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DEL
MCID: CHR506
MIFTS: 27

Choroideremia, Deafness, and Mental Retardation (DEL)

Categories: Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Choroideremia, Deafness, and Mental Retardation

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

Name: Choroideremia, Deafness, and Mental Retardation 57 71
Chromosome Xq21 Deletion Syndrome 57 13
Ayazi Syndrome 58 71
Xq21 Microdeletion Syndrome 58
Monosomy Xq21 58
Del 58

Characteristics:

Orphanet epidemiological data:

58
xq21 microdeletion syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
choroideremia, deafness, and mental retardation:
Inheritance x-linked inheritance x-linked recessive inheritance contiguous gene syndrome


Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Eye diseases Ear diseases Endocrine diseases Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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Summaries for Choroideremia, Deafness, and Mental Retardation

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MalaCards based summary : Choroideremia, Deafness, and Mental Retardation, also known as chromosome xq21 deletion syndrome, is related to choroideremia and ayazi syndrome. An important gene associated with Choroideremia, Deafness, and Mental Retardation is DELXQ21 (Choroideremia, Deafness, And Mental Retardation). Affiliated tissues include eye, pituitary and bone, and related phenotypes are choroideremia and chorioretinal degeneration

More information from OMIM: 303110
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Related Diseases for Choroideremia, Deafness, and Mental Retardation

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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 choroideremia 31.2 POU3F4 DELXQ21
2 ayazi syndrome 11.5
3 deafness, x-linked 2 11.3
4 branchiootic syndrome 1 10.3
5 yemenite deaf-blind hypopigmentation syndrome 10.2
6 alacrima, achalasia, and mental retardation syndrome 10.2
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
8 fundus dystrophy 10.2
9 48, xxxx 10.2
10 inherited retinal disorder 10.2

Graphical network of the top 20 diseases related to Choroideremia, Deafness, and Mental Retardation:



Diseases related to Choroideremia, Deafness, and Mental Retardation
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Symptoms & Phenotypes for Choroideremia, Deafness, and Mental Retardation

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

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 choroideremia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001139
2 chorioretinal degeneration 31 hallmark (90%) HP:0200065
3 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
4 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
5 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
6 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
7 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
8 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
9 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
10 abnormal cochlea morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000375
11 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
12 progressive night blindness 58 31 frequent (33%) Frequent (79-30%) HP:0007675
13 stapes ankylosis 58 31 frequent (33%) Frequent (79-30%) HP:0000381
14 dilatated internal auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0004458
15 abnormality of the achilles tendon 58 31 frequent (33%) Frequent (79-30%) HP:0005109
16 reticular pigmentary degeneration 58 31 frequent (33%) Frequent (79-30%) HP:0007937
17 peripheral visual field loss 58 31 frequent (33%) Frequent (79-30%) HP:0007994
18 pituitary hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0008245
19 bilateral sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008619
20 ankle clonus 58 31 frequent (33%) Frequent (79-30%) HP:0011448
21 visual acuity test abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0030532
22 decreased response to growth hormone stimuation test 31 frequent (33%) HP:0000824
23 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
24 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
25 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
26 dysdiadochokinesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002075
27 renal artery stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001920
28 upper limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003484
29 seizure 31 occasional (7.5%) HP:0001250
30 intellectual disability 31 HP:0001249
31 seizures 58 Occasional (29-5%)
32 hyperreflexia 58 Frequent (79-30%)
33 ataxia 58 Frequent (79-30%)
34 hearing impairment 31 HP:0000365
35 sensorineural hearing impairment 58 Very frequent (99-80%)
36 progressive visual loss 31 HP:0000529
37 growth delay 58 Frequent (79-30%)
38 anterior hypopituitarism 58 Frequent (79-30%)
39 reduced visual acuity 58 Frequent (79-30%)
40 nyctalopia 31 HP:0000662
41 chorioretinal abnormality 58 Very frequent (99-80%)
42 constriction of peripheral visual field 31 HP:0001133
43 growth hormone deficiency 58 Frequent (79-30%)
44 choroidal degeneration 58 Very frequent (99-80%)
45 central diabetes insipidus 58 Excluded (0%)
46 anterior pituitary dysgenesis 58 Excluded (0%)
47 adrenocorticotropic hormone deficiency 58 Excluded (0%)
48 progressive sensorineural hearing impairment 31 HP:0000408
49 chorioretinal atrophy 31 HP:0000533

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Choroideremia, Deafness, and Mental Retardation

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

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Genetic Tests for Choroideremia, Deafness, and Mental Retardation

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Anatomical Context for Choroideremia, Deafness, and Mental Retardation

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

40
Eye, Pituitary, Bone, Retina
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Publications for Choroideremia, Deafness, and Mental Retardation

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Articles related to Choroideremia, Deafness, and Mental Retardation:

# Title Authors PMID Year
1
Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. 57 61
3476958 1987
2
Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA. 57
20412083 2010
3
Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21. 57
1511979 1992
4
Isolation of a candidate gene for choroideremia. 57
1549574 1992
5
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. 57
2491012 1989
6
Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. 57
2914708 1989
7
Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia. 57
3422216 1988
8
Choroideremia, obesity, and congenital deafness. 57
7258279 1981
9
A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient. 61
28630650 2017
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Variations for Choroideremia, Deafness, and Mental Retardation

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Expression for Choroideremia, Deafness, and Mental Retardation

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

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GO Terms for Choroideremia, Deafness, and Mental Retardation

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Sources for Choroideremia, Deafness, and Mental Retardation

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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