Disease #04300 (FANC (Fanconi anemia (FANC)))

Official abbreviation FANC
Name Fanconi anemia (FANC)
OMIM ID -
Inheritance Autosomal dominant
Individuals reported having this disease 107
Phenotype entries for this disease 92
Associated with 3 genes BRIP1, FANCM, RFWD3
Associated tissues -
Disease features -
Remarks -


Individuals

107 entries on 2 pages. Showing entries 1 - 100.
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00001617 - - - M yes Netherlands white - 0 - - FANC growth retardation, microcephaly; patient's cells sensitive to DNA interstrand cross linkers (submitted 2013-07-11 17:27:11) FANCM FANCM 1 1 Najim Ameziane
00016307 patient PubMed: Ameziane 2015 2-generation family, 1 affected M no United States - - 0 yes - FANC see paper; ... RAD51 RAD51 1 1 Najim Ameziane
00020027 EUFA867 PubMed: Meetei 2005, PubMed: Singh 2009 2-generation family, 2 affected sibs, unaffected heterozygous carrier mother - ? - - - 0 - - FANC - FANCA, FANCM FANCA, FANCM 4 2 Arleen D. Auerbach
00046415 - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - 0 - - FANC - FANCA FANCA 2 1 Daniela Pilonetto
00046416 - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - 0 - - FANC - FANCA FANCA 2 1 Daniela Pilonetto
00046510 - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - 0 - - FANC - FANCA FANCA 2 1 Daniela Pilonetto
00046573 - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - 0 - - FANC - FANCG FANCG 2 1 Daniela Pilonetto
00046574 - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - 0 - - FANC - FANCA FANCA 2 1 Daniela Pilonetto
00046575 - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - 0 - - FANC - FANCA FANCA 2 1 Daniela Pilonetto
00046597 - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - 0 - - FANC - FANCA FANCA 2 1 Daniela Pilonetto
00046598 - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - 0 - - FANC - FANCA FANCA 2 1 Daniela Pilonetto
00046599 - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - 0 - - FANC - FANCA FANCA 2 1 Daniela Pilonetto
00046600 - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - 0 - - FANC - FANCA FANCA 2 1 Daniela Pilonetto
00046608 - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - 0 - - FANC - FANCA FANCA 2 1 Daniela Pilonetto
00046616 - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - 0 - - FANC - FANCG FANCG 2 1 Daniela Pilonetto
00046617 - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - 0 - - FANC - FANCG FANCG 2 1 Daniela Pilonetto
00046618 - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - 0 - - FANC - FANCC FANCC 2 1 Daniela Pilonetto
00058691 - - - - - - - - 0 - - FANC, NBS Fanconi anemia, Nijmegen breakage Syndrome NBN NBN 1 1 Johan den Dunnen
00060298 - - - M yes India - - 0 - - FANC Hyperpigmentation, supernumerary thumb with hypoplastic thennar eminence, strabismus eyes FANCA, FANCC, FANCG FANCG 1 1 Avani P. Solanki
00063826 - PubMed: Shamseldin 2012, PubMed: Park 2016, Journal: Park 2016 4-generation family, unaffected heterozygous carrier parents (first cousin) M yes Saudi Arabia - - 0 - - FANC 0d-left facial nerve palsy, microcephaly, bilaterally absent thumbs, ectopic left kidney, haemodynamically stable patent ductus arteriosus, normal blood indices/karyotype, complete absence first metacarpal and scaphoid bones bilaterally, absent left radius, hypoplastic right radius; followup severe growth deficiency, microcephaly, marked increase dsDNA breaks diepoxybutane test, see 2nd paper; no bone marrow failure (normal haematological counts haemoglobin, thrombocytes, leukocytes, neutrophils), ... XRCC2 XRCC2 1 1 Johan den Dunnen
00081424 - PubMed: Bluteau 2016, Journal: Bluteau 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - 0 - - FANC severe bone marrow failure (HP:0005528) involving all 3 lineages (hemoglobin, 8.0 g/dl; neutrophil count, 0.43×10ˆ9/l; platelets, 10 × 10^9/l), Fanconi anemia physical signs (short size (HP:0004322) at less than tenth percentile, microcephaly (HP:0000252), abnormal facial features (HP:0000271)), renal tubulopathy (HP:0000091), elevated serum alpha-fetoprotein (HP:0006254), positive mitomycine C (MMC) chromosome breakage test blood lymphocytes MAD2L2 MAD2L2 1 1 Johan den Dunnen
00102112 - - - F yes Palestine - >04y 0 YES - FANC Short stature Poor weight gain Increased chromosomal breaks COX4I1 COX4I1 1 1 Asaf Ta-Shma
00106537 22232082-Fam1Pat1 PubMed: Shamseldin 2012 4-generation family, healthy first cousin parents M yes Saudi Arabia - - 0 - - FANC fanconi anemia (FA) MTBP, RGS3 MTBP, RGS3 2 1 Johan den Dunnen
00119161 28691929-Pat1143 PubMed: Knies 2017, Journal: Knies 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany - - 0 - - FANC see paper; ... RFWD3 RFWD3 2 1 Johan den Dunnen
00397951 HUSCS-FA01 PubMed: Cagnan 2018 patient M - Turkey - - 0 - - FANC anemia, + diepoxybutane test, hypospadias, cryptorchidism, deviation to right at IVS and slight enlargement of left ventricle FANCA FANCA 1 1 Johan den Dunnen
00397952 HUSCS-FA02 PubMed: Cagnan 2018 patient F - Turkey - - 0 - - FANC anemia, + diepoxybutane test, Cafe au lait and hyperpigmentation FANCA FANCA 1 1 Johan den Dunnen
00397953 HUSCS-FA03 PubMed: Cagnan 2018 patient F - Turkey - - 0 - - FANC anemia, + diepoxybutane test, microphthalmia, hyperpigmentation, left kidney agenesis, hypothyroidism, bilateral hearing loss FANCA FANCA 1 1 Johan den Dunnen
00397954 HUSCS-FA04 PubMed: Cagnan 2018 patient M - Turkey - - 0 - - FANC anemia, + diepoxybutane test, Cafe au lait, left kidney agenesis and osteopenia FANCA FANCA 1 1 Johan den Dunnen
00397955 HUSCS-FA05 PubMed: Cagnan 2018 patient M - Turkey - - 0 - - FANC anemia, + diepoxybutane test, microcephaly, microphthalmia, ptosis, cafe au lait and hyperpigmentation FANCA FANCA 1 1 Johan den Dunnen
00397956 HUSCS-FA06 PubMed: Cagnan 2018 patient M - Turkey - - 0 - - FANC anemia, - diepoxybutane test, extremity anomalies, right ectopic kidney, right hydroureteronephrosis, right extra renal pelvis and patent ductus arteriosus FANCA FANCA 1 1 Johan den Dunnen
00397957 HUSCS-FA07 PubMed: Cagnan 2018 patient F - Turkey - - 0 - - FANC anemia, - diepoxybutane test, microcephaly, microphthalmia, cafe au lait, hyperpigmentation, left ectopic kidney and growth retardation FANCA FANCA 1 1 Johan den Dunnen
00397958 HUSCS-FA08 PubMed: Cagnan 2018 patient M - Turkey - - 0 - - FANC anemia, + diepoxybutane test, extremity anomalies, unilateral kidney agenesis, atrial septal defect, ventricular septal defect, hypothyroidism and cryptorchidism FANCG FANCG 1 1 Johan den Dunnen
00397959 HUSCS-FA09a PubMed: Cagnan 2018 2-generation family, 2 affected sibs F - Turkey - - 0 - - FANC anemia, + diepoxybutane test, microcephaly, hyperpigmentation, left kidney agenesis, growth retardation and hyperglycemia FANCD2 FANCD2 1 1 Johan den Dunnen
00397960 HUSCS-FA09b PubMed: Cagnan 2018 sib M - Turkey - - 0 - - FANC anemia, + diepoxybutane test, hydrocephaly, microphthalmia, ptosis, hyper/hypopigmentation, cafe au lait, cortical cyst and osteoporosis FANCD2 FANCD2 1 1 Johan den Dunnen
00397961 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 21 Johan den Dunnen
00397962 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 24 Johan den Dunnen
00397963 - PubMed: Magdalena 2005, PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 13 Johan den Dunnen
00397964 - PubMed: Magdalena 2005, PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 11 Johan den Dunnen
00397965 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 3 Johan den Dunnen
00397966 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 3 Johan den Dunnen
00397967 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 2 Johan den Dunnen
00397968 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 4 Johan den Dunnen
00397969 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 3 Johan den Dunnen
00397970 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 2 Johan den Dunnen
00397971 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00397972 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 2 Johan den Dunnen
00397973 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCC FANCC 1 4 Johan den Dunnen
00397974 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCC FANCC 1 2 Johan den Dunnen
00397975 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCC FANCC 1 1 Johan den Dunnen
00397976 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCG FANCG 1 2 Johan den Dunnen
00397977 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCC FANCC 1 2 Johan den Dunnen
00397978 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCC FANCC 1 2 Johan den Dunnen
00397979 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCG FANCG 1 7 Johan den Dunnen
00397980 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00397981 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 2 Johan den Dunnen
00397982 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00397983 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 3 Johan den Dunnen
00397984 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00397985 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00397986 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 9 Johan den Dunnen
00397987 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 4 Johan den Dunnen
00397988 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00397989 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 11 Johan den Dunnen
00397990 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00397991 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00397992 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00397993 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00397994 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00397995 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 9 Johan den Dunnen
00397996 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 2 Johan den Dunnen
00397997 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00397998 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00397999 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00398000 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00398001 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 2 Johan den Dunnen
00398002 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 101 Johan den Dunnen
00398003 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 2 Johan den Dunnen
00398004 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00398005 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00398006 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 2 Johan den Dunnen
00398007 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00398008 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00398009 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00398010 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00398011 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00398012 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00398013 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00398014 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 3 Johan den Dunnen
00398015 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00398016 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00398017 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCA FANCA 1 1 Johan den Dunnen
00398018 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCC FANCC 1 8 Johan den Dunnen
00398019 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCC FANCC 1 1 Johan den Dunnen
00398020 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCC FANCC 1 1 Johan den Dunnen
00398021 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCC FANCC 1 1 Johan den Dunnen
00398022 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCC FANCC 1 6 Johan den Dunnen
00398023 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCC FANCC 1 1 Johan den Dunnen
00398024 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCC FANCC 1 4 Johan den Dunnen
00398025 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCG FANCG 1 1 Johan den Dunnen
00398026 - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - FANC - FANCG FANCG 1 1 Johan den Dunnen
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