MCID: CHR506
MIFTS: 26

Choroideremia, Deafness, and Mental Retardation

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 41 74
Chromosome Xq21 Deletion Syndrome 58 13
Ayazi Syndrome 60 74
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 chromosome xq21 deletion 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 pituitary, bone and testes, 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 11.4

Symptoms & Phenotypes for Choroideremia, Deafness, and Mental Retardation

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

60 33 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 60 33 hallmark (90%) Frequent (79-30%) 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 global developmental delay 60 33 Frequent (79-30%) HP:0001263
7 conductive hearing impairment 60 33 Frequent (79-30%) HP:0000405
8 nystagmus 60 Occasional (29-5%)
9 hypertension 60 Occasional (29-5%)
10 intellectual disability 33 HP:0001249
11 seizures 60 Occasional (29-5%)
12 ataxia 60 Frequent (79-30%)
13 hyperreflexia 60 Frequent (79-30%)
14 hearing impairment 33 HP:0000365
15 delayed skeletal maturation 60 Frequent (79-30%)
16 optic atrophy 60 Frequent (79-30%)
17 intellectual disability, mild 60 Frequent (79-30%)
18 progressive visual loss 33 HP:0000529
19 growth delay 60 Frequent (79-30%)
20 postnatal growth retardation 60 Frequent (79-30%)
21 gait ataxia 60 Frequent (79-30%)
22 reduced visual acuity 60 Frequent (79-30%)
23 nyctalopia 33 HP:0000662
24 anterior hypopituitarism 60 Frequent (79-30%)
25 dysdiadochokinesis 60 Occasional (29-5%)
26 abnormal cochlea morphology 60 Frequent (79-30%)
27 chorioretinal abnormality 60 Very frequent (99-80%)
28 constriction of peripheral visual field 33 HP:0001133
29 upper limb muscle weakness 60 Occasional (29-5%)
30 ankle clonus 60 Frequent (79-30%)
31 pituitary hypothyroidism 60 Frequent (79-30%)
32 progressive night blindness 60 Frequent (79-30%)
33 adrenocorticotropic hormone deficiency 60 Excluded (0%)
34 chorioretinal atrophy 33 HP:0000533
35 abnormality of the achilles tendon 60 Frequent (79-30%)
36 visual acuity test abnormality 60 Frequent (79-30%)
37 progressive sensorineural hearing impairment 33 HP:0000408
38 growth hormone deficiency 60 Frequent (79-30%)
39 choroidal degeneration 60 Very frequent (99-80%)
40 stapes ankylosis 60 Frequent (79-30%)
41 dilatated internal auditory canal 60 Frequent (79-30%)
42 reticular pigmentary degeneration 60 Frequent (79-30%)
43 peripheral visual field loss 60 Frequent (79-30%)
44 bilateral sensorineural hearing impairment 60 Frequent (79-30%)
45 renal artery stenosis 60 Occasional (29-5%)
46 central diabetes insipidus 60 Excluded (0%)
47 anterior pituitary dysgenesis 60 Excluded (0%)

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
Pituitary, Bone, Testes, Eye, Retina

Publications for Choroideremia, Deafness, and Mental Retardation

Articles related to Choroideremia, Deafness, and Mental Retardation:

# Title Authors Year
1
A maternally inherited 8.05 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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