MCID: FNC024
MIFTS: 28

Fanconi Anemia, Complementation Group D1

Categories: Genetic diseases, Nephrological diseases, Rare diseases, Blood diseases, Cancer 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 57 29 13 6 40
Fancd1 57 12 75
Fad1 57 12 75
Fanconi Anemia Complementation Group D1 12 75
Inherited Cancer-Predisposing Syndrome Due to Biallelic Brca2 Mutations 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
fanconi anemia, complementation group d1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


Summaries for Fanconi Anemia, Complementation Group D1

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. (605724)

MalaCards based summary : Fanconi Anemia, Complementation Group D1, is also known as fancd1. An important gene associated with Fanconi Anemia, Complementation Group D1 is BRCA2 (BRCA2, DNA Repair Associated). The drugs Fat Emulsions, Intravenous and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and t cells, and related phenotypes are microcephaly and cafe-au-lait spot

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 : 75 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

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group D1

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Fanconi Anemia, Complementation Group D1:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 very rare (1%) HP:0000252
2 cafe-au-lait spot 32 very rare (1%) HP:0000957
3 failure to thrive 32 very rare (1%) HP:0001508
4 intrauterine growth retardation 32 very rare (1%) HP:0001511
5 anal atresia 32 very rare (1%) HP:0002023
6 chromosomal breakage induced by crosslinking agents 32 HP:0003221
7 short stature 32 HP:0004322
8 acute myeloid leukemia 32 very rare (1%) HP:0004808
9 bone marrow hypocellularity 32 HP:0005528
10 t-cell acute lymphoblastic leukemias 32 very rare (1%) HP:0006727
11 short thumb 32 very rare (1%) HP:0009778

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

Interventional clinical trials:

(show all 11)
# 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 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 Gene - Diet Interactions in Fatty Acid Desaturase 1 Gene Completed NCT02543216 Not Applicable
7 Canola Oil Multi-center Intervention Trial II Completed NCT03054779 Not Applicable
8 Canola Oil Multicentre Intervention Trial Completed NCT01351012 Not Applicable
9 Essential Fatty Acids During Complementary Feeding Completed NCT00631046 Not Applicable
10 RISSCI-1 Blood Cholesterol Response Study Recruiting NCT03270527 Not Applicable
11 Fatty Acid Desaturase Gene Locus Interactions With Diet (FADSDIET2) Not yet recruiting NCT03572205 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 29 BRCA2

Anatomical Context for Fanconi Anemia, Complementation Group D1

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

41
Bone Marrow, Bone, T Cells, Liver, 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:

75
# 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 all 42)
# 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.8488-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs397507404 GRCh37 Chromosome 13, 32945092: 32945092
30 BRCA2 NM_000059.3(BRCA2): c.8488-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs397507404 GRCh38 Chromosome 13, 32370955: 32370955
31 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 GRCh37 Chromosome 13, 32954050: 32954050
32 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 GRCh38 Chromosome 13, 32379913: 32379913
33 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 GRCh37 Chromosome 13, 32893291: 32893291
34 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 GRCh38 Chromosome 13, 32319154: 32319154
35 BRCA2 NM_000059.3(BRCA2): c.5609_5610delTCinsAG (p.Phe1870Ter) indel Pathogenic rs276174859 GRCh37 Chromosome 13, 32914101: 32914102
36 BRCA2 NM_000059.3(BRCA2): c.5609_5610delTCinsAG (p.Phe1870Ter) indel Pathogenic rs276174859 GRCh38 Chromosome 13, 32339964: 32339965
37 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 GRCh37 Chromosome 13, 32914349: 32914349
38 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 GRCh38 Chromosome 13, 32340212: 32340212
39 BRCA2 NM_000059.3(BRCA2): c.9672dupA (p.Tyr3225Ilefs) duplication Pathogenic rs80359773 GRCh37 Chromosome 13, 32972322: 32972322
40 BRCA2 NM_000059.3(BRCA2): c.9672dupA (p.Tyr3225Ilefs) duplication Pathogenic rs80359773 GRCh38 Chromosome 13, 32398185: 32398185
41 BRCA2 NM_000059.3(BRCA2): c.7464_7465insTA (p.Asp2489Terfs) insertion Pathogenic rs886038169 GRCh37 Chromosome 13, 32930593: 32930594
42 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

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Pathways for Fanconi Anemia, Complementation Group D1

GO Terms for Fanconi Anemia, Complementation Group D1

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