MCID: PSD033
MIFTS: 28

Pseudohypoparathyroidism Type 1b malady

Nephrological, Endocrine, Fetal categories

Summaries for Pseudohypoparathyroidism Type 1b

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 renal osteodystrophy and klinefelter's syndrome. 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 kidney and thyroid.

Description from OMIM:47 603233

Aliases & Classifications for Pseudohypoparathyroidism Type 1b

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 49Orphanet, 61UMLS, 47OMIM, 45Novoseek, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

pseudohypoparathyroidism type 1b 43 20 22 49 61
pseudohypoparathyroidism, type ib 47 45 61
pseudohypoparathyroidism ib 47
php1b 43


External Ids:

OMIM47 603233
MESH via Orphanet36 C548075
ICD10 via Orphanet26 E20.1
UMLS via Orphanet62 C2932715

Related Diseases for Pseudohypoparathyroidism Type 1b

Sources:
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

Sources:
47OMIM
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Clinical features from OMIM:

603233

Clinical synopsis from OMIM:

603233

Drugs & Therapeutics for Pseudohypoparathyroidism Type 1b

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Pseudohypoparathyroidism Type 1b

Drug clinical trials:

Search ClinicalTrials for Pseudohypoparathyroidism Type 1b

Search NIH Clinical Center for Pseudohypoparathyroidism Type 1b

Search CenterWatch for Pseudohypoparathyroidism Type 1b

Genetic Tests for Pseudohypoparathyroidism Type 1b

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Pseudohypoparathyroidism Type 1b:

33
Kidney, Thyroid

Animal Models for Pseudohypoparathyroidism Type 1b or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Pseudohypoparathyroidism Type 1b

Genetic Variations for Pseudohypoparathyroidism Type 1b

Expression for genes affiliated with Pseudohypoparathyroidism Type 1b

Sources:
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
Hide members
9.3PTHLH, GNAS

Compounds for genes affiliated with Pseudohypoparathyroidism Type 1b

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Pseudohypoparathyroidism Type 1b according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1octreotide45 60 29 1112.3PTHLH, GNAS
2norepinephrine45 11 2411.3PTHLH, GNAS
3isoproterenol45 1110.2PTHLH, GNAS
4ribonucleic acid459.0PTHLH, GNAS

GO Terms for genes affiliated with Pseudohypoparathyroidism Type 1b

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pseudohypoparathyroidism Type 1b

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet