MCID: PSD033
MIFTS: 35

Pseudohypoparathyroidism Type 1b malady

Nephrological diseases, Endocrine diseases, Fetal diseases categories

Summaries for Pseudohypoparathyroidism Type 1b

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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

MalaCards: Pseudohypoparathyroidism Type 1b, also known as pseudohypoparathyroidism, type ib, is related to pseudohypoparathyroidism and hyperparathyroidism. An important gene associated with Pseudohypoparathyroidism Type 1b is GNAS (GNAS complex locus), and among its related pathways is Development Hedgehog and PTH signaling pathways in bone and cartilage development. The compounds octreotide and norepinephrine have been mentioned in the context of this disorder. Affiliated tissues include thyroid and kidney.

Description from OMIM:46 603233

Aliases & Classifications for Pseudohypoparathyroidism Type 1b

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42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Nephrological diseases, Endocrine diseases


Aliases & Descriptions:

pseudohypoparathyroidism type 1b 42 20 22 48 60
pseudohypoparathyroidism, type ib 46 44 60
pseudohypoparathyroidism ib 46
php1b 42


External Ids:

OMIM46 603233
MESH via Orphanet35 C548075
ICD10 via Orphanet26 E20.1
UMLS via Orphanet61 C2932715

Related Diseases for Pseudohypoparathyroidism Type 1b

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Pseudohypoparathyroidism Type 1b:



Diseases related to pseudohypoparathyroidism type 1b

Clinical Features for Pseudohypoparathyroidism Type 1b

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46OMIM
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Clinical features from OMIM:

603233

Clinical synopsis from OMIM:

603233

Drugs & Therapeutics for Pseudohypoparathyroidism Type 1b

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Pseudohypoparathyroidism Type 1b

Search CenterWatch for Pseudohypoparathyroidism Type 1b

Genetic Tests for Pseudohypoparathyroidism Type 1b

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20GeneTests, 22GTR
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Genetic tests related to Pseudohypoparathyroidism Type 1b:

id Genetic test Affiliating Genes
1 Pseudohypoparathyroidism Type Ib20 STX16
2 Pseudohypoparathyroidism Type 1b22

Anatomical Context for Pseudohypoparathyroidism Type 1b

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32MalaCards
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MalaCards organs/tissues related to Pseudohypoparathyroidism Type 1b:

32
Thyroid, Kidney

Animal Models for Pseudohypoparathyroidism Type 1b or affiliated genes

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Publications for Pseudohypoparathyroidism Type 1b

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Genetic Variations for Pseudohypoparathyroidism Type 1b

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Expression for genes affiliated with Pseudohypoparathyroidism Type 1b

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pseudohypoparathyroidism Type 1b

Search GEO for disease gene expression data for Pseudohypoparathyroidism Type 1b.

Pathways for genes affiliated with Pseudohypoparathyroidism Type 1b

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12EMD Millipore
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Pathways related to Pseudohypoparathyroidism Type 1b according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Development Hedgehog and PTH signaling pathways in bone and cartilage development
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9.3PTHLH, GNAS

Compounds for genes affiliated with Pseudohypoparathyroidism Type 1b

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44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Pseudohypoparathyroidism Type 1b according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1octreotide44 59 28 1112.3PTHLH, GNAS
2norepinephrine44 11 2411.3PTHLH, GNAS
3isoproterenol44 1110.2PTHLH, GNAS
4ribonucleic acid449.0PTHLH, GNAS

GO Terms for genes affiliated with Pseudohypoparathyroidism Type 1b

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16Gene Ontology
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Biological processes related to Pseudohypoparathyroidism Type 1b according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1female pregnancyGO:0075659.3PTHLH, GNAS
2endochondral ossificationGO:0019589.2PTHLH, GNAS
3positive regulation of cAMP biosynthetic processGO:0308199.0PTHLH, GNAS

Products for genes affiliated with Pseudohypoparathyroidism Type 1b

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pseudohypoparathyroidism Type 1b

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet