MCID: CHR397
MIFTS: 20

Chromosome Xp11.3 Deletion Syndrome

Categories: Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome Xp11.3 Deletion Syndrome

MalaCards integrated aliases for Chromosome Xp11.3 Deletion Syndrome:

Name: Chromosome Xp11.3 Deletion Syndrome 56 29 13 71
Aldred Syndrome 58 71
Retinitis Pigmentosa and Intellectual Disability Due to Xp11.3 Microdeletion 58
Retinitis Pigmentosa and Intellectual Disability Due to Monosomy Xp11.3 58
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome 58
Retinitis Pigmentosa and Intellectual Disability Due to Del 58
Mental Retardation, X-Linked, with Retinitis Pigmentosa 56

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
Inheritance:
x-linked recessive


HPO:

31
chromosome xp11.3 deletion syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 300578
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C0795873
Orphanet 58 ORPHA85332
MedGen 41 C1845136
UMLS 71 C0795873 C1845136

Summaries for Chromosome Xp11.3 Deletion Syndrome

MalaCards based summary : Chromosome Xp11.3 Deletion Syndrome, also known as aldred syndrome, is related to aldred syndrome. An important gene associated with Chromosome Xp11.3 Deletion Syndrome is DELXP11.3 (Chromosome Xp11.3 Deletion Syndrome). Affiliated tissues include eye and retina, and related phenotypes are intellectual disability and iris hypopigmentation

More information from OMIM: 300578

Related Diseases for Chromosome Xp11.3 Deletion Syndrome

Diseases related to Chromosome Xp11.3 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 aldred syndrome 12.6

Symptoms & Phenotypes for Chromosome Xp11.3 Deletion Syndrome

Human phenotypes related to Chromosome Xp11.3 Deletion Syndrome:

58 31 (showing 8, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 iris hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007730
3 nyctalopia 31 occasional (7.5%) HP:0000662
4 microcephaly 31 HP:0000252
5 visual impairment 31 HP:0000505
6 short stature 31 HP:0004322
7 blindness 31 HP:0000618
8 rod-cone dystrophy 31 HP:0000510

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
mental retardation, mild to moderate
normal intelligence in carrier females

Growth Height:
short stature

Head And Neck Eyes:
retinitis pigmentosa, severe, early-onset
decreased visual acuity, in some female carriers
night blindness, in some female carriers

Clinical features from OMIM:

300578

Drugs & Therapeutics for Chromosome Xp11.3 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome Xp11.3 Deletion Syndrome

Genetic Tests for Chromosome Xp11.3 Deletion Syndrome

Genetic tests related to Chromosome Xp11.3 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome Xp11.3 Deletion Syndrome 29

Anatomical Context for Chromosome Xp11.3 Deletion Syndrome

MalaCards organs/tissues related to Chromosome Xp11.3 Deletion Syndrome:

40
Eye, Retina

Publications for Chromosome Xp11.3 Deletion Syndrome

Articles related to Chromosome Xp11.3 Deletion Syndrome:

(showing 4, show less)
# Title Authors PMID Year
1
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent? 56
22126752 2012
2
A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred. 56
16419135 2006
3
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. 56
16385466 2006
4
Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa. 56
7977353 1994

Variations for Chromosome Xp11.3 Deletion Syndrome

Expression for Chromosome Xp11.3 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome Xp11.3 Deletion Syndrome.

Pathways for Chromosome Xp11.3 Deletion Syndrome

GO Terms for Chromosome Xp11.3 Deletion Syndrome

Sources for Chromosome Xp11.3 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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