MCID: CHR645
MIFTS: 12

Chromosome 8q12.1-Q21.2 Deletion Syndrome

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Chromosome 8q12.1-Q21.2 Deletion Syndrome

MalaCards integrated aliases for Chromosome 8q12.1-Q21.2 Deletion Syndrome:

Name: Chromosome 8q12.1-Q21.2 Deletion Syndrome 58
Bor-Duane Hydrocephalus Contiguous Gene Syndrome 58 54 74
Branchio-Oto-Renal Duane Hydrocephalus Contiguous Gene Syndrome 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant contiguous gene syndrome


HPO:

33
chromosome 8q12.1-q21.2 deletion syndrome:
Inheritance autosomal dominant contiguous gene syndrome


Classifications:



External Ids:

OMIM 58 600257
MedGen 43 C1838346
UMLS 74 C1838346

Summaries for Chromosome 8q12.1-Q21.2 Deletion Syndrome

MalaCards based summary : Chromosome 8q12.1-Q21.2 Deletion Syndrome, is also known as bor-duane hydrocephalus contiguous gene syndrome. An important gene associated with Chromosome 8q12.1-Q21.2 Deletion Syndrome is DEL8Q12Q21 (Bor-Duane Hydrocephalus Contiguous Gene Syndrome). Affiliated tissues include eye, and related phenotypes are hydrocephalus and abnormality of the eye

Description from OMIM: 600257

Related Diseases for Chromosome 8q12.1-Q21.2 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 8q12.1-Q21.2 Deletion Syndrome

Human phenotypes related to Chromosome 8q12.1-Q21.2 Deletion Syndrome:

33
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 33 HP:0000238
2 abnormality of the eye 33 HP:0000478
3 abnormality of metabolism/homeostasis 33 HP:0001939
4 abnormality of the musculature 33 HP:0003011
5 abnormality of the ear 33 HP:0000598

Symptoms via clinical synopsis from OMIM:

58
Neuro:
hydrocephalus

Eyes:
duane syndrome

Lab:
deletion of 8q12.2-q21.2

Ears:
branchiootorenal (bor) syndrome

Muscle:
trapezius muscle aplasia

Clinical features from OMIM:

600257

Drugs & Therapeutics for Chromosome 8q12.1-Q21.2 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 8q12.1-Q21.2 Deletion Syndrome

Genetic Tests for Chromosome 8q12.1-Q21.2 Deletion Syndrome

Anatomical Context for Chromosome 8q12.1-Q21.2 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 8q12.1-Q21.2 Deletion Syndrome:

42
Eye

Publications for Chromosome 8q12.1-Q21.2 Deletion Syndrome

Variations for Chromosome 8q12.1-Q21.2 Deletion Syndrome

Expression for Chromosome 8q12.1-Q21.2 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 8q12.1-Q21.2 Deletion Syndrome.

Pathways for Chromosome 8q12.1-Q21.2 Deletion Syndrome

GO Terms for Chromosome 8q12.1-Q21.2 Deletion Syndrome

Sources for Chromosome 8q12.1-Q21.2 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
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