MCID: CHR611
MIFTS: 12

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 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
contiguous gene deletion syndrome


HPO:

33
chromosome 11p13 deletion syndrome, distal:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


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

Description 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:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 aniridia 33 occasional (7.5%) HP:0000526
2 intellectual disability 33 HP:0001249
3 seizures 33 HP:0001250
4 global developmental delay 33 HP:0001263
5 delayed speech and language development 33 HP:0000750
6 autism 33 HP:0000717
7 language impairment 33 HP:0002463

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Eye

Publications for Chromosome 11p13 Deletion Syndrome, Distal

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
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
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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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
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