MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:1241
Name:BARDET-BIEDL SYNDROME 5
Definition:
Alternative IDs:DO:DOID:0110127
ParentIDs:MESH:D020788
TreeNumbers:C10.228.140.617.200/615983 |C11.270.684.624/615983 |C16.131.077.245.125/615983 |C16.320.184.125/615983
Synonyms:BBS5
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: 615983
MeSH: 615983
OMIM: 615983;
MSeqDR LSDB:  
Genes: BBS5; HBB;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001156Brachydactyly
3 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
4 HP:0003241External genital hypoplasia
5 HP:0000135Hypogonadism
NAMDC:  Hypoparathyroidism
6 HP:0007754Macular dystrophy
7 HP:0001513Obesity
8 HP:0010442PolydactylyHP:0040283
9 HP:0000510Rod-cone dystrophy
10 HP:0001159Syndactyly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_152384.3(BBS5):c.2T>A (p.Met1Lys)129880BBS5Pathogenicrs767822498RCV001002712; NMONDO:MONDO:0014434,MedGen:C3892039,OMIM:615983, Orphanet:1102170336065170336065TA2:g.170336065T>A-
NM_152384.3(BBS5):c.143-1G>C129880BBS5Likely pathogenicrs1054138918RCV000690428|RCV000763466; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014434,MedGen:C3892039,OMIM:615983, Orphanet:1102170343578170343578GC2:g.170343578G>C-
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter)129880BBS5Pathogenicrs767221160RCV000006535; NMONDO:MONDO:0014434,MedGen:C3892039,OMIM:615983, Orphanet:1102170343613170343613GA2:g.170343613G>AOMIM:603650.0004C3892039 615983 Bardet-Biedl syndrome 5;
NM_152384.3(BBS5):c.209-2A>G129880BBS5Pathogenicrs1477098739RCV000678526; NMONDO:MONDO:0014434,MedGen:C3892039,OMIM:615983, Orphanet:1102170344314170344314AG2:g.170344314A>G-
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)129880BBS5Pathogenicrs121908581RCV000006536|RCV000787535; NMONDO:MONDO:0014434,MedGen:C3892039,OMIM:615983, Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:1102170344321170344321GA2:g.170344321G>AOMIM:603650.0005,ClinGen:CA253784,UniProtKB:Q8N3I7#VAR_066290
NM_152384.3(BBS5):c.258+2T>C129880BBS5Pathogenicrs1559122157RCV000678527; NMONDO:MONDO:0014434,MedGen:C3892039,OMIM:615983, Orphanet:1102170344367170344367TC2:g.170344367T>C-
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter)129880BBS5Pathogenicrs772757329RCV000638356|RCV001250528; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014434,MedGen:C3892039,OMIM:615983, Orphanet:1102170344503170344503CT2:g.170344503C>TClinGen:CA1956177C0752166 Bardet-Biedl syndrome;
NM_152384.3(BBS5):c.386+1G>T129880BBS5Likely pathogenicrs1559122277RCV000785901; NMONDO:MONDO:0014434,MedGen:C3892039,OMIM:615983, Orphanet:1102170344625170344625GT2:g.170344625G>T-
NM_152384.3(BBS5):c.425T>A (p.Leu142Ter)129880BBS5Pathogenicrs1574339529RCV000006533; NMONDO:MONDO:0014434,MedGen:C3892039,OMIM:615983, Orphanet:1102170349422170349422TA2:g.170349422T>AOMIM:603650.0002C3892039 615983 Bardet-Biedl syndrome 5;
NM_152384.3(BBS5):c.522+3A>G129880BBS5Pathogenicrs587777828RCV000006532; NMONDO:MONDO:0014434,MedGen:C3892039,OMIM:615983, Orphanet:1102170349522170349522AG2:g.170349522A>GClinGen:CA253783,OMIM:603650.0001
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala)129880BBS5Pathogenicrs121908582RCV000006537; NMONDO:MONDO:0014434,MedGen:C3892039,OMIM:615983, Orphanet:1102170350275170350275AG2:g.170350275A>GClinGen:CA253785,UniProtKB:Q8N3I7#VAR_072380,OMIM:603650.0006C3892039 615983 Bardet-Biedl syndrome 5;
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp)129880BBS5Uncertain significancers143113298RCV000463506|RCV000765535|RCV001090461; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014434,MedGen:C3892039,OMIM:615983, Orphanet:110|MedGen:CN5172022170356065170356065AG2:g.170356065A>GClinGen:CA1956310
NM_152384.3(BBS5):c.966dup (p.Ala323fs)129880BBS5Likely pathogenicrs1553529427RCV000502319; NMONDO:MONDO:0014434,MedGen:C3892039,OMIM:615983, Orphanet:1102170361030170361031CCT2:g.170361030_170361031insTClinGen:CA645372369
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