MCID: CHR506
MIFTS: 24

Choroideremia, Deafness, and Mental Retardation

Categories: Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Choroideremia, Deafness, and Mental Retardation

MalaCards integrated aliases for Choroideremia, Deafness, and Mental Retardation:

Name: Choroideremia, Deafness, and Mental Retardation 57 13 40 73
Ayazi Syndrome 59 73
Choroideremia-Deafness-Obesity Syndrome 59
Chromosome Xq21 Deletion Syndrome 57

Characteristics:

Orphanet epidemiological data:

59
choroideremia-deafness-obesity syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Miscellaneous:
contiguous gene deletion syndrome
onset of choroideremia in second to third decade
leakage of fluid ('gusher') if the stapes is disturbed
female carriers may have mild hearing impairment and/or mild signs of choroideremia

Inheritance:
x-linked recessive


HPO:

32
choroideremia, deafness, and mental retardation:
Inheritance contiguous gene syndrome x-linked inheritance x-linked recessive inheritance


Classifications:



Summaries for Choroideremia, Deafness, and Mental Retardation

MalaCards based summary : Choroideremia, Deafness, and Mental Retardation, also known as ayazi syndrome, is related to ayazi syndrome and choroideremia. An important gene associated with Choroideremia, Deafness, and Mental Retardation is DELXQ21 (Choroideremia, Deafness, And Mental Retardation). Affiliated tissues include bone, eye and retina, and related phenotypes are obesity and sensorineural hearing impairment

Description from OMIM: 303110

Related Diseases for Choroideremia, Deafness, and Mental Retardation

Diseases related to Choroideremia, Deafness, and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ayazi syndrome 12.4
2 choroideremia 11.7
3 deafness, x-linked 2 11.3

Symptoms & Phenotypes for Choroideremia, Deafness, and Mental Retardation

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
developmental delay
mental retardation

Head And Neck Eyes:
choroidal sclerosis
night blindness (occurs first)
constricted visual fields (occurs second)
reduced central vision (occurs last)
atrophy around the optic disc (in carrier females)
more
Head And Neck Ears:
hearing loss, conductive
stapes fixation
deafness, profound
hearing loss, sensorineural, progressive
wide bulbous internal auditory meatus
more

Clinical features from OMIM:

303110

Human phenotypes related to Choroideremia, Deafness, and Mental Retardation:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001513
2 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
3 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
4 choroideremia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001139
5 intellectual disability 32 HP:0001249
6 hearing impairment 32 HP:0000365
7 global developmental delay 32 HP:0001263
8 progressive visual loss 32 HP:0000529
9 nyctalopia 32 HP:0000662
10 conductive hearing impairment 32 HP:0000405
11 chorioretinal abnormality 59 Very frequent (99-80%)
12 constriction of peripheral visual field 32 HP:0001133
13 progressive sensorineural hearing impairment 32 HP:0000408
14 choroidal degeneration 59 Very frequent (99-80%)
15 chorioretinal atrophy 32 HP:0000533
16 chorioretinal degeneration 32 hallmark (90%) HP:0200065

Drugs & Therapeutics for Choroideremia, Deafness, and Mental Retardation

Search Clinical Trials , NIH Clinical Center for Choroideremia, Deafness, and Mental Retardation

Genetic Tests for Choroideremia, Deafness, and Mental Retardation

Anatomical Context for Choroideremia, Deafness, and Mental Retardation

MalaCards organs/tissues related to Choroideremia, Deafness, and Mental Retardation:

41
Bone, Eye, Retina

Publications for Choroideremia, Deafness, and Mental Retardation

Articles related to Choroideremia, Deafness, and Mental Retardation:

# Title Authors Year
1
A maternally inherited 8.05A Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient. ( 28630650 )
2017
2
Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. ( 3476958 )
1987

Variations for Choroideremia, Deafness, and Mental Retardation

Expression for Choroideremia, Deafness, and Mental Retardation

Search GEO for disease gene expression data for Choroideremia, Deafness, and Mental Retardation.

Pathways for Choroideremia, Deafness, and Mental Retardation

GO Terms for Choroideremia, Deafness, and Mental Retardation

Sources for Choroideremia, Deafness, and Mental Retardation

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
Content
Loading form....