Choroideremia, Deafness, and Mental Retardation disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CHR506 MIFTS: 26	Choroideremia, Deafness, and Mental Retardation Categories: Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases
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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:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Eye diseases Ear diseases Endocrine diseases Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare eye diseases

Rare otorhinolaryngological diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 303110

UMLS via Orphanet ⁷⁵ C1844836

Orphanet ⁶⁰ ORPHA1435

MedGen ⁴³ C3551019

UMLS ⁷⁴ C1844836 C3551019

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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

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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
1	ayazi syndrome	12.4
2	choroideremia	11.7
3	deafness, x-linked 2	11.4

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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

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Drugs & Therapeutics for Choroideremia, Deafness, and Mental Retardation

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

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

⁴²

Pituitary, Bone, Testes, Eye, Retina

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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 )	Liang S...Yu D	2017
2	Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. ( 3476958 )	Nussbaum RL...Ledbetter DH	1987

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Genes for Choroideremia, Deafness, and Mental Retardation

Genes related to Choroideremia, Deafness, and Mental Retardation (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DELXQ21	Choroideremia, Deafness, And Mental Retardation	Genetic Locus	508.67	Structural variation ⁵⁸ GeneCards inferred via : Gene name (show sections)
2	POU3F4	POU Class 3 Homeobox 4	Protein Coding	350	Causative germline mutation ⁶⁰

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Variations for Choroideremia, Deafness, and Mental Retardation

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Expression for Choroideremia, Deafness, and Mental Retardation

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

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⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia