MCID: ANK015
MIFTS: 16

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 57 53 59
Familial Ankylosing Vertebral Hyperostosis with Tylosis 53

Characteristics:

Orphanet epidemiological data:

59
ankylosing vertebral hyperostosis with tylosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ankylosing vertebral hyperostosis with tylosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 106400
Orphanet 59 ORPHA2206
ICD10 via Orphanet 34 M48.1
MedGen 42 C0020498

Summaries for Ankylosing Vertebral Hyperostosis with Tylosis

NIH Rare Diseases : 53 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 obesity and osteoarthritis

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

Symptoms via clinical synopsis from OMIM:

57
Spine:
ankylosing vertebral hyperostosis

Skin:
tylosis
punctate palmar and solar hyperkeratosis


Clinical features from OMIM:

106400

Human phenotypes related to Ankylosing Vertebral Hyperostosis with Tylosis:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
2 osteoarthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002758
3 palmoplantar keratoderma 59 32 frequent (33%) Frequent (79-30%) HP:0000982
4 abnormality of the vertebral column 59 32 hallmark (90%) Very frequent (99-80%) HP:0000925
5 abnormal pelvis bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0040163
6 vertebral hyperostosis 32 HP:0008442
7 punctate palmar hyperkeratosis 32 HP:0007508

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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