DEL
MCID: CHR506
MIFTS: 25

Choroideremia, Deafness, and Mental Retardation (DEL)

Categories: Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Mental 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 58 13 41 74
Ayazi Syndrome 60 74
Chromosome Xq21 Deletion Syndrome 58
Xq21 Microdeletion Syndrome 60
Monosomy Xq21 60
Del 60

Characteristics:

Orphanet epidemiological data:

60
xq21 microdeletion syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
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:

33
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

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

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001513
2 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
3 choroideremia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001139
4 chorioretinal degeneration 33 hallmark (90%) HP:0200065
5 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
6 intellectual disability 33 HP:0001249
7 hearing impairment 33 HP:0000365
8 global developmental delay 33 HP:0001263
9 progressive visual loss 33 HP:0000529
10 nyctalopia 33 HP:0000662
11 conductive hearing impairment 33 HP:0000405
12 chorioretinal abnormality 60 Very frequent (99-80%)
13 constriction of peripheral visual field 33 HP:0001133
14 progressive sensorineural hearing impairment 33 HP:0000408
15 choroidal degeneration 60 Very frequent (99-80%)
16 chorioretinal atrophy 33 HP:0000533

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
developmental delay
mental retardation

Head And Neck Eyes:
night blindness (occurs first)
constricted visual fields (occurs second)
reduced central vision (occurs last)
atrophy around the optic disc (in carrier females)
irregular pigmentation of fundus (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

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:

42
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 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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