MCID: ANK015
MIFTS: 18

Ankylosing Vertebral Hyperostosis with Tylosis

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Ankylosing Vertebral Hyperostosis with Tylosis

MalaCards integrated aliases for Ankylosing Vertebral Hyperostosis with Tylosis:

Name: Ankylosing Vertebral Hyperostosis with Tylosis 58 54 60
Familial Ankylosing Vertebral Hyperostosis with Tylosis 54

Characteristics:

Orphanet epidemiological data:

60
ankylosing vertebral hyperostosis with tylosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: any age;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
ankylosing vertebral hyperostosis with tylosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 106400
ICD10 via Orphanet 35 M48.1
Orphanet 60 ORPHA2206
MedGen 43 C0020498

Summaries for Ankylosing Vertebral Hyperostosis with Tylosis

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2206Disease definitionThis syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms.EpidemiologyIt has been described in at least eight patients, in four sibships spanning two generations of a Greek-Cypriot family.Clinical descriptionSix other members of the family presented with palmoplantar hyperkeratosis alone.Differential diagnosisIt is distinct from diffuse idiopathic skeletal hyperostosis (DISH) which is not a rare disease.Genetic counselingThis syndrome is likely to be transmitted as an autosomal dominanttrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Ankylosing Vertebral Hyperostosis with Tylosis, also known as familial ankylosing vertebral hyperostosis with tylosis, is related to hyperostosis. The drugs Insulin, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are osteoarthritis and abnormality of the vertebral column

Description from OMIM: 106400

Related Diseases for Ankylosing Vertebral Hyperostosis with Tylosis

Diseases related to Ankylosing Vertebral Hyperostosis with Tylosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperostosis 10.3

Symptoms & Phenotypes for Ankylosing Vertebral Hyperostosis with Tylosis

Human phenotypes related to Ankylosing Vertebral Hyperostosis with Tylosis:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002758
2 abnormality of the vertebral column 60 33 hallmark (90%) Very frequent (99-80%) HP:0000925
3 abnormal pelvis bone morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0040163
4 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513
5 palmoplantar keratoderma 60 33 frequent (33%) Frequent (79-30%) HP:0000982
6 vertebral hyperostosis 33 HP:0008442
7 punctate palmar hyperkeratosis 33 HP:0007508

Symptoms via clinical synopsis from OMIM:

58
Spine:
ankylosing vertebral hyperostosis

Skin:
tylosis
punctate palmar and solar hyperkeratosis

Clinical features from OMIM:

106400

Drugs & Therapeutics for Ankylosing Vertebral Hyperostosis with Tylosis

Drugs for Ankylosing Vertebral Hyperostosis with Tylosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Insulin, Globin Zinc Not Applicable
2 insulin Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Magnetic Resonance Imaging in High Risk Patients for the Development of Diffuse Idiopathic Skeletal Hyperostosis (DISH) Active, not recruiting NCT03237455 Not Applicable

Search NIH Clinical Center for Ankylosing Vertebral Hyperostosis with Tylosis

Genetic Tests for Ankylosing Vertebral Hyperostosis with Tylosis

Anatomical Context for Ankylosing Vertebral Hyperostosis with Tylosis

MalaCards organs/tissues related to Ankylosing Vertebral Hyperostosis with Tylosis:

42
Bone

Publications for Ankylosing Vertebral Hyperostosis with Tylosis

Articles related to Ankylosing Vertebral Hyperostosis with Tylosis:

# Title Authors Year
1
Familial ankylosing vertebral hyperostosis with tylosis. ( 5346342 )
1969

Variations for Ankylosing Vertebral Hyperostosis with Tylosis

Expression for Ankylosing Vertebral Hyperostosis with Tylosis

Search GEO for disease gene expression data for Ankylosing Vertebral Hyperostosis with Tylosis.

Pathways for Ankylosing Vertebral Hyperostosis with Tylosis

GO Terms for Ankylosing Vertebral Hyperostosis with Tylosis

Sources for Ankylosing Vertebral Hyperostosis with Tylosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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