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10 Possible Causes for Mutation in the BBIP1 Gene

  • Hereditary Pancreatitis

    To date, mutations in more than 20 different genes have been described as being responsible for BBS ( ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B[centogene.com]

  • Vaginal Atresia

    Despite the great number of genes already identified as being associated with BBS, gene mutations have not been identified in an estimated 20-30 percent of individuals with[rarediseases.org] ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), BBS12,MKS1 (BBS13), CEP290 (BBS14), WDPCP (BBS15),SDCCAG8 (BBS16), LZTFL1 (BBS17), BBIP1[rarediseases.org]

  • Central Polydactyly of Toes

    Despite the great number of genes already identified as being associated with BBS, gene mutations have not been identified in an estimated 20-30 percent of individuals with[rarediseases.org] ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), BBS12,MKS1 (BBS13), CEP290 (BBS14), WDPCP (BBS15),SDCCAG8 (BBS16), LZTFL1 (BBS17), BBIP1[rarediseases.org]

  • Retinitis Pigmentosa with Situs Inversus

    […] in the BBIP1 gene ( OMIM ) on 10q25; BBS19 ( OMIM ), by mutation in the IFT27 gene ( OMIM ) on 22q12; BBS20 ( OMIM ), by mutation in the IFT74 gene ( OMIM ) on 9p21; and[mendelian.co] Despite the great number of genes already identified as being associated with BBS, gene mutations have not been identified in an estimated 20-30 percent of individuals with[rarediseases.org] ( OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 ( OMIM ); BBS17 ( OMIM ), by mutation in the LZTFL1 gene ( OMIM ) on 3p21; BBS18 ( OMIM ), by mutation[mendelian.co]

  • Marfanoid Habitus with Situs Inversus

    […] in the BBIP1 gene ( OMIM ) on 10q25; BBS19 ( OMIM ), by mutation in the IFT27 gene ( OMIM ) on 22q12; BBS20 ( OMIM ), by mutation in the IFT74 gene ( OMIM ) on 9p21; and[mendelian.co] […] in the BBSome subunit BBIP1 (BBS18) Conclusions These findings identify BBIP1 as the 18th BBS gene (BBS18) and suggest that BBSome assembly may represent a unifying pathomechanism[medworm.com] ( OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 ( OMIM ); BBS17 ( OMIM ), by mutation in the LZTFL1 gene ( OMIM ) on 3p21; BBS18 ( OMIM ), by mutation[mendelian.co]

  • Trypsinogen Deficiency

    To date, mutations in more than 20 different genes have been described as being responsible for BBS ( ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B[centogene.com]

  • Biemond Syndrome Type 2

    To date, mutations in more than 20 different genes have been described as being responsible for BBS ( ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B[centogene.com] Despite the great number of genes already identified as being associated with BBS, gene mutations have not been identified in an estimated 20-30 percent of individuals with[rarediseases.org] ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), BBS12,MKS1 (BBS13), CEP290 (BBS14), WDPCP (BBS15),SDCCAG8 (BBS16), LZTFL1 (BBS17), BBIP1[rarediseases.org]

  • Hirschsprung Disease - Deafness - Polydactyly Syndrome

    Despite the great number of genes already identified as being associated with BBS, gene mutations have not been identified in an estimated 20-30 percent of individuals with[rarediseases.org] ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), BBS12,MKS1 (BBS13), CEP290 (BBS14), WDPCP (BBS15),SDCCAG8 (BBS16), LZTFL1 (BBS17), BBIP1[rarediseases.org]

  • Bardet-Biedl Syndrome 10

    Despite the great number of genes already identified as being associated with BBS, gene mutations have not been identified in an estimated 20-30 percent of individuals with[rarediseases.org] ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), BBS12,MKS1 (BBS13), CEP290 (BBS14), WDPCP (BBS15),SDCCAG8 (BBS16), LZTFL1 (BBS17), BBIP1[rarediseases.org]

  • Bardet-Biedl Syndrome Typ 5

    Despite the great number of genes already identified as being associated with BBS, gene mutations have not been identified in an estimated 20-30 percent of individuals with[rarediseases.org] ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), BBS12,MKS1 (BBS13), CEP290 (BBS14), WDPCP (BBS15),SDCCAG8 (BBS16), LZTFL1 (BBS17), BBIP1[rarediseases.org]

Further symptoms