FANCD1
MCID: FNC024
MIFTS: 45

Fanconi Anemia, Complementation Group D1 (FANCD1)

Categories: Blood diseases, Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group D1

MalaCards integrated aliases for Fanconi Anemia, Complementation Group D1:

Name: Fanconi Anemia, Complementation Group D1 58 30 13 6 41
Fanconi Anemia Complementation Group D1 12 76 15
Fancd1 58 12 76
Fad1 58 12 76
Inherited Cancer-Predisposing Syndrome Due to Biallelic Brca2 Mutations 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
extreme sensitivity to chemotherapy


HPO:

33
fanconi anemia, complementation group d1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare renal diseases


Summaries for Fanconi Anemia, Complementation Group D1

OMIM : 58 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (605724)

MalaCards based summary : Fanconi Anemia, Complementation Group D1, also known as fanconi anemia complementation group d1, is related to fanconi anemia, complementation group v and fanconi anemia, complementation group d2. An important gene associated with Fanconi Anemia, Complementation Group D1 is BRCA2 (BRCA2 DNA Repair Associated), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. The drugs Palmitic Acid and Parenteral Nutrition Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and liver, and related phenotypes are failure to thrive and microcephaly

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13.

UniProtKB/Swiss-Prot : 76 Fanconi anemia complementation group D1: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

Related Diseases for Fanconi Anemia, Complementation Group D1

Diseases in the Fanconi Anemia, Complementation Group E family:

Fanconi Anemia, Complementation Group D2 Fanconi Anemia, Complementation Group F
Fanconi Anemia, Complementation Group D1

Diseases related to Fanconi Anemia, Complementation Group D1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group v 10.0 FANCA FANCD2
2 fanconi anemia, complementation group d2 9.9 BRCA2 FANCA FANCD2
3 sporadic breast cancer 9.9 BRCA2 FANCD2
4 tracheoesophageal fistula with or without esophageal atresia 9.8 BRCA2 FANCC
5 fanconi anemia, complementation group r 9.8 FANCD2 FANCE
6 isolated tracheoesophageal fistula 9.8 BRCA2 FANCC
7 fanconi anemia, complementation group t 9.8 FANCA FANCD2 FANCE
8 fanconi anemia, complementation group j 9.6 FANCA FANCC FANCD2
9 tracheoesophageal fistula 9.6 BRCA2 FANCA FANCC
10 fanconi anemia, complementation group q 9.6 BRCA2 FANCA FANCD2 FANCE
11 deficiency anemia 9.4 FANCA FANCC FANCD2 FANCG
12 squamous cell carcinoma, head and neck 9.2 FANCA FANCC FANCE FANCF
13 fanconi anemia, complementation group f 8.9 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
14 fanconi anemia, complementation group e 8.7 FANCA FANCC FANCD2 FANCE FANCF FANCG
15 congenital hypoplastic anemia 8.5 BRCA2 FANCA FANCC FANCD2 FANCE FANCF
16 fanconi anemia, complementation group b 8.5 FANCA FANCB FANCC FANCD2 FANCE FANCF
17 fanconi anemia, complementation group a 8.3 BRCA2 FANCA FANCB FANCC FANCD2 FANCE

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group D1:



Diseases related to Fanconi Anemia, Complementation Group D1

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group D1

Human phenotypes related to Fanconi Anemia, Complementation Group D1:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 very rare (1%) HP:0001508
2 microcephaly 33 very rare (1%) HP:0000252
3 acute myeloid leukemia 33 very rare (1%) HP:0004808
4 intrauterine growth retardation 33 very rare (1%) HP:0001511
5 anal atresia 33 very rare (1%) HP:0002023
6 cafe-au-lait spot 33 very rare (1%) HP:0000957
7 short thumb 33 very rare (1%) HP:0009778
8 t-cell acute lymphoblastic leukemias 33 very rare (1%) HP:0006727
9 short stature 33 HP:0004322
10 bone marrow hypocellularity 33 HP:0005528
11 chromosomal breakage induced by crosslinking agents 33 HP:0003221

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive
intrauterine growth retardation

Growth Height:
short stature

Skeletal Hands:
hypoplastic thumbs
abnormal thumbs

Skin Nails Hair Skin:
cafe au lait spots

Cardiovascular Heart:
cardiac defects (in some patients)

Neoplasia:
increased susceptibility to leukemia
increased susceptibility to solid cancers

Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
imperforate anus

Hematology:
bone marrow failure

Laboratory Abnormalities:
multiple chromosomal breaks
chromosomal breakage induced by diepoxybutane (deb), and mitomycin c

Head And Neck Face:
dysmorphic facial features, nonspecific (in some patients)

Clinical features from OMIM:

605724

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group D1 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.5 BRCA2 FANCA FANCC FANCD2 FANCE FANCF
2 Effect on mitosis GR00257-A-2 9.33 BRCA2 FANCC FANCE
3 Synthetic lethal with Ras GR00018-A-0 8.92 BRCA2 FANCA FANCC FANCD2

MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group D1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.8 BRCA2 FANCA FANCB FANCC FANCD2 FANCF
2 endocrine/exocrine gland MP:0005379 9.7 BRCA2 FANCA FANCB FANCC FANCD2 FANCF
3 neoplasm MP:0002006 9.26 BRCA2 FANCA FANCD2 FANCF
4 reproductive system MP:0005389 9.17 BRCA2 FANCA FANCB FANCC FANCD2 FANCF

Drugs & Therapeutics for Fanconi Anemia, Complementation Group D1

Drugs for Fanconi Anemia, Complementation Group D1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Palmitic Acid Approved Phase 4 57-10-3 985
2 Parenteral Nutrition Solutions Phase 4
3 Phytosterol Phase 4
4 Fat Emulsions, Intravenous Phase 4
5 Olive Phase 4
6 Soy Bean Phase 4,Not Applicable
7 Soybean oil, phospholipid emulsion Phase 4
8 Liver Extracts Phase 4
9 Pharmaceutical Solutions Phase 4
10 Omega 3 Fatty Acid Phase 4,Not Applicable
11 Linoleate Phase 4,Not Applicable
12
Borage oil Approved, Investigational Not Applicable
13 Borage Not Applicable
14 Antirheumatic Agents Not Applicable
15 Sunflower Not Applicable
16 Flax Not Applicable

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Pediatric Study to Evaluate Risk of Developing Essential Fatty Acid Deficiency When Receiving Clinolipid or Standard-of-Care Lipid Emulsion Terminated NCT02476994 Phase 4 Clinolipid;Intralipid
2 Safety and Efficacy Study to Compare Smoflipid and Intralipid 20% in Pediatric Patients of 3 Months to 16 Years of Age Not yet recruiting NCT03563222 Phase 4 Smoflipid;Intralipid, 20%
3 Fish Oil Supplementation, Nutrigenomics and Colorectal Cancer Prevention Completed NCT01661764 Phase 2 Eicosapentanoic acid and docosahexanoic acid;Oleic Acid
4 The Role of Filaggrin and FADS Genes on the Concentrations of PUFA Towards Its Effect on Atopic Dermatitis in Infants Completed NCT02401178
5 Botanical Oils Study to Determine Genetic Differences in the Way Your Body Processes Fats in Edible Oils Completed NCT02337231 Not Applicable
6 Fatty Acid Desaturase Gene Locus Interactions With Diet (FADSDIET2) Active, not recruiting NCT03572205 Not Applicable
7 Gene - Diet Interactions in Fatty Acid Desaturase 1 Gene Completed NCT02543216 Not Applicable
8 Canola Oil Multi-center Intervention Trial II Completed NCT03054779 Not Applicable
9 Canola Oil Multicentre Intervention Trial Completed NCT01351012 Not Applicable
10 Essential Fatty Acids During Complementary Feeding Completed NCT00631046 Not Applicable
11 RISSCI-1 Blood Cholesterol Response Study Recruiting NCT03270527 Not Applicable

Search NIH Clinical Center for Fanconi Anemia, Complementation Group D1

Genetic Tests for Fanconi Anemia, Complementation Group D1

Genetic tests related to Fanconi Anemia, Complementation Group D1:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group D1 30 BRCA2

Anatomical Context for Fanconi Anemia, Complementation Group D1

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group D1:

42
Bone, Bone Marrow, Liver, T Cells, Myeloid

Publications for Fanconi Anemia, Complementation Group D1

Variations for Fanconi Anemia, Complementation Group D1

UniProtKB/Swiss-Prot genetic disease variations for Fanconi Anemia, Complementation Group D1:

76
# Symbol AA change Variation ID SNP ID
1 BRCA2 p.Arg2336His VAR_032730 rs28897743
2 BRCA2 p.Leu2510Pro VAR_032732
3 BRCA2 p.Trp2626Cys VAR_032733

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group D1:

6 (show top 50) (show all 56)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRCA2 NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs) deletion Pathogenic rs80359550 GRCh37 Chromosome 13, 32914438: 32914438
2 BRCA2 NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs) deletion Pathogenic rs80359550 GRCh38 Chromosome 13, 32340301: 32340301
3 BRCA2 NM_000059.3(BRCA2): c.8732C> A (p.Ala2911Glu) single nucleotide variant Pathogenic rs80359130 GRCh38 Chromosome 13, 32376769: 32376769
4 BRCA2 NM_000059.3(BRCA2): c.8732C> A (p.Ala2911Glu) single nucleotide variant Pathogenic rs80359130 GRCh37 Chromosome 13, 32950906: 32950906
5 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
6 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh38 Chromosome 13, 32329469: 32329470
7 BRCA2 NM_000059.3(BRCA2): c.8219T> A (p.Leu2740Ter) single nucleotide variant Pathogenic rs80359070 GRCh37 Chromosome 13, 32937558: 32937558
8 BRCA2 NM_000059.3(BRCA2): c.8219T> A (p.Leu2740Ter) single nucleotide variant Pathogenic rs80359070 GRCh38 Chromosome 13, 32363421: 32363421
9 BRCA2 NM_000059.3(BRCA2): c.4648G> T (p.Glu1550Ter) single nucleotide variant Pathogenic rs80358695 GRCh37 Chromosome 13, 32913140: 32913140
10 BRCA2 NM_000059.3(BRCA2): c.4648G> T (p.Glu1550Ter) single nucleotide variant Pathogenic rs80358695 GRCh38 Chromosome 13, 32339003: 32339003
11 BRCA2 NM_000059.3(BRCA2): c.7529T> C (p.Leu2510Pro) single nucleotide variant Likely pathogenic rs80358979 GRCh37 Chromosome 13, 32930658: 32930658
12 BRCA2 NM_000059.3(BRCA2): c.7529T> C (p.Leu2510Pro) single nucleotide variant Likely pathogenic rs80358979 GRCh38 Chromosome 13, 32356521: 32356521
13 BRCA2 NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter) single nucleotide variant Pathogenic rs80359180 GRCh37 Chromosome 13, 32954222: 32954222
14 BRCA2 NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter) single nucleotide variant Pathogenic rs80359180 GRCh38 Chromosome 13, 32380085: 32380085
15 BRCA2 NM_000059.3(BRCA2): c.631+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs81002897 GRCh37 Chromosome 13, 32900751: 32900751
16 BRCA2 NM_000059.3(BRCA2): c.631+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs81002897 GRCh38 Chromosome 13, 32326614: 32326614
17 BRCA2 NM_000059.3(BRCA2): c.631+2T> G single nucleotide variant Pathogenic rs81002899 GRCh37 Chromosome 13, 32900752: 32900752
18 BRCA2 NM_000059.3(BRCA2): c.631+2T> G single nucleotide variant Pathogenic rs81002899 GRCh38 Chromosome 13, 32326615: 32326615
19 BRCA2 NM_000059.3(BRCA2): c.4965C> G (p.Tyr1655Ter) single nucleotide variant Pathogenic rs80358721 GRCh37 Chromosome 13, 32913457: 32913457
20 BRCA2 NM_000059.3(BRCA2): c.4965C> G (p.Tyr1655Ter) single nucleotide variant Pathogenic rs80358721 GRCh38 Chromosome 13, 32339320: 32339320
21 BRCA2 NM_000059.3(BRCA2): c.5576_5579delTTAA (p.Ile1859Lysfs) deletion Pathogenic rs80359520 GRCh37 Chromosome 13, 32914068: 32914071
22 BRCA2 NM_000059.3(BRCA2): c.5576_5579delTTAA (p.Ile1859Lysfs) deletion Pathogenic rs80359520 GRCh38 Chromosome 13, 32339931: 32339934
23 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 GRCh37 Chromosome 13, 32914174: 32914174
24 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 GRCh38 Chromosome 13, 32340037: 32340037
25 BRCA2 NM_000059.3(BRCA2): c.7007G> A (p.Arg2336His) single nucleotide variant Pathogenic rs28897743 GRCh37 Chromosome 13, 32921033: 32921033
26 BRCA2 NM_000059.3(BRCA2): c.7007G> A (p.Arg2336His) single nucleotide variant Pathogenic rs28897743 GRCh38 Chromosome 13, 32346896: 32346896
27 BRCA2 NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter) single nucleotide variant Pathogenic rs80358972 GRCh37 Chromosome 13, 32930609: 32930609
28 BRCA2 NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter) single nucleotide variant Pathogenic rs80358972 GRCh38 Chromosome 13, 32356472: 32356472
29 BRCA2 NM_000059.3(BRCA2): c.8187G> T (p.Lys2729Asn) single nucleotide variant Benign rs80359065 GRCh37 Chromosome 13, 32937526: 32937526
30 BRCA2 NM_000059.3(BRCA2): c.8187G> T (p.Lys2729Asn) single nucleotide variant Benign rs80359065 GRCh38 Chromosome 13, 32363389: 32363389
31 BRCA2 NM_000059.3(BRCA2): c.8488-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs397507404 GRCh37 Chromosome 13, 32945092: 32945092
32 BRCA2 NM_000059.3(BRCA2): c.8488-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs397507404 GRCh38 Chromosome 13, 32370955: 32370955
33 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 GRCh37 Chromosome 13, 32954050: 32954050
34 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 GRCh38 Chromosome 13, 32379913: 32379913
35 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 GRCh37 Chromosome 13, 32893291: 32893291
36 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 GRCh38 Chromosome 13, 32319154: 32319154
37 BRCA2 NM_000059.3(BRCA2): c.5609_5610delTCinsAG (p.Phe1870Ter) indel Pathogenic rs276174859 GRCh37 Chromosome 13, 32914101: 32914102
38 BRCA2 NM_000059.3(BRCA2): c.5609_5610delTCinsAG (p.Phe1870Ter) indel Pathogenic rs276174859 GRCh38 Chromosome 13, 32339964: 32339965
39 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 GRCh37 Chromosome 13, 32914349: 32914349
40 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 GRCh38 Chromosome 13, 32340212: 32340212
41 BRCA2 NM_000059.3(BRCA2): c.7051G> A (p.Ala2351Thr) single nucleotide variant Uncertain significance rs80358930 GRCh37 Chromosome 13, 32929041: 32929041
42 BRCA2 NM_000059.3(BRCA2): c.7051G> A (p.Ala2351Thr) single nucleotide variant Uncertain significance rs80358930 GRCh38 Chromosome 13, 32354904: 32354904
43 BRCA2 NM_000059.3(BRCA2): c.7625C> T (p.Thr2542Met) single nucleotide variant Conflicting interpretations of pathogenicity rs80358989 GRCh37 Chromosome 13, 32931886: 32931886
44 BRCA2 NM_000059.3(BRCA2): c.7625C> T (p.Thr2542Met) single nucleotide variant Conflicting interpretations of pathogenicity rs80358989 GRCh38 Chromosome 13, 32357749: 32357749
45 BRCA2 NM_000059.3(BRCA2): c.2229T> C (p.His743=) single nucleotide variant Benign rs1801499 GRCh37 Chromosome 13, 32910721: 32910721
46 BRCA2 NM_000059.3(BRCA2): c.2229T> C (p.His743=) single nucleotide variant Benign rs1801499 GRCh38 Chromosome 13, 32336584: 32336584
47 BRCA2 NM_000059.3(BRCA2): c.9672dupA (p.Tyr3225Ilefs) duplication Pathogenic rs80359773 GRCh37 Chromosome 13, 32972322: 32972322
48 BRCA2 NM_000059.3(BRCA2): c.9672dupA (p.Tyr3225Ilefs) duplication Pathogenic rs80359773 GRCh38 Chromosome 13, 32398185: 32398185
49 BRCA2 NM_000059.3(BRCA2): c.7464_7465insTA (p.Asp2489Terfs) insertion Pathogenic rs886038169 GRCh37 Chromosome 13, 32930593: 32930594
50 BRCA2 NM_000059.3(BRCA2): c.7464_7465insTA (p.Asp2489Terfs) insertion Pathogenic rs886038169 GRCh38 Chromosome 13, 32356456: 32356457

Expression for Fanconi Anemia, Complementation Group D1

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group D1.

Pathways for Fanconi Anemia, Complementation Group D1

GO Terms for Fanconi Anemia, Complementation Group D1

Cellular components related to Fanconi Anemia, Complementation Group D1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.76 BRCA2 FANCA FANCB FANCC FANCD2 FANCE
2 nucleoplasm GO:0005654 9.56 BRCA2 FANCA FANCB FANCC FANCD2 FANCE
3 Fanconi anaemia nuclear complex GO:0043240 9.1 FANCA FANCB FANCC FANCE FANCF FANCG

Biological processes related to Fanconi Anemia, Complementation Group D1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.76 BRCA2 FANCA FANCB FANCC FANCD2 FANCE
2 DNA repair GO:0006281 9.56 BRCA2 FANCA FANCB FANCC FANCD2 FANCE
3 cellular response to oxidative stress GO:0034599 9.55 FANCC FANCD2
4 regulation of inflammatory response GO:0050727 9.54 FANCA FANCD2
5 nucleotide-excision repair GO:0006289 9.52 BRCA2 FANCC
6 ovarian follicle development GO:0001541 9.51 FANCF FANCG
7 response to gamma radiation GO:0010332 9.49 BRCA2 FANCD2
8 regulation of DNA-binding transcription factor activity GO:0051090 9.48 FANCA FANCD2
9 female gonad development GO:0008585 9.46 BRCA2 FANCA
10 neuronal stem cell population maintenance GO:0097150 9.43 FANCC FANCD2
11 brain morphogenesis GO:0048854 9.4 FANCC FANCD2
12 gamete generation GO:0007276 9.37 FANCC FANCD2
13 regulation of regulatory T cell differentiation GO:0045589 9.32 FANCA FANCD2
14 regulation of CD40 signaling pathway GO:2000348 9.26 FANCA FANCD2
15 interstrand cross-link repair GO:0036297 9.17 FANCA FANCB FANCC FANCD2 FANCE FANCF

Sources for Fanconi Anemia, Complementation Group D1

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7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
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35 ICD10 via Orphanet
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37 IUPHAR
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50 NCI
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
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