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 57 75 29 13 6 73
Bor2 57 75
Branchio-Oto-Renal Syndrome Type 2 75
Branchiootorenal Syndrome, Type 2 40
Branchio-Oto-Renal Dysplasia 2 75
Branchiootorenal Dysplasia 2 75
Bor Syndrome 2 75

Characteristics:

HPO:

32
branchiootorenal syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Branchiootorenal Syndrome 2

UniProtKB/Swiss-Prot : 75 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

Clinical features from OMIM:

610896

Human phenotypes related to Branchiootorenal Syndrome 2:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 renal insufficiency 32 HP:0000083
3 preauricular skin tag 32 HP:0000384
4 renal dysplasia 32 HP:0000110
5 hemifacial hypoplasia 32 HP:0011332

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 29 SIX5

Anatomical Context for Branchiootorenal Syndrome 2

MalaCards organs/tissues related to Branchiootorenal Syndrome 2:

41
Skin

Publications for Branchiootorenal Syndrome 2

Variations for Branchiootorenal Syndrome 2

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

75
# 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 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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