{"Name":"Fanconi anemia complementation group D1","DiseaseID__c":"GARD:0017449","id":17449,"encodedName":"fanconi-anemia-complementation-group-d1","IsDeleted":false,"Disease_Name_Full__c":"Fanconi anemia complementation group D1","Xref_IDs__c":"766707003; C125705; C1838457; C563980; DOID:0111089; MEDGEN:325420; MONDO:0011584; OMIM:605724; ORPHA:319462","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011584","Disease_Description__c":"Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.","GARD_Name__c":"Fanconi anemia complementation group D1","GARD_Synonym__c":"brca2-related fanconi anemia; fad1; fancd1; inherited cancer-predisposing syndrome due to biallelic brca2 mutations","Curated_Disease_Description_Source__c":"MONDO:0011584","Curated_Disease_Description__c":"Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:319462","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011584","ORPHANET_ID__c":"ORPHA:319462","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de predisposición hereditaria al cáncer por mutaciones bialélicas en el gen brca2","Spanish_Description_Source__c":"ORPHA:319462","Spanish_Description__c":"Es un síndrome poco frecuente de predisposición al cáncer asociado con el subgrupo D1 de la anemia de Fanconi (AF). Está caracterizado por fallo medular progresivo, anomalías cardíacas, cerebrales, intestinales o esqueléticas y predisposición a diversas neoplasias malignas. La aplasia medular y la incidencia de anomalías del desarrollo son menos frecuentes que en otros subgrupos de AF, pero el riesgo de cáncer es muy elevado, con un espectro de cánceres pediátricos que incluye el tumor de Wilms, tumores cerebrales (a menudo meduloblastoma) y leucemias LLA / LMA.","Spanish_Disease_Name__c":"síndrome de predisposición hereditaria al cáncer por mutaciones bialélicas en el gen brca2","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:250908","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.","Curated_Disease_Description_Source__c":"MONDO:0011584","GARD_Synonym__c":"brca2-related fanconi anemia; fad1; fancd1; inherited cancer-predisposing syndrome due to biallelic brca2 mutations","Name":"Fanconi anemia complementation group D1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Fanconi Cancer Foundation","Website__c":"https://www.fanconi.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK5192","Xref__c":"NBK5192"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1401","Source__c":"Gene Review","Xref__c":"NBK1401"},{"URL__c":"https://www.orpha.net/en/disease/detail/319462","Source__c":"C1838457; MONDO:0011584","Xref__c":"ORPHA:319462"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=325420","Source__c":"C1838457","Xref__c":"MEDGEN:325420"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838457","Source__c":"C1838457","Xref__c":"C1838457"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111089","Source__c":"MONDO:0011584","Xref__c":"DOID:0111089"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563980","Source__c":"MONDO:0011584","Xref__c":"C563980"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766707003","Source__c":"MONDO:0011584","Xref__c":"766707003"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C125705","Source__c":"C1838457; MONDO:0011584","Xref__c":"C125705"},{"URL__c":"https://www.omim.org/entry/605724","Source__c":"C1838457; MONDO:0011584","Xref__c":"OMIM:605724"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011584","Source__c":"GARD:0017449","Xref__c":"MONDO:0011584"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BRCA2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/brca2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:605724","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypoplasia (congenital reduction in size) of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009778","HPO_Synonym__c":"Hypoplastic thumb; Hypoplastic thumbs; Hypoplastic/small thumb; Short thumb; Short thumbs; Small thumbs; Thumb brachydactyly; Thumb hypoplasia","HPO_Name__c":"Short thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605724","Feature__r":{"HPO_Description__c":"A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005528","HPO_Synonym__c":"Bone marrow failure; Bone marrow hypoplasia; Hypoplastic bone marrow; Myeloid hypoplasia","HPO_Name__c":"Bone marrow hypocellularity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605724","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002023","HPO_Synonym__c":"Absent anus","HPO_Name__c":"Anal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605724","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006727","HPO_Name__c":"T-cell acute lymphoblastic leukemias","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605724","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605724","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of leukemia characterized by overproduction of an early myeloid cell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004808","HPO_Synonym__c":"Acute myeloblastic leukemia; Acute myelocytic leukemia; Acute myelogenous leukemia; AML","HPO_Name__c":"Acute myeloid leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605724","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000957","HPO_Synonym__c":"Cafe au lait spots; Cafe-au-lait macule; Cafe-au-lait macules","HPO_Name__c":"Cafe-au-lait spot","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605724","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605724","Feature__r":{"HPO_Description__c":"Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003221","HPO_Synonym__c":"Chromosomal breakage induced by diepoxybutane; Chromosomal breakage induced by mitomycin C","HPO_Name__c":"Chromosomal breakage induced by crosslinking agents","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:605724","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605724","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Nephrology"],"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Account":["Nephrology"]},"synonyms":["brca2-related fanconi anemia"," fad1"," fancd1"," inherited cancer-predisposing syndrome due to biallelic brca2 mutations"]}