FANCA
MCID: FNC027
MIFTS: 81

Fanconi Anemia, Complementation Group a (FANCA)

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

Aliases & Classifications for Fanconi Anemia, Complementation Group a

MalaCards integrated aliases for Fanconi Anemia, Complementation Group a:

Name: Fanconi Anemia, Complementation Group a 56 73 29 13 6 37 39 71
Fanconi Anemia 56 12 74 24 52 25 58 73 36 29 6 43 15 62 39 71
Fanconi Pancytopenia 12 74 24 52 25 58
Fanconi Anemia Complementation Group a 12 15 17
Fanca 56 12 73
Fa 56 25 73
Fanconi Panmyelopathy 12 25
Fanconi's Anemia 12 52
Estren-Dameshek Variant of Fanconi Pancytopenia 73
Estren-Dameshek Variant of Fanconi Anemia 73
Fanconi Anemia Estren-Dameshek Variant 73
Fanconi Hypoplastic Anemia 25
Fanconi Anemia; Fa 56
Fanconi's Anaemia 12
Fanconi Anaemia 12
Fanconis Anemia 54

Characteristics:

Orphanet epidemiological data:

58
fanconi anemia
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
fanconi anemia, complementation group a:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111095 DOID:13636
OMIM 56 227650
OMIM Phenotypic Series 56 PS227650
KEGG 36 H00238
MeSH 43 D005199
NCIt 49 C62505
SNOMED-CT 67 30575002
ICD10 32 D61.09
MESH via Orphanet 44 D005199
ICD10 via Orphanet 33 D61.0
UMLS via Orphanet 72 C0015625
Orphanet 58 ORPHA84
UMLS 71 C0015625 C3469521

Summaries for Fanconi Anemia, Complementation Group a

Genetics Home Reference : 25 Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infections; and platelets, which are necessary for normal blood clotting. Approximately 90 percent of people with Fanconi anemia have impaired bone marrow function that leads to a decrease in the production of all blood cells (aplastic anemia). Affected individuals experience extreme tiredness (fatigue) due to low numbers of red blood cells (anemia), frequent infections due to low numbers of white blood cells (neutropenia), and clotting problems due to low numbers of platelets (thrombocytopenia). People with Fanconi anemia may also develop myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally. More than half of people with Fanconi anemia have physical abnormalities. These abnormalities can involve irregular skin coloring such as unusually light-colored skin (hypopigmentation) or café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Other possible symptoms of Fanconi anemia include malformed thumbs or forearms and other skeletal problems including short stature; malformed or absent kidneys and other defects of the urinary tract; gastrointestinal abnormalities; heart defects; eye abnormalities such as small or abnormally shaped eyes; and malformed ears and hearing loss. People with this condition may have abnormal genitalia or malformations of the reproductive system. As a result, most affected males and about half of affected females cannot have biological children (are infertile). Additional signs and symptoms can include abnormalities of the brain and spinal cord (central nervous system), including increased fluid in the center of the brain (hydrocephalus) or an unusually small head size (microcephaly). Individuals with Fanconi anemia have an increased risk of developing a cancer of blood-forming cells in the bone marrow called acute myeloid leukemia (AML) or tumors of the head, neck, skin, gastrointestinal system, or genital tract. The likelihood of developing one of these cancers in people with Fanconi anemia is between 10 and 30 percent.

MalaCards based summary : Fanconi Anemia, Complementation Group a, also known as fanconi anemia, is related to fanconi anemia, complementation group t and fanconi anemia, complementation group d1, and has symptoms including anemic pallor An important gene associated with Fanconi Anemia, Complementation Group a is FANCA (FA Complementation Group A), and among its related pathways/superpathways are Fanconi anemia pathway and Regulation of TP53 Activity. The drugs Mycophenolic acid and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include Blood, bone and bone marrow, and related phenotypes are short stature and hypopigmented skin patches

Disease Ontology : 12 A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.

NIH Rare Diseases : 52 Fanconi anemia is an inherited condition that affects the bone marrow , resulting in decreased production of all types of blood cells . People with this condition have lower-than-normal numbers of white blood cells , red blood cells , and platelets (cells that help the blood clot). Not enough white blood cells can lead to infections; a lack of red blood cells may result in fatigue and anemia ; and a decreased amount of platelets may lead to excess bleeding. Fanconi anemia can be caused by mutations in various genes . It can be inherited in an autosomal recessive , autosomal dominant or X-linked recessive fashion. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for the blood problems associated with this condition.

OMIM : 56 Fanconi anemia 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). Soulier et al. (2005) noted that the FANCA, -C, -E, -F, -G, and -L proteins are part of a nuclear multiprotein core complex which triggers activating monoubiquitination of the FANCD2 protein during S phase of the growth cycle and after exposure to DNA crosslinking agents. The FA/BRCA pathway is involved in the repair of DNA damage. Some cases of Fanconi anemia have presented with a VACTERL (192350) or VACTERL-H (276950, 314390) phenotype. In a group of 27 patients with Fanconi anemia group D1 (605724) due to biallelic mutations in the BRCA2 gene (600185), Alter et al. (2007) found that 5 patients had 3 or more VATER association anomalies and 1 was diagnosed with VACTERL-H. A VATER phenotype has also been reported in Fanconi anemia of complementation groups A, C (227645), E (600901), F (603467), and G (602956); VACTERL-H has also been described in patients with FANCB (300515) mutations (McCauley et al., 2011). Savage et al. (2015) added patients with FANCI (609053) to this list and stated that patients with FANCD2 (227646) and FANCL (614083) had also been reported to have features of VACTERL association. (227650)

KEGG : 36 Fanconi anemia (FA), a recessive syndrome with both autosomal and X-linked inheritance, features diverse clinical symptoms, such as progressive bone marrow failures, chromosomal instability and susceptibility to cancer. To date, 13 FA gene products have been identified, which cooperate in a common DNA damage-activated signaling pathway regulating DNA repair (the FA pathway).

UniProtKB/Swiss-Prot : 73 Fanconi anemia, complementation group A: 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.

PubMed Health : 62 About fanconi anemia: Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare, inherited blood disorder that leads to bone marrow failure. The disorder also is called Fanconi’s anemia. FA prevents your bone marrow from making enough new blood cells for your body to work normally. FA also can cause your bone marrow to make many faulty blood cells. This can lead to serious health problems, such as leukemia (a type of blood cancer). Although FA is a blood disorder, it also can affect many of your body's organs, tissues, and systems. Children who inherit FA are at higher risk of being born with birth defects. FA also increases the risk of some cancers and other serious health problems. FA is different from Fanconi syndrome. Fanconi syndrome affects the kidneys. It's a rare and serious condition that mostly affects children. Children who have Fanconi syndrome pass large amounts of key nutrients and chemicals through their urine. These children may have serious health and developmental problems.

Wikipedia : 74 Fanconi anaemia (FA) is a rare genetic disease resulting in impaired response to DNA damage. Although it... more...

GeneReviews: NBK1401

Related Diseases for Fanconi Anemia, Complementation Group a

Diseases in the Fanconi Anemia, Complementation Group C family:

Fanconi Anemia, Complementation Group D2 Fanconi Anemia, Complementation Group a
Fanconi Anemia, Complementation Group B Fanconi Anemia, Complementation Group E
Fanconi Anemia, Complementation Group F Fanconi Anemia, Complementation Group D1
Fanconi Anemia, Complementation Group I Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group N Fanconi Anemia, Complementation Group O
Fanconi Anemia, Complementation Group P Fanconi Anemia, Complementation Group G
Fanconi Anemia, Complementation Group L Fanconi Anemia, Complementation Group Q
Fanconi Anemia, Complementation Group T Fanconi Anemia, Complementation Group V
Fanconi Anemia, Complementation Group R Fanconi Anemia, Complementation Group U
Fanconi Anemia, Complementation Group W Fanconi Anemia, Complementation Group S

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

(show top 50) (show all 1313)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group t 34.9 UBE2T SLX4 FANCM FANCL FANCI FANCG
2 fanconi anemia, complementation group d1 34.7 UBE2T SLX4 RAD51C RAD51 PALB2 FANCM
3 fanconi anemia, complementation group j 34.6 SLX4 RAD51C RAD51 PALB2 FANCM FANCL
4 fanconi anemia, complementation group n 34.6 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
5 fanconi anemia, complementation group o 34.4 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
6 esophageal atresia 34.3 FANCM FANCL FANCI FANCG FANCF FANCE
7 fanconi anemia, complementation group b 34.2 FANCL FANCG FANCF FANCE FANCD2 FANCC
8 xeroderma pigmentosum, variant type 34.1 SLX4 RAD51 MAD2L2 FANCM FANCL FANCI
9 fanconi anemia, complementation group d2 34.0 RAD51 FANCI FANCG FANCD2 FANCB FANCA
10 fanconi anemia, complementation group r 34.0 UBE2T SLX4 RAD51C RAD51 PALB2 FANCM
11 fanconi anemia, complementation group e 34.0 FANCG FANCF FANCE FANCD2 FANCC FANCA
12 fanconi anemia, complementation group q 34.0 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
13 nijmegen breakage syndrome 34.0 RAD51 FANCF FANCD2 FANCB BRCA1
14 bloom syndrome 33.9 RAD51 FANCM FANCA BRCA2 BRCA1
15 fanconi anemia, complementation group p 33.8 SLX4 RAD51C PALB2 FANCM FANCL FANCI
16 fanconi anemia, complementation group u 33.7 UBE2T SLX4 RAD51C MAD2L2 FANCM FANCL
17 fanconi anemia, complementation group i 33.7 FANCM FANCI FANCF FANCD2 FANCA
18 fanconi anemia, complementation group v 33.7 UBE2T SLX4 MAD2L2 FANCM FANCL FANCI
19 seckel syndrome 33.6 RAD51 FANCM FANCI FANCE FANCD2 FANCA
20 fanconi anemia, complementation group f 33.6 FANCG FANCF FANCE FANCD2 FANCC FANCA
21 squamous cell carcinoma, head and neck 33.5 FANCL FANCG FANCF FANCE FANCD2 FANCC
22 esophageal atresia/tracheoesophageal fistula 33.3 FANCC FANCB FANCA ERCC4 BRIP1 BRCA2
23 maternal uniparental disomy 32.9 SLX4 FANCA
24 maternal uniparental disomy of chromosome 16 32.9 SLX4 FANCA
25 peliosis hepatis 32.7 FANCG FANCA
26 fanconi anemia, complementation group c 32.1 FANCL FANCI FANCF FANCD2 FANCC FANCB
27 hereditary breast ovarian cancer syndrome 32.0 RAD51C RAD51 PALB2 FANCG BRIP1 BRCA2
28 sporadic breast cancer 31.8 RAD51C RAD51 PALB2 FANCF FANCD2 BRCA2
29 fanconi anemia, complementation group l 31.6 UBE2T FANCL FANCD2
30 breast-ovarian cancer, familial 1 31.5 RAD51C PALB2 BRCA2 BRCA1
31 tracheoesophageal fistula with or without esophageal atresia 31.4 PALB2 FANCC BRCA2
32 vacterl association 31.4 FANCL FANCI FANCB
33 xeroderma pigmentosum, complementation group f 31.3 SLX4 FANCM FANCD2 ERCC4
34 li-fraumeni syndrome 31.2 RAD51C PALB2 BRCA2 BRCA1
35 breast-ovarian cancer, familial 2 31.1 BRCA2 BRCA1
36 lynch syndrome 31.1 RAD51C PALB2 BRCA2 BRCA1
37 tetraploidy 31.0 BRCA2 BRCA1
38 mutagen sensitivity 30.7 BRCA2 BRCA1
39 xfe progeroid syndrome 30.5 SLX4 ERCC4
40 tumor predisposition syndrome 30.3 PALB2 BRCA2
41 fanconi anemia, complementation group s 12.8
42 fanconi anemia, complementation group w 12.8
43 friedreich ataxia 12.1
44 autoimmune lymphoproliferative syndrome 12.1
45 fetal alcohol syndrome 12.1
46 vacterl association with hydrocephalus 11.8
47 fanconi syndrome 11.8
48 warsaw breakage syndrome 11.7
49 mycosis fungoides 11.6
50 thrombocytopenia-absent radius syndrome 11.6

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



Diseases related to Fanconi Anemia, Complementation Group a

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group a

Human phenotypes related to Fanconi Anemia, Complementation Group a:

58 31 (show top 50) (show all 130)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
3 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
4 irregular hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007400
5 abnormality of chromosome stability 58 31 hallmark (90%) Very frequent (99-80%) HP:0003220
6 aplasia/hypoplasia of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0006501
7 leukopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001882
8 pyridoxine-responsive sideroblastic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005522
9 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
10 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
11 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
12 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
13 almond-shaped palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0007874
14 short palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012745
15 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
16 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
17 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
18 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
19 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
20 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
21 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
22 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
23 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
24 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
25 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
26 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
27 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
28 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
29 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
30 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
31 abnormal aortic valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001646
32 reduced bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004349
33 arteriovenous malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0100026
34 recurrent urinary tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0000010
35 tracheoesophageal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0002575
36 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
37 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
38 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
39 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
40 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
41 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
42 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
43 external ear malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008572
44 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
45 myelodysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002863
46 abnormality of femur morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002823
47 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
48 multiple cafe-au-lait spots 58 31 occasional (7.5%) Occasional (29-5%) HP:0007565
49 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
50 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023

Symptoms via clinical synopsis from OMIM:

56
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
Skin Nails Hair Skin:
anemic pallor
hyperpigmentation
cafe-au-lait spots
bruisability
pigmentary changes

Head And Neck Ears:
deafness
ear anomaly

Neurologic Central Nervous System:
mental retardation

Growth Weight:
low birth weight

Growth Height:
small stature

Hematology:
anemia
thrombocytopenia
leukemia
neutropenia
pancytopenia
more
Genitourinary External Genitalia Male:
cryptorchidism

Endocrine Features:
hypergonadotropic hypogonadism

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

Cardiovascular Heart:
congenital heart defect

Skeletal Limbs:
radial aplasia

Genitourinary Internal Genitalia Male:
infertility (in some patients)
azoospermia, nonobstructive (in some patients)
sertoli cell-only syndrome (in some patients)

Skeletal Hands:
thumb hypoplasia
thumb deformity
thumb aplasia
duplicated thumb

Clinical features from OMIM:

227650

UMLS symptoms related to Fanconi Anemia, Complementation Group a:


anemic pallor

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.67 BRCA1 RAD51
2 Decreased homologous recombination repair frequency GR00151-A-2 10.67 BRCA1 RAD51
3 Decreased homologous recombination repair frequency GR00236-A-1 10.67 BRCA1 BRCA2 FANCA FANCI PALB2 RAD51
4 Decreased homologous recombination repair frequency GR00236-A-2 10.67 BRCA1 BRCA2 FANCA FANCI PALB2 RAD51
5 Decreased homologous recombination repair frequency GR00236-A-3 10.67 BRCA1 BRCA2 FANCA PALB2 RAD51
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 10.09 FANCM
7 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 10.09 BRCA1 BRIP1 FANCA FANCD2 FANCM PALB2
8 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.09 BRCA1 BRCA2 BRIP1 FANCA FANCM PALB2
9 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.03 BRCA1 BRCA2 ERCC4 FANCA FANCD2 PALB2
10 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.03 BRCA1 BRCA2 ERCC4 FANCA FANCD2 FANCM
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.03 BRCA1 BRCA2 ERCC4 FANCA FANCD2 UBE2T
12 Increased gamma-H2AX phosphorylation GR00053-A 9.86 BRIP1 ERCC4 FANCA FANCC FANCE FANCI
13 Decreased viability with cisplatin GR00101-A-4 9.72 BRCA1 BRCA2 BRIP1 MAD2L2 RAD51
14 Synthetic lethal with cisplatin GR00101-A-1 9.26 BRCA1 BRCA2 BRIP1 RAD51

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.33 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
2 endocrine/exocrine gland MP:0005379 10.2 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCC
3 growth/size/body region MP:0005378 10.1 BRCA1 BRCA2 ERCC4 FANCA FANCB FANCD2
4 mortality/aging MP:0010768 10 BRCA1 BRCA2 ERCC4 FANCA FANCD2 FANCF
5 embryo MP:0005380 9.97 BRCA1 BRCA2 FANCA FANCL MAD2L2 PALB2
6 neoplasm MP:0002006 9.56 BRCA1 BRCA2 BRIP1 FANCA FANCD2 FANCF
7 reproductive system MP:0005389 9.5 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCC

Drugs & Therapeutics for Fanconi Anemia, Complementation Group a

PubMed Health treatment related to Fanconi Anemia, Complementation Group a: 62

Doctors decide how to treat Fanconi anemia (FA) based on a person's age and how well the person's bone marrow is making new blood cells .

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

(show top 50) (show all 127)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolic acid Approved Phase 2, Phase 3 24280-93-1 446541
2
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
3
Paclitaxel Approved, Vet_approved Phase 2, Phase 3 33069-62-4 36314
4
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
5
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 38904 498142
6
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
7
Thiotepa Approved, Investigational Phase 2, Phase 3 52-24-4 5453
8 Antitubercular Agents Phase 2, Phase 3
9 Anti-Bacterial Agents Phase 2, Phase 3
10 Antibiotics, Antitubercular Phase 2, Phase 3
11 Albumin-Bound Paclitaxel Phase 2, Phase 3
12 Tubulin Modulators Phase 2, Phase 3
13 Antimitotic Agents Phase 2, Phase 3
14 Immunologic Factors Phase 2, Phase 3
15 Alkylating Agents Phase 2, Phase 3
16 Immunosuppressive Agents Phase 2, Phase 3
17 Antirheumatic Agents Phase 2, Phase 3
18
Liposomal doxorubicin Phase 2, Phase 3 31703
19
Busulfan Approved, Investigational Phase 2 55-98-1 2478
20
Melphalan Approved Phase 2 148-82-3 460612 4053
21
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
22
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 27284 23925
23
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
24
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
25
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
26
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
27
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
28
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
29 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
30
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
31
Metformin Approved Phase 2 657-24-9 14219 4091
32
rituximab Approved Phase 2 174722-31-7 10201696
33
Talazoparib Approved, Investigational Phase 2 1207456-01-6 135565082
34
Abatacept Approved Phase 2 332348-12-6 10237
35
Pembrolizumab Approved Phase 2 1374853-91-4
36
Niraparib Approved, Investigational Phase 2 1038915-60-4 24958200
37
Sargramostim Approved, Investigational Phase 1, Phase 2 83869-56-1, 123774-72-1
38
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
39
Rucaparib Approved, Investigational Phase 2 283173-50-2 9931954
40
Cisplatin Approved Phase 1, Phase 2 15663-27-1 2767 441203 84093
41
Docetaxel Approved, Investigational Phase 1, Phase 2 114977-28-5 148124
42
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750
43
Olaparib Approved Phase 2 763113-22-0 23725625
44
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
45
Durvalumab Approved, Investigational Phase 2 1428935-60-7
46
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
47
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
48
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
49
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
50
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0

Interventional clinical trials:

(show top 50) (show all 113)
# Name Status NCT ID Phase Drugs
1 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Selected Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
2 Total Body Irradiation Dose De-escalation Study in Patients With Fanconi Anemia Undergoing Alternate Donor Hematopoietic Cell Transplantation Recruiting NCT00352976 Phase 2, Phase 3 Cyclophosphamide;Fludarabine;Mycophenolate Mofetil;Sirolimus
3 Randomized Phase II/III Study of Individualized Neoadjuvant Chemotherapy in ' Triple Negative' Breast Tumors Active, not recruiting NCT01057069 Phase 2, Phase 3 Carboplatin and Paclitaxel;Doxorubicin, cyclophosphamide;Doxorubicin, cyclophosphamide, carboplatin, thiotepa, cyclophosphamide
4 Randomized Phase II/III Study of Intensified Alkylating Agent Chemotherapy With Peripheral Blood Progenitor Cell Support in the Preoperative Chemotherapy of Breast Tumors That Are Deficient for Homologous Recombination. Terminated NCT00448266 Phase 2, Phase 3 Intensified Cyclophophamide, Carboplatin and Thiotepa;dose dense adriamycine and cyclophosphamide
5 The Use Of Umbilical Cord Blood As A Source Of Hematopoietic Stem Cells Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
6 Transplantation Using Umbilical Cord And Placental Blood Unknown status NCT00008164 Phase 2
7 PHASE II Study - EFFICACY AND SAFETY OF PARPi TO TREAT PANCREATIC CANCER Unknown status NCT02511223 Phase 2 OLAPARIB
8 Phase II Study of Reduced Toxicity Myeloablative Conditioning Regimen for Cord Blood Transplantation in Pediatric Acute Myeloid Leukemia Unknown status NCT00887042 Phase 1, Phase 2 Fludarabine, Busulfan, Thymoglobulin
9 Clinical Phase II Trial to Evaluate Efficacy and Safety of CD34+ Cells Mobilization and Collection After Treatment With Plerixafor and Filgrastim in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene and Reinfusion in the Patient Completed NCT02931071 Phase 2 filgrastim;plerixafor
10 AMD3100 in Combination With G-CSF to Mobilize Peripheral Blood Stem Cells in Patients With Fanconi Anemia(FA): A Phase I/II Study Completed NCT00479115 Phase 1, Phase 2 AMD3100
11 Nonmyeloablative Hematopoietic Cell Transplantation for Patients With Fanconi Anemia Using Alternative Marrow Donors: A Phase II Dose-Finding Study Completed NCT00453388 Phase 2 Cyclophosphamide;Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
12 Phase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi's Anemia Completed NCT00005898 Phase 1, Phase 2 anti-thymocyte globulin;cyclophosphamide;cyclosporine;filgrastim;fludarabine;methylprednisolone
13 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
14 Bone Marrow Stem Cell Transplantation for Children With Stem Cell Defects, Marrow Failure Syndromes, or Myeloid Leukemia in 1Remission Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
15 Treatment of Diamond Blackfan Anemia With Antithymocyte Globulin and Cyclosporine A Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
16 A Phase II Trial of Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Completed NCT01071239 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;ATG
17 A Multicenter Phase II Trial of Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Completed NCT01082133 Phase 2 Chemotherapy
18 A Phase 1/2 Trial of SRA737 (a Chk1 Inhibitor) Administered Orally in Subjects With Advanced Cancer Completed NCT02797964 Phase 1, Phase 2 SRA737
19 A Multicenter Phase II Trial of Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Completed NCT00987480 Phase 2 Busulfan, fludarabine, & cyclophosphamide with immunosuppression with ATG and cyclosporine.
20 Phase II Study of Safety & Efficacy of Deferasirox Given for 1 Year in Patients With Chronic Anemias and Transfusional Hemosiderosis Unable to be Treated With Deferoxamine Completed NCT00061763 Phase 2 Deferasirox
21 Unrelated Umbilical Cord Blood As An Alternate Source Of Stem Cells Transplantation Completed NCT00055653 Phase 2 busulfan;cyclophosphamide;cyclosporine;fludarabine phosphate;melphalan;methylprednisolone
22 A Pilot Study of Unrelated Umbilical Cord Blood Transplantation in Adults and Children With Bone Marrow Failure Syndromes or Inherited Metabolic or Hematologic Diseases Completed NCT00003662 Phase 2 busulfan;cyclophosphamide;cyclosporine;melphalan;methylprednisolone
23 An Evaluation of Bortezomib (VelcadeR ) Followed by High-Dose Melphalan and Bortezomib (VelcadeR) as Conditioning Regimen for Tandem Peripheral Blood Stem Cell Transplants in Patients With Primary Refractory Multiple Myeloma and Plasma Cell Leukemia Completed NCT00307086 Phase 2 Bortezomib;Melphalan
24 Transfusion of Autologous Umbilical Cord Blood to Reverse Hyperglycemia in Children With Type 1 Diabetes - A Pilot Study Completed NCT00305344 Phase 1, Phase 2
25 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
26 Non-Myeloablative Allogeneic Hematopoietic Peripheral Blood Stem Cell Transplantation for Hematologic Malignancies and Disorders Completed NCT00053989 Phase 2 cyclophosphamide;fludarabine phosphate;methylprednisolone;mycophenolate mofetil;tacrolimus
27 Phase II Randomized Trial of ABT-888 in Combination With Metronomic Oral Cyclophosphamide in Refractory BRCA-Positive Ovarian, Primary Peritoneal, Ovarian High-Grade Serous Carcinoma, Fallopian Tube Cancer, or Triple-Negative Breast Cancer Completed NCT01306032 Phase 2 ABT-888;Cyclophosphamide
28 A Phase 2 Clinical Trial to Evaluate the Efficacy of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the FANCA Gene in Pediatric Subjects With Fanconi Anemia Subtype A Recruiting NCT04248439 Phase 2
29 A Phase II Clinical Trial to Evaluate the Efficacy of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the FANCA Gene (Orphan Drug) in Patients With Fanconi Anemia Subtype A Recruiting NCT04069533 Phase 2
30 Pilot Study of Metformin for Patients With Fanconi Anemia Recruiting NCT03398824 Phase 2 metformin HCl
31 Eltrombopag for Patients With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag
32 T Cell Receptor Alpha/Beta T Cell Depleted (α/β TCD) Hematopoietic Cell Transplantation in Patients With Fanconi Anemia (FA) Recruiting NCT03579875 Phase 2 Total Body Irradiation (TBI) (Plan 1);Cyclophosphamide (CY) (Plan 1);Fludarabine (FLU);Methylprednisolone (MP);G-CSF;Cyclophosphamide (CY) (Plan 2);Rituximab
33 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
34 A Phase II Trial of HSCT for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Risk-Adjusted Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Recruiting NCT02143830 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;rabbit ATG;G-CSF
35 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia MT2002-02 Recruiting NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
36 Pilot Study Assessing the Feasibility of CD34+ Cells Mobilization and Collection After Treatment With G-CSF and Plerixafor in Patients With Fanconi Anemia for Subsequent Treatment by Gene Therapy Recruiting NCT02678533 Phase 1, Phase 2 G-CSF;Plerixafor
37 A Phase II Clinical Trial of the PARP Inhibitor Talazoparib in BRCA1 and BRCA2 Wild Type Patients With Advanced Triple Negative Breast Cancer and Homologous Recombination Deficiency or Advanced HER2 Negative Breast Cancer or Other Solid Tumors With a Mutation in Homologous Recombination Pathway Genes Recruiting NCT02401347 Phase 2 Talazoparib Tosylate
38 A Study of Cyclophosphamide, Fludarabine, and Antithymocyte Globulin Followed by Matched Sibling Donor Hematopoietic Cell Transplantation in Patients With Fanconi Anemia Recruiting NCT00630253 Phase 1, Phase 2 Cyclophosphamide;Fludarabine;Methylprednisolone;Filgrastim;Cyclosporine;Mycophenolate Mofetil
39 A Phase II Trial of Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Risk-Adjusted Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Recruiting NCT03600909 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;Anti-Thymocyte Globulin (Rabbit);G-CSF
40 Evaluating Immune Checkpoint Inhibition In Solid Tumor Patients With Homologous Recombination Repair Deficiency Recruiting NCT03274661 Phase 2 Pembrolizumab 200 mg Q3W
41 A Phase 2 Multicenter, Open-label Study of Rucaparib as Treatment for Solid Tumors Associated With Deleterious Mutations in Homologous Recombination Repair Genes Recruiting NCT04171700 Phase 2 Rucaparib
42 BRCAAway: A Randomized Phase II Trial of Abiraterone, Olaparib, or Abiraterone + Olaparib in Patients With Metastatic Castration-Resistant Prostate Cancer With DNA Repair Defects Recruiting NCT03012321 Phase 2 Olaparib;Abiraterone Acetate;Prednisone
43 Trial of Maintenance With Niraparib in Patients With Stage III, Stage IV or Platinum-sensitive Recurrent Uterine Serous Carcinoma Recruiting NCT04080284 Phase 2 Niraparib
44 Acute GVHD Suppression Using Costimulation Blockade to Expand Non-malignant Transplant (ASCENT) Recruiting NCT03924401 Phase 2 Abatacept
45 A Phase I-II Study to Evaluate the Efficacy and Safety of Niraparib in Combination With Cabozantinib (XL184) in Patients With Advanced Urothelial Cancer After Failure to First-line Platinum-based Chemotherapy Recruiting NCT03425201 Phase 1, Phase 2 Niraparib plus Cabozantinib
46 A Phase II Study of Niraparib in Patients With Advanced Melanoma With Genetic Homologous Recombination (HR) Mutation / Alteration Recruiting NCT03925350 Phase 2 Niraparib
47 Clinical Trial Phase I / II to Evaluate the Safety and Efficacy of the Infusion of Autologous CD34 + Cells Transduced With a Lentiviral Vector Carrying the Gene FANCA in Patients With FA Subtype A (FANCOLEN-1) Active, not recruiting NCT03157804 Phase 1, Phase 2 Plerixafor
48 A Phase II Study of the CHK1 Inhibitor LY2606368 in Patients With Advanced Solid Tumors Exhibiting Replicative Stress or Homologous Recombination Repair Deficiency Active, not recruiting NCT02873975 Phase 2 LY2606368
49 Phase II Extension Study of CaspaCIDe T Cells (BPX-501) From an HLA-partially Matched Family Donor After Negative Selection of TCR αβ+T Cells in Pediatric Patients Affected by Hematological Disorders Active, not recruiting NCT02065869 Phase 1, Phase 2 rimiducid
50 TRITON2: A Multicenter, Open-label Phase 2 Study of Rucaparib in Patients With Metastatic Castration-resistant Prostate Cancer Associated With Homologous Recombination Deficiency Active, not recruiting NCT02952534 Phase 2 Rucaparib

Search NIH Clinical Center for Fanconi Anemia, Complementation Group a

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cochrane evidence based reviews: fanconi anemia

Genetic Tests for Fanconi Anemia, Complementation Group a

Genetic tests related to Fanconi Anemia, Complementation Group a:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group a 29 FANCA
2 Fanconi Anemia 29

Anatomical Context for Fanconi Anemia, Complementation Group a

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

40
Bone, Bone Marrow, Breast, Kidney, Skin, Eye, Myeloid
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Fanconi Anemia, Complementation Group a:
# Tissue Anatomical CompartmentCell Relevance
1 Blood Hematopoietic Bone Marrow Hematopoietic Stem Cells Potential therapeutic candidate

Publications for Fanconi Anemia, Complementation Group a

Articles related to Fanconi Anemia, Complementation Group a:

(show top 50) (show all 3000)
# Title Authors PMID Year
1
X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations. 61 24 56 6
21910217 2011
2
Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M. 61 24 6 56
19423727 2009
3
A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. 24 6 56 61
16116422 2005
4
Positional cloning of the Fanconi anaemia group A gene. 6 24 56
8896564 1996
5
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. 54 24 6 61
17200668 2007
6
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. 24 54 6 61
17200671 2007
7
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. 61 54 24 6
17200672 2007
8
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 61 24 54 6
16116424 2005
9
A novel ubiquitin ligase is deficient in Fanconi anemia. 6 24 54 61
12973351 2003
10
Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study. 61 54 6 24
12552564 2003
11
Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa. 6 56 61
11344308 2001
12
Sequence variation in the Fanconi anemia gene FAA. 54 61 56 24
9371798 1997
13
Evidence for at least eight Fanconi anemia genes. 61 56 6
9382107 1997
14
Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia. 6 61 24
26046368 2015
15
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. 24 6 61
25754594 2015
16
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. 61 6 24
23623386 2013
17
Mutations of the SLX4 gene in Fanconi anemia. 6 24 61
21240275 2011
18
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. 61 24 6
21240277 2011
19
Mutation of the RAD51C gene in a Fanconi anemia-like disorder. 6 24 61
20400963 2010
20
Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. 61 6 24
17412408 2007
21
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 6 24 61
16116423 2005
22
X-linked inheritance of Fanconi anemia complementation group B. 61 24 6
15502827 2004
23
Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia. 24 56 61
12913077 2003
24
A 20-year perspective on the International Fanconi Anemia Registry (IFAR). 24 56 61
12393516 2003
25
Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. 24 61 6
8639804 1996
26
Cloning of cDNAs for Fanconi's anaemia by functional complementation. 56 6
1574115 1992
27
Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 54 61 6
19405097 2009
28
FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. 6 61 54
17460694 2007
29
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 56 24
16825431 2007
30
Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population. 54 6 61
15523645 2004
31
Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations. 6 61 54
12827451 2003
32
Fanconi anemia and DNA repair. 54 61 56
11673408 2001
33
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. 24 6
11093276 2000
34
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. 6 54 61
10807541 2000
35
The Fanconi anemia group E gene, FANCE, maps to chromosome 6p. 6 61 54
10205272 1999
36
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. 56 24
10094191 1999
37
Cytoplasmic localization of FAC is essential for the correction of a prerepair defect in Fanconi anemia group C cells. 61 54 6
8621788 1996
38
Fanconi anemia cells have a normal gene structure for topoisomerase I. 61 56 54
8168839 1994
39
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. 6 24
8348157 1993
40
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. 61 56
29904161 2019
41
Novel FANCI mutations in Fanconi anemia with VACTERL association. 61 56
26590883 2016
42
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. 6 61
21273304 2011
43
Fanconi anemia: at the crossroads of DNA repair. 61 56
21568838 2011
44
Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes. 6 61
20639400 2010
45
Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs. 61 6
20869034 2010
46
Genetic disruption of both Fancc and Fancg in mice recapitulates the hematopoietic manifestations of Fanconi anemia. 61 56
20606166 2010
47
FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia. 61 24 54
20064461 2009
48
Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction. 24 54 61
19861535 2009
49
Functional interaction between the Fanconi Anemia D2 protein and proliferating cell nuclear antigen (PCNA) via a conserved putative PCNA interaction motif. 54 24 61
19704162 2009
50
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 61 6
19888064 2009

Variations for Fanconi Anemia, Complementation Group a

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

6 (show top 50) (show all 3158) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FANCC NM_000136.3(FANCC):c.485dup (p.Glu163fs)duplication Pathogenic 409663 rs1554842611 9:97933396-97933397 9:95171114-95171115
2 FANCI NM_001113378.1(FANCI):c.3780T>A (p.Tyr1260Ter)SNV Pathogenic 408248 rs1060501900 15:89857902-89857902 15:89314671-89314671
3 FANCI NC_000015.10:g.(?_89247629)_(89317131_?)deldeletion Pathogenic 417426 15:89790860-89860362 15:89247629-89317131
4 FANCI NM_018193.3(FANCI):c.3313del (p.Asp1105fs)deletion Pathogenic 408200 rs758597713 15:89849380-89849380 15:89306149-89306149
5 FANCI NM_001113378.1(FANCI):c.1461T>A (p.Tyr487Ter)SNV Pathogenic 408247 rs769248873 15:89824480-89824480 15:89281249-89281249
6 FANCA NC_000016.10:g.(?_89752138)_(89792547_?)deldeletion Pathogenic 417423 16:89818546-89858955 16:89752138-89792547
7 SLX4 NC_000016.10:g.(?_3608430)_(3609566_?)deldeletion Pathogenic 417419 16:3658431-3659567 16:3608430-3609566
8 FANCA NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter)SNV Pathogenic 408180 rs1060501878 16:89839712-89839712 16:89773304-89773304
9 FANCA NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)SNV Pathogenic 408196 rs755546887 16:89828358-89828358 16:89761950-89761950
10 FANCA NM_000135.4(FANCA):c.1304G>A (p.Arg435His)SNV Pathogenic 408183 rs1060501879 16:89857866-89857866 16:89791458-89791458
11 FANCA NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter)SNV Pathogenic 408188 rs1060501880 16:89831327-89831327 16:89764919-89764919
12 FANCA NM_000135.4(FANCA):c.2546del (p.Ser849fs)deletion Pathogenic 408166 rs1060501876 16:89833604-89833604 16:89767196-89767196
13 FANCA NM_000135.4(FANCA):c.1827-1G>ASNV Pathogenic 408199 rs555449842 16:89842224-89842224 16:89775816-89775816
14 FANCC NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)SNV Pathogenic 419252 rs759900071 9:97879600-97879600 9:95117318-95117318
15 FANCA NM_000135.4(FANCA):c.2601+1G>TSNV Pathogenic 435128 rs1188581065 16:89833548-89833548 16:89767140-89767140
16 FANCA NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)SNV Pathogenic 435129 rs1555547474 16:89836351-89836351 16:89769943-89769943
17 FANCA NM_000135.4(FANCA):c.2151+1G>ASNV Pathogenic 435130 rs1555548428 16:89838085-89838085 16:89771677-89771677
18 FANCA NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter)SNV Pathogenic 435132 rs149551759 16:89857830-89857830 16:89791422-89791422
19 FANCG NM_004629.1(FANCG):c.1077-2A>GSNV Pathogenic 445394 rs769547477 9:35076027-35076027 9:35076030-35076030
20 FANCA NM_000135.4(FANCA):c.1A>G (p.Met1Val)SNV Pathogenic 435134 rs772751654 16:89883023-89883023 16:89816615-89816615
21 FANCL NM_001114636.1(FANCL):c.770_773TCTT[1] (p.Phe258fs)short repeat Pathogenic 456247 rs1553435610 2:58390582-58390585 2:58163447-58163450
22 FANCC NC_000009.12:g.(?_95101700)_(95508367_?)deldeletion Pathogenic 456067 9:97863982-98270649 9:95101700-95508367
23 FANCC NM_000136.3(FANCC):c.1312_1329+68dupduplication Pathogenic 456154 rs1554829415 9:97873676-97873677 9:95111394-95111395
24 FANCC NM_000136.3(FANCC):c.251-2A>GSNV Pathogenic 456159 rs1057517219 9:98003027-98003027 9:95240745-95240745
25 FANCM NM_020937.4(FANCM):c.1196C>G (p.Ser399Ter)SNV Pathogenic 456250 rs1166587869 14:45623912-45623912 14:45154709-45154709
26 FANCM NM_020937.4(FANCM):c.1591C>T (p.Gln531Ter)SNV Pathogenic 456252 rs1447482674 14:45633571-45633571 14:45164368-45164368
27 FANCA NC_000016.10:g.(?_89791397)_(89792553_?)deldeletion Pathogenic 456072 16:89791397-89792553
28 FANCA NC_000016.10:g.(?_89775736)_(89775821_?)deldeletion Pathogenic 456070 16:89842144-89842229 16:89775736-89775821
29 FANCA NC_000016.10:g.(?_89782853)_(89784970_?)deldeletion Pathogenic 456071 16:89782853-89784970
30 FANCA NC_000016.9:g.(?_89831292)_(89833651_?)deldeletion Pathogenic 456068 16:89831292-89833651
31 FANCA NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter)SNV Pathogenic 456112 rs777825824 16:89815099-89815099 16:89748691-89748691
32 SLX4 NM_032444.4(SLX4):c.860del (p.Ser287fs)deletion Pathogenic 456341 rs752720263 16:3652209-3652209 16:3602208-3602208
33 FANCA NM_000135.4(FANCA):c.3517_3519TGG[1] (p.Trp1174del)short repeat Pathogenic 456115 rs1555536446 16:89811471-89811473 16:89745063-89745065
34 FANCA NM_000135.4(FANCA):c.1809dup (p.Ile604fs)duplication Pathogenic 456084 rs1343140664 16:89845225-89845226 16:89778817-89778818
35 FANCA NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter)SNV Pathogenic 456108 rs1555538740 16:89816292-89816292 16:89749884-89749884
36 FANCA NM_000135.4(FANCA):c.1812_1813AG[1] (p.Glu605fs)short repeat Pathogenic 456085 rs759899153 16:89845220-89845221 16:89778812-89778813
37 FANCA NM_000135.4(FANCA):c.912_913AC[2] (p.Thr306fs)short repeat Pathogenic 456141 rs764122657 16:89862403-89862404 16:89795995-89795996
38 FANCA NM_000135.4(FANCA):c.641_642TG[1] (p.Cys215fs)short repeat Pathogenic 456134 rs1338138752 16:89871753-89871754 16:89805345-89805346
39 FANCC NM_000136.3(FANCC):c.946C>T (p.Gln316Ter)SNV Pathogenic 485554 rs776529713 9:97887418-97887418 9:95125136-95125136
40 FANCA NM_000135.4(FANCA):c.427A>T (p.Lys143Ter)SNV Pathogenic 488514 rs539460201 16:89877210-89877210 16:89810802-89810802
41 FANCL NM_001114636.1(FANCL):c.211C>T (p.Gln71Ter)SNV Pathogenic 526347 rs753105795 2:58456954-58456954 2:58229819-58229819
42 FANCD2 NC_000003.12:g.(?_10064723)_(10146642_?)deldeletion Pathogenic 526503 3:10106407-10188326 3:10064723-10146642
43 FANCD2 NM_033084.5(FANCD2):c.553dup (p.Arg185fs)duplication Pathogenic 526407 rs1553607671 3:10081023-10081024 3:10039339-10039340
44 FANCA NC_000016.10:g.(?_89810701)_(89816621_?)deldeletion Pathogenic 526501 16:89877109-89883029 16:89810701-89816621
45 FANCA NC_000016.10:g.(?_89761943)_(89920218_?)deldeletion Pathogenic 526504 16:89828351-89986626 16:89761943-89920218
46 FANCA NC_000016.10:g.(?_89767135)_(89816621_?)deldeletion Pathogenic 526505 16:89833543-89883029 16:89767135-89816621
47 SLX4 NM_032444.4(SLX4):c.59del (p.Leu20fs)deletion Pathogenic 526372 rs1315905872 16:3658907-3658907 16:3608906-3608906
48 FANCA NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter)SNV Pathogenic 526315 rs1166286386 16:89816189-89816189 16:89749781-89749781
49 SLX4 NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter)SNV Pathogenic 526348 rs760126773 16:3644477-3644477 16:3594476-3594476
50 FANCA NM_000135.4(FANCA):c.4261-2A>CSNV Pathogenic 545114 rs915983602 16:89805118-89805118 16:89738710-89738710

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

73 (show all 29)
# Symbol AA change Variation ID SNP ID
1 FANCA p.Ala181Val VAR_009639 rs17232246
2 FANCA p.Leu244Phe VAR_009640
3 FANCA p.Asp252Gly VAR_009641 rs17225943
4 FANCA p.Arg435Cys VAR_009642 rs148473140
5 FANCA p.His492Arg VAR_009643
6 FANCA p.Leu817Pro VAR_009647
7 FANCA p.Leu845Pro VAR_009648 rs117370426
8 FANCA p.Arg1055Leu VAR_009649 rs142994303
9 FANCA p.His1110Pro VAR_009650
10 FANCA p.Arg1117Gly VAR_009651 rs149277003
11 FANCA p.Gln1128Glu VAR_009652 rs143981734
12 FANCA p.Thr1131Ala VAR_009653 rs574034197
13 FANCA p.Trp1302Arg VAR_009656 rs878853665
14 FANCA p.His1417Asp VAR_009658 rs17227403
15 FANCA p.Asp598Asn VAR_017497
16 FANCA p.Ser858Arg VAR_017498 rs17233141
17 FANCA p.Arg1055Trp VAR_017499 rs753063086
18 FANCA p.Leu1082Pro VAR_017500
19 FANCA p.Ser1088Phe VAR_017501 rs17233497
20 FANCA p.Phe1262Leu VAR_017502 rs155553457
21 FANCA p.Asp1359Tyr VAR_017503 rs155553331
22 FANCA p.Met1360Ile VAR_017504 rs155553330
23 FANCA p.Pro1324Leu VAR_017505 rs182657062
24 FANCA p.Leu210Arg VAR_038012
25 FANCA p.Leu660Pro VAR_038013
26 FANCA p.Tyr843Asp VAR_038015 rs374030577
27 FANCA p.Gln869Pro VAR_038016 rs780825099
28 FANCA p.Leu1249Pro VAR_038019 rs753316789
29 FANCA p.Arg1400His VAR_038021 rs149851163

Cosmic variations for Fanconi Anemia, Complementation Group a:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM97107359 NRAS skin,neck,benign melanocytic nevus,congenital c.182A>G p.Q61R 1:114713908-114713908 8

Copy number variations for Fanconi Anemia, Complementation Group a from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 106526 16 88700000 90354753 Copy number FANCA Fanconi anemia

Expression for Fanconi Anemia, Complementation Group a

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

Pathways for Fanconi Anemia, Complementation Group a

Pathways related to Fanconi Anemia, Complementation Group a according to KEGG:

36
# Name Kegg Source Accession
1 Fanconi anemia pathway hsa03460

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 FANCI FANCD2 FANCC BRIP1 BRCA1
2
Show member pathways
12.73 RAD51 FANCL FANCD2 BRIP1 BRCA2 BRCA1
3
Show member pathways
12.63 RAD51 FANCG FANCF FANCE FANCD2 FANCC
4
Show member pathways
12.62 UBE2T SLX4 RAD51C RAD51 PALB2 MAD2L2
5 12.49 UBE2T RAD51 FANCD2 FANCB FANCA ERCC4
6
Show member pathways
12.3 SLX4 RAD51C RAD51 PALB2 ERCC4 BRIP1
7
Show member pathways
12.28 RAD51C RAD51 BRCA2 BRCA1
8
Show member pathways
12.15 SLX4 RAD51C RAD51 PALB2 BRIP1 BRCA2
9 11.9 UBE2T SLX4 RAD51C RAD51 PALB2 FANCM
10
Show member pathways
11.77 RAD51 FANCL FANCG FANCF FANCE FANCD2
11
Show member pathways
11.61 RAD51 FANCD2 BRCA1
12 11.37 RAD51 FANCL FANCG FANCF FANCE FANCD2
13 11.28 FANCL FANCD2 BRCA1

GO Terms for Fanconi Anemia, Complementation Group a

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.16 UBE2T SLX4 RAD51C RAD51 PALB2 MAD2L2
2 nuclear chromosome, telomeric region GO:0000784 9.67 SLX4 RAD51 ERCC4 BRCA2
3 nucleoplasm GO:0005654 9.62 UBE2T SLX4 RAD51C RAD51 PALB2 MAD2L2
4 Fanconi anaemia nuclear complex GO:0043240 9.56 FANCM FANCL FANCG FANCF FANCE FANCC
5 condensed chromosome GO:0000793 9.5 RAD51 FANCD2 BRCA1
6 Holliday junction resolvase complex GO:0048476 9.43 SLX4 RAD51C
7 lateral element GO:0000800 9.43 RAD51 BRCA2 BRCA1
8 ERCC4-ERCC1 complex GO:0070522 9.4 SLX4 ERCC4

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 10 MAD2L2 FANCI FANCD2 BRCA2 BRCA1
2 interstrand cross-link repair GO:0036297 10 UBE2T SLX4 RAD51 FANCM FANCL FANCI
3 cellular response to DNA damage stimulus GO:0006974 9.96 UBE2T SLX4 RAD51C RAD51 PALB2 MAD2L2
4 DNA recombination GO:0006310 9.8 SLX4 RAD51C RAD51 PALB2 BRCA2 BRCA1
5 double-strand break repair via homologous recombination GO:0000724 9.8 SLX4 RAD51C RAD51 PALB2 ERCC4 BRCA2
6 nucleotide-excision repair GO:0006289 9.77 SLX4 FANCC ERCC4 BRIP1 BRCA2
7 double-strand break repair GO:0006302 9.73 MAD2L2 BRIP1 BRCA2 BRCA1
8 gamete generation GO:0007276 9.65 FANCL FANCD2 FANCC
9 resolution of meiotic recombination intermediates GO:0000712 9.63 SLX4 FANCM ERCC4
10 neuronal stem cell population maintenance GO:0097150 9.62 FANCD2 FANCC
11 brain morphogenesis GO:0048854 9.62 FANCD2 FANCC
12 DNA repair GO:0006281 9.62 UBE2T SLX4 RAD51C RAD51 PALB2 MAD2L2
13 response to X-ray GO:0010165 9.61 RAD51 BRCA2
14 negative regulation of double-strand break repair via homologous recombination GO:2000042 9.6 MAD2L2 FANCB
15 regulation of regulatory T cell differentiation GO:0045589 9.59 FANCD2 FANCA
16 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.58 BRCA2 BRCA1
17 inner cell mass cell proliferation GO:0001833 9.58 PALB2 BRCA2
18 telomere maintenance via recombination GO:0000722 9.58 RAD51C RAD51 BRCA2
19 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.57 SLX4 ERCC4
20 protein K6-linked ubiquitination GO:0085020 9.56 UBE2T BRCA1
21 double-strand break repair involved in meiotic recombination GO:1990918 9.55 FANCD2 BRIP1
22 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.54 RAD51 FANCB
23 chordate embryonic development GO:0043009 9.52 BRCA2 BRCA1
24 regulation of CD40 signaling pathway GO:2000348 9.51 FANCD2 FANCA
25 mitotic recombination-dependent replication fork processing GO:1990426 9.49 RAD51 BRCA2

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.97 RAD51C RAD51 PALB2 FANCM FANCI ERCC4
2 protein binding GO:0005515 9.93 UBE2T SLX4 RAD51C RAD51 PALB2 MAD2L2
3 single-stranded DNA binding GO:0003697 9.54 RAD51 ERCC4 BRCA2
4 damaged DNA binding GO:0003684 9.43 FANCG ERCC4 BRCA1
5 four-way junction DNA binding GO:0000400 9.4 RAD51C FANCM
6 crossover junction endodeoxyribonuclease activity GO:0008821 9.16 SLX4 RAD51C
7 DNA polymerase binding GO:0070182 8.8 RAD51 FANCI FANCD2

Sources for Fanconi Anemia, Complementation Group a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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