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 57 73
Albright Hereditary Osteodystrophy with Multiple Hormone Resistance 57 75
Pseudohypoparathyroidism Ia 57 13
Php1a 57 75
Albright Hereditary Osteodystrophy-Php Syndrome Ia 59
Albright's Hereditary Osteodystrophy 73
Pseudohypoparathyroidism, Type Ia ) 40
Albright Hereditary Osteodystrophy 75
Pseudohypoparathyroidism Type 1a 59
Pseudohypoparathyroidism 1a 75
Pseudohypoparathyroidism 73
Aho-Php Syndrome Ia 59
Php Ia 57
Aho 75

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:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



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 hereditary osteodystrophy with multiple hormone resistance, is related to growth hormone deficiency and hypothyroidism, 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 Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, bone and skin, and related phenotypes are short neck and obesity

UniProtKB/Swiss-Prot : 75 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 : 76 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 105)
# Related Disease Score Top Affiliating Genes
1 growth hormone deficiency 30.3 GH1 IGF1
2 hypothyroidism 29.5 TRH PRL IGF1 GNAS GH1
3 mccune-albright syndrome 29.5 PRL IGF1 GNAS GH1
4 chromosome 2q37 deletion syndrome 12.2
5 2q37 deletion syndrome 11.9
6 pseudopseudohypoparathyroidism 11.6
7 albright's hereditary osteodystrophy 11.6
8 pseudohypoparathyroidism, type ic 11.5
9 pseudohypoparathyroidism, type ii 11.0
10 pseudohypoparathyroidism, type ib 11.0
11 pseudohypoparathyroidism 10.9
12 craniosynostosis 10.2
13 congenital hypothyroidism 10.2
14 neonatal 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 body mass index quantitative trait locus 1 10.1
21 mononeuropathy of the median nerve, mild 10.1
22 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 10.1
23 cataract 10.1
24 spinal stenosis 10.1
25 ptosis 10.1
26 blepharophimosis 10.1
27 precocious puberty 10.1 GH1 GNAS
28 hormone producing pituitary cancer 10.0 GNAS IGF1
29 chiari malformation type i 10.0
30 osseous heteroplasia, progressive 10.0
31 brachydactyly 10.0
32 diarrhea 10.0
33 calcinosis 10.0
34 epilepsy 10.0
35 chiari malformation 10.0
36 testotoxicosis 10.0
37 marasmus 10.0 GH1 IGF1
38 cone-rod dystrophy 12 10.0 GH1 IGF1
39 isolated growth hormone deficiency, type ib 10.0 GH1 IGF1
40 isolated growth hormone deficiency 10.0 GH1 IGF1
41 hypothyroidism, congenital, nongoitrous, 1 10.0
42 bipolar disorder 10.0
43 morbid obesity 10.0
44 renal tubular acidosis 10.0
45 sleep apnea 10.0
46 renal tubular acidosis, distal 10.0
47 traumatic brain injury 10.0 GH1 IGF1
48 goiter 10.0 GNAS TRH
49 laron syndrome 10.0 GH1 IGF1
50 isolated growth hormone deficiency, type ii 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

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

Human phenotypes related to Pseudohypoparathyroidism, Type Ia:

59 32 (show top 50) (show all 75)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
2 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
3 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
4 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
5 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
6 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
7 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
8 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
9 thickened calvaria 59 32 frequent (33%) Frequent (79-30%) HP:0002684
10 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
11 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
12 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
13 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
14 irritability 59 32 occasional (7.5%) Occasional (29-5%) HP:0000737
15 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
16 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
17 reduced bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0004349
18 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
19 short 4th metacarpal 59 32 frequent (33%) Frequent (79-30%) HP:0010044
20 short 5th metacarpal 59 32 frequent (33%) Frequent (79-30%) HP:0010047
21 prolonged qt interval 59 32 occasional (7.5%) Occasional (29-5%) HP:0001657
22 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
23 hypergonadotropic hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000815
24 muscle cramps 59 32 occasional (7.5%) Occasional (29-5%) HP:0003394
25 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
26 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
27 chest pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0100749
28 elevated circulating parathyroid hormone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003165
29 conjunctivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000509
30 abnormal platelet function 59 32 occasional (7.5%) Occasional (29-5%) HP:0011869
31 increased bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0011001
32 hyporeflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001265
33 choreoathetosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001266
34 myoclonic spasms 59 32 occasional (7.5%) Occasional (29-5%) HP:0003739
35 polyphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002591
36 short metacarpal 59 32 Frequent (79-30%) HP:0010049
37 pseudohypoparathyroidism 59 32 obligate (100%) Obligate (100%) HP:0000852
38 confusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0001289
39 hyperphosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002905
40 prolactin deficiency 59 32 very rare (1%) Very rare (<4-1%) HP:0008202
41 short metatarsal 59 32 Frequent (79-30%) HP:0010743
42 growth hormone deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000824
43 hypoplasia of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0006297
44 hypocalcemic seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0002199
45 spinal cord compression 59 32 occasional (7.5%) Occasional (29-5%) HP:0002176
46 band keratopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000585
47 short fifth metatarsal 59 32 frequent (33%) Frequent (79-30%) HP:0004704
48 oligomenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000876
49 abdominal symptom 59 32 occasional (7.5%) Occasional (29-5%) HP:0011458
50 ectopic ossification 59 32 frequent (33%) Frequent (79-30%) HP:0011986

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 34)
# 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
Calcitriol Approved, Nutraceutical 32222-06-3 5280453 134070
22
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
23
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
24 Hormones Not Applicable
25 Calciferol
26 Trace Elements
27 Ergocalciferols
28 Calcium, Dietary
29 Hormones, Hormone Substitutes, and Hormone Antagonists
30 Micronutrients
31 Hormone Antagonists
32 Bone Density Conservation Agents
33 Vitamin D2
34 Vitamins

Interventional clinical trials:


# 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

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:

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

Publications for Pseudohypoparathyroidism, Type Ia

Articles related to Pseudohypoparathyroidism, Type Ia:

(show all 46)
# Title Authors Year
1
The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link? ( 27703483 )
2016
2
Pseudohypoparathyroidism Type IA Subclinical Hypothyroidism and Rapid Weight Gain weight As Early Clinical Signs. A clinical Study of 10 Cases. ( 27467896 )
2016
3
A novel mutation in a case of pseudohypoparathyroidism type Ia. ( 27922245 )
2016
4
Longitudinal Observation in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation of the GNAS Gene. ( 27425121 )
2016
5
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
6
Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia. ( 25045367 )
2014
7
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations. ( 23281139 )
2013
8
Pseudohypoparathyroidism type Ia: a novel GNAS mutation in a Brazilian boy presenting with an early primary hypothyroidism. ( 23412865 )
2013
9
Pseudohypoparathyroidism type Ia manifesting as intractable epilepsy in a 23-year-old female. ( 23754923 )
2012
10
A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus. ( 22140064 )
2012
11
Chiari type 1 anomaly in pseudohypoparathyroidism type Ia: pathogenetic hypothesis. ( 21994050 )
2011
12
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
13
A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type Ia and normal serum calcium and phosphate levels. ( 21340160 )
2010
14
Clinical, biochemical, and genetic analysis of korean patients with pseudohypoparathyroidism type Ia. ( 20689139 )
2010
15
Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia. ( 19658058 )
2010
16
Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth. ( 20719837 )
2010
17
Pseudohypoparathyroidism type IA (PHP-Ia): maternally inherited GNAS gene mutation. ( 19449667 )
2009
18
Hypothyroidism in patients with pseudohypoparathyroidism type Ia: clinical evidence of resistance to TSH and TRH. ( 18805917 )
2008
19
Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha. ( 17803690 )
2008
20
A pseudohypoparathyroidism type Ia patient with normocalcemia. ( 18250541 )
2008
21
New mutation type in pseudohypoparathyroidism type Ia. ( 18394017 )
2008
22
GH secretion in a cohort of children with pseudohypoparathyroidism type Ia. ( 17392598 )
2007
23
Progressive osseous heteroplasia-like heterotopic ossification in a male infant with pseudohypoparathyroidism type Ia: a case report. ( 17321228 )
2007
24
Human G(salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, a potential cell-specific role of the palmitoylation cycle. ( 17962410 )
2007
25
Longitudinal growth of the short bones of the hand in a girl with pseudohypoparathyroidism type ia. ( 24790341 )
2007
26
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene. ( 15817905 )
2005
27
Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1. ( 16116826 )
2005
28
Two cases of pseudohypoparathyroidism type ia in duozygotic twins with different phenotypes. ( 24790309 )
2005
29
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. ( 15070926 )
2004
30
Pictorial CME. Pseudohypoparathyroidism type IA. ( 12693463 )
2003
31
Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene. ( 12970263 )
2003
32
Pseudohypoparathyroidism type Ia and growth hormone deficiency. Growth hormone releasing hormone receptor defect? ( 17018438 )
2002
33
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. ( 11450852 )
2001
34
Pseudohypoparathyroidism type IA and II with severe neuropsychic manifestations. ( 11297164 )
2001
35
Pseudohypoparathyroidism type Ia. Albright hereditary osteodystrophy: a model for research on G protein-coupled receptors and genomic imprinting. ( 10759021 )
2000
36
Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation. ( 9600732 )
1998
37
Pseudohypoparathyroidism type Ia: late presentation with intact mental development. ( 9661086 )
1998
38
Concurrent hormone resistance (pseudohypoparathyroidism type Ia) and hormone independence (testotoxicosis) caused by a unique mutation in the G alpha s gene. ( 8809352 )
1996
39
Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene. ( 8557265 )
1996
40
Pseudohypoparathyroidism type Ia and growth hormone deficiency in two siblings. ( 8521196 )
1995
41
Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting. ( 8151649 )
1994
42
Intracardiac calcifications in a case of pseudohypoparathyroidism type Ia (PHP-Ia). ( 1518745 )
1992
43
Prevalence of three mutations in the Gs alpha gene among 24 families with pseudohypoparathyroidism type Ia. ( 1449489 )
1992
44
Reduced expression of multiple forms of the alpha subunit of the stimulatory GTP-binding protein in pseudohypoparathyroidism type Ia. ( 2890163 )
1987
45
Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia. ( 3934357 )
1985
46
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:

75 (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 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAS NM_001077488.3(GNAS): c.1177G> A (p.Glu393Lys) single nucleotide variant Pathogenic rs397514456 GRCh37 Chromosome 20, 57485873: 57485873
2 GNAS NM_001077488.3(GNAS): c.1177G> A (p.Glu393Lys) single nucleotide variant Pathogenic rs397514456 GRCh38 Chromosome 20, 58910818: 58910818
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 NM_001077488.3(GNAS): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 57466783: 57466783
8 GNAS NM_001077488.3(GNAS): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 58891728: 58891728
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.565_568delGACT (p.Asp189Metfs) deletion Pathogenic rs587776829 GRCh38 Chromosome 20, 58909196: 58909199
22 GNAS NM_000516.5(GNAS): c.565_568delGACT (p.Asp189Metfs) deletion Pathogenic rs587776829 GRCh37 Chromosome 20, 57484251: 57484254
23 GNAS GNAS, 12-BP INS, NT1107 insertion Pathogenic
24 GNAS GNAS, 1-BP INS, A, EXON 3 insertion Pathogenic
25 GNAS NM_000516.5(GNAS): c.493C> T (p.Arg165Cys) single nucleotide variant Pathogenic rs137854532 GRCh38 Chromosome 20, 58905443: 58905443
26 GNAS NM_000516.5(GNAS): c.493C> T (p.Arg165Cys) single nucleotide variant Pathogenic rs137854532 GRCh37 Chromosome 20, 57480498: 57480498
27 GNAS NM_001077488.3(GNAS): c.299T> C (p.Leu100Pro) single nucleotide variant Pathogenic rs137854531 GRCh38 Chromosome 20, 58903569: 58903569
28 GNAS NM_001077488.3(GNAS): c.299T> C (p.Leu100Pro) single nucleotide variant Pathogenic rs137854531 GRCh37 Chromosome 20, 57478624: 57478624
29 GNAS GNAS, IVS3AS, A-G, -12 single nucleotide variant Pathogenic
30 GNAS GNAS, 1-BP DEL, 725C deletion Pathogenic
31 GNAS GNAS, IVS10DS, G-C, +1 single nucleotide variant Pathogenic
32 GNAS NM_000516.5(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs137854530 GRCh38 Chromosome 20, 58891727: 58891727
33 GNAS NM_000516.5(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs137854530 GRCh37 Chromosome 20, 57466782: 57466782
34 GNAS NM_080425.3(GNAS): c.475G> A (p.Glu159Lys) single nucleotide variant Likely pathogenic rs1135401777 GRCh37 Chromosome 20, 57428795: 57428795
35 GNAS NM_080425.3(GNAS): c.475G> A (p.Glu159Lys) single nucleotide variant Likely pathogenic rs1135401777 GRCh38 Chromosome 20, 58853740: 58853740
36 GNAS NM_000516.5(GNAS): c.880C> T (p.Gln294Ter) single nucleotide variant Likely pathogenic rs863224876 GRCh38 Chromosome 20, 58909991: 58909991
37 GNAS NM_000516.5(GNAS): c.880C> T (p.Gln294Ter) single nucleotide variant Likely pathogenic rs863224876 GRCh37 Chromosome 20, 57485046: 57485046
38 GNAS NM_000516.5(GNAS): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs797045046 GRCh38 Chromosome 20, 58891760: 58891760
39 GNAS NM_000516.5(GNAS): c.34C> T (p.Gln12Ter) single nucleotide variant Pathogenic rs797045046 GRCh37 Chromosome 20, 57466815: 57466815

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 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
11.77 GH1 GNAS IGF1 PRL
6 11.22 GH1 IGF1
7 11.15 GNAS IGF1
8 11.02 GH1 GNAS IGF1
9 11.01 GNAS IGF1
10
Show member pathways
10.87 GH1 PRL
11 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 9.16 PRL 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 14)
# Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.54 PRL TRH
2 response to estradiol GO:0032355 9.52 GH1 PRL
3 female pregnancy GO:0007565 9.51 GNAS PRL
4 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.49 GH1 IGF1
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.48 GH1 IGF1
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.46 GH1 IGF1
7 positive regulation of epithelial cell proliferation GO:0050679 9.43 IGF1 PRL
8 positive regulation of osteoblast differentiation GO:0045669 9.4 GNAS IGF1
9 response to nutrient levels GO:0031667 9.37 GH1 PRL
10 regulation of multicellular organism growth GO:0040014 9.32 IGF1 PRL
11 positive regulation of JAK-STAT cascade GO:0046427 9.26 GH1 PRL
12 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.16 GH1 PRL
13 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.96 GH1 IGF1
14 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 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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