Disease #00311 (FANCD1 (Fanconi anemia, complementation group D1 (FANCD-1)), OMIM:605724)

Official abbreviation FANCD1
Name Fanconi anemia, complementation group D1 (FANCD-1)
OMIM ID 605724
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 39
Phenotype entries for this disease 40
Associated with 1 gene BRCA2
Associated tissues -
Disease features -
Remarks -


Individuals

39 entries on 1 page. Showing entries 1 - 39.
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00022373 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022374 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022375 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022376 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022377 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022378 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022379 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 1 1 Arleen D. Auerbach
00022380 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022381 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022382 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022383 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022384 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022385 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022386 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022387 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022388 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022389 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022390 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022392 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 1 1 Arleen D. Auerbach
00022393 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022395 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022396 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022397 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022398 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022399 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022400 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022401 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022402 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022403 - PubMed: Meyer 2005 - M no ? (unknown) - - 0 - - FANCD1 AML BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022404 - PubMed: Chandrasekharappa 2013 - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022405 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022406 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022407 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022408 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00022409 - - - ? ? ? (unknown) - - 0 - - FANCD1 - BRCA2 BRCA2 2 1 Arleen D. Auerbach
00054798 - Svojgr_Fanconi FANCD1-case report, EJMG2015 - M no Czech Republic Czech - 0 - - FANCD1 Fanconi anemia, complementation group D1. BRCA2 BRCA2 2 1 Eva Machackova
00057263 - - - F - - - - 0 - - FANCD1 Microcephaly HP:0000252 - BRCA2 1 1 Birgit Sikkema-Raddatz
00416013 patient PubMed: Ip 2022, Journal: Ip 2022 3-generation family, affected aunt/grandmother/female, unaffected carrier father F - Australia - - 0 - - cancer, breast, FANCD1 see paper; ..., see paper; ..., severe chemotherapy toxicity BRCA2 BRCA2 2 3 Johan den Dunnen
00416852 24 PubMed: Rump 2016 - F - - - - 0 - - FANCD1 brain magnetic resonance imaging: focal temporal cortical dysplasia; additional clinical featurespostnatal growth retardation, obesity, seizures, primary amenorrhea, hepatocellular carcinoma, mild-moderate intellectual disability with regression BRCA2 BRCA2 1 1 LOVD
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