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 53 73
Choroideremia, Obesity, and Congenital Deafness 53
Choroideremia Deafness Obesity 53

Classifications:



External Ids:

UMLS 73 C1844836

Summaries for Ayazi Syndrome

NIH Rare Diseases : 53 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 : 76 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 11.2
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 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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