MCID: CHR397
MIFTS: 19

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 58 30 74
Aldred Syndrome 60 74
Retinitis Pigmentosa and Intellectual Disability Due to Xp11.3 Microdeletion 60
Retinitis Pigmentosa and Intellectual Disability Due to Monosomy Xp11.3 60
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome 60
Retinitis Pigmentosa and Intellectual Disability Due to Del 60
Mental Retardation, X-Linked, with Retinitis Pigmentosa 58

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
Inheritance:
x-linked recessive


HPO:

33
chromosome xp11.3 deletion syndrome:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 58 300578
ICD10 via Orphanet 35 H35.5
UMLS via Orphanet 75 C0795873
Orphanet 60 ORPHA85332
MedGen 43 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 related phenotypes are intellectual disability and iris hypopigmentation

Description 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 12.2

Symptoms & Phenotypes for Chromosome Xp11.3 Deletion Syndrome

Human phenotypes related to Chromosome Xp11.3 Deletion Syndrome:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 iris hypopigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007730
3 nyctalopia 33 occasional (7.5%) HP:0000662
4 microcephaly 33 HP:0000252
5 visual impairment 33 HP:0000505
6 short stature 33 HP:0004322
7 blindness 33 HP:0000618
8 rod-cone dystrophy 33 HP:0000510

Symptoms via clinical synopsis from OMIM:

58
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 30

Anatomical Context for Chromosome Xp11.3 Deletion Syndrome

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

42
Eye

Publications for Chromosome Xp11.3 Deletion Syndrome

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....