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

Official abbreviation FANC
Name Fanconi anemia (FANC)
OMIM ID -
Inheritance -
Individuals reported having this disease 24
Phenotype entries for this disease 10
Associated with 3 genes BRIP1, FANCM, RFWD3
Associated tissues -
Disease features -
Remarks -


Individuals

24 entries on 1 page. Showing entries 1 - 24.
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00001617 - - - M yes Netherlands Caucasian - 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 - - - M no United States - - 0 yes - FANC submitted 2014-03-06 13:58:28 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
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