Disease #04212 (BBS (Bardet-Biedl syndrome (BBS)))

Official abbreviation BBS
Name Bardet-Biedl syndrome (BBS)
OMIM ID -
Inheritance -
Individuals reported having this disease 282
Phenotype entries for this disease 240
Associated with 4 genes ARL6, BBS9, C8orf37, IFT74
Associated tissues -
Disease features -
Remarks -
Date created 2015-02-27 19:01:43 +01:00 (CET)
Date last edited N/A


Individuals

282 entries on 3 pages. Showing entries 1 - 100.
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00034031 - PubMed: Waters 2015, Journal: Waters 2015 - - - - - - - - - BBS - BBS10, CENPF BBS10, CENPF 3 1 Johan den Dunnen
00034032 - PubMed: Waters 2015, Journal: Waters 2015 - - - - - - - - - BBS - BBS12, CENPF BBS12, CENPF 3 1 Johan den Dunnen
00034033 - PubMed: Waters 2015, Journal: Waters 2015 - - - - - - - - - BBS - BBS12, CENPF BBS12, CENPF 3 1 Johan den Dunnen
00034034 - PubMed: Waters 2015, Journal: Waters 2015 - - - - - - - - - BBS - BBS10, CENPF BBS10, CENPF 2 1 Johan den Dunnen
00046459 - - - - - Russian Federation - - - - - BBS - BBS7 BBS7 1 1 Evgeny Suspitsin
00059888 - - 2-generation family, 3 affecteds - yes Saudi Arabia - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00059889 - - 2-generation family, 3 affecteds - yes Saudi Arabia - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00059890 - - 2-generation family, 3 affecteds - yes Pakistan - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00059891 - - 2-generation family, 3 affecteds - yes - Africa, North - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00059892 - - - - yes Lebanon - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00059893 Fam57009 PubMed: Smaoui 2006 - - yes Tunisia - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00059894 Fam57006 PubMed: Smaoui 2006 - - yes Tunisia - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00059895 Fam57019 PubMed: Smaoui 2006 - - yes Tunisia - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00059896 - PubMed: Smaoui 2006 - - yes Tunisia - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00059924 - - Previous tests done: BBS-A - - - - - - - - BBS - BBS9 BBS9 1 1 Julia Lopez
00060174 - - - - no - white - - - - BBS - TTC8 TTC8 2 1 Ivo F.A.C. Fokkema
00060175 - PubMed: Smaoui 2006 - - yes Tunisia - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060176 - PubMed: Smaoui 2006 - - yes Tunisia - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060177 - PubMed: Smaoui 2006 - - yes Tunisia - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060179 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060180 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060181 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060182 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060183 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060184 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060185 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060186 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060187 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060188 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060189 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060190 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060191 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060192 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060193 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060194 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060195 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060196 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060197 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060198 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060199 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060200 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060201 - - - - - - - - - - - BBS - TTC8 TTC8 1 1 Ivo F.A.C. Fokkema
00060204 - - 1 familie, 3 patients M yes Spain Hispanic - - - - BBS retinitis pigmentosa, postaxial polydactyly, weight gain anomaly, learning disabilities, kidney cysts, poor coordination MKKS MKKS 2 1 María González-del Pozo
00063828 - - - M yes Pakistan - - - - - BBS CRD/RP, Polydactyly, Hypogonadism. Renal parenchymal disease; deceased due to renal failure. ARL6 ARL6 1 1 Muhammad Ajmal
00063829 - - - M yes Pakistan - - - - - BBS CRD/RP, Polydactyly, Hypogonadism, no renal disease ARL6 ARL6 1 1 Muhammad Ajmal
00063831 - - - M yes Pakistan - - - - - BBS CRD/RP, intellectual disability, hypogonadism, bilateral renal calculi, Speech disability BBS5 BBS5 1 1 Muhammad Ajmal
00063832 - - - F yes Pakistan - - - - - BBS CRD/RP, polydactyly, hypogonadism, developmental delay, irregular menstruation, low progesterone levels, diabetes, borderline hepatomegaly with fatty infiltration, abnormally high cholesterol level, elevated liver enzymes BBS5 BBS5 1 1 Muhammad Ajmal
00063833 - - - M yes Pakistan - - - - - BBS CRD/RP, polydactyly, obesity, intellectual disability, hypogonadism. Left kidney: focal caliectasis in upper and interpolar region. Elevated liver enzymes, hypodontia, speech disability, gynaecomastia. BBS9 BBS9 1 1 Muhammad Ajmal
00063834 - - - M yes Pakistan - - - - - BBS BBS-Like syndrome, CRD/RP, obesity, hypogonadism, intellectual disability, gynaecomastia, cerebral atrophy CEP164 CEP164 1 1 Muhammad Ajmal
00063835 - - - F yes Pakistan - - - - - BBS BBS-Like syndrome, CRD/RP, obesity, hypogonadism, irregular menstruation, severe depression and psychosis at 26 years CEP164 CEP164 1 1 Muhammad Ajmal
00088150 - - 4-generation family, 1 affected - - Spain - - - - - BBS - BBS1 BBS1 1 1 Global Variome, with Curator vacancy
00155384 - Sharon, submitted - M yes Israel Morocco;Jewish - - - - BBS - BBS1 BBS1 1 1 Dror Sharon
00155389 - Sharon, submitted - M yes Israel Arab-Muslim - - - - BBS - BBS4 BBS4 1 1 Dror Sharon
00155390 - Sharon, submitted - M yes Israel Arab-Muslim - - - - BBS - BBS9 BBS9 1 2 Dror Sharon
00165196 - - - - - - - - - - - BBS - BBS2 BBS2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00165229 - - - F yes Spain - - - - - BBS - BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, MKKS MKKS 1 1 Sheila Castro-Sánchez
00165230 - - - M no Spain - - - - - BBS - - BBS5 2 1 Sheila Castro-Sánchez
00207813 30484961-Fam PubMed: Tavares 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Canada - - - - - BBS best corrected visual acuity right, left eye (14y): 20/400, 20/600; anterior segment: normal; retinal exam (15y): macular atrophy, vessel attenuation, bone spicules; electroretinogram amplitude (1y): severe rod-cone dystrophy; neurological findings (13y): absent seizures, autism, normal brain magnetic resonance imaging, head circumference: 57 cm; kidney (age 13y): normal structure and function; liver (age 13y): fatty infiltration, normal transaminases; lipidsa (age 13y) cholesterol 6.4 mmol/l (elevated); triglyceride: 8.63 mmol/L (elevated); heart: situs solitus, levocardia; spleen: mild splenomegaly; digits: postaxial polydactyly in 3 limbs; weight: BMI 38.9; menarche: 13y; development: delayed; other: recurrent ear infections, strabism BBS1 BBS1 2 1 Johan den Dunnen
00213607 - PubMed: Chiang 2006, OMIM:var0002 4 affecteds (2M, 2F) - - Israel Bedouin Arab - - - - BBS - TRIM32 TRIM32 2 4 Johan den Dunnen
00265912 FamPatIII1 PubMed: Shaukat 2019 - F yes Pakistan - - - - - BBS height 139cm (-3.5 SD), polydactyly, walking difficulties, speech impairment, blindness, no macrocephaly, no alopecia, no scoliosis, no cutis laxa, no umbilical hernia, no facial coarsening BBS7 BBS7, RIN2 2 1 Sadaf Naz
00265913 FamPatIII3 PubMed: Shaukat 2019 - M yes Pakistan - - - - - BBS height 126cm (-0.1 SD), no polydactyly, walking difficulties, speech impairment, blindness, no macrocephaly, no alopecia, no scoliosis, no cutis laxa, no umbilical hernia, no facial coarsening BBS7 BBS7, RIN2 2 1 Sadaf Naz
00358803 KK047-05 PubMed: Lindstrand 2016 - M yes United States - - - - - BBS see paper; ... BBS2 BBS2 1 1 LOVD
00358804 DM034-004 PubMed: Lindstrand 2016 - M no United States - - - - - BBS see paper; ... ARL6 ARL6, CRYBG3 1 1 LOVD
00358805 KK11-04 PubMed: Lindstrand 2016 - M yes United States - - - - - BBS see paper; ... ARL6, SDCCAG8 ARL6, SDCCAG8 2 1 LOVD
00358806 32/3 PubMed: Lindstrand 2016 - M no United States - - - - - BBS see paper; ... BBS4 BBS4 1 1 LOVD
00358807 AR800-03 PubMed: Lindstrand 2016 - M no United States - - - - - BBS see paper; ... BBS2, BBS4, MKKS BBS2, BBS4, MKKS 3 1 LOVD
00358808 AR400-03 PubMed: Lindstrand 2016 - F no United States - - - - - BBS see paper; ... ALMS1, BBS4, BBS9 ALMS1, BBS4, BBS9 3 1 LOVD
00358809 RC2-0311 PubMed: Lindstrand 2016 - M yes United States - - - - - BBS see paper; ... BBS2, NPHP1 BBS2, NPHP1 2 1 LOVD
00358810 AR380-03 PubMed: Lindstrand 2016 - F no United States - - - - - BBS see paper; ... BBS1 BBS1 2 1 LOVD
00358811 AR888-0311 PubMed: Lindstrand 2016 - M no United States - - - - - BBS see paper; ... BBS1, BBS4, BBS5, BBS7, NPHP1 BBS1, BBS4, BBS5, BBS7, DPP3, NPHP1 6 1 LOVD
00358812 AR240-03 PubMed: Lindstrand 2016 - F no United States - - - - - BBS see paper; ... BBS1, BBS5 BBS1, BBS5, ZDHHC24 3 1 LOVD
00358813 AR246-03 PubMed: Lindstrand 2016 - M no United States - - - - - BBS see paper; ... BBS1, BBS10 BBS1, BBS10, ZDHHC24 3 1 LOVD
00358814 AR634-03 PubMed: Lindstrand 2016 - F no United States - - - - - BBS see paper; ... BBS4, BBS7, IFT74 BBS4, BBS7, IFT74 4 1 LOVD
00358815 AR672-04 PubMed: Lindstrand 2016 - M no United States - - - - - BBS see paper; ... IFT74 IFT74 2 1 LOVD
00358816 AR883-04 PubMed: Lindstrand 2016 - M no United States - - - - - BBS see paper; ... BBS10, BBS5 BBS10, BBS5 3 1 LOVD
00358817 44/311 PubMed: Lindstrand 2016 - M no United States - - - - - BBS see paper; ... BBS7, CEP290, NPHP1 BBS7, CEP290, NPHP1 4 1 LOVD
00358818 AR704-0311 PubMed: Lindstrand 2016 - F no United States - - - - - BBS see paper; ... BBS10, NPHP1, TTC8 BBS10, NPHP1, TTC8 3 1 LOVD
00358819 AR811-03 PubMed: Lindstrand 2016 - M yes United States - - - - - BBS see paper; ... NPHP4 KCNAB2, MIR4689 2 1 LOVD
00378069 IR_SH_0052 - - M - Korea, South (Republic) - - - - - BBS HP:0000662 HP:0000613 HP:0001129 HP:0000639 HP:0001483, HP:0000551, HP:0001288, HP:0000007, HP:0032122, HP:0001162, HP:0001513 - BBS9 2 1 Jinu Han
00379538 IR_SS_0061 - - M - Korea, South (Republic) - - - - - BBS HP:0000662 HP:0000613 HP:0001129 HP:0000639 HP:0000551, HP:0001288, HP:0000365, HP:0000007, HP:0001513, HP:0010442 - BBS10 2 1 Jinu Han
00379666 IR_GH_0051 - - F - Korea, South (Republic) - - - - - BBS HP:0000662, HP:0001133, HP:0000639, HP:0000551, HP:0000365, HP:0000007, HP:0001513, HP:0010442 - BBS1 2 1 Jinu Han
00404115 family PubMed: Chiang 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Israel Bedouin - - - - BBS see paper; ... ARL6 ARL6 1 1 Johan den Dunnen
00404117 NF-B2 PubMed: Fan 2004 3-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Canada Newfoundland - - - - BBS see paper; ... ARL6 ARL6 1 5 Johan den Dunnen
00404118 KK29 PubMed: Fan 2004 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - BBS see paper; ... ARL6 ARL6 1 2 Johan den Dunnen
00404119 AR390 PubMed: Fan 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - BBS see paper; ... ARL6 ARL6 1 1 Johan den Dunnen
00404120 PB140 PubMed: Fan 2004 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F;M - Ireland - - - - - BBS see paper; ... ARL6 ARL6 1 3 Johan den Dunnen
00404268 - PubMed: Alvarez-Satta 2017 2-generation family, affected father/child - - Spain - - - - - BBS - BBS2 BBS2 1 2 Johan den Dunnen
00412600 IV:3 PubMed: Shaefer 2015 brother of IV:5 M yes - Melanesian - - - - BBS walked after the age of 2y; no polydactyly but a syndactyly between the second and the third toes; retinitis pigmentosa suspected at 3y7m months because of hemeralopia, confirmed at 8y on ophthalmologic examination; early overweight, at last medical examination -18y:weight: 116.5 kg (>+3SD) for 163 cm ( -2SD); learning difficulties that implied the need for special education; asthma; X-rays of the skeleton: no anomaly of the thorax, no polydactyly or brachydactyly; auditory evoked potential and audiogram: no deafness; cerebral magnetic resonance imaging and electroencephalogram: normal; renal ultrasound: no renal or hepatic anomalies, normal renal and hepatic functions and no diabetes IFT172 IFT172 1 1 LOVD
00412601 IV:5 PubMed: Shaefer 2015 brother of IV:3 M yes - Melanesian - - - - BBS delayed development and obesity; 2y: hypogonadism with micropenis and bilateral cryptorchidism; 3y: retinitis pigmentosa; 13y weight: 111 kg (>+3SD) for 157 cm (+0.5SD), orthopedic and respiratory complications; X-rays of the skeleton: postaxial polydactyly of the hand and the preaxial polydactyly of the feet with duplication of the metatarsus and the phalanges without other abnormality; brain magnetic resonance imaging, abdominal ultrasound, and biological renal, hepatic and pancreatic functions: normal IFT172 IFT172 1 1 LOVD
00412603 Family 1, II.1 PubMed: Bujakowska 2015 - F - - white - - - - BBS retinal disease: retinitis pigmentosa with atrophic changes in the macula; polydactyly/skeletal anomalies: bilateral post-axialcutaneous polydactyly; liver disease: elevated transaminases; obesity (BMI = 43.2); other features: hypercholesterolemia, pancreatitis, speech abnormalities in childhood (initial consonant omission) IFT172 IFT172, KRTCAP3 2 1 LOVD
00412604 Family 1, II.2 PubMed: Bujakowska 2015 - F - - white - - - - BBS retinal disease: retinitis pigmentosa with granularities and cysts in the macula; polydactyly/skeletal anomalies: not detected; liver disease: elevated transaminases; obesity (BMI = 36.9); other features: speech abnormalities in childhood (initial consonant omission) IFT172 IFT172, KRTCAP3 2 1 LOVD
00412660 FamApatII:1 PubMed: Tatour 2017 sister of II:1 F yes Israel Arabic - - - - BBS 14y: best corrected visual acuity right/left eye: 0.6 / 0.6; full field electroretinography (right eye only), light adapted: non-recordable, dark adapted: non-recordable; flash visual evoked potentials: abnormal; additional ocular findings: strabismus both eyes; extra-ocular findings: intellectual disability, attention deficit/hyperactivity disorder; 23y: best corrected visual acuity right/left eye: 0.1 / 0.1; ophthalmoscopic findings: optic disc pallor, attenuated retinal blood vessels, bone-spicule pigmentation SCAPER SCAPER 1 1 LOVD
00412669 P1:V5 PubMed: Wormser 2019 pedigree 1 F yes Israel Bedouin - - - - BBS strabismus, uncorrected visual acuity right, left eye: light perception, hand motion; retinitis pigmentosa - nyctalopia 10y; pale optic disk, attenuated vessels, bone spicules in mid-periphery, hypopigmented areas, posterior subcapsular cataract; intellectual disability: moderate; short stature: yes, 145 cm; weight (kg): 78; obesity - calculated BMI kg/m2: 37.1; genu valgum; varum SCAPER SCAPER 1 1 LOVD
00412670 P1:V6 PubMed: Wormser 2019 pedigree 1 M yes Israel Bedouin - - - - BBS strabismus, best corrected visual acuity right, left eye: 6/12, 6/12; retinitis pigmentosa - nyctalopia 15y; pale optic disk, attenuated vessels, bone spicules in mid-periphery, hypopigmented spots, posterior subcapsular cataract and nuclear, punctate; intellectual disability: moderate; short stature: yes, 157 cm; weight (kg): 78; obesity - calculated BMI kg/m2: 31.6; genu valgum; varum SCAPER SCAPER 1 1 LOVD
00412671 P1:V7 PubMed: Wormser 2019 pedigree 1 M yes Israel Bedouin - - - - BBS strabismus, uncorrected visual acuity: 6/60, 6/120; retinitis pigmentosa - nyctalopia 13y; pale optic disk, attenuated vessels, bone spicules in mid-periphery, hypopigmented spots, posterior subcapsular cataract; intellectual disability: moderate; short stature: yes, 163 cm; weight (kg): 98; obesity - calculated BMI kg/m2: 36.9; genu valgum; varum SCAPER SCAPER 1 1 LOVD
00412672 P1:V8 PubMed: Wormser 2019 pedigree 1 M yes Israel Bedouin - - - - BBS best corrected visual acuity right, left eye: 6/10, 6/10; retinitis pigmentosa - nyctalopia 7y; right eye impression of a few bone spicules in mid-periphery, left eye: no cooperation; intellectual disability: moderate; short stature: yes, 155 cm; weight (kg): 92; obesity - calculated BMI kg/m2: 38.3; genu valgum; varum SCAPER SCAPER 1 1 LOVD
00412673 P2:III1 PubMed: Wormser 2019 pedigree 2 F yes Israel Bedouin - - - - BBS best corrected visual acuity: no light perception; retinitis pigmentosa - nyctalopia 20y; optic atrophy, attenuated vessels, gray atrophic retina, diffuse bone spicules, severe maculopathy, mild cortical cataract; intellectual disability: severe; short stature: yes, 146 cm; weight (kg): 86.6; obesity - calculated BMI kg/m2: 40.6; genu valgum: unknown; varum SCAPER SCAPER 1 1 LOVD
00412674 P2:III2 PubMed: Wormser 2019 pedigree 2 F yes Israel Bedouin - - - - BBS strabismus, best corrected visual acuity right, left eye: hand motion 15cm, light perception; retinitis pigmentosa - nyctalopia 28y; optic atrophy, attenuated vessels, gray atrophic retina, diffuse coarse pigment clumps &bone spicules, macular edema, mild posterior subcapsular cataract; intellectual disability: severe; short stature: yes, 149 cm; weight (kg): 62; obesity - calculated BMI kg/m2: no, but overweight - 27.9; genu valgum; varum SCAPER SCAPER 1 1 LOVD
00412675 P2:III7 PubMed: Wormser 2019 pedigree 2 F yes Israel Bedouin - - - - BBS uncorrected visual acuity: 6/21, 6/21; retinitis pigmentosa - nyctalopia 25y; bone spicules in mid-periphery, granular appearance in the posterior pole; intellectual disability: severe; short stature: yes, 132 cm; weight (kg): 57.8; obesity - calculated BMI kg/m2: 33.2; genu valgum: unknown; varum SCAPER SCAPER 1 1 LOVD
00412676 P2:IV1 PubMed: Wormser 2019 pedigree 2 M yes Israel Bedouin - - - - BBS suspected retinitis pigmentosa - fixes and follows objects, small optic disk with mild pallor, grayish retinal discoloration in mid-periphery; intellectual disability: moderate; short stature: yes, percentile 3-5% (129 cm; weight (kg): 29.5 (percentile 25-50%); obesity - calculated BMI kg/m2: BMI-for-age at the 68th percentile; genu valgum; varum SCAPER SCAPER 1 1 LOVD
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