MCID: AYZ001
MIFTS: 9

Ayazi Syndrome

Categories: Ear diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Ayazi Syndrome

MalaCards integrated aliases for Ayazi Syndrome:

Name: Ayazi Syndrome 54 74
Choroideremia, Obesity, and Congenital Deafness 54
Choroideremia Deafness Obesity 54

Classifications:



External Ids:

UMLS 74 C1844836

Summaries for Ayazi Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1435Disease definitionChoroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.Visit the Orphanet disease page for more resources.

MalaCards based summary : Ayazi Syndrome, also known as choroideremia, obesity, and congenital deafness, is related to choroideremia, deafness, and mental retardation and choroideremia.

Wikipedia : 77 Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome) is a syndrome characterized by choroideremia,... more...

Related Diseases for Ayazi Syndrome

Diseases related to Ayazi Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 choroideremia, deafness, and mental retardation 11.3
2 choroideremia 10.2

Symptoms & Phenotypes for Ayazi Syndrome

Drugs & Therapeutics for Ayazi Syndrome

Search Clinical Trials , NIH Clinical Center for Ayazi Syndrome

Genetic Tests for Ayazi Syndrome

Anatomical Context for Ayazi Syndrome

Publications for Ayazi Syndrome

Articles related to Ayazi Syndrome:

# Title Authors Year
1
Choroideremia, obesity, and congenital deafness. ( 7258279 )
1981

Variations for Ayazi Syndrome

Expression for Ayazi Syndrome

Search GEO for disease gene expression data for Ayazi Syndrome.

Pathways for Ayazi Syndrome

GO Terms for Ayazi Syndrome

Sources for Ayazi Syndrome

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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