PHP1B
MCID: PSD066
MIFTS: 51

Pseudohypoparathyroidism, Type Ib (PHP1B) malady

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

Aliases & Classifications for Pseudohypoparathyroidism, Type Ib

Aliases & Descriptions for Pseudohypoparathyroidism, Type Ib:

Name: Pseudohypoparathyroidism, Type Ib 54 52 69
Pseudohypoparathyroidism Type 1b 50 56 69
Pseudohypoparathyroidism Ib 54 24 13
Php1b 50 24 66
Pseudohypoparathyroidism 1b 66 29
Pseudohypoparathyroidism Type Ib 24
Php 1b 24

Characteristics:

Orphanet epidemiological data:

56
pseudohypoparathyroidism type 1b
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Childhood,Infancy,Neonatal;

HPO:

32
pseudohypoparathyroidism, type ib:
Inheritance autosomal dominant inheritance sporadic


Classifications:



External Ids:

OMIM 54 603233
Orphanet 56 ORPHA94089
MESH via Orphanet 43 C548075
ICD10 via Orphanet 34 E20.1
UMLS via Orphanet 70 C2932715
MedGen 40 C1864100
MeSH 42 D011547

Summaries for Pseudohypoparathyroidism, Type Ib

OMIM : 54 Pseudohypoparathyroidism refers to a heterogeneous group of disorders characterized by resistance to parathyroid... (603233) more...

MalaCards based summary : Pseudohypoparathyroidism, Type Ib, also known as pseudohypoparathyroidism type 1b, is related to pseudohypoparathyroidism and inclusion-cell disease, and has symptoms including dyspnea, chest pain and abdominal symptom. An important gene associated with Pseudohypoparathyroidism, Type Ib is STX16 (Syntaxin 16), and among its related pathways/superpathways are Peptide ligand-binding receptors and Presynaptic function of Kainate receptors. Affiliated tissues include thyroid, bone and kidney, and related phenotypes are craniofacial and limbs/digits/tail

NIH Rare Diseases : 50 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, high blood phosphate levels, and elevated pth levels. the majority of people with php1b also have elevated tsh levels due to tsh resistance. severity can vary considerably, even among affected people in the same family. symptoms usually begin in childhood due to low calcium levels and include numbness, seizures, tetany, cataracts, and dental problems. some children have skeletal problems, such as reduced bone mineral density and osteitis fibrosa. php1b is usually sporadic (not inherited), but familial cases with autosomal dominant inheritance have been reported. treatment is lifelong, aiming to normalize calcium and pth levels with active vitamin d metabolites (alfacalcidol or calcitriol) and calcium supplementation. last updated: 9/22/2016

UniProtKB/Swiss-Prot : 66 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 Ia Pseudohypoparathyroidism Ic
Pseudohypoparathyroidism, Type Ib Pseudohypoparathyroidism, Type Ii

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

(show top 50) (show all 65)
id Related Disease Score Top Affiliating Genes
1 pseudohypoparathyroidism 10.6
2 inclusion-cell disease 10.2 GNAS STX16
3 acth-independent macronodular adrenal hyperplasia 10.1 BGLAP GNAS
4 ovarian insufficiency due to fsh resistance 10.1 BGLAP GNAS
5 eiken syndrome 10.1 PTH PTH1R
6 hypochondrogenesis 10.1 BGLAP PTH
7 y chromosome detection 10.1 BGLAP PTH
8 axial osteomalacia 10.1 BGLAP GNAS
9 adult ependymoblastoma 10.1 BGLAP PTH
10 hypophosphatasia, adult 10.1 BGLAP PTH
11 pharyngitis 10.1 BGLAP PTH1R
12 prediabetes syndrome 10.1 BGLAP PTH
13 13q12.3 microdeletion syndrome 10.0 PTH1R PTHLH
14 acrorenal syndrome 10.0 BGLAP PTH
15 pes anserinus tendinitis or bursitis 10.0 BGLAP PTH
16 tinea unguium 10.0 BGLAP PTH
17 binocular vision disease 10.0 PTH1R PTHLH
18 chromosomal disease 10.0 BGLAP PTH
19 gastric antral vascular ectasia 10.0 GNAS PTH STX16
20 conventional central osteosarcoma 10.0 GNAS PTHLH
21 weill-marchesani syndrome 10.0 GNAS PTH STX16
22 esophageal leukoplakia 10.0 GNAS PTH STX16
23 transverse colon cancer 10.0 PTH1R PTHLH
24 pterygium, antecubital 10.0 PTH1R PTHLH
25 primary release disorder of platelets 10.0 BGLAP PTHLH
26 maroteaux stanescu cousin syndrome 10.0 BGLAP PTHLH
27 metachronous osteosarcoma of the bone 10.0 GNAS PTHLH
28 glomangiomyoma 10.0 BGLAP CGA GNAS
29 opportunistic bacterial infectious disease 10.0 BGLAP PTH
30 malignant granular cell myoblastoma 10.0 PTH PTHLH
31 macrosomia with microphthalmia, lethal 10.0 PTH1R PTHLH
32 mixed germ cell cancer 9.9 PTH PTHLH
33 mesenchymal cell neoplasm 9.9 BGLAP GNAS PTH
34 opthalmoplegia mental retardation lingua scrotalis 9.9 PTH PTHLH
35 strabismus 9.9 PTH PTHLH
36 slti salem syndrome 9.9 PTH1R PTHLH
37 impotence 9.9 PTH PTHLH
38 pancreas adenocarcinoma 9.9 BGLAP PTH
39 ovarian endometrioid cystadenoma 9.9 PTH PTHLH
40 cowper gland carcinoma 9.9 PTH PTHLH
41 dysbaric osteonecrosis 9.9 BGLAP PTH
42 pseudohypoparathyroidism ic 9.9 GNAS GNAS-AS1 PTH STX16
43 malignant adult ependymoma 9.8 BGLAP PTH1R PTHLH
44 vulvovaginitis 9.8 BGLAP PTH1R PTHLH
45 beckwith-wiedemann syndrome 9.8
46 albright's hereditary osteodystrophy 9.8
47 hyperparathyroidism 9.8
48 klinefelter's syndrome 9.8
49 growth hormone deficiency 9.8
50 indian tick typhus 9.8 PTH PTHLH

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



Diseases related to Pseudohypoparathyroidism, Type Ib

Symptoms & Phenotypes for Pseudohypoparathyroidism, Type Ib

Symptoms by clinical synopsis from OMIM:

603233

Clinical features from OMIM:

603233

Human phenotypes related to Pseudohypoparathyroidism, Type Ib:

56 32 (show all 42)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dyspnea 56 32 Occasional (29-5%) HP:0002094
2 chest pain 56 32 Occasional (29-5%) HP:0100749
3 abdominal symptom 56 32 Occasional (29-5%) HP:0011458
4 short neck 56 32 Frequent (79-30%) HP:0000470
5 nystagmus 56 32 Frequent (79-30%) HP:0000639
6 depression 56 32 Occasional (29-5%) HP:0000716
7 cataract 56 32 Frequent (79-30%) HP:0000518
8 depressed nasal bridge 56 32 Frequent (79-30%) HP:0005280
9 dyskinesia 56 32 Occasional (29-5%) HP:0100660
10 short stature 56 32 Frequent (79-30%) HP:0004322
11 full cheeks 56 32 Frequent (79-30%) HP:0000293
12 irritability 56 32 Occasional (29-5%) HP:0000737
13 delayed eruption of teeth 56 32 Frequent (79-30%) HP:0000684
14 anxiety 56 32 Occasional (29-5%) HP:0000739
15 prolonged qt interval 56 32 Occasional (29-5%) HP:0001657
16 paresthesia 56 32 Occasional (29-5%) HP:0003401
17 muscle cramps 56 32 Occasional (29-5%) HP:0003394
18 round face 56 32 Frequent (79-30%) HP:0000311
19 hypocalcemia 56 32 Very frequent (99-80%) HP:0002901
20 elevated circulating parathyroid hormone level 56 32 Very frequent (99-80%) HP:0003165
21 conjunctivitis 56 32 Occasional (29-5%) HP:0000509
22 hyporeflexia 56 32 Occasional (29-5%) HP:0001265
23 growth hormone deficiency 56 32 Very rare (<4-1%) HP:0000824
24 hypoplasia of dental enamel 56 32 Frequent (79-30%) HP:0006297
25 hyperphosphatemia 56 32 Very frequent (99-80%) HP:0002905
26 hypocalcemic seizures 56 32 Very rare (<4-1%) HP:0002199
27 hypocalcemic tetany 56 32 Occasional (29-5%) HP:0003472
28 pseudohypoparathyroidism 56 32 Obligate (100%) HP:0000852
29 low urinary cyclic amp response to pth administration 56 32 Very frequent (99-80%) HP:0003456
30 myoclonic spasms 56 32 Occasional (29-5%) HP:0003739
31 laryngeal dystonia 56 32 Occasional (29-5%) HP:0012049
32 pituitary resistance to thyroid hormone 56 32 Very rare (<4-1%) HP:0008227
33 diaphyseal sclerosis 56 32 Occasional (29-5%) HP:0003034
34 cortical subperiosteal resorption of humeral metaphyses 56 32 Occasional (29-5%) HP:0003909
35 increased bone density with cystic changes 56 32 Occasional (29-5%) HP:0005700
36 obesity 32 HP:0001513
37 brachydactyly syndrome 32 HP:0001156
38 increased bone mineral density 56 Occasional (29-5%)
39 short metacarpal 32 HP:0010049
40 autoimmune antibody positivity 56 Excluded (0%)
41 ectopic calcification 56 Excluded (0%)
42 calcinosis 56 Excluded (0%)

MGI Mouse Phenotypes related to Pseudohypoparathyroidism, Type Ib:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.26 GNAS PTH PTH1R PTHLH
2 limbs/digits/tail MP:0005371 8.92 GNAS PTH PTH1R PTHLH

Drugs & Therapeutics for Pseudohypoparathyroidism, Type Ib

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

Genetic Tests for Pseudohypoparathyroidism, Type Ib

Genetic tests related to Pseudohypoparathyroidism, Type Ib:

id Genetic test Affiliating Genes
1 Pseudohypoparathyroidism Type 1b 29
2 Pseudohypoparathyroidism Ib 24 GNAS
3 Pseudohypoparathyroidism Type Ib 24 STX16

Anatomical Context for Pseudohypoparathyroidism, Type Ib

MalaCards organs/tissues related to Pseudohypoparathyroidism, Type Ib:

39
Thyroid, Bone, Kidney, Pituitary, Testes, Skin

Publications for Pseudohypoparathyroidism, Type Ib

Articles related to Pseudohypoparathyroidism, Type Ib:

(show all 44)
id Title Authors Year
1
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding GsI+ Is Associated with Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B). ( 28084650 )
2017
2
Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon? ( 27121328 )
2016
3
Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B). ( 25997889 )
2015
4
Pseudohypoparathyroidism type Ib in 2015. ( 25910998 )
2015
5
Analysis of Multiple Families with Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion. ( 26479409 )
2015
6
Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. ( 25843330 )
2015
7
Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus. ( 25710380 )
2015
8
Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR. ( 24438374 )
2014
9
A 22-year-old woman with hypocalcemia and clinical features of albright hereditary osteodystrophy diagnosed with sporadic pseudohypoparathyroidism type Ib using a methylation-specific multiplex ligation-dependent probe amplification assay. ( 24785890 )
2014
10
TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib). ( 25403028 )
2014
11
Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay. ( 23132697 )
2013
12
Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification. ( 23095209 )
2013
13
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. ( 22378814 )
2012
14
De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases. ( 23087324 )
2012
15
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib. ( 20972248 )
2011
16
Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib. ( 20538864 )
2010
17
The administration of an active vitamin D(3) analogue reduced the serum concentrations of 1-84 and truncated parathyroid hormone in pseudohypoparathyroidism type Ib patients. ( 20508384 )
2010
18
Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib. ( 20960161 )
2010
19
Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild Albright's hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid. ( 18626245 )
2008
20
PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib. ( 18617581 )
2008
21
Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16. ( 17317779 )
2007
22
Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. ( 17595244 )
2007
23
Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus. ( 17651445 )
2007
24
Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus. ( 16831926 )
2006
25
Klinefelter's syndrome with seizure, pseudohypoparathyroidism type Ib and multiple endocrine dysfunctions. ( 16379343 )
2005
26
Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. ( 15629959 )
2005
27
A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. ( 15800843 )
2005
28
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. ( 15592469 )
2005
29
Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. ( 15537666 )
2005
30
Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance. ( 15579741 )
2004
31
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. ( 14561710 )
2003
32
Completely skewed X-inactivation in a mentally retarded young female with pseudohypoparathyroidism type IB and juvenile renin-dependent hypertension. ( 12843141 )
2003
33
Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets. ( 12374764 )
2002
34
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. ( 11406605 )
2001
35
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. ( 11029463 )
2001
36
Serial changes in bone mineral density and bone turnover after correction of secondary hyperparathyroidism in a patient with pseudohypoparathyroidism type Ib. ( 10893692 )
2000
37
A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. ( 11067869 )
2000
38
Pseudohypohyperparathyroidism-pseudohypoparathyroidism type Ib. ( 10352113 )
1999
39
Cloning and characterization of kidney-specific promoter of human PTH/PTHrP receptor gene: absence of mutation in patients with pseudohypoparathyroidism type Ib. ( 9723884 )
1998
40
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. ( 9751745 )
1998
41
Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib. ( 8675577 )
1996
42
Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. ( 7745008 )
1995
43
[Rhabdomyolysis associated with pseudohypoparathyroidism type Ib--a case report]. ( 8334797 )
1993
44
Selective resistance to parathyroid hormone in cultured skin fibroblasts from patients with pseudohypoparathyroidism type Ib. ( 3005354 )
1986

Variations for Pseudohypoparathyroidism, Type Ib

ClinVar genetic disease variations for Pseudohypoparathyroidism, Type Ib:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GNAS-AS1 GNASAS, 4.7-KB DEL deletion Pathogenic
2 STX16 STX16, 3-KB TO 4.4-KB MICRODELETION deletion Pathogenic
3 GNAS GNAS, 4.7-KB DEL deletion Pathogenic
4 GNAS GNAS, 3-BP DEL, CAT, EXON 13 deletion Pathogenic
5 GNAS GNAS, METHYLATION CHANGES, PATERNAL EPIGENOTYPE undetermined variant Pathogenic

Copy number variations for Pseudohypoparathyroidism, Type Ib from CNVD:

7
id CNVD ID Chromosom 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

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

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 CGA GNAS PTH PTH1R PTHLH
2
Show member pathways
12.02 GNAS PTH PTH1R PTHLH
3 11.52 CGA GNAS PTH PTH1R PTHLH
4 11.36 PTH PTH1R PTHLH
5 11.33 CGA GNAS
6 11.21 CGA GNAS
7 11.13 CGA GNAS
8 11.11 BGLAP CGA PTH PTH1R
9 11.08 GNAS PTH1R
10 10.61 BGLAP GNAS PTH PTH1R PTHLH
11 10.58 BGLAP PTH PTH1R

GO Terms for Pseudohypoparathyroidism, Type Ib

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.71 BGLAP GNAS PTH
2 cell-cell signaling GO:0007267 9.7 CGA PTH PTHLH
3 response to nutrient levels GO:0031667 9.56 BGLAP PTH
4 bone development GO:0060348 9.55 BGLAP GNAS
5 bone mineralization GO:0030282 9.51 BGLAP PTH1R
6 developmental growth GO:0048589 9.49 CGA GNAS
7 bone resorption GO:0045453 9.48 PTH PTH1R
8 response to vitamin D GO:0033280 9.46 BGLAP PTH
9 negative regulation of chondrocyte differentiation GO:0032331 9.43 PTH PTHLH
10 positive regulation of cAMP biosynthetic process GO:0030819 9.43 GNAS PTH PTHLH
11 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.4 PTH PTH1R
12 response to parathyroid hormone GO:0071107 9.37 GNAS PTH
13 osteoblast development GO:0002076 9.33 BGLAP PTH1R PTHLH
14 cAMP metabolic process GO:0046058 9.32 PTH PTHLH
15 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.26 GNAS PTH PTH1R PTHLH
16 skeletal system development GO:0001501 9.02 BGLAP GNAS PTH PTH1R PTHLH

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

id Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 CGA PTH PTHLH
2 peptide hormone receptor binding GO:0051428 8.62 PTH PTHLH

Sources for Pseudohypoparathyroidism, Type Ib

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7 CNVD
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10 dbSNP
11 DGIdb
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18 FMA
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65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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