Hereditary marrow failure syndromes.
| Disease . | Genetics/ OMIM . | Signs (nonhematopoietic) . | Screening Tests . | Biomarkers . | Advocacy/Support Groups . | Genetic Testing . |
|---|---|---|---|---|---|---|
| Abbreviations: FA, Fanconi anemia; AD, autosomal dominant; DKC, dyskeratosis congenita; AR, autosomal recessive; SD, Shwachman-Diamond syndrome; X-L, X-linked; DBA, Diamond-Blackfan anemia; HbF, fetal hemoglobin; MMC, mitomycin C; DEB, diepoxybutane | ||||||
| Information on Management and Comprehensive Treatment Centers http://www.fanconi.org/TreatmentCenters.htm http://www.cafamily.org.uk/Direct/d42.html http://www.dbar.org/ http://marrowfailure.cancer.gov/ http://www.cincinnatichildrens.org/svc/prog/blood/programs http://www.fairviewbmt.org/fanconi.asp http://www.schneiderchildrenshospital.org/sch_hema_staff.html http://www.mskcc.org/prg/prg/bios/215.cfm http://web1.tch.harvard.edu/cfapps/A2ZtopicDisplay.cfm?Topic=Diamond%20Blackfan%20Anemia http://research.dfci.harvard.edu/dandrealab/fanconianemia.html http://www.childrens.com/ccbd/hematology/index.cfm http://www.stlouischildrens.org/articles/article_print.asp?ID=195 http://dch.ohsuhealth.com/index.cfm?pageid=319§ionID=133&open=148&cfid=6&cftoken=59572841 http://depts.washington.edu/registry/index.ht | ||||||
| FA | AR/#227650 | Café-au-lait spots, skeletal anomalies (thumb and radius), short stature, microcephaly | DEB or MMC sensitivity (chromosomal breakage) | ↑ HbF macrocytosis | www.fanconi.org www.fanconicanada.org | www.rockefeller.edu/labheads/auerbach/molecularDiagnosis.php www.genedx.com g.pals@vumc.nl |
| DC | AD/#127550 X-L/305000 AR/224230 | Nail dystrophy, macular or reticular hypopigmentation, mucosal leukoplakia | Genetic | ↑ HbF macrocytosis | www.cafamily.org.uk/Direct/d42 www.icomm.ca/geneinfo/dysker.htm | www.genedx.com |
| SD | AR/260400 | Pancreatic (exocrine) insufficiency, metaphyseal dysostosis, short stature, hepatic dysfunction | Genetic Serum trypsinogen & isoamylase | ↑ HbF macrocytosis | www.shwachman-diamond.org/ | www.genedx.com |
| DBA | AD/105650 AR? Sporadic | Congenital anomalies (thumb), short stature, cardiac (ventricular or atrial septal defects) | Genetic | ↑ HbF ↑ RBC eADA | www.dbafoundation.org/ | www.genedx.com |
| Disease . | Genetics/ OMIM . | Signs (nonhematopoietic) . | Screening Tests . | Biomarkers . | Advocacy/Support Groups . | Genetic Testing . |
|---|---|---|---|---|---|---|
| Abbreviations: FA, Fanconi anemia; AD, autosomal dominant; DKC, dyskeratosis congenita; AR, autosomal recessive; SD, Shwachman-Diamond syndrome; X-L, X-linked; DBA, Diamond-Blackfan anemia; HbF, fetal hemoglobin; MMC, mitomycin C; DEB, diepoxybutane | ||||||
| Information on Management and Comprehensive Treatment Centers http://www.fanconi.org/TreatmentCenters.htm http://www.cafamily.org.uk/Direct/d42.html http://www.dbar.org/ http://marrowfailure.cancer.gov/ http://www.cincinnatichildrens.org/svc/prog/blood/programs http://www.fairviewbmt.org/fanconi.asp http://www.schneiderchildrenshospital.org/sch_hema_staff.html http://www.mskcc.org/prg/prg/bios/215.cfm http://web1.tch.harvard.edu/cfapps/A2ZtopicDisplay.cfm?Topic=Diamond%20Blackfan%20Anemia http://research.dfci.harvard.edu/dandrealab/fanconianemia.html http://www.childrens.com/ccbd/hematology/index.cfm http://www.stlouischildrens.org/articles/article_print.asp?ID=195 http://dch.ohsuhealth.com/index.cfm?pageid=319§ionID=133&open=148&cfid=6&cftoken=59572841 http://depts.washington.edu/registry/index.ht | ||||||
| FA | AR/#227650 | Café-au-lait spots, skeletal anomalies (thumb and radius), short stature, microcephaly | DEB or MMC sensitivity (chromosomal breakage) | ↑ HbF macrocytosis | www.fanconi.org www.fanconicanada.org | www.rockefeller.edu/labheads/auerbach/molecularDiagnosis.php www.genedx.com g.pals@vumc.nl |
| DC | AD/#127550 X-L/305000 AR/224230 | Nail dystrophy, macular or reticular hypopigmentation, mucosal leukoplakia | Genetic | ↑ HbF macrocytosis | www.cafamily.org.uk/Direct/d42 www.icomm.ca/geneinfo/dysker.htm | www.genedx.com |
| SD | AR/260400 | Pancreatic (exocrine) insufficiency, metaphyseal dysostosis, short stature, hepatic dysfunction | Genetic Serum trypsinogen & isoamylase | ↑ HbF macrocytosis | www.shwachman-diamond.org/ | www.genedx.com |
| DBA | AD/105650 AR? Sporadic | Congenital anomalies (thumb), short stature, cardiac (ventricular or atrial septal defects) | Genetic | ↑ HbF ↑ RBC eADA | www.dbafoundation.org/ | www.genedx.com |