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

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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 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:

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 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

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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	11.3

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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 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

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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

Bone, 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 8.05A 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 R.L....Ledbetter D.H.	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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⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Choroideremia, Deafness, and Mental Retardation (DEL)

Aliases & Classifications for Choroideremia, Deafness, and Mental Retardation

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Choroideremia, Deafness, and Mental Retardation

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:

Symptoms & Phenotypes for Choroideremia, Deafness, and Mental Retardation

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Publications for Choroideremia, Deafness, and Mental Retardation

Articles related to Choroideremia, Deafness, and Mental Retardation:

Genes for Choroideremia, Deafness, and Mental Retardation

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

Variations for Choroideremia, Deafness, and Mental Retardation

Expression 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