MCID: CHR611
MIFTS: 11

Chromosome 11p13 Deletion Syndrome, Distal

Aliases & Classifications for Chromosome 11p13 Deletion Syndrome, Distal

MalaCards integrated aliases for Chromosome 11p13 Deletion Syndrome, Distal:

Name: Chromosome 11p13 Deletion Syndrome, Distal 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
contiguous gene deletion syndrome

Inheritance:
autosomal dominant


HPO:

31
chromosome 11p13 deletion syndrome, distal:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Summaries for Chromosome 11p13 Deletion Syndrome, Distal

MalaCards based summary : Chromosome 11p13 Deletion Syndrome, Distal An important gene associated with Chromosome 11p13 Deletion Syndrome, Distal is DEL11P13 (Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome). Affiliated tissues include eye, and related phenotypes are aniridia and intellectual disability

More information from OMIM: 616902

Related Diseases for Chromosome 11p13 Deletion Syndrome, Distal

Symptoms & Phenotypes for Chromosome 11p13 Deletion Syndrome, Distal

Human phenotypes related to Chromosome 11p13 Deletion Syndrome, Distal:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 aniridia 31 occasional (7.5%) HP:0000526
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 delayed speech and language development 31 HP:0000750
5 autism 31 HP:0000717
6 language impairment 31 HP:0002463
7 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
developmental delay
speech and language delay

Head And Neck Eyes:
aniridia (in some patients)
congenital eye malformations (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autism

Clinical features from OMIM®:

616902 (Updated 05-Apr-2021)

Drugs & Therapeutics for Chromosome 11p13 Deletion Syndrome, Distal

Search Clinical Trials , NIH Clinical Center for Chromosome 11p13 Deletion Syndrome, Distal

Genetic Tests for Chromosome 11p13 Deletion Syndrome, Distal

Anatomical Context for Chromosome 11p13 Deletion Syndrome, Distal

MalaCards organs/tissues related to Chromosome 11p13 Deletion Syndrome, Distal:

40
Eye

Publications for Chromosome 11p13 Deletion Syndrome, Distal

Articles related to Chromosome 11p13 Deletion Syndrome, Distal:

# Title Authors PMID Year
1
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. 57
26010655 2015

Variations for Chromosome 11p13 Deletion Syndrome, Distal

Expression for Chromosome 11p13 Deletion Syndrome, Distal

Search GEO for disease gene expression data for Chromosome 11p13 Deletion Syndrome, Distal.

Pathways for Chromosome 11p13 Deletion Syndrome, Distal

GO Terms for Chromosome 11p13 Deletion Syndrome, Distal

Sources for Chromosome 11p13 Deletion Syndrome, Distal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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