PHP1A
MCID: PSD108
MIFTS: 61

Pseudohypoparathyroidism, Type Ia (PHP1A)

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

Aliases & Classifications for Pseudohypoparathyroidism, Type Ia

MalaCards integrated aliases for Pseudohypoparathyroidism, Type Ia:

Name: Pseudohypoparathyroidism, Type Ia 57 40 72
Albright's Hereditary Osteodystrophy 12 75 29 44 15 72
Albright Hereditary Osteodystrophy with Multiple Hormone Resistance 57 53 74
Pseudohypoparathyroidism Type 1a 12 53 59
Php1a 57 53 74
Albright Hereditary Osteodystrophy 12 74
Pseudohypoparathyroidism Ia 57 13
Albright Hereditary Osteodystrophy-Php Syndrome Ia 59
Pseudohypoparathyroidism 1a 74
Pseudohypoparathyroidism 72
Aho-Php Syndrome Ia 59
Php Ia 57
Aho 74

Characteristics:

Orphanet epidemiological data:

59
pseudohypoparathyroidism type 1a
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
caused by inheritance of the mutation on the maternal allele (imprinting)
see also pseudopseudohypoparathyroidism ()
see also pseudohypoparathyroidism type ib () and ic ()


HPO:

32
pseudohypoparathyroidism, type ia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080053
OMIM 57 103580
ICD10 via Orphanet 34 E20.1
UMLS via Orphanet 73 C3494506
Orphanet 59 ORPHA79443
UMLS 72 C0033806 C2931404 C3494506

Summaries for Pseudohypoparathyroidism, Type Ia

OMIM : 57 Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ resistance to parathyroid hormone (PTH; 168450). In addition to PTH resistance, PHP Ia is characterized by resistance to other hormones, including thyroid-stimulating hormone (TSH; see TSHB, 188540) and gonadotropins. PHP Ia is associated with a 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 (Mantovani and Spada, 2006). In contrast, pseudopseudohypoparathyroidism (PPHP; 612463) is characterized by the physical findings of AHO but without hormone resistance (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006). PHP1A occurs only after maternal inheritance of the molecular defect, whereas PPHP occurs only after paternal inheritance of the molecular defect (Davies and Hughes, 1993; Wilson et al., 1994). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele. See INHERITANCE and PATHOGENESIS sections. (103580)

MalaCards based summary : Pseudohypoparathyroidism, Type Ia, also known as albright's hereditary osteodystrophy, is related to pseudohypoparathyroidism, type ib and pseudopseudohypoparathyroidism, and has symptoms including seizures An important gene associated with Pseudohypoparathyroidism, Type Ia is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Peptide ligand-binding receptors and TGF-Beta Pathway. The drugs Theophylline and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, thyroid and skin, and related phenotypes are pseudohypoparathyroidism and short stature

Disease Ontology : 12 An pseudohypoparathyroidism that has material basis in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face.

NIH Rare Diseases : 53 Pseudohypoparathyroidism type 1A is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism is when your body is unable to respond to parathyroid hormone, which is a hormone that controls the levels of calcium, phosphorous, and vitamin D in the blood. The symptoms are very similar to hypoparathyroidism (when parathyroid hormone levels are too low). The main symptoms are low calcium levels and high phosphate levels in the blood. This results in cataracts, dental problems, seizures, numbness, and tetany (muscle twitches and hand and foot spasms). Symptoms are generally first seen in childhood. People with this disorder are also resistant to other hormones, such as thyroid-stimulating hormone and gonadotropins. Type 1A is also associated with a group of symptoms referred to as Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. Pseudohypoparathyroidism type 1A is caused by a spelling mistake (mutation) in the GNAS gene and is inherited in an autosomal dominant manner.

UniProtKB/Swiss-Prot : 74 Albright hereditary osteodystrophy: A disorder characterized by short stature, obesity, round facies, brachydactyly and subcutaneous calcification. It is often associated with pseudohypoparathyoidism, hypocalcemia and elevated PTH levels. Pseudohypoparathyroidism 1A: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. It is commonly associated with Albright hereditary osteodystrophy whose features are short stature, obesity, round facies, short metacarpals and ectopic calcification.

Wikipedia : 75 Albright's hereditary osteodystrophy is a form of osteodystrophy, and is classified as the phenotype of... more...

Related Diseases for Pseudohypoparathyroidism, Type Ia

Diseases in the Pseudohypoparathyroidism family:

Pseudohypoparathyroidism, Type Ia Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Type Ib Pseudohypoparathyroidism, Type Ic

Diseases related to Pseudohypoparathyroidism, Type Ia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 195)
# Related Disease Score Top Affiliating Genes
1 pseudohypoparathyroidism, type ib 31.5 STX16 PTH GNAS
2 pseudopseudohypoparathyroidism 31.3 STX16 PTH GNAS GNA11
3 growth hormone deficiency 30.9 IGF1 GH1
4 precocious puberty 30.7 GNAS GH1
5 pseudohypoparathyroidism 30.6 STX16 PTH GNAS
6 hypothyroidism, congenital, nongoitrous, 1 30.6 STX16 GNAS
7 pituitary tumors 30.0 PRL IGF1 GNAS GH1
8 hyperphosphatemia 29.9 STX16 PTH GNAS
9 adenoma 29.8 PRL IGF1 GNAS GH1
10 fibrous dysplasia 29.8 PRL IGF1 GNAS GH1
11 hypothyroidism 29.7 TRH PRL IGF1 GNAS GH1
12 mccune-albright syndrome 29.6 PRL IGF1 GNAS GH1
13 hypocalcemia, autosomal dominant 1 29.6 PTH GNAS GNA11
14 hyperprolactinemia 29.6 TRH PRL IGF1 GH1
15 pituitary adenoma, prolactin-secreting 29.1 TRH PRL IGF1 GNAS GH1
16 acromegaly 29.0 TRH PRL IGF1 GNAS GH1
17 pseudohypoparathyroidism without albright hereditary osteodystrophy 12.6
18 chromosome 2q37 deletion syndrome 12.6
19 2q37 deletion syndrome 11.7
20 pseudohypoparathyroidism, type ii 11.2
21 brachydactyly 10.6
22 pseudohypoparathyroidism with albright hereditary osteodystrophy 10.6
23 disorders of gnas inactivation 10.5
24 hormone producing pituitary cancer 10.5 IGF1 GNAS
25 central precocious puberty 10.4 IGF1 GH1
26 marasmus 10.4 IGF1 GH1
27 pituitary infarct 10.4 PRL IGF1
28 galactorrhea 10.4 PRL IGF1
29 fibrous dysplasia/mccune-albright syndrome 10.3 PRL GH1
30 congenital hypothyroidism 10.3
31 isolated growth hormone deficiency, type ib 10.3 IGF1 GH1
32 growth hormone secreting pituitary adenoma 10.3 PRL GNAS
33 isolated growth hormone deficiency 10.3 IGF1 GH1
34 sheehan syndrome 10.3 PRL IGF1
35 primary hyperparathyroidism 10.3
36 hyperparathyroidism 10.3
37 gonadal dysgenesis 10.3
38 acrodysostosis 10.3
39 hypogonadism 10.3
40 craniosynostosis 10.3
41 turner syndrome 10.3
42 spinal stenosis 10.3
43 hypogonadotropism 10.3
44 diabetes insipidus 10.3
45 intracranial hypertension 10.3
46 cone-rod dystrophy 12 10.3 IGF1 GH1
47 hypothalamic disease 10.3 PRL GH1
48 mammographic density 10.3 PRL IGF1
49 gigantism 10.3 PRL GH1
50 hypoparathyroidism 10.3

Graphical network of the top 20 diseases related to Pseudohypoparathyroidism, Type Ia:



Diseases related to Pseudohypoparathyroidism, Type Ia

Symptoms & Phenotypes for Pseudohypoparathyroidism, Type Ia

Human phenotypes related to Pseudohypoparathyroidism, Type Ia:

59 32 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pseudohypoparathyroidism 59 32 obligate (100%) Obligate (100%) HP:0000852
2 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
3 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
4 elevated circulating parathyroid hormone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003165
5 hyperphosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002905
6 low urinary cyclic amp response to pth administration 59 32 hallmark (90%) Very frequent (99-80%) HP:0003456
7 pituitary resistance to thyroid hormone 59 32 hallmark (90%) Very frequent (99-80%) HP:0008227
8 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
9 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
10 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
11 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
12 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
13 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
14 thickened calvaria 59 32 frequent (33%) Frequent (79-30%) HP:0002684
15 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
16 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
17 short 4th metacarpal 59 32 frequent (33%) Frequent (79-30%) HP:0010044
18 short 5th metacarpal 59 32 frequent (33%) Frequent (79-30%) HP:0010047
19 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
20 increased bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0011001
21 polyphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002591
22 growth hormone deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000824
23 short fifth metatarsal 59 32 frequent (33%) Frequent (79-30%) HP:0004704
24 hypoplasia of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0006297
25 ectopic ossification 59 32 frequent (33%) Frequent (79-30%) HP:0011986
26 basal ganglia calcification 59 32 frequent (33%) Frequent (79-30%) HP:0002135
27 choroid plexus calcification 59 32 frequent (33%) Frequent (79-30%) HP:0006960
28 constrictive median neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0012185
29 broad 1st metacarpal 59 32 frequent (33%) Frequent (79-30%) HP:0010027
30 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
31 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
32 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
33 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
34 irritability 59 32 occasional (7.5%) Occasional (29-5%) HP:0000737
35 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
36 reduced bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0004349
37 chest pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0100749
38 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
39 prolonged qt interval 59 32 occasional (7.5%) Occasional (29-5%) HP:0001657
40 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
41 hypergonadotropic hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000815
42 confusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0001289
43 conjunctivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000509
44 abnormal platelet function 59 32 occasional (7.5%) Occasional (29-5%) HP:0011869
45 hyporeflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001265
46 choreoathetosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001266
47 myoclonic spasms 59 32 occasional (7.5%) Occasional (29-5%) HP:0003739
48 oligomenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000876
49 spinal cord compression 59 32 occasional (7.5%) Occasional (29-5%) HP:0002176
50 band keratopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000585

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Head And Neck Eyes:
nystagmus
cataract

Neurologic Central Nervous System:
seizures
hypocalcemic tetany
mental retardation
cognitive deficits
basal ganglion calcification
more
Skeletal:
osteoporosis

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

Laboratory Abnormalities:
hypocalcemia
hyperphosphatemia
low urinary cyclic amp response to pth administration
elevated serum parathyroid hormone (pth) level
reduced erythrocyte gs activity

Head And Neck Nose:
low nasal bridge

Skin Nails Hair Skin:
subcutaneous ossifications

Growth Weight:
obesity

Endocrine Features:
hypothyroidism
hypogonadism
pseudohypoparathyroidism

Growth Height:
short stature

Head And Neck Face:
full cheeks
round face

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

Neurologic Peripheral Nervous System:
hypocalcemic tetany

Head And Neck Teeth:
delayed tooth eruption
enamel hypoplasia

Clinical features from OMIM:

103580

UMLS symptoms related to Pseudohypoparathyroidism, Type Ia:


seizures

GenomeRNAi Phenotypes related to Pseudohypoparathyroidism, Type Ia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00179-A-1 8.8 IGF1 STX16
2 Decreased viability with paclitaxel GR00179-A-2 8.8 IGF1

MGI Mouse Phenotypes related to Pseudohypoparathyroidism, Type Ia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.63 GNA11 GNAS IGF1 PRL PTH TRH
2 homeostasis/metabolism MP:0005376 9.5 GNA11 GNAS IGF1 PRL PTH STX16
3 limbs/digits/tail MP:0005371 8.92 GNA11 GNAS IGF1 PTH

Drugs & Therapeutics for Pseudohypoparathyroidism, Type Ia

Drugs for Pseudohypoparathyroidism, Type Ia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
# 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 Antidotes Phase 2
14 Antioxidants Phase 2
15 sodium thiosulfate Phase 2
16 Anti-Infective Agents Phase 2
17 Anti-Bacterial Agents Phase 2
18 Protective Agents Phase 2
19 Chelating Agents Phase 2
20 Antitubercular Agents Phase 2
21
Parathyroid hormone Approved, Investigational 9002-64-6
22
Calcium Approved, Nutraceutical 7440-70-2 271
23
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
24
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
25
Calcitriol Approved, Nutraceutical 32222-06-3 5280453 134070
26 Mitogens
27 Hormones
28 Hormone Antagonists
29 Hormones, Hormone Substitutes, and Hormone Antagonists
30 Calcium, Dietary
31 Micronutrients
32 Trace Elements
33 Vitamin D2
34 Vitamins
35 Nutrients
36 Ergocalciferols
37 Calciferol
38 Bone Density Conservation Agents

Interventional clinical trials:

(show all 16)
# 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 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 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, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism in Denmark - Epidemiology, Causes, Symptoms and Prognoses Completed NCT01498341
9 Studies in Phosphorus Metabolism Completed NCT00066183
10 Physiologic Regulation of FGF-23 Completed NCT00356512
11 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
12 Glucose Homeostasis and Beta Cell Function in Pseudohypoparathyroidism Recruiting NCT03761290
13 Studies of States With Resistance to Vitamin D and Parathyroid Hormone Recruiting NCT00001242
14 Family Studies in Metabolic Diseases and Mineral Metabolism Recruiting NCT00001345
15 Characterization of Patients With Idiopathic Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism Active, not recruiting NCT02551120
16 Altered Resting Energy Expenditure as a Cause of Obesity in Pseudohypoparathyroidism 1a: A Pilot Study Terminated NCT01398774

Search NIH Clinical Center for Pseudohypoparathyroidism, Type Ia

Cochrane evidence based reviews: albright's hereditary osteodystrophy

Genetic Tests for Pseudohypoparathyroidism, Type Ia

Genetic tests related to Pseudohypoparathyroidism, Type Ia:

# Genetic test Affiliating Genes
1 Albright's Hereditary Osteodystrophy 29

Anatomical Context for Pseudohypoparathyroidism, Type Ia

MalaCards organs/tissues related to Pseudohypoparathyroidism, Type Ia:

41
Bone, Thyroid, Skin, Spinal Cord, Pituitary, Eye, Cortex

Publications for Pseudohypoparathyroidism, Type Ia

Articles related to Pseudohypoparathyroidism, Type Ia:

(show top 50) (show all 349)
# Title Authors PMID Year
1
Human G(salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, a potential cell-specific role of the palmitoylation cycle. 38 8 71
17962410 2007
2
GNAS locus and pseudohypoparathyroidism. 38 8 71
15711092 2005
3
Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. 38 8 71
11095461 2000
4
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. 38 8 71
2109828 1990
5
Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy. 8 71
11073544 2000
6
Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. 8 71
2122458 1990
7
Pseudohypoparathyroidism: report on a family with four affected sisters. 8 71
219790 1979
8
The GNAS locus and pseudohypoparathyroidism. 38 8
18372789 2008
9
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. 38 8
17405843 2007
10
A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency. 38 71
17299070 2007
11
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. 38 8
15070926 2004
12
Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene. 38 8
12970263 2003
13
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. 38 71
11784876 2002
14
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. 38 71
11600516 2001
15
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. 38 71
11450852 2001
16
Resistance to the lipolytic action of epinephrine: a new feature of protein Gs deficiency. 38 8
10566660 1999
17
Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy. 38 71
10487696 1999
18
GNAS1 mutational analysis in pseudohypoparathyroidism. 38 71
9876352 1998
19
An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism. 38 71
9506752 1998
20
A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism. 38 71
9328353 1997
21
Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation. 38 71
8702665 1996
22
Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene. 38 71
8557265 1996
23
Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy. 38 8
7853365 1994
24
Parental origin of transcription from the human GNAS1 gene. 38 8
7815417 1994
25
Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting. 38 8
8151649 1994
26
Endocrine and molecular biological studies in a German family with Albright hereditary osteodystrophy. 38 8
8444241 1993
27
Imprinting in Albright's hereditary osteodystrophy. 38 8
8383205 1993
28
Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter. 38 8
1356667 1992
29
Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy. 38 8
2829196 1988
30
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. 38 8
3003142 1986
31
Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia. 38 8
3934357 1985
32
Father to son transmission of decreased Ns activity in pseudohypoparathyroidism type Ia. 38 8
6090498 1984
33
Pseudohypoparathyroidism. 38 8
6344759 1983
34
Albright's hereditary osteodystrophy: a review. 38 8
6278930 1982
35
Probable autosomal recessive inheritance in a family with Albright's hereditary osteodystrophy and an evaluation of the genetics of the disorder. 38 8
4359274 1973
36
Autosomal dominant inheritance in Albright's hereditary osteodystrophy. 38 8
5125407 1971
37
PSEUDO-PSEUDOHYPOPARATHYROIDISM (ALBRIGHT'S HEREDITARY OSTEODYSTROPHY): A FAMILY STUDY. 38 8
14117275 1964
38
Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. With a report of two cases representing the complete syndrome occurring in successive generations. 38 8
14469327 1962
39
Disorders of GNAS Inactivation 71
29072892 2017
40
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects. 8
19858129 2010
41
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. 71
18553568 2008
42
A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance. 8
18182455 2008
43
Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency. 8
17652219 2007
44
Mutations in the Gs alpha gene causing hormone resistance. 8
17161328 2006
45
The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. 8
12970307 2003
46
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. 8
12970262 2003
47
Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy. 8
12407707 2002
48
GNAS1 mutations and progressive osseous heteroplasia. 71
12024004 2002
49
Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly. 8
11254676 2001
50
The expanding spectrum of G protein diseases. 8
10099144 1999

Variations for Pseudohypoparathyroidism, Type Ia

ClinVar genetic disease variations for Pseudohypoparathyroidism, Type Ia:

6 (show all 25)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GNAS GNAS, 2-BP DEL, TG, EXON 11 deletion Pathogenic
2 GNAS GNAS, 1-BP DEL, C, EXON 1 deletion Pathogenic
3 GNAS GNAS, 1-BP DEL, 348C deletion Pathogenic
4 GNAS GNAS, 2-BP DEL, CT, EXON 4 deletion Pathogenic
5 GNAS GNAS, 2-BP DEL, GA, EXON 8 deletion Pathogenic
6 GNAS NM_001077488.4(GNAS): c.695G> A (p.Arg232His) single nucleotide variant Pathogenic rs137854538 20:57484608-57484608 20:58909553-58909553
7 GNAS NM_001077488.4(GNAS): c.568_571del (p.Asp190fs) deletion Pathogenic rs587776829 20:57484251-57484254 20:58909196-58909199
8 GNAS GNAS, 38-BP DEL, EX1/IVS1 BOUNDARY deletion Pathogenic
9 GNAS NM_001077488.4(GNAS): c.753C> G (p.Ser251Arg) single nucleotide variant Pathogenic rs137854534 20:57484770-57484770 20:58909715-58909715
10 GNAS NM_001077488.4(GNAS): c.496C> T (p.Arg166Cys) single nucleotide variant Pathogenic rs137854532 20:57480498-57480498 20:58905443-58905443
11 GNAS NM_001077488.4(GNAS): c.299T> C (p.Leu100Pro) single nucleotide variant Pathogenic rs137854531 20:57478624-57478624 20:58903569-58903569
12 GNAS GNAS, IVS3AS, A-G, -12 single nucleotide variant Pathogenic
13 GNAS GNAS, 1-BP DEL, 725C deletion Pathogenic
14 GNAS GNAS, IVS10DS, G-C, +1 single nucleotide variant Pathogenic
15 GNAS NM_001077488.4(GNAS): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs797045046 20:57466815-57466815 20:58891760-58891760
16 GNAS GNAS, 12-BP INS, NT1107 insertion Pathogenic
17 GNAS GNAS, 1-BP INS, A, EXON 3 insertion Pathogenic
18 GNAS NM_001077488.4(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 20:57466866-57466866 20:58891811-58891811
19 GNAS NM_001077488.4(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854530 20:57466782-57466782 20:58891727-58891727
20 GNAS NM_080425.3(GNAS): c.475G> A (p.Glu159Lys) single nucleotide variant Likely pathogenic rs1135401777 20:57428795-57428795 20:58853740-58853740
21 GNAS NM_001077488.4(GNAS): c.347C> T (p.Pro116Leu) single nucleotide variant Likely pathogenic rs137854539 20:57478758-57478758 20:58903703-58903703
22 GNAS NM_001077488.4(GNAS): c.280C> T (p.Gln94Ter) single nucleotide variant Likely pathogenic 20:57478605-57478605 20:58903550-58903550
23 GNAS NM_001077488.4(GNAS): c.883C> T (p.Gln295Ter) single nucleotide variant Likely pathogenic rs863224876 20:57485046-57485046 20:58909991-58909991
24 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 20:57429520-57429520 20:58854465-58854465
25 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 20:57429775-57429775 20:58854720-58854720

UniProtKB/Swiss-Prot genetic disease variations for Pseudohypoparathyroidism, Type Ia:

74 (show all 16)
# Symbol AA change Variation ID SNP ID
1 GNAS p.Leu99Pro VAR_003439 rs137854531
2 GNAS p.Arg165Cys VAR_003440 rs137854532
3 GNAS p.Arg385His VAR_003444
4 GNAS p.Arg258Trp VAR_015388 rs137854535
5 GNAS p.Pro115Leu VAR_017843 rs137854539
6 GNAS p.Arg231His VAR_017848 rs137854538
7 GNAS p.Ser250Arg VAR_017849 rs137854534
8 GNAS p.Ala366Ser VAR_017850 rs137854537
9 GNAS p.Asp156Asn VAR_031873
10 GNAS p.Val159Met VAR_031874
11 GNAS p.Thr242Ile VAR_031875
12 GNAS p.Phe246Ser VAR_031876
13 GNAS p.Glu259Val VAR_031877
14 GNAS p.Arg280Gly VAR_031878
15 GNAS p.Arg280Lys VAR_031879
16 GNAS p.Lys338Asn VAR_031881

Expression for Pseudohypoparathyroidism, Type Ia

Search GEO for disease gene expression data for Pseudohypoparathyroidism, Type Ia.

Pathways for Pseudohypoparathyroidism, Type Ia

Pathways related to Pseudohypoparathyroidism, Type Ia according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.23 TRH PTH PRL GNAS GH1
2
Show member pathways
13.16 PRL IGF1 GNAS GNA11 GH1
3
Show member pathways
12.76 PRL IGF1 GNAS GNA11 GH1
4
Show member pathways
12.67 IGF1 GNAS GNA11 GH1
5
Show member pathways
12.64 IGF1 GNAS GNA11 GH1
6
Show member pathways
12.57 PRL IGF1 GNAS GH1
7
Show member pathways
12.28 IGF1 GNAS GNA11
8 11.52 PTH GNAS GNA11
9 11.28 GNAS GNA11
10 11.26 IGF1 GNAS
11 11.25 IGF1 GNAS GNA11 GH1
12 11.24 GNAS GNA11
13 11.19 PTH IGF1
14 11.14 PTH IGF1 GH1
15
Show member pathways
11.12 PRL GH1
16 11.05 IGF1 GNAS GNA11
17 10.91 IGF1 GNAS GNA11
18 10.61 IGF1 GNAS GNA11 GH1
19 10.39 PTH GNAS GNA11

GO Terms for Pseudohypoparathyroidism, Type Ia

Cellular components related to Pseudohypoparathyroidism, Type Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 TRH PTH PRL IGF1 GNAS GH1
2 heterotrimeric G-protein complex GO:0005834 9.16 GNAS GNA11
3 endosome lumen GO:0031904 8.62 PRL GH1

Biological processes related to Pseudohypoparathyroidism, Type Ia according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of osteoblast differentiation GO:0045669 9.52 IGF1 GNAS
2 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.51 GNAS GNA11
3 response to drug GO:0042493 9.49 PTH GNAS
4 positive regulation of glucose import GO:0046326 9.48 PTH IGF1
5 regulation of multicellular organism growth GO:0040014 9.46 PRL IGF1
6 positive regulation of JAK-STAT cascade GO:0046427 9.43 PRL GH1
7 positive regulation of glycogen biosynthetic process GO:0045725 9.4 PTH IGF1
8 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.37 IGF1 GH1
9 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.32 PRL GH1
10 response to ethanol GO:0045471 9.26 TRH PTH
11 positive regulation of epithelial cell proliferation GO:0050679 9.24 IGF1
12 response to parathyroid hormone GO:0071107 9.16 PTH GNAS
13 response to nutrient levels GO:0031667 9.13 PTH PRL GH1
14 skeletal system development GO:0001501 8.92 PTH IGF1 GNAS GNA11

Molecular functions related to Pseudohypoparathyroidism, Type Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G-protein beta/gamma-subunit complex binding GO:0031683 9.32 GNAS GNA11
2 guanyl nucleotide binding GO:0019001 9.26 GNAS GNA11
3 insulin-like growth factor receptor binding GO:0005159 9.16 IGF1 GNAS
4 hormone activity GO:0005179 9.02 TRH PTH PRL IGF1 GH1
5 prolactin receptor binding GO:0005148 8.96 PRL GH1

Sources for Pseudohypoparathyroidism, Type Ia

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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