PHP1B
MCID: PSD066
MIFTS: 52

Pseudohypoparathyroidism, Type Ib (PHP1B)

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 Ib

MalaCards integrated aliases for Pseudohypoparathyroidism, Type Ib:

Name: Pseudohypoparathyroidism, Type Ib 57 54 39 70
Pseudohypoparathyroidism Type 1b 20 58 29 6 44 70
Php1b 57 20 72
Pseudohypoparathyroidism Type Ib 12 15
Pseudohypoparathyroidism Ib 57 13
Pseudohypoparathyroidism 1b 72
Php Ib 57

Characteristics:

Orphanet epidemiological data:

58
pseudohypoparathyroidism type 1b
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Childhood,Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
many cases result from de novo mutations
endocrine abnormalities confined to kidney
typically no physical features of albright hereditary osteodystrophy (aho)
features of aho may rarely be observed, including brachydactyly, short metacarpals, and obesity (see )
associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, )
see also pseudohypoparathyroidism type ia (php1a, )


HPO:

31
pseudohypoparathyroidism, type ib:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare renal diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Pseudohypoparathyroidism, Type Ib

GARD : 20 Pseudohypoparathyroidism type 1B (PHP1B) is a disorder characterized by lack of response (resistance) to parathyroid hormone (PTH) and other hormones such as thyroid-stimulating hormone (TSH). Resistance mainly occurs in the kidneys, causing low blood calcium levels (hypocalcemia), high blood phosphate levels (hyperphosphatemia), and elevated PTH levels (hyperparathyroidism). Some people with PHP1B also have elevated TSH levels due to TSH resistance. Each of these abnormalities can cause a variety of symptoms, which can be viewed by clicking on the terms above. Severity can vary considerably, even among people in the same family. Symptoms usually begin in childhood due to low calcium levels and may include numbness, seizures, tetany, cataracts, and dental problems. Excessive growth or weight has been described in some newborns or during early infancy and childhood. Some children have skeletal problems, such as reduced bone mineral density and osteitis fibrosa. The inheritance and genetics of PHP1B is complex. PHP1B is usually sporadic (not inherited ), but familial cases with autosomal dominant inheritance, from the mother only, have been reported. When the parent from which a gene is inherited affects the way a gene acts, it is called genomic imprinting. PHP1B may be caused by randomly inheriting both copies of the long arm of chromosome 20 from the father rather than a copy from each parent (paternal 20q disomy), genetic mutations or epigenetic changes involving the GNAS or STX16 gene, or by unidentified genetic or epigenetic factors. Treatment is lifelong, aiming to normalize calcium and PTH levels with active vitamin D metabolites such as alfacalcidol or calcitriol, and calcium supplementation.

MalaCards based summary : Pseudohypoparathyroidism, Type Ib, also known as pseudohypoparathyroidism type 1b, is related to hyperphosphatemia and disorders of gnas inactivation. An important gene associated with Pseudohypoparathyroidism, Type Ib is STX16 (Syntaxin 16), and among its related pathways/superpathways are Presynaptic function of Kainate receptors and G alpha (s) signalling events. Affiliated tissues include kidney, bone and thyroid, and related phenotypes are pseudohypoparathyroidism and hyperphosphatemia

Disease Ontology : 12 A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has material basis in mutations that alter the methylation pattern of GNAS on 20q13.32.

OMIM® : 57 Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by resistance to parathyroid hormone (PTH; 168450). Pseudohypoparathyroidism type Ib is characterized clinically by isolated renal PTH resistance manifest as hypocalcemia, hyperphosphatemia, and increased serum PTH. Biochemical studies show a decreased response of urinary cAMP to exogenous PTH, but normal Gs activity in erythrocytes because the defect is restricted to renal tubule cells. In contrast to the findings in PHP Ia, patients with PHP Ib usually lack the physical characteristics of Albright hereditary osteodystrophy (AHO) and typically show no other endocrine abnormalities, although resistance to thyroid-stimulating hormone (TSH; 188540) has been reported in PHP Ib (Levine et al., 1983, Heinsimer et al., 1984). However, patients with PHP Ib may rarely show some features of AHO (Mariot et al., 2008). For a general phenotypic description, classification, and a discussion of molecular genetics of pseudohypoparathyroidism, see PHP1A (103580). (603233) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Pseudohypoparathyroidism 1B: A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH.

Related Diseases for Pseudohypoparathyroidism, Type Ib

Diseases in the Pseudohypoparathyroidism family:

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

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

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 hyperphosphatemia 31.3 STX16 PTH GNAS BGLAP
2 disorders of gnas inactivation 31.2 STX16 GNAS-AS1 GNAS
3 pseudohypoparathyroidism 31.1 STX16 PTHLH PTH1R PTH GNAS-AS1 GNAS
4 hyperparathyroidism 30.6 PTHLH PTH BGLAP
5 pseudohypoparathyroidism, type ia 30.5 STX16 PTHLH PTH1R PTH GNAS-AS1 GNAS
6 rickets 30.5 SLC34A3 PTH BGLAP
7 hypoparathyroidism 30.4 PTHLH PTH1R PTH GNAS BGLAP
8 hypothyroidism 30.4 GNAS GHRH CGA BGLAP
9 secondary hyperparathyroidism 30.3 PTH1R PTH BGLAP
10 mccune-albright syndrome 30.3 PTHLH GNAS BGLAP
11 hypocalcemia, autosomal dominant 1 30.2 PTHLH PTH GNAS BGLAP
12 brachydactyly 30.2 STX16 PTHLH PTH GNAS
13 acrodysostosis 30.1 STX16 PTHLH PTH1R PTH GNAS
14 osteogenic sarcoma 30.1 PTHLH PTH1R PTH BGLAP
15 hypothyroidism, congenital, nongoitrous, 1 30.0 STX16 PTH GNAS-AS1 GNAS GHRH
16 osseous heteroplasia, progressive 29.9 STX16 PTHLH PTH GNAS-AS1 GNAS BGLAP
17 primary hyperparathyroidism 29.9 PTHLH PTH1R PTH GHRH BGLAP
18 bone disease 29.9 SLC34A3 PTHLH PTH1R PTH BGLAP
19 pseudopseudohypoparathyroidism 29.9 STX16 PTHLH PTH GNAS-AS1 GNAS GHRH
20 beckwith-wiedemann syndrome 28.7 ZFP57 NLRP7 NLRP5 NLRP2 MEST KHDC3L
21 pediatric ovarian germ cell tumor 10.3 PTHLH PTH
22 malignant ovarian brenner tumor 10.3 PTHLH PTH
23 pediatric ovarian dysgerminoma 10.3 PTHLH PTH
24 oncogenic osteomalacia 10.3 PTHLH PTH
25 sclerosing hepatic carcinoma 10.3 PTHLH PTH
26 invasive malignant thymoma 10.3 PTHLH PTH
27 substernal goiter 10.3 PTH NLRP5
28 vitamin d-dependent rickets 10.3 PTH BGLAP
29 multiple enchondromatosis, maffucci type 10.3 PTHLH PTH1R GNAS
30 metal metabolism disorder 10.3 STX16 PTH GNAS
31 hormone producing pituitary cancer 10.3 GNAS GHRH
32 chondromyxoid fibroma 10.3 PTHLH PTH1R
33 eiken syndrome 10.3 PTHLH PTH1R PTH
34 hypercalcemia, infantile, 1 10.2 PTHLH PTH1R PTH
35 osteitis fibrosa 10.2 PTH GNAS BGLAP
36 bone benign neoplasm 10.2 PTH GNAS BGLAP
37 hypertension and brachydactyly syndrome 10.2 PTHLH PTH1R
38 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.2 SLC34A3 PTH
39 nontoxic goiter 10.2 PTH BGLAP
40 van buchem disease 10.2 PTH1R PTH BGLAP
41 dental abscess 10.2 SLC34A3 PTH
42 ischemic bone disease 10.2 PTHLH PTH BGLAP
43 hypophosphatemic rickets with hypercalciuria, hereditary 10.2 SLC34A3 PTH
44 seizure disorder 10.2
45 paget's disease of bone 10.2 PTHLH PTH BGLAP
46 pituitary gland disease 10.2 GNAS GHRH CGA
47 tooth resorption 10.2 PTH BGLAP
48 fibrous dysplasia 10.2 GNAS GHRH BGLAP
49 partial hydatidiform mole 10.2 NLRP7 KHDC3L
50 hyperpituitarism 10.2 GNAS GHRH

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



Diseases related to Pseudohypoparathyroidism, Type Ib

Symptoms & Phenotypes for Pseudohypoparathyroidism, Type Ib

Human phenotypes related to Pseudohypoparathyroidism, Type Ib:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pseudohypoparathyroidism 58 31 obligate (100%) Obligate (100%) HP:0000852
2 hyperphosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002905
3 elevated circulating parathyroid hormone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003165
4 low urinary cyclic amp response to pth administration 58 31 hallmark (90%) Very frequent (99-80%) HP:0003456
5 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
6 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
7 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
8 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
10 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
11 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
12 round face 58 31 frequent (33%) Frequent (79-30%) HP:0000311
13 hypoplasia of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0006297
14 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
15 dyskinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100660
16 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
17 prolonged qt interval 58 31 occasional (7.5%) Occasional (29-5%) HP:0001657
18 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
19 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
20 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
21 chest pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0100749
22 conjunctivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000509
23 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
24 muscle spasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0003394
25 hypocalcemic tetany 58 31 occasional (7.5%) Occasional (29-5%) HP:0003472
26 myoclonic spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0003739
27 abdominal symptom 58 31 occasional (7.5%) Occasional (29-5%) HP:0011458
28 laryngeal dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012049
29 diaphyseal sclerosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003034
30 cortical subperiosteal resorption of humeral metaphyses 58 31 occasional (7.5%) Occasional (29-5%) HP:0003909
31 increased bone density with cystic changes 58 31 occasional (7.5%) Occasional (29-5%) HP:0005700
32 obesity 31 occasional (7.5%) HP:0001513
33 brachydactyly 31 occasional (7.5%) HP:0001156
34 short metacarpal 31 occasional (7.5%) HP:0010049
35 hypocalcemic seizures 58 31 very rare (1%) Very rare (<4-1%) HP:0002199
36 pituitary resistance to thyroid hormone 58 31 very rare (1%) Very rare (<4-1%) HP:0008227
37 decreased response to growth hormone stimuation test 31 very rare (1%) HP:0000824
38 hypocalcemia 58 31 Very frequent (99-80%) HP:0002901
39 increased bone mineral density 58 Occasional (29-5%)
40 growth hormone deficiency 58 Very rare (<4-1%)
41 ectopic calcification 58 Excluded (0%)
42 calcinosis 58 Excluded (0%)
43 autoimmune antibody positivity 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
hypocalcemia
hyperphosphatemia
low urinary cyclic amp response to pth administration
elevated serum pth
normal erythrocyte gs activity

Skeletal:
osteitis fibrosa cystica due to elevated parathyroid hormone (pth) (subset of patients)

Endocrine Features:
pseudohypoparathyroidism
renal resistance to pth

Clinical features from OMIM®:

603233 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Pseudohypoparathyroidism, Type Ib:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.36 BGLAP GHRH GNAS MEST PDS5B PTH

Drugs & Therapeutics for Pseudohypoparathyroidism, Type Ib

Search Clinical Trials , NIH Clinical Center for Pseudohypoparathyroidism, Type Ib

Cochrane evidence based reviews: pseudohypoparathyroidism type 1b

Genetic Tests for Pseudohypoparathyroidism, Type Ib

Genetic tests related to Pseudohypoparathyroidism, Type Ib:

# Genetic test Affiliating Genes
1 Pseudohypoparathyroidism Type 1b 29 GNAS GNAS-AS1 STX16

Anatomical Context for Pseudohypoparathyroidism, Type Ib

MalaCards organs/tissues related to Pseudohypoparathyroidism, Type Ib:

40
Kidney, Bone, Thyroid, Pituitary, Skin, Brain, Cortex

Publications for Pseudohypoparathyroidism, Type Ib

Articles related to Pseudohypoparathyroidism, Type Ib:

(show top 50) (show all 146)
# Title Authors PMID Year
1
A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. 54 6 57 61
15800843 2005
2
Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib. 57 6 61 54
11029463 2001
3
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. 61 6 57
15592469 2005
4
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. 57 6 61
14561710 2003
5
A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance. 6 57
18182455 2008
6
Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. 54 57 61
15537666 2005
7
Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism. 54 61 57
11294659 2001
8
Cloning and characterization of the promoter regions of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene: analysis of deoxyribonucleic acid from normal subjects and patients with pseudohypoparathyroidism type 1b. 57 54 61
9100569 1997
9
Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib. 57 54 61
8675577 1996
10
Expression and modulation of the parathyroid hormone (PTH)/PTH-related peptide receptor messenger ribonucleic acid in skin fibroblasts from patients with type Ib pseudohypoparathyroidism. 54 61 57
7883858 1995
11
Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. 61 57
17595244 2007
12
Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance. 6 61
15579741 2004
13
The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. 54 57
12970307 2003
14
Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1. 57 61
12858292 2003
15
Galphas transcripts are biallelically expressed in the human kidney cortex: implications for pseudohypoparathyroidism type 1b. 57 61
11600515 2001
16
Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus. 57 61
11406605 2001
17
A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. 57 61
11067869 2000
18
Pseudohypoparathyroidism 1b: exclusion of parathyroid hormone and its receptors as candidate disease genes. 57 54
10852457 2000
19
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. 61 57
9751745 1998
20
Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. 61 57
7745008 1995
21
Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development. 6
23884777 2013
22
Albright hereditary osteodystrophy: report of a particular clinical phenotype caused by a novel GNAS mutation. 6
20015054 2010
23
Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans. 6
20427508 2010
24
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects. 57
19858129 2010
25
The GNAS locus and pseudohypoparathyroidism. 57
18372789 2008
26
Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. 57
17405843 2007
27
Mutations in the Gs alpha gene causing hormone resistance. 57
17161328 2006
28
GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. 57
11788646 2002
29
XL alpha s is a new type of G protein. 57
7997272 1994
30
Impaired formation of beta-adrenergic receptor-nucleotide regulatory protein complexes in pseudohypoparathyroidism. 57
6325502 1984
31
Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. 57
6301273 1983
32
Deficient activity of receptor-cyclase coupling protein in platelets of patients with pseudohypoparathyroidism. 57
6252235 1980
33
Skeletal responsiveness in pseudohypoparathyroidism. A spectrum of clinical disease. 57
6246800 1980
34
Renal resistance to parathyroid hormone with osteitis fibrosa: "pseudohypohyperparathyroidism". 57
5011390 1972
35
PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib. 54 61
18617581 2008
36
[Pseudohypoparathyroidism type I b and genomic imprinting]. 61 54
17660619 2007
37
Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16. 61 54
17317779 2007
38
Completely skewed X-inactivation in a mentally retarded young female with pseudohypoparathyroidism type IB and juvenile renin-dependent hypertension. 61 54
12843141 2003
39
Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets. 61 54
12374764 2002
40
Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. 54 61
11588148 2001
41
Cloning and characterization of kidney-specific promoter of human PTH/PTHrP receptor gene: absence of mutation in patients with pseudohypoparathyroidism type Ib. 54 61
9723884 1998
42
Receptors for parathyroid hormone and parathyroid hormone-related peptide: from molecular cloning to definition of diseases. 54 61
8823526 1996
43
SNAREs and developmental disorders. 61
32959907 2021
44
A Novel GNAS Duplication Associated With Loss-of-Methylation Restricted to Exon A/B Causes Pseudohypoparathyroidism Type Ib (PHP1B). 61
33180333 2021
45
Intracranial calcifications in pseudohypoparathyroidism type 1b: Report of four cases. 61
33771503 2021
46
A novel familial PHP1B variant with incomplete loss-of-methylation at GNAS-A/B and enhanced methylation at GNAS-AS2. 61
33677588 2021
47
Genetic and Epigenetic Characteristics of Autosomal Dominant Pseudohypoparathyroidism Type 1B: Case Reports and Literature Review. 61
33513624 2021
48
Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome. 61
33513760 2021
49
An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature. 61
33320452 2020
50
Preferential Maternal Transmission of STX16-GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion. 61
33247854 2020

Variations for Pseudohypoparathyroidism, Type Ib

ClinVar genetic disease variations for Pseudohypoparathyroidism, Type Ib:

6 (show top 50) (show all 140)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNAS-AS1 GNASAS, 4.7-KB DEL Deletion Pathogenic 1212 GRCh37:
GRCh38:
2 STX16 STX16, 3-KB TO 4.4-KB MICRODELETION Deletion Pathogenic 6149 GRCh37:
GRCh38:
3 GNAS GNAS, 4.7-KB DEL Deletion Pathogenic 15954 GRCh37:
GRCh38:
4 GNAS GNAS, 3-BP DEL, CAT, EXON 13 Deletion Pathogenic 15956 GRCh37:
GRCh38:
5 GNAS GNAS, METHYLATION CHANGES, PATERNAL EPIGENOTYPE Variation Pathogenic 15960 GRCh37:
GRCh38:
6 STX16 GRCh37/hg19 20q13.32(chr20:57244540-57246216) copy number loss Pathogenic 625617 GRCh37: 20:57244540-57246216
GRCh38:
7 GNAS NM_001077488.4(GNAS):c.139+1G>C SNV Pathogenic 873534 GRCh37: 20:57466921-57466921
GRCh38: 20:58891866-58891866
8 GNAS NM_000516.7(GNAS):c.296del (p.Leu99fs) Deletion Pathogenic 930857 GRCh37: 20:57478624-57478624
GRCh38: 20:58903569-58903569
9 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.393+557_792+364del Deletion Pathogenic 978043 GRCh37: 20:57243567-57246544
GRCh38: 20:58668511-58671488
10 GNAS NM_000516.6(GNAS):c.1A>G (p.Met1Val) SNV Pathogenic 15927 rs137854530 GRCh37: 20:57466782-57466782
GRCh38: 20:58891727-58891727
11 GNAS NM_000516.6(GNAS):c.85C>T (p.Gln29Ter) SNV Pathogenic 374113 rs1057518907 GRCh37: 20:57466866-57466866
GRCh38: 20:58891811-58891811
12 GNAS NM_000516.5:c.(?_-424)_(257_?)dup Duplication Pathogenic 987921 GRCh37:
GRCh38:
13 GNAS NM_000516.6(GNAS):c.85C>T (p.Gln29Ter) SNV Pathogenic 374113 rs1057518907 GRCh37: 20:57466866-57466866
GRCh38: 20:58891811-58891811
14 GNAS NM_016592.4(GNAS):c.*471_*474del Deletion Pathogenic 15938 rs587776829 GRCh37: 20:57484249-57484252
GRCh38: 20:58909194-58909197
15 GNAS-AS1 , GNAS NM_016592.5(GNAS):c.362C>T (p.Ser121Phe) SNV Uncertain significance 931706 GRCh37: 20:57415523-57415523
GRCh38: 20:58840468-58840468
16 GNAS NM_001077490.3(GNAS):c.818G>T (p.Arg273Leu) SNV Uncertain significance 982908 GRCh37: 20:57429325-57429325
GRCh38: 20:58854270-58854270
17 GNAS NM_016592.4(GNAS):c.*936_*938dup Duplication Uncertain significance 619213 rs1569031518 GRCh37: 20:57485447-57485448
GRCh38: 20:58910392-58910393
18 GNAS NM_080425.3(GNAS):c.2146G>A (p.Gly716Ser) SNV Uncertain significance 134473 rs587778380 GRCh37: 20:57474000-57474000
GRCh38: 20:58898945-58898945
19 GNAS NM_080425.3(GNAS):c.1200C>A (p.Ala400=) SNV Uncertain significance 417934 rs908810796 GRCh37: 20:57429520-57429520
GRCh38: 20:58854465-58854465
20 GNAS NM_080425.4(GNAS):c.1455C>A (p.Ala485=) SNV Uncertain significance 417936 rs55890501 GRCh37: 20:57429775-57429775
GRCh38: 20:58854720-58854720
21 GNAS NM_001077490.2(GNAS):c.1136C>T (p.Pro379Leu) SNV Uncertain significance 930718 GRCh37: 20:57429643-57429643
GRCh38: 20:58854588-58854588
22 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*3053C>T SNV Uncertain significance 898656 GRCh37: 20:57254400-57254400
GRCh38: 20:58679344-58679344
23 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*3092A>C SNV Uncertain significance 898657 GRCh37: 20:57254439-57254439
GRCh38: 20:58679383-58679383
24 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*1764C>T SNV Uncertain significance 339080 rs886056859 GRCh37: 20:57253111-57253111
GRCh38: 20:58678055-58678055
25 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*217G>A SNV Uncertain significance 897374 GRCh37: 20:57251564-57251564
GRCh38: 20:58676508-58676508
26 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*558T>C SNV Uncertain significance 898530 GRCh37: 20:57251905-57251905
GRCh38: 20:58676849-58676849
27 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*648A>C SNV Uncertain significance 898531 GRCh37: 20:57251995-57251995
GRCh38: 20:58676939-58676939
28 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*1156G>C SNV Uncertain significance 898532 GRCh37: 20:57252503-57252503
GRCh38: 20:58677447-58677447
29 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*1957T>C SNV Uncertain significance 898601 GRCh37: 20:57253304-57253304
GRCh38: 20:58678248-58678248
30 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.484G>T (p.Val162Leu) SNV Uncertain significance 895470 GRCh37: 20:57244437-57244437
GRCh38: 20:58669381-58669381
31 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.593T>C (p.Phe198Ser) SNV Uncertain significance 895471 GRCh37: 20:57245604-57245604
GRCh38: 20:58670548-58670548
32 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.-409G>A SNV Uncertain significance 339037 rs886056844 GRCh37: 20:57226654-57226654
GRCh38: 20:58651598-58651598
33 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*1186C>T SNV Uncertain significance 895541 GRCh37: 20:57252533-57252533
GRCh38: 20:58677477-58677477
34 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*1195A>G SNV Uncertain significance 895542 GRCh37: 20:57252542-57252542
GRCh38: 20:58677486-58677486
35 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*1223A>G SNV Uncertain significance 895543 GRCh37: 20:57252570-57252570
GRCh38: 20:58677514-58677514
36 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*1312A>T SNV Uncertain significance 895544 GRCh37: 20:57252659-57252659
GRCh38: 20:58677603-58677603
37 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*2095C>T SNV Uncertain significance 895615 GRCh37: 20:57253442-57253442
GRCh38: 20:58678386-58678386
38 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*2138G>A SNV Uncertain significance 895616 GRCh37: 20:57253485-57253485
GRCh38: 20:58678429-58678429
39 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*2152G>A SNV Uncertain significance 895617 GRCh37: 20:57253499-57253499
GRCh38: 20:58678443-58678443
40 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.-621G>A SNV Uncertain significance 896804 GRCh37: 20:57226442-57226442
GRCh38: 20:58651386-58651386
41 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.-494G>A SNV Uncertain significance 896805 GRCh37: 20:57226569-57226569
GRCh38: 20:58651513-58651513
42 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.781A>C (p.Ile261Leu) SNV Uncertain significance 896874 GRCh37: 20:57246342-57246342
GRCh38: 20:58671286-58671286
43 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.875C>T (p.Ala292Val) SNV Uncertain significance 896875 GRCh37: 20:57251244-57251244
GRCh38: 20:58676188-58676188
44 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*1565C>G SNV Uncertain significance 896944 GRCh37: 20:57252912-57252912
GRCh38: 20:58677856-58677856
45 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*1676T>A SNV Uncertain significance 896945 GRCh37: 20:57253023-57253023
GRCh38: 20:58677967-58677967
46 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*2276G>C SNV Uncertain significance 897022 GRCh37: 20:57253623-57253623
GRCh38: 20:58678567-58678567
47 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*2377G>T SNV Uncertain significance 897023 GRCh37: 20:57253724-57253724
GRCh38: 20:58678668-58678668
48 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*1896G>A SNV Uncertain significance 897435 GRCh37: 20:57253243-57253243
GRCh38: 20:58678187-58678187
49 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*2555C>G SNV Uncertain significance 897496 GRCh37: 20:57253902-57253902
GRCh38: 20:58678846-58678846
50 STX16-NPEPL1 , STX16 NM_001001433.3(STX16):c.*2558T>C SNV Uncertain significance 897497 GRCh37: 20:57253905-57253905
GRCh38: 20:58678849-58678849

Copy number variations for Pseudohypoparathyroidism, Type Ib from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 155272 20 54400000 62435964 Microdeletion GNAS Pseudohypoparathyroidism type Ib
2 155273 20 54400000 62435964 Microdeletion STX16 Pseudohypoparathyroidism type Ib
3 155541 20 56655000 56925000 Microdeletion GNAS Pseudohypoparathyroidism type Ib
4 155542 20 56655000 56925000 Microdeletion STX16 Pseudohypoparathyroidism type Ib
5 155543 20 56655000 56925000 Microdeletion STX16 Pseudohypoparathyroidism type Ib
6 155547 20 56659733 56687988 Deletion STX16 Pseudohypoparathyroidism type Ib
7 155583 20 56848189 56919645 Deletion GNAS Pseudohypoparathyroidism type Ib
8 155584 20 56848189 56919645 Deletion GNAS Pseudohypoparathyroidism type Ib

Expression for Pseudohypoparathyroidism, Type Ib

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

Pathways for Pseudohypoparathyroidism, Type Ib

GO Terms for Pseudohypoparathyroidism, Type Ib

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

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.92 TRPV5 SLC34A3 PTH1R GNAS

Biological processes related to Pseudohypoparathyroidism, Type Ib 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 9.95 PTHLH PTH1R PTH GNAS GHRH CHML
2 bone mineralization GO:0030282 9.5 PTHLH PTH1R BGLAP
3 bone resorption GO:0045453 9.49 PTH1R PTH
4 negative regulation of chondrocyte differentiation GO:0032331 9.48 PTHLH PTH
5 response to vitamin D GO:0033280 9.46 PTH BGLAP
6 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.43 PTH1R PTH
7 response to parathyroid hormone GO:0071107 9.37 PTH GNAS
8 skeletal system development GO:0001501 9.35 PTHLH PTH1R PTH GNAS BGLAP
9 osteoblast development GO:0002076 9.33 PTHLH PTH1R BGLAP
10 cAMP metabolic process GO:0046058 9.26 PTHLH PTH
11 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.02 PTHLH PTH1R PTH GNAS GHRH

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.26 PTHLH PTH GHRH CGA
2 peptide hormone receptor binding GO:0051428 8.8 PTHLH PTH GHRH

Sources for Pseudohypoparathyroidism, Type Ib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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