Disease #00198

Official abbreviation ?
Name unclassified / mixed
OMIM ID -
Inheritance -
Individuals reported having this disease 22147
Phenotype entries for this disease 17360
Associated with 2 genes STAT1, ZAP70
Associated tissues -
Disease features -
Remarks -


Individuals

22147 entries on 222 pages. Showing entries 1 - 100.
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Remarks     

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Age/Death     

VIP     

Data_av     

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Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00000001 - PubMed: Bell 2011 - - - - - - - - - ?, JBS - ACADM, ADA, ARSB, ATP7B, CYP21A2, DMD, ETFB, GALT, GLB1, IGHMBP2, LAMA2, NHLRC1, NPHP3, NPHS1, RAD51B, SLC26A2 ACADM, ADA, ARSB, ATP7B, CYP21A2, ETFB, GALT, GLB1, IGHMBP2, NHLRC1, NPHP3, NPHP3-ACAD11, NPHS1, SLC22A5, SLC26A2, TMPPE 34 1 LOVD-team, but with Curator vacancy
00000002 - PubMed: Bell 2011 - - - - - - - - - ? in vitro assay ACADM, ADA, ARSB, ATP7B, CPT1A, CYP21A2, GBA, GLB1, HEXA, NHLRC1, SERPINA1 ACADM, ADA, ARSB, ATP7B, CPT1A, CYP21A2, GBA, GLB1, HEXA, NHLRC1, SERPINA1, TMPPE 12 1 LOVD-team, but with Curator vacancy
00000094 - PubMed: Bell 2011 - - - - - - - - - ? - AHI1, ARSB, ATP7B, BTD, ENPP1, ETFB, GCDH, GLB1, INVS, MYO5A, NPHS1, SERPINA1, SMPD1 AHI1, ARSB, ATP7B, BTD, ENPP1, ETFB, GCDH, GLB1, INVS, MYO5A, NPHS1, SERPINA1, SMPD1, TMPPE 14 1 LOVD-team, but with Curator vacancy
00001618 24744435-FamPatIV PubMed: Balboa-Beltran 2014 4-generation family, 7 affecteds (6F, M) F no Spain - - 0 - - ? Milroy-like disease, see paper; ... VEGFC VEGFC 1 1 Francisco Barros
00002675 - PubMed: Rozen 2012 - M - India - - 0 - - ? - - - 1 27 Johan den Dunnen
00002676 - PubMed: Rozen 2012 - M - Poland - - 0 - - ? - - - 1 115 Johan den Dunnen
00002677 - PubMed: Rozen 2012 - M - Tunisia - - 0 - - ? - - - 1 41 Johan den Dunnen
00002678 - PubMed: Rozen 2012 - M - United States - - 0 - - ? - - - 1 312 Johan den Dunnen
00002679 - PubMed: Rozen 2012 - M - Viet Nam - - 0 - - ? - - - 1 107 Johan den Dunnen
00002680 - PubMed: Rozen 2012 - M - Viet Nam - - 0 - - ? - - - 1 1 Johan den Dunnen
00002681 - PubMed: Rozen 2012 - M - United States - - 0 - - ? - - - 1 121 Johan den Dunnen
00002682 - PubMed: Rozen 2012 - M - Tunisia - - 0 - - ? - - - 1 3 Johan den Dunnen
00002683 - PubMed: Rozen 2012 - M - Poland - - 0 - - ? - - - 1 105 Johan den Dunnen
00002684 - PubMed: Rozen 2012 - M - India - - 0 - - ? - - - 1 2 Johan den Dunnen
00002685 - PubMed: Rozen 2012 - M - India - - 0 - - ? - - - 1 2 Johan den Dunnen
00002686 - PubMed: Rozen 2012 - M - Poland - - 0 - - ? - - - 1 2 Johan den Dunnen
00002687 - PubMed: Rozen 2012 - M - Tunisia - - 0 - - ? - - - 1 1 Johan den Dunnen
00002688 - PubMed: Rozen 2012 - M - United States - - 0 - - ? - - - 1 16 Johan den Dunnen
00002690 - PubMed: Rozen 2012 - M - Poland Caucasian - - - - ? - - - 1 1 Johan den Dunnen
00002691 - PubMed: Rozen 2012 - M - Poland Caucasian - - - - ? - - - 1 1 Johan den Dunnen
00002692 - PubMed: Rozen 2012 - M - United States Caucasian - - - - ? - - - 1 1 Johan den Dunnen
00002693 - PubMed: Rozen 2012 - M - United States Hispanic - - - - ? - - - 1 1 Johan den Dunnen
00002694 - PubMed: Rozen 2012 - M - United States Caucasian - - - - ? - - - 1 1 Johan den Dunnen
00002695 - PubMed: Rozen 2012 - M - United States Caucasian - - - - ? - - - 1 1 Johan den Dunnen
00002696 - PubMed: Rozen 2012 - M - United States Caucasian - - - - ? - - - 1 1 Johan den Dunnen
00002697 - PubMed: Rozen 2012 - M - United States Caucasian - - - - ? - - - 1 1 Johan den Dunnen
00002698 - PubMed: Rozen 2012 - M - United States Hispanic - - - - ? - - - 1 1 Johan den Dunnen
00002699 - PubMed: Rozen 2012 - M - Poland Caucasian - - - - ? - - - 1 1 Johan den Dunnen
00002700 - PubMed: Rozen 2012 - M - Poland Caucasian - - - - ? - - - 2 1 Johan den Dunnen
00002834 - - - - - Spain - - - - - ? stiff-person-like syndrome BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002846 - - - - - Spain - - 0 - - ? early onset, cerebellar and pyramidal signs BSCL2 BSCL2 1 1 María-Jesús Sobrido
00002903 - PubMed: Rohkamm et al., J. Neurol. Sci. 2007 18 affected - ? ? (unknown) - - - - - ? - - - 0 18 María-Jesús Sobrido
00002904 - PubMed: Rohkamm et al., J. Neurol. Sci. 2007 13 affected - ? ? (unknown) - - - - - ? - - - 0 13 María-Jesús Sobrido
00002943 - PubMed: Guillen-Navarro 2013 4-generation family, twin brother Fam3PatIII1 M no Spain - - - - - ? - BSCL2 - 0 1 Johan den Dunnen
00002959 - PubMed: Guillen-Navarro 2013 - M no Spain - - - - - ? - - - 0 1 Johan den Dunnen
00002960 - PubMed: Guillen-Navarro 2013 - M no Spain - - - - - ? - - - 0 1 Johan den Dunnen
00002993 - - - - - - - - - - - ? progressive hearing loss EYA4 EYA4 2 1 Marcel Nelen
00002994 - - - - - - - - - - - ? progressive hearing loss with comorbidity COL11A1 COL11A1 1 1 Marcel Nelen
00002995 - - - - - - - - - - - ? Usher type 2 USH2A USH2A 2 1 Marcel Nelen
00002996 - - - - - - - - - - - ? Retinitis pigmentosa (RP) MYO15A MYO15A 2 1 Marcel Nelen
00002997 - - - - - - - - - - - ? slowly progressive hearing loss MYO6 MYO6 1 1 Marcel Nelen
00002998 - - - - - - - - - - - ? low frequency hearing loss WFS1 WFS1 1 1 Marcel Nelen
00002999 - - - - - - - - - - - ?, MD congenital discant severe hearing loss USH2A USH2A 2 1 Marcel Nelen
00003000 - - - - - - - - - - - ?, MD bowlshaped hearing loss CDH23 CDH23, MYO6 3 1 Marcel Nelen
00003001 - - - - - - - - - - - ? progressive hearing loss MYH9 MYH9 1 1 Marcel Nelen
00003002 - - - - - - - - - - - ? congenital, severe hearing loss MYO15A MYO15A 3 1 Marcel Nelen
00003003 - - - - - - - - - - - ? sensorineuralprogressive hearing loss with flat audiogram SMPX SMPX 1 1 Marcel Nelen
00003004 - - - - - - - - - - - ? progressive midfreq bilateral hearing loss EYA1 EYA1 1 1 Marcel Nelen
00003005 - - - - - - - - - - - ? progressive, postlingual hearing loss MYO7A MYO7A 1 1 Marcel Nelen
00003006 - - - - - - - - - - - ? bowlshaped hearing loss COL11A1 COL11A1 1 1 Marcel Nelen
00003007 - - - - - - - - - - - ? high frequency hearing loss EYA1 EYA1 1 1 Marcel Nelen
00003008 - - - - - - - - - - - ? progressive hearing loss GPR98 GPR98 2 1 Marcel Nelen
00003013 - - - - - - - - - - - ? Ataxia & Epilepsy GOSR2 GOSR2 1 1 Marcel Nelen
00003019 - - - - - - - - - - - ? PMR, epilepsy, myopathy, dystonia Leigh syndrome MTFMT MTFMT 2 1 Marcel Nelen
00003020 - - - - - - - - - - - ? PMR, autism, ataxia RARS2 RARS2 2 1 Marcel Nelen
00003021 - - - - - - - - - - - ? Myopathy, psychiatric problems MFN2 MFN2 1 1 Marcel Nelen
00003022 - - - - - - - - - - - ? exercise intolerance TK2 TK2 1 1 Marcel Nelen
00003023 - - - - - - - - - - - ? PMR, Leigh syndrome NDUFA1 NDUFA1 1 1 Marcel Nelen
00003024 - - - - - - - - - - - ? Myopathy NDUFA1 NDUFA1 1 1 Marcel Nelen
00003025 - - - - - - - - - - - ? PMR, myopathy, Leigh syndrome TUFM TUFM 2 1 Marcel Nelen
00003026 - - - - - - - - - - - ? CRC39 MUTYH MUTYH 2 1 Marcel Nelen
00003031 - - - F no Russian Federation russian - 0 - - ? - FBN1 FBN1 1 1 Yulia Rogozhina
00003071 - - creative dance performance - - Israel - - 0 - - ? - AVPR1A AVPR1A 25 826 Johan den Dunnen
00003245 - PubMed: Luddi 2009 father of II1/2 M - Italy - - 0 - - ? - - GYG2P1, TTTY15, USP9Y 1 3 Johan den Dunnen
00003246 - PubMed: Luddi 2009 son of I1, brother of II2 M no Italy - - 0 - - ? normal sperm count (60M/ml); mild asthenozoospermia; FISH normal disomy counts DDX3Y GYG2P1, TTTY15, USP9Y 1 1 Johan den Dunnen
00004126 - - Marfan syndrome / Loeys-Dietz-syndrome spectrum disorder - - Germany - - 0 - - ? - TGFB2 TGFB2 1 1 Georg Rosenberger
00004127 - - Marfan syndrome / Loeys-Dietz-syndrome spectrum disorder - - Germany - - 0 - - ? - TGFB2 TGFB2 1 1 Georg Rosenberger
00004157 - - autosomal recessive hearing loss M yes Turkey - - 0 - - ? - CLIC5 CLIC5 1 1 Helger Yntema
00004166 - - - ? ? ? (unknown) - - - - - ? - PRNP PRNP 2 1 Johan den Dunnen
00004167 - - - ? ? ? (unknown) - - - - - ? - PRNP PRNP 2 1 Johan den Dunnen
00004298 - PubMed: Beck 2010 - - - - - - 0 - - ? - PRNP PRNP 1 1 J Beck
00004301 - - - - - - - - 0 - - ? - PRNP PRNP 1 1 J Beck
00004302 - PubMed: Mead 2007 - - - United Kingdom (Great Britain) - - 0 - - ? - PRNP PRNP 1 1 J Beck
00004303 - PubMed: Poulter 1992 - - - United Kingdom (Great Britain) - - 0 - - ? - PRNP PRNP 1 1 J Beck
00004304 - PubMed: Kaski 2011 - - - United Kingdom (Great Britain) - - 0 - - ? - PRNP PRNP 1 1 J Beck
00004305 - - - - - United Kingdom (Great Britain) - - 0 - - ? - PRNP PRNP 1 1 J Beck
00004489 - - - - - United Kingdom (Great Britain) - - 0 - - ? - PRNP PRNP 1 1 J Beck
00004499 - - - - - United Kingdom (Great Britain) - - 0 - - ? - PRNP PRNP 1 1 J Beck
00004500 - PubMed: Mead 2007 - - - United Kingdom (Great Britain) - - 0 - - ? - PRNP PRNP 1 1 J Beck
00011668 - - large multi-generation family, 22 afecteds, unaffected heterozygote carriers - - Reunion Caucasian - 0 - - ? multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (MIM 245600) B4GALT7 B4GALT7 1 22 Francois Cartault
00011670 - - - - - - - - 0 - - ? - PXDN PXDN 1 1 Anne Slavotinek
00011677 24827421-P1 PubMed: Diodato 2014 - M ? Italy - - 0 - - ? psycomotor regression, microcephalia VARS2 VARS2 1 1 Daniele Ghezzi
00011679 24827421-P2/P3 PubMed: Diodato 2014 2-generation family, 2 affecteds M no Italy - - 0 - - ? Mitochondrial disorder TARS2 TARS2 2 1 Daniele Ghezzi
00013689 - - - F - Germany - - - no (pedigree) - ? additional phenotype data available; colorectal phenotype normal no polyps; no colon cancer APC APC, CRYAA 2 1 Stefan Aretz
00016080 - Huntsman Cancer Institute - HGCR, University of Utah, 2000 Circle of Hope Drive, Rm 1132, Salt lake City, Utah 84112 Gardner fibroma - - Germany - - - yes (pedigree) - ? additional phenotype data available APC APC 1 1 Stefan Aretz
00016128 - PubMed: Soler-Alfonso 2014 3-generation family, affected mother II-3 F ? United States Caucasian >37y 0 - - ? Developmental delay, learning disability, bipolar disorder, anxiety disorder, epilepsy CHRNA7 CHRNA7 1 4 Christian Schaaf
00016209 - PubMed: Gordon 2013 2-generation family, father and daugther (23315542-Pat7) M no - - - 0 - - ? normal ears, large cheeks, possible hypoplasia angle mandible GNAI3 GNAI3 1 1 Johan den Dunnen
00016300 - PubMed: Soler-Alfonso 2014 3-generation family, affected grandfather I.1 M - United States Caucasian - 0 - - ? alcoholism, drug addiction, abusive behaviors to family members; multiple family members with alcoholism CHRNA7 CHRNA7 1 1 Christian Schaaf
00016302 - - - - - Spain - - 0 - - ? - - BSCL2 1 1 Sergio Piñeiro
00016312 - - - F no - - - 0 - - ? - PXDN PXDN 2 1 Anne Slavotinek
00016315 - - - M - Albania - - 0 - - ? atypical metaphyseal anadysplasia, different clinical features and autosomal recessive mode of inheritance MMP13 MMP13 1 2 Dong Li
00016324 - - Diagnosis: Febrile seizures F ? Italy - - 0 - - ? familial febrile seizures GABRG2, RELN GABRG2, RELN 2 1 Lab Zuffardi
00016325 - - Diagnosis: Benign epilepsy of childhood with centrotempral spikes (BECTS) M no Italy - - 0 - - ? benign childhood epilepsy with centro-temporal spikes (BCECTS) GRIN2A, RELN GRIN2A, RELN 2 1 Lab Zuffardi
00016326 - - Diagnosis: Febrile seizures F no Italy - - 0 - - ? familial febrile seizures SCN2A SCN2A 1 1 Lab Zuffardi
00016413 - PubMed: Makrythanasis 2014 4-generation family, 2 affected bothers, unaffected heterozygous carrier parents (cousins) and sister M yes Egypt - - 0 - - ? the proband and his brother are affected from a syndrome that comprises: tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly FGFR3 FGFR3 1 2 Periklis Makrythanasis
00016424 - Nishiyama 2009 1 affected F no Japan - - 0 - - ? Congenital Generalized Lipodystrophy type 2 BSCL2 BSCL2 1 1 Sergio Piñeiro
00016427 - Rahman 2013 2 affected ? yes Pakistan - - 0 - - ? Congenital Generalized Lipodystrophy type 2 BSCL2 BSCL2 1 2 Sergio Piñeiro
00016428 - Huang 2013 1 affected, 2 unaffected carrier parents ? no China - - 0 - - ? Congenital Generalized Lipodystrophy type 2 BSCL2 BSCL2 1 3 Sergio Piñeiro
00016429 - Jeninga 2013 1 affected; 4 unaffected carriers ? yes Turkey - - 0 - - ? Congenital Generalized Lipodystrophy type 2 BSCL2 BSCL2 1 5 Sergio Piñeiro
00016586 - PubMed: Xia 2014 2-generation family, 1 affected F no (United States) European - 0 - - ? 18m-no words, no sitting, hypotonia, failure to thrive, low-set ears, esotropia, upslanting palpebral fissures, micrognathia, flat nasal bridge, laryngomalacia, obstructive sleep apnea AHDC1, CALY, CCDC66, PTPRB, TBCK AHDC1, CALY, CCDC66, PTPRB, TBCK 5 1 Marianne Vos (LOVD-team)
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