MCID: PSD066
MIFTS: 49

Pseudohypoparathyroidism, Type Ib malady

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

Aliases & Classifications for Pseudohypoparathyroidism, Type Ib

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Sources:
49OMIM, 47Novoseek, 65UMLS, 11diseasecard, 45NIH Rare Diseases, 51Orphanet, 22GeneTests, 67UniProtKB/Swiss-Prot, 24GTR, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pseudohypoparathyroidism, Type Ib:

Name: Pseudohypoparathyroidism, Type Ib 49 47 65
Pseudohypoparathyroidism Type 1b 45 51 65
Php1b 45 22 67
Pseudohypoparathyroidism 1b 67 24
 
Pseudohypoparathyroidism Ib 49 11
Pseudohypoparathyroidism Type Ib 22
Php 1b 22

Characteristics:

Orphanet epidemiological data:

51
pseudohypoparathyroidism type 1b:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Childhood,Infancy,Neonatal

HPO:

61
pseudohypoparathyroidism, type ib:
Inheritance: sporadic, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 603233
Orphanet51 94089
UMLS via Orphanet66 C2932715
ICD10 via Orphanet28 E20.1
MESH via Orphanet37 C548075
MedGen34 C1864100
MeSH36 D011547
UMLS65 C2932715, C1864100

Summaries for Pseudohypoparathyroidism, Type Ib

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OMIM:49 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 low tension glaucoma and pancreatitis, and has symptoms including short metacarpal, obesity and brachydactyly syndrome. An important gene associated with Pseudohypoparathyroidism, Type Ib is STX16 (Syntaxin 16), and among its related pathways are Endocrine and other factor-regulated calcium reabsorption and Osteoblast Signaling. Affiliated tissues include thyroid, kidney and skin, and related mouse phenotypes are craniofacial and limbs/digits/tail.

NIH Rare Diseases:45 Pseudohypoparathyroidism type 1b (php1b) is a genetic disorder that is caused by a lack of response (resistance) to parathyroid hormone (pth) and other hormones such as thyroid-stimulating hormone (tsh). this condition is very similar to hypoparathyroidism (in which not enough pth is produced), causing low calcium levels and high phosphate levels in the blood. resistance to pth in individuals with type 1b may be limited to the kidneys. the severity of the condition can vary considerably among affected individuals, even within the same family. most individuals do not have an abnormal physical appearance and usually do not exhibit other endocrine abnormalities. in some cases, php1b is inherited in an autosomal dominant manner and is caused by mutations in either the gnas or stx16 genes. in other cases, it has been shown to be sporadic (not inherited), caused by imprinting defects in the gnas gene. the goals of treatment are to correct the calcium deficiency and prevent complications. last updated: 7/8/2013

UniProtKB/Swiss-Prot:67 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

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Diseases in the Pseudohypoparathyroidism family:

Pseudohypoparathyroidism Ia Pseudohypoparathyroidism Ic
pseudohypoparathyroidism, type ib Pseudohypoparathyroidism Type 2

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

(show top 50)    (show all 96)
idRelated DiseaseScoreTop Affiliating Genes
1low tension glaucoma29.6BGLAP, PTH, PTHLH
2pancreatitis10.4
3charcot-marie-tooth disease type 510.3GNAS, STX16
4cytomegalovirus infection10.3
5osteogenesis imperfecta levin type10.2BGLAP, GNAS
6pseudopseudohypoparathyroidism10.2BGLAP, GNAS
7craniodiaphyseal dysplasia10.2BGLAP, GNAS
8hepatocellular carcinoma10.2
9asthma10.2
10breast cancer10.2
11cystic fibrosis10.2
12fragile x syndrome10.2
13hepatitis10.2
14islet cell tumor10.2
15leukemia10.2
16acute diarrhea10.2
17paraganglioma10.2
18chronic venous insufficiency10.2
19lymphoma10.2
20venous insufficiency10.2
21lymphoblastic leukemia10.2
22corneal neovascularization10.2
23heart disease10.2
24hypertensive heart disease10.2
25esophagitis10.2
26hiatus hernia10.2
27alcoholic cardiomyopathy10.2
28diarrhea10.2
29neuronal ceroid lipofuscinosis10.2
30arthus reaction10.2
31adenocarcinoma10.2
32malignant pleural mesothelioma10.2
33periampullary adenocarcinoma10.2
34neuronitis10.2
35erythromelalgia10.2
36allergic asthma10.2
37eisenmenger syndrome10.2
38hydrops fetalis10.2
39oral cancer10.2
40pancreatic islet cell tumors10.2
41cardiomyopathy10.2
42endotheliitis10.2
43pleural mesothelioma10.2
44adrenal carcinoma10.1BGLAP, GNAS
45brugada syndrome10.1
46fibrogenesis imperfecta ossium10.1BGLAP, PTH
47vkorc1-related altered drug metabolism10.1BGLAP, PTH
48parathyroid adenoma10.1BGLAP, PTH
49diabetic angiopathy10.1BGLAP, PTH
50acrodermatitis chronica atrophicans10.1BGLAP, PTH

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



Diseases related to pseudohypoparathyroidism, type ib

Symptoms for Pseudohypoparathyroidism, Type Ib

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Symptoms by clinical synopsis from OMIM:

603233

Clinical features from OMIM:

603233

HPO human phenotypes related to Pseudohypoparathyroidism, Type Ib:

(show all 8)
id Description Frequency HPO Source Accession
1 short metacarpal rare (5%) HP:0010049
2 obesity rare (5%) HP:0001513
3 brachydactyly syndrome rare (5%) HP:0001156
4 low urinary cyclic amp response to pth administration HP:0003456
5 elevated circulating parathyroid hormone (pth) level HP:0003165
6 hyperphosphatemia HP:0002905
7 hypocalcemia HP:0002901
8 pseudohypoparathyroidism HP:0000852

Drugs & Therapeutics for Pseudohypoparathyroidism, Type Ib

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pseudohypoparathyroidism, Type Ib

Genetic Tests for Pseudohypoparathyroidism, Type Ib

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Genetic tests related to Pseudohypoparathyroidism, Type Ib:

id Genetic test Affiliating Genes
1 Pseudohypoparathyroidism Type Ib22 STX16

Anatomical Context for Pseudohypoparathyroidism, Type Ib

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MalaCards organs/tissues related to Pseudohypoparathyroidism, Type Ib:

33
Thyroid, Kidney, Skin, Heart, Lung, T cells, Breast

Animal Models for Pseudohypoparathyroidism, Type Ib or affiliated genes

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MGI Mouse Phenotypes related to Pseudohypoparathyroidism, Type Ib:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.3GNAS, PTH, PTH1R, PTHLH
2MP:00053718.2GNAS, PTH, PTH1R, PTHLH

Publications for Pseudohypoparathyroidism, Type Ib

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Articles related to Pseudohypoparathyroidism, Type Ib:

(show all 42)
idTitleAuthorsYear
1
Effect of CYP3A5*3 on asthma control among children treated with inhaled beclomethasone. (25825214)
2015
2
Autografted Electrical Burn Complicated by Cutaneous Chromoblastomycosis. (26557947)
2015
3
Castleman's Disease: A rare finding in a pediatric neck. (24332608)
2014
4
Association of biomarkers of inflammation with dyslipidemia and its components among Mongolians in China. (24558466)
2014
5
Akt-activated endothelium constitutes the niche for residual disease and resistance to bevacizumab in ovarian cancer. (25319392)
2014
6
MicroRNA regulation of nonmuscle myosin light chain kinase expression in human lung endothelium. (23492194)
2013
7
Aberrant NDRG1 methylation associated with its decreased expression and clinicopathological significance in breast cancer. (23899187)
2013
8
Expression of expanded CAG transcripts triggers nucleolar stress in Huntington's disease. (23315009)
2013
9
Clinical protection, sub-clinical infection and persistence following vaccination with extinction payloads of O1 Manisa Foot-and-Mouth Disease monovalent vaccine and challenge in goats and comparison with sheep. (22079173)
2012
10
Characterizing the association between parenting and adolescent social phobia. (22445318)
2012
11
Closure of non-healing chronic ulcer in Klippel-Trenaunay syndrome using low-level laser therapy. (22707702)
2012
12
Tauroursodeoxycholic acid prevents retinal degeneration in transgenic P23H rats. (21508111)
2011
13
Serum 25-hydroxyvitamin D levels in patients with cutaneous lupus erythematosus in a Mediterranean region. (20305048)
2010
14
The effects of ADF/cofilin and profilin on the conformation of the ATP-binding cleft of monomeric actin. (19289059)
2009
15
Upregulation of Semaphorin 3A and the associated biochemical and cellular events in a rat model of retinal detachment. (18815803)
2009
16
Discovery of a novel HLA-Cw*08 allele, Cw*0817. (19392796)
2009
17
Comprehensive analysis of the functional TCR repertoire at the single-cell level. (18191637)
2008
18
GPCR proteomics: mass spectrometric and functional analysis of histamine H1 receptor after baculovirus-driven and in vitro cell free expression. (18177001)
2008
19
QSAR study of selective ligands for the thyroid hormone receptor beta. (17524652)
2007
20
Surfactant function and composition in premature infants treated with inhaled nitric oxide. (17671061)
2007
21
Combination of measles virus virotherapy and radiation therapy has synergistic activity in the treatment of glioblastoma multiforme. (18056196)
2007
22
A possible role for CCL27/CTACK-CCR10 interaction in recruiting CD4 T cells to skin in human graft-versus-host disease. (16681643)
2006
23
A rare cause of intestinal obstruction: incarcerated femoral hernia, strangulated obturator hernia. (16520887)
2006
24
How reliable is clinical assessment in neonatal jaundice? (15244244)
2004
25
Diffuse panbronchiolitis in a Caucasian man in Canada. (14679410)
2003
26
Increased AMP:ATP ratio and AMP-activated protein kinase activity during cellular senescence linked to reduced HuR function. (12730239)
2003
27
Gardening in greenhouses as a risk factor for silicosis. (12740524)
2003
28
Medical management of Cronkhite-Canada syndrome. (11846261)
2002
29
Malleostapedotomy in revision surgery for otosclerosis. (11698795)
2001
30
Gastric carcinoid--pathogenesis and treatment]. (10422189)
1999
31
A novel beta 1 integrin-dependent mechanism of leukocyte adherence to apoptotic cells. (10202028)
1999
32
A phage-based system to select multiple protein-protein interactions simultaneously from combinatorial libraries. (9862442)
1998
33
Circulating KL-6 predicts the outcome of rapidly progressive idiopathic pulmonary fibrosis. (9817725)
1998
34
Translocation of apolipoprotein B across the endoplasmic reticulum is blocked in abetalipoproteinemia. (8808765)
1996
35
The transcription factor Spi-1/PU.1 binds RNA and interferes with the RNA-binding protein p54nrb. (8626664)
1996
36
Cell type-specific trans-activation by the B-myb gene product: requirement of the putative cofactor binding to the C-terminal conserved domain. (7753546)
1995
37
Congenital gingival granular cell tumor. A case report. (7692016)
1993
38
Atypical fibroxanthoma of the cheek: a case report. (8419111)
1993
39
Magnetic resonance imaging of a glomus tumor. A case report. (2023788)
1991
40
Differences in induction of c-fos transcription by cholera toxin-derived cyclic AMP and Ca2+ signals in astrocytes and 3T3 fibroblasts. (1851095)
1991
41
Comparative analysis of cardiac function, geometry, energetics and coronary reserve in hypertensive heart disease. (2962004)
1987
42
Lipoid nephrosis in children; physiopathological study and therapeutic indications]. (13218770)
1954

Variations for Pseudohypoparathyroidism, Type Ib

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Clinvar genetic disease variations for Pseudohypoparathyroidism, Type Ib:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GNAS-AS1GNASAS, 4.7-KB DELdeletionPathogenic
2GNASGNAS, 4.7-KB DELdeletionPathogenic
3GNASGNAS, 3-BP DEL, CAT, EXON 13deletionPathogenic
4GNASGNAS, METHYLATION CHANGES, PATERNAL EPIGENOTYPEundetermined variantPathogenic
5STX16STX16, 3-KB TO 4.4-KB MICRODELETIONdeletionPathogenic

Expression for genes affiliated with Pseudohypoparathyroidism, Type Ib

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

Pathways for genes affiliated with Pseudohypoparathyroidism, Type Ib

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

idSuper pathwaysScoreTop Affiliating Genes
19.6GNAS, PTH1R
29.5PTH, PTH1R
39.5CGA, GNAS
49.5CGA, GNAS
58.7PTH, PTH1R, PTHLH
68.4BGLAP, CGA, PTH, PTH1R
7
Show member pathways
8.3GNAS, PTH, PTH1R, PTHLH
87.8BGLAP, GNAS, PTH, PTH1R, PTHLH
97.7CGA, GNAS, PTH, PTH1R, PTHLH
10
Show member pathways
7.7CGA, GNAS, PTH, PTH1R, PTHLH

GO Terms for genes affiliated with Pseudohypoparathyroidism, Type Ib

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1bone developmentGO:00603489.9BGLAP, GNAS
2cAMP metabolic processGO:00460589.6PTH, PTHLH
3response to ethanolGO:00454719.5BGLAP, PTH
4osteoblast developmentGO:00020769.5BGLAP, PTHLH
5response to vitamin DGO:00332809.4BGLAP, PTH
6female pregnancyGO:00075659.3GNAS, PTHLH
7cell-cell signalingGO:00072678.4CGA, PTH, PTHLH

Sources for Pseudohypoparathyroidism, Type Ib

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet