MCID: CHR397
MIFTS: 21

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 57 29 13 72
Aldred Syndrome 59 72
Retinitis Pigmentosa and Intellectual Disability Due to Xp11.3 Microdeletion 59
Retinitis Pigmentosa and Intellectual Disability Due to Monosomy Xp11.3 59
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome 59
Retinitis Pigmentosa and Intellectual Disability Due to Del 59
Mental Retardation, X-Linked, with Retinitis Pigmentosa 57

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
chromosome xp11.3 deletion syndrome:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300578
ICD10 via Orphanet 34 H35.5
UMLS via Orphanet 73 C0795873
Orphanet 59 ORPHA85332
MedGen 42 C1845136
UMLS 72 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 and obsolete: retinitis pigmentosa and intellectual disability due to monosomy xp11.3. 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:

# Related Disease Score Top Affiliating Genes
1 aldred syndrome 12.5
2 obsolete: retinitis pigmentosa and intellectual disability due to monosomy xp11.3 11.8

Symptoms & Phenotypes for Chromosome Xp11.3 Deletion Syndrome

Human phenotypes related to Chromosome Xp11.3 Deletion Syndrome:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 iris hypopigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007730
3 nyctalopia 32 occasional (7.5%) HP:0000662
4 microcephaly 32 HP:0000252
5 visual impairment 32 HP:0000505
6 short stature 32 HP:0004322
7 blindness 32 HP:0000618
8 rod-cone dystrophy 32 HP:0000510

Symptoms via clinical synopsis from OMIM:

57
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:

41
Eye, Retina

Publications for Chromosome Xp11.3 Deletion Syndrome

Articles related to Chromosome Xp11.3 Deletion Syndrome:

# Title Authors PMID Year
1
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent? 8
22126752 2012
2
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. 8
16385466 2006
3
A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred. 8
16419135 2006
4
Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa. 8
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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