FANCD2
MCID: FNC042
MIFTS: 52

Fanconi Anemia, Complementation Group D2 (FANCD2)

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

Aliases & Classifications for Fanconi Anemia, Complementation Group D2

MalaCards integrated aliases for Fanconi Anemia, Complementation Group D2:

Name: Fanconi Anemia, Complementation Group D2 57 29 13 13 6 40 73
Fanconi Anemia Complementation Group D2 12 75 15
Fancd2 57 12 75
Fad2 57 12 75
Fa4 57 12 75
Fanconi Pancytopenia Type 4 12 75
Fancd 57 75
Fanconi Anemia, Complementation Group D; Fancd; Facd 57
Fanconi Anemia, Complementation Group D 57
Fanconi Anemia Complementation Group D 75
Fanconi Pancytopenia, Type 4; Fa4 57
Fanconi Pancytopenia, Type 4 57
Facd 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
fanconi anemia, complementation group d2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fanconi Anemia, Complementation Group D2

OMIM : 57 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. (227646)

MalaCards based summary : Fanconi Anemia, Complementation Group D2, also known as fanconi anemia complementation group d2, is related to sporadic breast cancer and fanconi anemia, complementation group e, and has symptoms including anemic pallor An important gene associated with Fanconi Anemia, Complementation Group D2 is FANCD2 (FA Complementation Group D2), and among its related pathways/superpathways are Chks in Checkpoint Regulation and DNA Damage. The drugs Palmitic Acid and Omega 3 Fatty Acid have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are intellectual disability and hearing impairment

Disease Ontology : 12 A Fanconi anemia that has material basis in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25.

UniProtKB/Swiss-Prot : 75 Fanconi anemia complementation group D2: 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 D2

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 D2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 sporadic breast cancer 32.1 BRCA2 FANCD2 RAD51
2 fanconi anemia, complementation group e 31.8 FANCA FANCD2
3 fanconi anemia, complementation group u 31.8 FANCD2 RAD51
4 fanconi anemia, complementation group b 31.7 FANCA FANCD2
5 fanconi anemia, complementation group j 31.7 FANCA FANCD2
6 fanconi anemia, complementation group r 31.6 FANCD2 RAD51
7 fanconi anemia, complementation group f 31.6 BRCA2 FANCA FANCD2
8 fanconi anemia, complementation group v 31.5 FANCA FANCD2 RAD51
9 fanconi anemia, complementation group t 31.5 FANCA FANCD2 RAD51
10 fanconi anemia, complementation group d1 31.5 BRCA2 FANCA FANCD2
11 fanconi anemia, complementation group q 31.2 BRCA2 FANCA FANCD2 RAD51
12 congenital hypoplastic anemia 31.2 BRCA2 FANCA FANCD2 RAD51
13 fanconi anemia, complementation group a 29.4 BRCA2 FADS2 FANCA FANCD2 RAD51 SCD
14 deficiency anemia 11.4
15 fanconi anemia, complementation group i 11.1
16 fanconi anemia, complementation group o 11.1
17 fanconi anemia, complementation group l 11.1
18 breast cancer 10.3
19 multiple sclerosis 10.1
20 lung cancer 10.0
21 leukemia 10.0
22 lymphocytic leukemia 10.0
23 melanoma 10.0
24 glioma 10.0
25 bilateral breast cancer 10.0 BRCA2 RAD51
26 burkitt lymphoma 9.9
27 colorectal cancer 9.9
28 hepatocellular carcinoma 9.9
29 melanoma, uveal 9.9
30 small cell cancer of the lung 9.9
31 myeloma, multiple 9.9
32 rhabdomyosarcoma 2 9.9
33 leukemia, acute lymphoblastic 9.9
34 myelodysplastic syndrome 9.9
35 acute leukemia 9.9
36 lymphoma 9.9
37 mucositis 9.9
38 squamous cell carcinoma 9.9
39 rhabdomyosarcoma 9.9
40 plasmacytoma 9.9
41 seminoma 9.9
42 acute t cell leukemia 9.9
43 testicular seminoma 9.9
44 tracheoesophageal fistula 9.9 BRCA2 FANCA
45 hereditary breast ovarian cancer syndrome 9.8 BRCA2 RAD51

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group D2:



Diseases related to Fanconi Anemia, Complementation Group D2

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group D2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Head And Neck Eyes:
strabismus
microphthalmia

Genitourinary Kidneys:
horseshoe kidney
duplicated collecting system
renal ectopia
absent kidney
kidney malformation
more
Cardiovascular Heart:
congenital heart defect

Neurologic Central Nervous System:
mental retardation

Skeletal Hands:
radial aplasia
thumb hypoplasia
thumb deformity
thumb aplasia
duplicated thumb

Growth Height:
small stature

Hematology:
anemia
pancytopenia
thrombocytopenia
neutropenia
reticulocytopenia
more
Genitourinary External Genitalia Male:
cryptorchidism
hypergonadotropic hypogonadism

Neoplasia:
leukemia

Head And Neck Ears:
deafness
ear anomaly

Skin Nails Hair Skin:
hyperpigmentation
cafe-au-lait spots
anemic pallor
bruisability
pigmentary changes

Growth Weight:
low birth weight

Laboratory Abnormalities:
multiple chromosomal breaks
chromosomal breakage induced by diepoxybutane (deb), and mitomycin c
deficient excision of uv-induced pyrimidine dimers in dna
prolonged g2 phase of cell cycle


Clinical features from OMIM:

227646

Human phenotypes related to Fanconi Anemia, Complementation Group D2:

32 (show all 32)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 hearing impairment 32 HP:0000365
3 microcephaly 32 HP:0000252
4 short stature 32 HP:0004322
5 anemia 32 HP:0001903
6 pancytopenia 32 HP:0001876
7 ectopic kidney 32 HP:0000086
8 strabismus 32 HP:0000486
9 cryptorchidism 32 HP:0000028
10 horseshoe kidney 32 HP:0000085
11 thrombocytopenia 32 HP:0001873
12 microphthalmia 32 HP:0000568
13 hypergonadotropic hypogonadism 32 HP:0000815
14 neutropenia 32 HP:0001875
15 bruising susceptibility 32 HP:0000978
16 abnormality of skin pigmentation 32 HP:0001000
17 complete duplication of thumb phalanx 32 HP:0009943
18 abnormality of cardiovascular system morphology 32 HP:0030680
19 renal agenesis 32 HP:0000104
20 cafe-au-lait spot 32 HP:0000957
21 absent radius 32 HP:0003974
22 small for gestational age 32 HP:0001518
23 abnormal heart morphology 32 HP:0001627
24 short thumb 32 HP:0009778
25 leukemia 32 HP:0001909
26 duplicated collecting system 32 HP:0000081
27 absent thumb 32 HP:0009777
28 reticulocytopenia 32 HP:0001896
29 anemic pallor 32 HP:0001017
30 deficient excision of uv-induced pyrimidine dimers in dna 32 HP:0003213
31 prolonged g2 phase of cell cycle 32 HP:0003214
32 chromosomal breakage induced by crosslinking agents 32 HP:0003221

UMLS symptoms related to Fanconi Anemia, Complementation Group D2:


anemic pallor

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group D2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10 RAD51
2 Decreased homologous recombination repair frequency GR00151-A-2 10 RAD51
3 Decreased homologous recombination repair frequency GR00236-A-1 10 BRCA2 FANCA RAD51
4 Decreased homologous recombination repair frequency GR00236-A-2 10 BRCA2 FANCA RAD51
5 Decreased homologous recombination repair frequency GR00236-A-3 10 BRCA2 FANCA RAD51
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.26 BRCA2 FANCA FANCD2 RAD51
7 Decreased viability with cisplatin GR00101-A-4 9.16 BRCA2 RAD51
8 Synthetic lethal with cisplatin GR00101-A-1 8.62 BRCA2 RAD51

Drugs & Therapeutics for Fanconi Anemia, Complementation Group D2

Drugs for Fanconi Anemia, Complementation Group D2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Palmitic Acid Approved, Experimental Phase 4 57-10-3 985
2 Omega 3 Fatty Acid Phase 4,Not Applicable
3 Linoleate Phase 4,Not Applicable
4 Fat Emulsions, Intravenous Phase 4
5 Soy Bean Phase 4
6 Parenteral Nutrition Solutions Phase 4
7 Pharmaceutical Solutions Phase 4
8 Olive Phase 4,Not Applicable
9 Soybean oil, phospholipid emulsion Phase 4
10 Liver Extracts Phase 4
11 Phytosterol Phase 4
12 Talazoparib Approved, Investigational Phase 2 1207456-01-6
13
Olaparib Approved Phase 2,Phase 1 763113-22-0 23725625
14 Poly(ADP-ribose) Polymerase Inhibitors Phase 2,Phase 1
15
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
16
Cisplatin Approved Phase 1 15663-27-1 2767 441203 84093
17
Veliparib Investigational Phase 1 912444-00-9 11960529
18 Antineoplastic Agents, Phytogenic Phase 1
19 Antimitotic Agents Phase 1
20 Albumin-Bound Paclitaxel Phase 1
21 Antibiotics, Antitubercular Phase 1
22 Nucleic Acid Synthesis Inhibitors Phase 1
23 Anti-Bacterial Agents Phase 1
24 Alkylating Agents Phase 1
25 Mitomycins Phase 1
26 Hormones Phase 1
27 Sunflower Not Applicable
28 Flax Not Applicable

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 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%
2 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
3 Lung-MAP: Talazoparib in Treating Patients With HRRD Positive Recurrent Stage IV Squamous Cell Lung Cancer Recruiting NCT03377556 Phase 2 Talazoparib
4 Olaparib in Treating Patients With Metastatic or Advanced Urothelial Cancer With DNA-Repair Defects Recruiting NCT03375307 Phase 2 Olaparib
5 Paclitaxel, Cisplatin, and Veliparib in Treating Patients With Advanced, Persistent, or Recurrent Cervical Cancer Completed NCT01281852 Phase 1 Cisplatin;Paclitaxel;Veliparib
6 Veliparib With or Without Mitomycin C in Treating Patients With Metastatic, Unresectable, or Recurrent Solid Tumors Completed NCT01017640 Phase 1 Mitomycin;Veliparib
7 Studying the Effects of Olaparib (± Degarelix) Given to Men With Intermediate/High Risk Prostate Cancer Before Radical Prostatectomy Recruiting NCT02324998 Phase 1 Olaparib;Degarelix
8 The Role of Filaggrin and FADS Genes on the Concentrations of PUFA Towards Its Effect on Atopic Dermatitis in Infants Completed NCT02401178
9 Identification of de Novo Fanconi Anemia in Younger Patients With Newly Diagnosed Acute Myeloid Leukemia Completed NCT01146210
10 Gene - Diet Interactions in Fatty Acid Desaturase 1 Gene Completed NCT02543216 Not Applicable
11 Behavioral, Genetic, and Epigenetic Implications of Dietary Supplementation With Alpha-linolenic Acid in Humans Completed NCT01634776 Not Applicable
12 Canola Oil Multi-center Intervention Trial II Completed NCT03054779 Not Applicable
13 Essential Fatty Acids During Complementary Feeding Completed NCT00631046 Not Applicable
14 RISSCI-1 Blood Cholesterol Response Study Recruiting NCT03270527 Not Applicable
15 Fatty Acid Levels and Memory in Breastfed Children Active, not recruiting NCT01942434
16 Fatty Acid Desaturase Gene Locus Interactions With Diet (FADSDIET2) Active, not recruiting NCT03572205 Not Applicable
17 The Effect of Alpha Linolenic Acid (ALA) Supplementation During Pregnancy Not yet recruiting NCT03040856 Not Applicable

Search NIH Clinical Center for Fanconi Anemia, Complementation Group D2

Genetic Tests for Fanconi Anemia, Complementation Group D2

Genetic tests related to Fanconi Anemia, Complementation Group D2:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group D2 29 FANCD2

Anatomical Context for Fanconi Anemia, Complementation Group D2

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group D2:

41
Bone, Bone Marrow, Kidney, Skin, Heart, Lung, Breast

Publications for Fanconi Anemia, Complementation Group D2

Articles related to Fanconi Anemia, Complementation Group D2:

# Title Authors Year
1
Advances in the understanding of Fanconi Anemia Complementation Group D2 Protein (FANCD2) in human cancer. ( 26640811 )
2015
2
Heterozygosity for p53 (Trp53+/-) accelerates epithelial tumor formation in fanconi anemia complementation group D2 (Fancd2) knockout mice. ( 15665282 )
2005
3
Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice. ( 12893777 )
2003

Variations for Fanconi Anemia, Complementation Group D2

UniProtKB/Swiss-Prot genetic disease variations for Fanconi Anemia, Complementation Group D2:

75
# Symbol AA change Variation ID SNP ID
1 FANCD2 p.Ser126Gly VAR_022559 rs764507146
2 FANCD2 p.Arg302Trp VAR_022560 rs121917787
3 FANCD2 p.Arg1236His VAR_022562 rs121917786

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group D2:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCD2 NM_001018115.2(FANCD2): c.3707G> A (p.Arg1236His) single nucleotide variant Pathogenic rs121917786 GRCh37 Chromosome 3, 10131999: 10131999
2 FANCD2 NM_001018115.2(FANCD2): c.3707G> A (p.Arg1236His) single nucleotide variant Pathogenic rs121917786 GRCh38 Chromosome 3, 10090315: 10090315
3 FANCD2 FANCD2, 376A-G insertion Pathogenic
4 FANCD2 NM_001018115.2(FANCD2): c.904C> T (p.Arg302Trp) single nucleotide variant Pathogenic rs121917787 GRCh37 Chromosome 3, 10084749: 10084749
5 FANCD2 NM_001018115.2(FANCD2): c.904C> T (p.Arg302Trp) single nucleotide variant Pathogenic rs121917787 GRCh38 Chromosome 3, 10043065: 10043065
6 FANCD2 NM_001018115.2(FANCD2): c.958C> T (p.Gln320Ter) single nucleotide variant Pathogenic rs121917788 GRCh37 Chromosome 3, 10084803: 10084803
7 FANCD2 NM_001018115.2(FANCD2): c.958C> T (p.Gln320Ter) single nucleotide variant Pathogenic rs121917788 GRCh38 Chromosome 3, 10043119: 10043119
8 FANCD2 FANCD2, EX17 DEL deletion Pathogenic
9 FANCD2 NM_033084.4(FANCD2): c.2097_2099delCCT (p.Leu700del) deletion Likely pathogenic rs869312805 GRCh37 Chromosome 3, 10106488: 10106490
10 FANCD2 NM_033084.4(FANCD2): c.2097_2099delCCT (p.Leu700del) deletion Likely pathogenic rs869312805 GRCh38 Chromosome 3, 10064804: 10064806
11 FANCD2 NM_033084.4(FANCD2): c.1401G> A (p.Thr467=) single nucleotide variant Benign rs12330369 GRCh37 Chromosome 3, 10089723: 10089723
12 FANCD2 NM_033084.4(FANCD2): c.1401G> A (p.Thr467=) single nucleotide variant Benign rs12330369 GRCh38 Chromosome 3, 10048039: 10048039
13 FANCD2 NM_033084.4(FANCD2): c.1201delA (p.Arg401Glyfs) deletion Pathogenic GRCh37 Chromosome 3, 10088330: 10088330
14 FANCD2 NM_033084.4(FANCD2): c.1201delA (p.Arg401Glyfs) deletion Pathogenic GRCh38 Chromosome 3, 10046646: 10046646
15 FANCD2 NM_033084.4(FANCD2): c.1275C> T (p.Tyr425=) single nucleotide variant Benign rs764447374 GRCh37 Chromosome 3, 10088404: 10088404
16 FANCD2 NM_033084.4(FANCD2): c.1275C> T (p.Tyr425=) single nucleotide variant Benign rs764447374 GRCh38 Chromosome 3, 10046720: 10046720
17 FANCD2 NM_033084.4(FANCD2): c.1278+3_1278+5delAAG deletion Benign rs375350046 GRCh37 Chromosome 3, 10088410: 10088412
18 FANCD2 NM_033084.4(FANCD2): c.1278+3_1278+5delAAG deletion Benign rs375350046 GRCh38 Chromosome 3, 10046726: 10046728

Expression for Fanconi Anemia, Complementation Group D2

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group D2.

Pathways for Fanconi Anemia, Complementation Group D2

Pathways related to Fanconi Anemia, Complementation Group D2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.23 BRCA2 FANCA FANCD2 RAD51
2 12.03 BRCA2 FANCA FANCD2 RAD51
3 11.3 FADS2 SCD
4 11.23 BRCA2 FANCA FANCD2 RAD51
5 11.15 BRCA2 FANCD2 RAD51
6
Show member pathways
11.13 FADS2 SCD
7
Show member pathways
10.84 BRCA2 FANCA FANCD2 RAD51
8 10.79 FANCA FANCD2 RAD51

GO Terms for Fanconi Anemia, Complementation Group D2

Cellular components related to Fanconi Anemia, Complementation Group D2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 condensed chromosome GO:0000793 8.96 FANCD2 RAD51
2 lateral element GO:0000800 8.62 BRCA2 RAD51

Biological processes related to Fanconi Anemia, Complementation Group D2 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.73 BRCA2 FANCA FANCD2 RAD51
2 DNA repair GO:0006281 9.62 BRCA2 FANCA FANCD2 RAD51
3 regulation of inflammatory response GO:0050727 9.52 FANCA FANCD2
4 fatty acid biosynthetic process GO:0006633 9.51 FADS2 SCD
5 response to gamma radiation GO:0010332 9.49 BRCA2 FANCD2
6 regulation of DNA-binding transcription factor activity GO:0051090 9.48 FANCA FANCD2
7 female gonad development GO:0008585 9.46 BRCA2 FANCA
8 regulation of regulatory T cell differentiation GO:0045589 9.4 FANCA FANCD2
9 unsaturated fatty acid biosynthetic process GO:0006636 9.37 FADS2 SCD
10 interstrand cross-link repair GO:0036297 9.33 FANCA FANCD2 RAD51
11 telomere maintenance via recombination GO:0000722 9.26 BRCA2 RAD51
12 regulation of CD40 signaling pathway GO:2000348 8.96 FANCA FANCD2
13 mitotic recombination-dependent replication fork processing GO:1990426 8.62 BRCA2 RAD51

Molecular functions related to Fanconi Anemia, Complementation Group D2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA polymerase binding GO:0070182 8.96 FANCD2 RAD51
2 stearoyl-CoA 9-desaturase activity GO:0004768 8.62 FADS2 SCD

Sources for Fanconi Anemia, Complementation Group D2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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