MCID: CHR645
MIFTS: 14

Chromosome 8q12.1-Q21.2 Deletion Syndrome

Categories: Rare diseases, Nephrological 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 53 13 73
Branchio-Oto-Renal Duane Hydrocephalus Contiguous Gene Syndrome 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant contiguous gene syndrome


HPO:

32
chromosome 8q12.1-q21.2 deletion syndrome:
Inheritance autosomal dominant contiguous gene syndrome


Classifications:



External Ids:

OMIM 57 600257
MedGen 42 C1838346
UMLS 73 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 abnormality of the eye 32 HP:0000478
3 abnormality of metabolism/homeostasis 32 HP:0001939
4 abnormality of the musculature 32 HP:0003011
5 abnormality of the ear 32 HP:0000598

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:

41
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 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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