HHS
MCID: HYP168
MIFTS: 17

Hyperostosis-Hyperphosphatemia Syndrome (HHS) malady

Summaries for Hyperostosis-Hyperphosphatemia Syndrome

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33MalaCards
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MalaCards: Hyperostosis-Hyperphosphatemia Syndrome, also known as cortical hyperostosis with hyperphosphatemia, is related to hyperphosphatemia and hyperphosphatemic familial tumoral calcinosis. An important gene associated with Hyperostosis-Hyperphosphatemia Syndrome is GALNT3 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)). The compound heparin have been mentioned in the context of this disorder.

Aliases & Classifications for Hyperostosis-Hyperphosphatemia Syndrome

Sources:
43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

hyperostosis-hyperphosphatemia syndrome 43 61
cortical hyperostosis with hyperphosphatemia 43
hyperostosis with hyperphosphatemia 43
hhs 43


Related Diseases for Hyperostosis-Hyperphosphatemia Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hyperostosis-Hyperphosphatemia Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1hyperphosphatemia30.8GALNT3, FGF23
2hyperphosphatemic familial tumoral calcinosis30.3FGF23, GALNT3
3familial tumoral calcinosis10.4
4hypotrichosis simplex10.3
5n syndrome10.2
6hypogonadotropic hypogonadism 2 with or without anosmia10.2
7hemochromatosis10.1
8isolated gonadotropin-releasing hormone deficiency10.1
9dyskeratosis congenita x-linked10.1
10dyskeratosis congenita, autosomal dominant 110.1
11hypogonadism, hypergonadotropic10.1
12dyskeratosis congenita, autosomal recessive 510.1
13osteoarthritis10.0POMGNT2
14adenocarcinoma10.0POMGNT2
15rickets10.0FGF23
16x-linked hypophosphatemia10.0GALNT3, FGF23
17hyperostosis10.0FGF23, GALNT3
18calcinosis10.0FGF23, GALNT3
19hepatitis c9.9
20siderosis9.9
21basal cell carcinoma9.9
22hypogonadotropic hypogonadism 9 with or without anosmia9.9
23hypogonadotropic hypogonadism 13 with or without anosmia9.9
24hypogonadotropic hypogonadism 15 with or without anosmia9.9
25hypogonadotropic hypogonadism 4 with or without anosmia9.9
26hypogonadotropic hypogonadism 18 with or without anosmia9.9
27hypogonadotropic hypogonadism 7 with or without anosmia9.9
28hypogonadotropic hypogonadism 11 with or without anosmia9.9
29hypogonadotropic hypogonadism 17 with or without anosmia9.9
30hypogonadotropic hypogonadism 16 with or without anosmia9.9
31hypogonadotropic hypogonadism 20 with or without anosmia9.9
32hypogonadotropic hypogonadism 12 with or without anosmia9.9
33hypogonadotropic hypogonadism 5 with or without anosmia9.9
34hypogonadotropic hypogonadism 6 with or without anosmia9.9
35hypogonadotropic hypogonadism 14 with or without anosmia9.9
36hypogonadotropic hypogonadism 10 with or without anosmia9.9
37hypogonadotropic hypogonadism 19 with or without anosmia9.9
38hypogonadotropic hypogonadism 8 with or without anosmia9.9
39hypogonadotropic hypogonadism 3 with or without anosmia9.9
40hypogonadotropic hypogonadism 21 with anosmia9.9

Graphical network of the top 20 diseases related to Hyperostosis-Hyperphosphatemia Syndrome:



Diseases related to hyperostosis-hyperphosphatemia syndrome

Clinical Features for Hyperostosis-Hyperphosphatemia Syndrome

Drugs & Therapeutics for Hyperostosis-Hyperphosphatemia Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Hyperostosis-Hyperphosphatemia Syndrome

Search CenterWatch for Hyperostosis-Hyperphosphatemia Syndrome

Genetic Tests for Hyperostosis-Hyperphosphatemia Syndrome

Anatomical Context for Hyperostosis-Hyperphosphatemia Syndrome

Animal Models for Hyperostosis-Hyperphosphatemia Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hyperostosis-Hyperphosphatemia Syndrome

Sources:
51PubMed
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Articles related to Hyperostosis-Hyperphosphatemia Syndrome:

idTitleAuthorsYear
1
Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome. (19297793)
2009
2
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. (18982401)
2009
3
Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. (17311862)
2007
4
Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23. (17129170)
2007
5
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. (15599692)
2005
6
The syndrome of hyperostosis and hyperphosphatemia. (6273518)
1981
7
Cortical hyperostosis with hyperphosphatemia: a new syndrome? (5486638)
1970

Genetic Variations for Hyperostosis-Hyperphosphatemia Syndrome

Expression for genes affiliated with Hyperostosis-Hyperphosphatemia Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperostosis-Hyperphosphatemia Syndrome

Search GEO for disease gene expression data for Hyperostosis-Hyperphosphatemia Syndrome.

Pathways for genes affiliated with Hyperostosis-Hyperphosphatemia Syndrome

Compounds for genes affiliated with Hyperostosis-Hyperphosphatemia Syndrome

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Hyperostosis-Hyperphosphatemia Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1heparin45 29 11 2412.1FGF23, POMGNT2

GO Terms for genes affiliated with Hyperostosis-Hyperphosphatemia Syndrome

Products for genes affiliated with Hyperostosis-Hyperphosphatemia Syndrome

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  • Proteins
  • Lysates
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Sources for Hyperostosis-Hyperphosphatemia Syndrome

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