BOR2
MCID: BRN086
MIFTS: 19

Branchiootorenal Syndrome 2 (BOR2)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Branchiootorenal Syndrome 2

MalaCards integrated aliases for Branchiootorenal Syndrome 2:

Name: Branchiootorenal Syndrome 2 58 76 30 13 6 74
Bor2 58 76
Branchio-Oto-Renal Syndrome Type 2 76
Branchiootorenal Syndrome, Type 2 41
Branchio-Oto-Renal Dysplasia 2 76
Branchiootorenal Dysplasia 2 76
Bor Syndrome 2 76

Characteristics:

HPO:

33
branchiootorenal syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Branchiootorenal Syndrome 2

UniProtKB/Swiss-Prot : 76 Branchiootorenal syndrome 2: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations.

MalaCards based summary : Branchiootorenal Syndrome 2, is also known as bor2. An important gene associated with Branchiootorenal Syndrome 2 is SIX5 (SIX Homeobox 5). Affiliated tissues include skin, and related phenotypes are hearing impairment and renal insufficiency

Description from OMIM: 610896

Related Diseases for Branchiootorenal Syndrome 2

Symptoms & Phenotypes for Branchiootorenal Syndrome 2

Human phenotypes related to Branchiootorenal Syndrome 2:

33
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 HP:0000365
2 renal insufficiency 33 HP:0000083
3 preauricular skin tag 33 HP:0000384
4 renal dysplasia 33 HP:0000110
5 hemifacial hypoplasia 33 HP:0011332

Clinical features from OMIM:

610896

Drugs & Therapeutics for Branchiootorenal Syndrome 2

Search Clinical Trials , NIH Clinical Center for Branchiootorenal Syndrome 2

Genetic Tests for Branchiootorenal Syndrome 2

Genetic tests related to Branchiootorenal Syndrome 2:

# Genetic test Affiliating Genes
1 Branchiootorenal Syndrome 2 30 SIX5

Anatomical Context for Branchiootorenal Syndrome 2

MalaCards organs/tissues related to Branchiootorenal Syndrome 2:

42
Skin

Publications for Branchiootorenal Syndrome 2

Variations for Branchiootorenal Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Branchiootorenal Syndrome 2:

76
# Symbol AA change Variation ID SNP ID
1 SIX5 p.Ala158Thr VAR_032941 rs80356461
2 SIX5 p.Ala296Thr VAR_032942 rs80356462
3 SIX5 p.Gly365Arg VAR_032943 rs80356463
4 SIX5 p.Thr552Met VAR_032944 rs80356464

ClinVar genetic disease variations for Branchiootorenal Syndrome 2:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SIX5 NM_175875.4(SIX5): c.472G> A (p.Ala158Thr) single nucleotide variant Pathogenic rs80356461 GRCh37 Chromosome 19, 46271631: 46271631
2 SIX5 NM_175875.4(SIX5): c.472G> A (p.Ala158Thr) single nucleotide variant Pathogenic rs80356461 GRCh38 Chromosome 19, 45768373: 45768373
3 SIX5 NM_175875.4(SIX5): c.886G> A (p.Ala296Thr) single nucleotide variant Pathogenic rs80356462 GRCh37 Chromosome 19, 46270331: 46270331
4 SIX5 NM_175875.4(SIX5): c.886G> A (p.Ala296Thr) single nucleotide variant Pathogenic rs80356462 GRCh38 Chromosome 19, 45767073: 45767073
5 SIX5 NM_175875.4(SIX5): c.1093G> A (p.Gly365Arg) single nucleotide variant Pathogenic rs80356463 GRCh37 Chromosome 19, 46270124: 46270124
6 SIX5 NM_175875.4(SIX5): c.1093G> A (p.Gly365Arg) single nucleotide variant Pathogenic rs80356463 GRCh38 Chromosome 19, 45766866: 45766866
7 SIX5 NM_175875.4(SIX5): c.1655C> T (p.Thr552Met) single nucleotide variant Conflicting interpretations of pathogenicity rs80356464 GRCh37 Chromosome 19, 46269324: 46269324
8 SIX5 NM_175875.4(SIX5): c.1655C> T (p.Thr552Met) single nucleotide variant Conflicting interpretations of pathogenicity rs80356464 GRCh38 Chromosome 19, 45766066: 45766066
9 SIX5 NM_175875.4(SIX5): c.1261G> A (p.Val421Ile) single nucleotide variant Uncertain significance rs1057519372 GRCh38 Chromosome 19, 45766698: 45766698
10 SIX5 NM_175875.4(SIX5): c.1261G> A (p.Val421Ile) single nucleotide variant Uncertain significance rs1057519372 GRCh37 Chromosome 19, 46269956: 46269956
11 SIX5 NM_175875.4(SIX5): c.2077G> A (p.Val693Met) single nucleotide variant Benign rs2341097 GRCh38 Chromosome 19, 45765644: 45765644
12 SIX5 NM_175875.4(SIX5): c.2077G> A (p.Val693Met) single nucleotide variant Benign rs2341097 GRCh37 Chromosome 19, 46268902: 46268902

Expression for Branchiootorenal Syndrome 2

Search GEO for disease gene expression data for Branchiootorenal Syndrome 2.

Pathways for Branchiootorenal Syndrome 2

GO Terms for Branchiootorenal Syndrome 2

Sources for Branchiootorenal Syndrome 2

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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