MCID: CHR645
MIFTS: 13

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 57
Bor-Duane Hydrocephalus Contiguous Gene Syndrome 57 20 13 70
Branchio-Oto-Renal Duane Hydrocephalus Contiguous Gene Syndrome 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant contiguous gene syndrome


HPO:

31
chromosome 8q12.1-q21.2 deletion syndrome:
Inheritance autosomal dominant contiguous gene syndrome


Classifications:



External Ids:

OMIM® 57 600257
MedGen 41 C1838346
UMLS 70 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

More information 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:

31
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 HP:0000238
2 abnormality of the eye 31 HP:0000478
3 abnormality of metabolism/homeostasis 31 HP:0001939
4 abnormality of the musculature 31 HP:0003011
5 abnormality of the ear 31 HP:0000598

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Eye

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

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

# Title Authors PMID Year
1
A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene. 57
7849713 1994

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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