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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
contiguous gene deletion syndrome


HPO:

32
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 autism

Description from OMIM: 616902

Related Diseases for Chromosome 11p13 Deletion Syndrome, Distal

Symptoms & Phenotypes for Chromosome 11p13 Deletion Syndrome, Distal

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
aniridia (in some patients)
congenital eye malformations (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autism

Neurologic Central Nervous System:
developmental delay
intellectual disability
speech and language delay


Clinical features from OMIM:

616902

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 aniridia 32 occasional (7.5%) HP:0000526
2 autism 32 HP:0000717
3 delayed speech and language development 32 HP:0000750
4 intellectual disability 32 HP:0001249
5 seizures 32 HP:0001250
6 global developmental delay 32 HP:0001263
7 language impairment 32 HP:0002463

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:

41
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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