HHS
MCID: HYP168
MIFTS: 20

Hyperostosis-Hyperphosphatemia Syndrome (HHS) malady

Rare diseases category
Download this MalaCard

Summaries for Hyperostosis-Hyperphosphatemia Syndrome

About this section
Sources:
33MalaCards
See all sources

Fully expand this MalaCard
MalaCards: 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

About this section
Sources:
43NIH Rare Diseases, 62UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

hyperostosis-hyperphosphatemia syndrome 43 62
cortical hyperostosis with hyperphosphatemia 43
hyperostosis with hyperphosphatemia 43
hhs 43


Related Diseases for Hyperostosis-Hyperphosphatemia Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1hyperostosis30.8FGF23, GALNT3
2hyperphosphatemia30.8GALNT3, FGF23
3calcinosis30.5FGF23, GALNT3
4hyperphosphatemic familial tumoral calcinosis30.3FGF23, 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
14x-linked hypophosphatemia9.9FGF23, GALNT3
15siderosis9.9
16hypogonadotropism9.9
17basal cell carcinoma9.9
18breast cancer9.9
19epilepsy syndrome9.9
20hemiplegia9.9
21hepatitis9.9
22hypertension9.9
23hypogonadism9.9
24malignant hypertension9.9
25hypotrichosis simplex9.9
26hypogonadotropic hypogonadism 9 with or without anosmia9.9
27hiv-19.9
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 with or 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 20 with or without anosmia9.9
37hypogonadotropic hypogonadism 12 with or without anosmia9.9
38hypogonadotropic hypogonadism 5 with or without anosmia9.9
39hypogonadotropic hypogonadism 6 with or without anosmia9.9
40hypogonadotropic hypogonadism 14 with or without anosmia9.9
41hypogonadotropic hypogonadism 10 with or without anosmia9.9
42hypogonadotropic hypogonadism 19 with or without anosmia9.9
43hypogonadotropic hypogonadism 8 with or without anosmia9.9
44hypogonadotropic hypogonadism 3 with or without anosmia9.9
45hypogonadotropic hypogonadism 21 with anosmia9.9

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



Diseases related to hyperostosis-hyperphosphatemia syndrome

Symptoms for Hyperostosis-Hyperphosphatemia Syndrome

About this section

Drugs & Therapeutics for Hyperostosis-Hyperphosphatemia Syndrome

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Hyperostosis-Hyperphosphatemia Syndrome

Search NIH Clinical Center for Hyperostosis-Hyperphosphatemia Syndrome

Genetic Tests for Hyperostosis-Hyperphosphatemia Syndrome

About this section

Anatomical Context for Hyperostosis-Hyperphosphatemia Syndrome

About this section

Animal Models for Hyperostosis-Hyperphosphatemia Syndrome or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Hyperostosis-Hyperphosphatemia Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.0FGF23, GALNT3
2MP:00053718.7FGF23, GALNT3

Publications for Hyperostosis-Hyperphosphatemia Syndrome

About this section
Sources:
52PubMed
See all sources

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

Variations for Hyperostosis-Hyperphosphatemia Syndrome

About this section

Expression for genes affiliated with Hyperostosis-Hyperphosphatemia Syndrome

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Hyperostosis-Hyperphosphatemia Syndrome

About this section
Sources:
45Novoseek, 29IUPHAR, 24HMDB, 11DrugBank
See all sources

Compounds related to Hyperostosis-Hyperphosphatemia Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1heparin45 29 24 1112.1FGF23, POMGNT2

GO Terms for genes affiliated with Hyperostosis-Hyperphosphatemia Syndrome

About this section

Products for genes affiliated with Hyperostosis-Hyperphosphatemia Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperostosis-Hyperphosphatemia Syndrome

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet