HHS
MCID: HYP168
MIFTS: 21

Hyperostosis-Hyperphosphatemia Syndrome (HHS) malady

Rare diseases category
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Summaries for Hyperostosis-Hyperphosphatemia Syndrome

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MalaCards based summary: Hyperostosis-Hyperphosphatemia Syndrome, also known as cortical hyperostosis with hyperphosphatemia, is related to hyperostosis and hyperphosphatemia. An important gene associated with Hyperostosis-Hyperphosphatemia Syndrome is GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3). The compound heparin have been mentioned in the context of this disorder. Related mouse phenotypes are renal/urinary system and limbs/digits/tail.

Aliases & Classifications for Hyperostosis-Hyperphosphatemia Syndrome

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Hyperostosis-Hyperphosphatemia Syndrome, Aliases & Descriptions:

Name: Hyperostosis-Hyperphosphatemia Syndrome 42 62
Cortical Hyperostosis with Hyperphosphatemia 42 62
 
Hyperostosis with Hyperphosphatemia 42 62
Hhs 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Related Diseases for Hyperostosis-Hyperphosphatemia Syndrome

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1hyperostosis30.8FGF23, GALNT3
2hyperphosphatemia30.8GALNT3, FGF23
3hyperphosphatemic familial tumoral calcinosis30.2FGF23, GALNT3
4calcinosis30.2FGF23, GALNT3
5familial tumoral calcinosis10.4
6hypogonadotropic hypogonadism 2 with or without anosmia10.2
7hypotrichosis 110.2
8hemochromatosis10.1
9isolated gonadotropin-releasing hormone deficiency10.1
10dyskeratosis congenita x-linked10.1
11dyskeratosis congenita, autosomal dominant 110.1
12hypogonadism, hypergonadotropic10.1
13dyskeratosis congenita, autosomal recessive 510.1
14hepatitis9.9
15hiv-19.9
16hypertension9.9
17pancreatic cancer9.9
18hypogonadotropism9.9
19siderosis9.9
20breast cancer9.9
21epilepsy syndrome9.9
22hemiplegia9.9
23hypogonadism9.9
24malignant hypertension9.9
25pancreatitis9.9
26hypotrichosis simplex9.9
27hypogonadotropic hypogonadism 9 with or without anosmia9.9
28hypogonadotropic hypogonadism 13 with or without anosmia9.9
29hypogonadotropic hypogonadism 15 with or without anosmia9.9
30hypogonadotropic hypogonadism 4 with or without anosmia9.9
31hypogonadotropic hypogonadism 18 with or without anosmia9.9
32hypogonadotropic hypogonadism 7 without anosmia9.9
33hypogonadotropic hypogonadism 11 with or without anosmia9.9
34hypogonadotropic hypogonadism 17 with or without anosmia9.9
35hypogonadotropic hypogonadism 16 with or without anosmia9.9
36hypogonadotropic hypogonadism with or without anosmia9.9
37hypogonadotropic hypogonadism 20 with or without anosmia9.9
38hypogonadotropic hypogonadism 12 with or without anosmia9.9
39hypogonadotropic hypogonadism 5 with or without anosmia9.9
40hypogonadotropic hypogonadism 6 with or without anosmia9.9
41hypogonadotropic hypogonadism 14 with or without anosmia9.9
42hypogonadotropic hypogonadism 10 with or without anosmia9.9
43hypogonadotropic hypogonadism 19 with or without anosmia9.9
44hypogonadotropic hypogonadism 8 with or without anosmia9.9
45hypogonadotropic hypogonadism 3 with or without anosmia9.9
46hypogonadotropic hypogonadism 21 with anosmia9.9
47x-linked hypophosphatemia9.8FGF23, GALNT3

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



Diseases related to hyperostosis-hyperphosphatemia syndrome

Symptoms for Hyperostosis-Hyperphosphatemia Syndrome

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Drugs & Therapeutics for Hyperostosis-Hyperphosphatemia Syndrome

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Drug clinical trials:

Search ClinicalTrials for Hyperostosis-Hyperphosphatemia Syndrome

Search NIH Clinical Center for Hyperostosis-Hyperphosphatemia Syndrome

Genetic Tests for Hyperostosis-Hyperphosphatemia Syndrome

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Anatomical Context for Hyperostosis-Hyperphosphatemia Syndrome

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Animal Models for Hyperostosis-Hyperphosphatemia Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hyperostosis-Hyperphosphatemia Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.0FGF23, GALNT3
2MP:00053718.7FGF23, GALNT3

Publications for Hyperostosis-Hyperphosphatemia Syndrome

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Articles related to Hyperostosis-Hyperphosphatemia Syndrome:

idTitleAuthorsYear
1
Hyperostosis-hyperphosphatemia syndrome (HHS): report of two cases with a recurrent mutation and review of the literature. (25153226)
2014
2
A new missense mutation in FGF23 gene in a male with hyperostosis-hyperphosphatemia syndrome (HHS). (24680727)
2014
3
Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome. (19297793)
2009
4
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. (18982401)
2009
5
Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. (17311862)
2007
6
Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23. (17129170)
2007
7
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. (15599692)
2005

Variations for Hyperostosis-Hyperphosphatemia Syndrome

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Expression for genes affiliated with Hyperostosis-Hyperphosphatemia Syndrome

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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

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Compounds for genes affiliated with Hyperostosis-Hyperphosphatemia Syndrome

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Sources:
44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Hyperostosis-Hyperphosphatemia Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1heparin44 28 24 1112.1FGF23, POMGNT2

GO Terms for genes affiliated with Hyperostosis-Hyperphosphatemia Syndrome

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Products for genes affiliated with Hyperostosis-Hyperphosphatemia Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Hyperostosis-Hyperphosphatemia Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet