PHP1A
MCID: PSD108
MIFTS: 56

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 58 74
Albright Hereditary Osteodystrophy with Multiple Hormone Resistance 58 76
Pseudohypoparathyroidism Ia 58 13
Php1a 58 76
Albright Hereditary Osteodystrophy-Php Syndrome Ia 60
Albright's Hereditary Osteodystrophy 74
Pseudohypoparathyroidism, Type Ia ) 41
Albright Hereditary Osteodystrophy 76
Pseudohypoparathyroidism Type 1a 60
Pseudohypoparathyroidism 1a 76
Pseudohypoparathyroidism 74
Aho-Php Syndrome Ia 60
Php Ia 58
Aho 76

Characteristics:

Orphanet epidemiological data:

60
pseudohypoparathyroidism type 1a
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
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:

33
pseudohypoparathyroidism, type ia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Pseudohypoparathyroidism, Type Ia

OMIM : 58 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 hereditary osteodystrophy with multiple hormone resistance, is related to growth hormone deficiency and mccune-albright syndrome, 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 tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and bone, and related phenotypes are pseudohypoparathyroidism and short stature

UniProtKB/Swiss-Prot : 76 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 : 77 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 112)
# Related Disease Score Top Affiliating Genes
1 growth hormone deficiency 30.3 GH1 IGF1
2 mccune-albright syndrome 29.2 GH1 GNAS IGF1 PRL
3 hypothyroidism 29.0 GH1 GNAS IGF1 PRL TRH
4 chromosome 2q37 deletion syndrome 12.2
5 2q37 deletion syndrome 11.9
6 albright's hereditary osteodystrophy 11.7
7 pseudopseudohypoparathyroidism 11.7
8 pseudohypoparathyroidism, type ii 11.1
9 pseudohypoparathyroidism, type ib 11.1
10 pseudohypoparathyroidism 10.9
11 bowenoid papulosis 10.3
12 osseous heteroplasia, progressive 10.2
13 craniosynostosis 10.2
14 congenital hypothyroidism 10.2
15 neurofibromatosis, type ii 10.1
16 blepharophimosis, ptosis, and epicanthus inversus 10.1
17 carpal tunnel syndrome 10.1
18 epicanthus 10.1
19 legg-calve-perthes disease 10.1
20 mononeuropathy of the median nerve, mild 10.1
21 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 10.1
22 cataract 10.1
23 spinal stenosis 10.1
24 ptosis 10.1
25 blepharophimosis 10.1
26 xp22.3 microdeletion syndrome 10.1
27 nevus comedonicus 10.1
28 precocious puberty 10.1 GH1 GNAS
29 hormone producing pituitary cancer 10.1 GNAS IGF1
30 chiari malformation type i 10.0
31 gallbladder disease 1 10.0
32 brachydactyly 10.0
33 diarrhea 10.0
34 calcinosis 10.0
35 epilepsy 10.0
36 chiari malformation 10.0
37 testotoxicosis 10.0
38 familial male-limited precocious puberty 10.0
39 central precocious puberty 10.0 GH1 IGF1
40 diabetes mellitus, noninsulin-dependent 10.0
41 hypothyroidism, congenital, nongoitrous, 1 10.0
42 body mass index quantitative trait locus 1 10.0
43 anxiety 10.0
44 leptin deficiency or dysfunction 10.0
45 bipolar disorder 10.0
46 renal tubular acidosis 10.0
47 sleep apnea 10.0
48 renal tubular acidosis, distal 10.0
49 seizure disorder 10.0
50 marasmus 10.0 GH1 IGF1

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:

60 33 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pseudohypoparathyroidism 60 33 obligate (100%) Obligate (100%) HP:0000852
2 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
3 round face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000311
4 elevated circulating parathyroid hormone level 60 33 hallmark (90%) Very frequent (99-80%) HP:0003165
5 hyperphosphatemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002905
6 low urinary cyclic amp response to pth administration 60 33 hallmark (90%) Very frequent (99-80%) HP:0003456
7 pituitary resistance to thyroid hormone 60 33 hallmark (90%) Very frequent (99-80%) HP:0008227
8 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
9 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513
10 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
11 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
12 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
13 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
14 thickened calvaria 60 33 frequent (33%) Frequent (79-30%) HP:0002684
15 full cheeks 60 33 frequent (33%) Frequent (79-30%) HP:0000293
16 delayed eruption of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000684
17 short 4th metacarpal 60 33 frequent (33%) Frequent (79-30%) HP:0010044
18 short 5th metacarpal 60 33 frequent (33%) Frequent (79-30%) HP:0010047
19 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
20 increased bone mineral density 60 33 frequent (33%) Frequent (79-30%) HP:0011001
21 polyphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002591
22 growth hormone deficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000824
23 short fifth metatarsal 60 33 frequent (33%) Frequent (79-30%) HP:0004704
24 hypoplasia of dental enamel 60 33 frequent (33%) Frequent (79-30%) HP:0006297
25 ectopic ossification 60 33 frequent (33%) Frequent (79-30%) HP:0011986
26 basal ganglia calcification 60 33 frequent (33%) Frequent (79-30%) HP:0002135
27 choroid plexus calcification 60 33 frequent (33%) Frequent (79-30%) HP:0006960
28 constrictive median neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0012185
29 broad 1st metacarpal 60 33 frequent (33%) Frequent (79-30%) HP:0010027
30 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716
31 hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0000822
32 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
33 dyspnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002094
34 irritability 60 33 occasional (7.5%) Occasional (29-5%) HP:0000737
35 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
36 reduced bone mineral density 60 33 occasional (7.5%) Occasional (29-5%) HP:0004349
37 anxiety 60 33 occasional (7.5%) Occasional (29-5%) HP:0000739
38 prolonged qt interval 60 33 occasional (7.5%) Occasional (29-5%) HP:0001657
39 paresthesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003401
40 hypergonadotropic hypogonadism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000815
41 confusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0001289
42 chest pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0100749
43 conjunctivitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000509
44 abnormal platelet function 60 33 occasional (7.5%) Occasional (29-5%) HP:0011869
45 hyporeflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001265
46 choreoathetosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001266
47 myoclonic spasms 60 33 occasional (7.5%) Occasional (29-5%) HP:0003739
48 spinal cord compression 60 33 occasional (7.5%) Occasional (29-5%) HP:0002176
49 band keratopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000585
50 oligomenorrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000876

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Pseudohypoparathyroidism, Type Ia

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
3
Theophylline Approved Phase 4,Phase 2 58-55-9 2153
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
Calcium Approved, Nutraceutical 7440-70-2 271
23
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
24
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
25
Calcitriol Approved, Nutraceutical 32222-06-3 5280453 134070
26 Hormones Not Applicable
27 Nutrients
28 Calciferol
29 Vitamin D2
30 Vitamins
31 Calcium, Dietary
32 Trace Elements
33 Hormones, Hormone Substitutes, and Hormone Antagonists
34 Ergocalciferols
35 Bone Density Conservation Agents
36 Micronutrients
37 Hormone Antagonists

Interventional clinical trials:

(show all 12)
# 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 Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments Recruiting NCT00209235 Not Applicable
7 Energy Expenditure and Body Composition in Pseudohypoparathyroidism 1a Terminated NCT01398774
8 Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism Completed NCT02411461
9 Glucose Homeostasis in Pseudohypoparathyroidism Not yet recruiting NCT03761290
10 Resistance to Vitamin D or Parathyroid Hormone Recruiting NCT00001242
11 Study of the Regulation of Parathyroid Hormone Secretion in Pseudohypoparathyroidism Completed NCT00004661
12 Characterization of Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism Active, not recruiting NCT02551120

Search NIH Clinical Center for Pseudohypoparathyroidism, Type Ia

Genetic Tests for Pseudohypoparathyroidism, Type Ia

Anatomical Context for Pseudohypoparathyroidism, Type Ia

MalaCards organs/tissues related to Pseudohypoparathyroidism, Type Ia:

42
Pituitary, Thyroid, Bone, Spinal Cord, Skin, Eye, Brain

Publications for Pseudohypoparathyroidism, Type Ia

Articles related to Pseudohypoparathyroidism, Type Ia:

(show all 48)
# Title Authors Year
1
A case of pseudohypoparathyroidism type Ia with a novel frameshift mutation in the GNAS gene: early diagnosis of osteoma cutis by skin biopsy. ( 30745729 )
2019
2
Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene. ( 27425121 )
2017
3
A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B. ( 28711660 )
2017
4
A novel mutation in a case of pseudohypoparathyroidism type Ia. ( 27922245 )
2016
5
The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link? ( 27703483 )
2016
6
A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene. ( 25802881 )
2015
7
Analysis of aberrantly spliced transcripts of a novel de novo GNAS mutant in a male with albright hereditary osteodystrophy and PHP1A. ( 25502941 )
2015
8
Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia. ( 25045367 )
2014
9
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations. ( 23281139 )
2013
10
Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism. ( 23412865 )
2013
11
Pseudohypoparathyroidism type Ia manifesting as intractable epilepsy in a 23-year-old female. ( 23754923 )
2012
12
A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus. ( 22140064 )
2012
13
Chiari type 1 anomaly in pseudohypoparathyroidism type Ia: pathogenetic hypothesis. ( 21994050 )
2011
14
A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones. ( 21823526 )
2011
15
Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth. ( 20719837 )
2010
16
Clinical, biochemical, and genetic analysis of korean patients with pseudohypoparathyroidism type Ia. ( 20689139 )
2010
17
Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia. ( 19658058 )
2010
18
A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type Ia and normal serum calcium and phosphate levels. ( 21340160 )
2010
19
Pseudohypoparathyroidism type IA (PHP-Ia): maternally inherited GNAS gene mutation. ( 19449667 )
2009
20
Hypothyroidism in patients with pseudohypoparathyroidism type Ia: clinical evidence of resistance to TSH and TRH. ( 18805917 )
2008
21
New mutation type in pseudohypoparathyroidism type Ia. ( 18394017 )
2008
22
A pseudohypoparathyroidism type Ia patient with normocalcemia. ( 18250541 )
2008
23
Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha. ( 17803690 )
2008
24
Longitudinal growth of the short bones of the hand in a girl with pseudohypoparathyroidism type ia. ( 24790341 )
2007
25
Human G(salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, a potential cell-specific role of the palmitoylation cycle. ( 17962410 )
2007
26
GH secretion in a cohort of children with pseudohypoparathyroidism type Ia. ( 17392598 )
2007
27
Progressive osseous heteroplasia-like heterotopic ossification in a male infant with pseudohypoparathyroidism type Ia: a case report. ( 17321228 )
2007
28
Two cases of pseudohypoparathyroidism type ia in duozygotic twins with different phenotypes. ( 24790309 )
2005
29
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene. ( 15817905 )
2005
30
Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1. ( 16116826 )
2005
31
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. ( 15070926 )
2004
32
Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene. ( 12970263 )
2003
33
Pictorial CME. Pseudohypoparathyroidism type IA. ( 12693463 )
2003
34
Pseudohypoparathyroidism type Ia and growth hormone deficiency. Growth hormone releasing hormone receptor defect? ( 17018438 )
2002
35
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. ( 11450852 )
2001
36
Pseudohypoparathyroidism type IA and II with severe neuropsychic manifestations. ( 11297164 )
2001
37
Pseudohypoparathyroidism type Ia. Albright hereditary osteodystrophy: a model for research on G protein-coupled receptors and genomic imprinting. ( 10759021 )
2000
38
Pseudohypoparathyroidism type Ia: late presentation with intact mental development. ( 9661086 )
1998
39
Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation. ( 9600732 )
1998
40
Concurrent hormone resistance (pseudohypoparathyroidism type Ia) and hormone independence (testotoxicosis) caused by a unique mutation in the G alpha s gene. ( 8809352 )
1996
41
Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene. ( 8557265 )
1996
42
Pseudohypoparathyroidism type Ia and growth hormone deficiency in two siblings. ( 8521196 )
1995
43
Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting. ( 8151649 )
1994
44
Prevalence of three mutations in the Gs alpha gene among 24 families with pseudohypoparathyroidism type Ia. ( 1449489 )
1992
45
Intracardiac calcifications in a case of pseudohypoparathyroidism type Ia (PHP-Ia). ( 1518745 )
1992
46
Reduced expression of multiple forms of the alpha subunit of the stimulatory GTP-binding protein in pseudohypoparathyroidism type Ia. ( 2890163 )
1987
47
Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia. ( 3934357 )
1985
48
Father to son transmission of decreased Ns activity in pseudohypoparathyroidism type Ia. ( 6090498 )
1984

Variations for Pseudohypoparathyroidism, Type Ia

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

76 (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

ClinVar genetic disease variations for Pseudohypoparathyroidism, Type Ia:

6 (show all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAS NM_000516.5(GNAS): c.565_568delGACT (p.Asp189Metfs) deletion Pathogenic rs587776829 GRCh37 Chromosome 20, 57484251: 57484254
2 GNAS NM_000516.5(GNAS): c.565_568delGACT (p.Asp189Metfs) deletion Pathogenic rs587776829 GRCh38 Chromosome 20, 58909196: 58909199
3 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh37 Chromosome 20, 57429520: 57429520
4 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh38 Chromosome 20, 58854465: 58854465
5 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh37 Chromosome 20, 57429775: 57429775
6 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh38 Chromosome 20, 58854720: 58854720
7 GNAS GNAS, 12-BP INS, NT1107 insertion Pathogenic
8 GNAS GNAS, 1-BP INS, A, EXON 3 insertion Pathogenic
9 GNAS NM_001077488.3(GNAS): c.347C> T (p.Pro116Leu) single nucleotide variant Pathogenic rs137854539 GRCh38 Chromosome 20, 58903703: 58903703
10 GNAS NM_001077488.3(GNAS): c.347C> T (p.Pro116Leu) single nucleotide variant Pathogenic rs137854539 GRCh37 Chromosome 20, 57478758: 57478758
11 GNAS GNAS, 2-BP DEL, TG, EXON 11 deletion Pathogenic
12 GNAS GNAS, 1-BP DEL, C, EXON 1 deletion Pathogenic
13 GNAS GNAS, 1-BP DEL, 348C deletion Pathogenic
14 GNAS GNAS, 2-BP DEL, CT, EXON 4 deletion Pathogenic
15 GNAS GNAS, 2-BP DEL, GA, EXON 8 deletion Pathogenic
16 GNAS NM_001077488.3(GNAS): c.695G> A (p.Arg232His) single nucleotide variant Pathogenic rs137854538 GRCh38 Chromosome 20, 58909553: 58909553
17 GNAS NM_001077488.3(GNAS): c.695G> A (p.Arg232His) single nucleotide variant Pathogenic rs137854538 GRCh37 Chromosome 20, 57484608: 57484608
18 GNAS GNAS, 38-BP DEL, EX1/IVS1 BOUNDARY deletion Pathogenic
19 GNAS NM_001077488.3(GNAS): c.753C> G (p.Ser251Arg) single nucleotide variant Pathogenic rs137854534 GRCh38 Chromosome 20, 58909715: 58909715
20 GNAS NM_001077488.3(GNAS): c.753C> G (p.Ser251Arg) single nucleotide variant Pathogenic rs137854534 GRCh37 Chromosome 20, 57484770: 57484770
21 GNAS NM_000516.5(GNAS): c.493C> T (p.Arg165Cys) single nucleotide variant Pathogenic rs137854532 GRCh38 Chromosome 20, 58905443: 58905443
22 GNAS NM_000516.5(GNAS): c.493C> T (p.Arg165Cys) single nucleotide variant Pathogenic rs137854532 GRCh37 Chromosome 20, 57480498: 57480498
23 GNAS NM_001077488.3(GNAS): c.299T> C (p.Leu100Pro) single nucleotide variant Pathogenic rs137854531 GRCh38 Chromosome 20, 58903569: 58903569
24 GNAS NM_001077488.3(GNAS): c.299T> C (p.Leu100Pro) single nucleotide variant Pathogenic rs137854531 GRCh37 Chromosome 20, 57478624: 57478624
25 GNAS GNAS, IVS3AS, A-G, -12 single nucleotide variant Pathogenic
26 GNAS GNAS, 1-BP DEL, 725C deletion Pathogenic
27 GNAS GNAS, IVS10DS, G-C, +1 single nucleotide variant Pathogenic
28 GNAS NM_000516.5(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854530 GRCh38 Chromosome 20, 58891727: 58891727
29 GNAS NM_000516.5(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854530 GRCh37 Chromosome 20, 57466782: 57466782
30 GNAS NM_000516.5(GNAS): c.880C> T (p.Gln294Ter) single nucleotide variant Likely pathogenic rs863224876 GRCh38 Chromosome 20, 58909991: 58909991
31 GNAS NM_000516.5(GNAS): c.880C> T (p.Gln294Ter) single nucleotide variant Likely pathogenic rs863224876 GRCh37 Chromosome 20, 57485046: 57485046
32 GNAS NM_000516.5(GNAS): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs797045046 GRCh38 Chromosome 20, 58891760: 58891760
33 GNAS NM_000516.5(GNAS): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs797045046 GRCh37 Chromosome 20, 57466815: 57466815
34 GNAS NM_001077488.3(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 GRCh38 Chromosome 20, 58891811: 58891811
35 GNAS NM_001077488.3(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 GRCh37 Chromosome 20, 57466866: 57466866
36 GNAS NM_080425.3(GNAS): c.475G> A (p.Glu159Lys) single nucleotide variant Likely pathogenic rs1135401777 GRCh37 Chromosome 20, 57428795: 57428795
37 GNAS NM_080425.3(GNAS): c.475G> A (p.Glu159Lys) single nucleotide variant Likely pathogenic rs1135401777 GRCh38 Chromosome 20, 58853740: 58853740

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 GH1 GNAS PRL TRH
2
Show member pathways
13 GH1 GNAS IGF1 PRL
3
Show member pathways
12.55 GH1 GNAS IGF1
4
Show member pathways
12.25 GH1 GNAS IGF1 PRL
5
Show member pathways
11.76 GH1 GNAS IGF1 PRL
6 11.63 GH1 IGF1
7 11.22 GH1 IGF1
8 11.15 GNAS IGF1
9 11.02 GH1 GNAS IGF1
10 11.01 GNAS IGF1
11
Show member pathways
10.87 GH1 PRL
12 10.51 GH1 GNAS IGF1

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 9.35 GH1 GNAS IGF1 PRL TRH
2 secretory granule GO:0030141 8.85 TRH
3 endosome lumen GO:0031904 8.62 GH1 PRL

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 female pregnancy GO:0007565 9.51 GNAS PRL
2 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.49 GH1 IGF1
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.48 GH1 IGF1
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.46 GH1 IGF1
5 positive regulation of osteoblast differentiation GO:0045669 9.4 GNAS IGF1
6 response to nutrient levels GO:0031667 9.37 GH1 PRL
7 regulation of multicellular organism growth GO:0040014 9.32 IGF1 PRL
8 positive regulation of JAK-STAT cascade GO:0046427 9.26 GH1 PRL
9 response to organic cyclic compound GO:0014070 9.25 TRH
10 response to ethanol GO:0045471 9.24 TRH
11 response to estradiol GO:0032355 9.22 GH1
12 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.16 GH1 PRL
13 positive regulation of epithelial cell proliferation GO:0050679 9.13 IGF1
14 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.96 GH1 IGF1
15 regulation of signaling receptor activity GO:0010469 8.92 GH1 IGF1 PRL TRH

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

# Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor receptor binding GO:0005159 9.16 GNAS IGF1
2 prolactin receptor binding GO:0005148 8.96 GH1 PRL
3 hormone activity GO:0005179 8.92 GH1 IGF1 PRL TRH

Sources for Pseudohypoparathyroidism, Type Ia

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
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
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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