> T (p.Pro116Leu) single nucleotide variant Pathogenic rs137854539 GRCh38 Chromosome 20, 58903703: 58903703
18 GNAS NM_001077488.3(GNAS): c.1177G> A (p.Glu393Lys) single nucleotide variant Pathogenic rs397514456 GRCh37 Chromosome 20, 57485873: 57485873
19 GNAS NM_001077488.3(GNAS): c.1177G> A (p.Glu393Lys) single nucleotide variant Pathogenic rs397514456 GRCh38 Chromosome 20, 58910818: 58910818
20 GNAS NM_000516.5(GNAS): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs797045046 GRCh37 Chromosome 20, 57466815: 57466815
21 GNAS NM_000516.5(GNAS): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs797045046 GRCh38 Chromosome 20, 58891760: 58891760
22 GNAS NM_001077488.3(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 GRCh37 Chromosome 20, 57466866: 57466866
23 GNAS NM_001077488.3(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 GRCh38 Chromosome 20, 58891811: 58891811
24 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh37 Chromosome 20, 57429520: 57429520
25 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh38 Chromosome 20, 58854465: 58854465
26 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh37 Chromosome 20, 57429775: 57429775
27 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh38 Chromosome 20, 58854720: 58854720
28 GNAS NM_080425.3(GNAS): c.475G> A (p.Glu159Lys) single nucleotide variant Likely pathogenic rs1135401777 GRCh38 Chromosome 20, 58853740: 58853740
29 GNAS NM_080425.3(GNAS): c.475G> A (p.Glu159Lys) single nucleotide variant Likely pathogenic rs1135401777 GRCh37 Chromosome 20, 57428795: 57428795
30 GNAS NM_000516.5(GNAS): c.432+1G> A single nucleotide variant Pathogenic rs1555889131 GRCh38 Chromosome 20, 58903792: 58903792
31 GNAS NM_000516.5(GNAS): c.432+1G> A single nucleotide variant Pathogenic rs1555889131 GRCh37 Chromosome 20, 57478847: 57478847
32 GNAS NM_001077488.3(GNAS): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs1555883949 GRCh37 Chromosome 20, 57466783: 57466783
33 GNAS NM_001077488.3(GNAS): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs1555883949 GRCh38 Chromosome 20, 58891728: 58891728
34 GNAS NM_001077490.2(GNAS): c.1235C> T (p.Pro412Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 57429742: 57429742
35 GNAS NM_001077490.2(GNAS): c.1235C> T (p.Pro412Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 58854687: 58854687
36 GNAS NM_080425.3(GNAS): c.2682C> G (p.Ser894Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 20, 58909718: 58909718
37 GNAS NM_080425.3(GNAS): c.2682C> G (p.Ser894Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 20, 57484773: 57484773

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

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 GNA11 GNAS PTH PTHLH
2 response to drug GO:0042493 9.58 GNAS HDAC4 PTH
3 female pregnancy GO:0007565 9.49 GNAS PTHLH
4 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.48 GNA11 GNAS
5 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.43 GNAS PTH PTHLH
6 osteoblast development GO:0002076 9.37 HDAC4 PTHLH
7 negative regulation of chondrocyte differentiation GO:0032331 9.32 PTH PTHLH
8 response to parathyroid hormone GO:0071107 9.16 GNAS PTH
9 bone mineralization GO:0030282 9.13 PTHLH
10 skeletal system development GO:0001501 9.02 GNA11 GNAS HDAC4 PTH PTHLH
11 cAMP metabolic process GO:0046058 8.96 PTH PTHLH

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 PTH PTHLH
2 G protein-coupled receptor binding GO:0001664 9.26 GNA11 GNAS
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 peptide hormone receptor binding GO:0051428 8.62 PTH PTHLH

Sources for Pseudopseudohypoparathyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
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47 MGI
50 NCI
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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