FANCA
MCID: FNC027
MIFTS: 80

Fanconi Anemia, Complementation Group a (FANCA)

Categories: Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Fanconi Anemia, Complementation Group a

MalaCards integrated aliases for Fanconi Anemia, Complementation Group a:

Name: Fanconi Anemia, Complementation Group a 57 73 12 36 38 71
Fanconi Anemia 57 11 24 19 42 58 75 73 28 5 43 14 63 38 71
Fanconi Pancytopenia 11 24 19 42 58 75
Fanconi Anemia Complementation Group a 11 28 5 14 16
Fanca 57 11 73
Fa 57 42 73
Fanconi Panmyelopathy 11 42
Fanconi's Anemia 11 19
Estren-Dameshek Variant of Fanconi Pancytopenia 73
Estren-Dameshek Variant of Fanconi Anemia 73
Fanconi Anemia Estren-Dameshek Variant 73
Fanconi Hypoplastic Anemia 42
Fanconi's Anaemia 11
Fanconi Anaemia 11
Fanconis Anemia 53

Characteristics:


Inheritance:

Fanconi Anemia, Complementation Group a: Autosomal recessive 57
Fanconi Anemia: Autosomal recessive,X-linked recessive 58

Prevelance:

Fanconi Anemia: 1-9/100000 (Specific population, Israel, Specific population, Specific population) 1-9/1000000 (Europe, Europe) 58

Age Of Onset:

Fanconi Anemia: Childhood 58

Classifications:

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


External Ids:

Disease Ontology 11 DOID:0111095 DOID:13636
OMIM® 57 227650
OMIM Phenotypic Series 57 PS227650
MeSH 43 D005199
NCIt 49 C62505
SNOMED-CT 68 30575002
MESH via Orphanet 44 D005199
ICD10 via Orphanet 32 D61.0
UMLS via Orphanet 72 C0015625
Orphanet 58 ORPHA84
UMLS 71 C0015625 C3469521

Summaries for Fanconi Anemia, Complementation Group a

MedlinePlus Genetics: 42 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 q and fanconi anemia, complementation group r, 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 Homology Directed Repair and Homologous DNA Pairing and Strand Exchange. The drugs Busulfan and Alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include Blood, bone marrow and bone, and related phenotypes are short stature and thrombocytopenia

OMIM®: 57 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) (Updated 24-Oct-2022)

PubMed Health : 63 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.

GARD: 19 Fanconi anemia (FA) affects the way genetic information (DNA) is copied and repaired. FA leads to bone marrow failure, skeletal abnormalities, and an increased risk for cancer. People with FA have a decreased number of red blood cells, white blood cells, and platelets leading to anemia, frequent infections, and excessive bleeding. In addition, people with FA may have limb, kidney, eye, skin, and genitourinary tract abnormalities. FA occurs due to variations in one of at least 22 genes. It is usually inherited in an autosomal recessive pattern, but it may also be inherited in an autosomal dominant or X-linked recessive pattern. FA can be diagnosed based on the symptoms, clinical exam, laboratory testing. The diagnosis may be confirmed by genetic testing.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology 11 Fanconi anemia complementation group a: A Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24.

Fanconi anemia: 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.

Orphanet: 58 A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

Wikipedia: 75 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 671)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group q 33.7 SLX4 FANCM FANCI FANCE
2 fanconi anemia, complementation group r 33.6 SLX4 FANCM FANCL FANCI BRIP1
3 fanconi anemia, complementation group v 33.6 SLX4 FANCM FANCL FANCB
4 fanconi anemia, complementation group e 33.1 FANCG FANCF FANCE FANCD2 FANCC FANCA
5 fanconi anemia, complementation group t 33.1 FANCM FANCI FANCG FANCD2 FANCB FANCA
6 fanconi anemia, complementation group d2 33.0 LOC107303338 FANCM FANCL FANCI FANCG FANCD2OS
7 xeroderma pigmentosum, variant type 33.0 SLX4 FANCM FANCL FANCI FANCG FANCD2
8 hereditary breast ovarian cancer syndrome 33.0 SLX4 FANCM FANCL FANCI FANCG FANCF
9 physical disorder 33.0 SLX4 FANCM FANCL FANCI FANCG FANCF
10 deficiency anemia 32.9 SLX4 FANCM FANCL FANCI FANCG FANCF
11 fanconi anemia, complementation group d1 32.9 SLX4 FANCI FANCG FANCF FANCE FANCD2
12 fanconi anemia, complementation group f 32.9 FANCG FANCF FANCE FANCD2 FANCC FANCA
13 bloom syndrome 32.9 FANCM FANCL FANCG FANCF FANCC FANCA
14 seckel syndrome 32.8 SLX4 FANCM FANCL FANCI FANCG FANCE
15 esophageal atresia 32.7 FANCC FANCB FANCA BRIP1 BRCA2 AOPEP
16 fanconi anemia, complementation group i 32.7 FANCM FANCL FANCI FANCF FANCE FANCD2
17 fanconi anemia, complementation group b 32.7 FANCL FANCG FANCF FANCE FANCD2 FANCC
18 lynch syndrome 32.6 SLX4 FANCM FANCG FANCD2 FANCC FANCA
19 congenital nervous system abnormality 32.6 FANCI FANCG FANCD2 FANCC FANCB FANCA
20 fanconi anemia, complementation group l 32.6 FANCL FANCI FANCG FANCA
21 dyskeratosis congenita 32.6 SLX4 FANCI FANCG FANCD2 FANCC FANCB
22 ataxia-telangiectasia 32.5 FANCD2 FANCA BRCA2 BRCA1
23 diamond-blackfan anemia 32.4 FANCI FANCG FANCD2 FANCC FANCB FANCA
24 premature menopause 32.4 FANCM FANCA BRCA2 BRCA1
25 pituitary stalk interruption syndrome 32.4 FANCG FANCA
26 fanconi anemia, complementation group u 32.3 FANCG FANCC FANCB FANCA
27 bap1 tumor predisposition syndrome 32.3 FANCM FANCC BRIP1 BRCA2 BRCA1 AOPEP
28 inherited cancer-predisposing syndrome 32.3 FANCM FANCC BRIP1 BRCA2 BRCA1 AOPEP
29 amed syndrome, digenic 32.1 FANCC FANCA
30 papillary adenofibroma 32.0 SLX4 FANCA
31 aplastic anemia 32.0 SLX4 FANCM FANCL FANCI FANCG FANCF
32 fanconi anemia, complementation group c 31.6 FANCD2 FANCC FANCB FANCA AOPEP
33 squamous cell carcinoma, head and neck 31.5 FANCL FANCG FANCF FANCE FANCD2 FANCC
34 breast-ovarian cancer, familial 2 31.3 BRCA2 BRCA1
35 fanconi anemia, complementation group g 31.2 FANCI FANCG FANCD2
36 nijmegen breakage syndrome 31.2 FANCD2 BRCA2 BRCA1
37 breast-ovarian cancer, familial 1 31.2 BRIP1 BRCA2 BRCA1
38 sporadic breast cancer 31.0 FANCD2 BRIP1 BRCA2 BRCA1
39 hereditary breast cancer 30.9 BRCA2 BRCA1
40 fanconi anemia, complementation group o 30.9 SLX4 FANCL FANCF FANCE FANCB BRIP1
41 ovarian cancer 1 30.9 BRIP1 BRCA2 BRCA1
42 vacterl association, x-linked, with or without hydrocephalus 30.8 FANCL FANCB
43 fanconi anemia, complementation group n 30.8 FANCI BRIP1 BRCA2 BRCA1
44 basal cell nevus syndrome 30.7 FANCC BRCA2 BRCA1
45 fanconi anemia, complementation group j 30.7 FANCD2 BRIP1 BRCA1
46 li-fraumeni syndrome 30.5 FANCC BRCA2 BRCA1
47 fanconi anemia, complementation group p 11.8
48 fanconi anemia, complementation group s 11.7
49 fanconi anemia, complementation group w 11.6
50 vacterl association with hydrocephalus 11.3

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 30 (show top 50) (show all 131)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
2 thrombocytopenia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001873
3 abnormality of chromosome stability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003220
4 hypopigmented skin patches 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001053
5 aplasia/hypoplasia of the radius 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006501
6 leukopenia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001882
7 pyridoxine-responsive sideroblastic anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005522
8 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
9 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
10 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
11 microcephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000252
12 almond-shaped palpebral fissure 58 30 Frequent (33%) Frequent (79-30%)
HP:0007874
13 short palpebral fissure 58 30 Frequent (33%) Frequent (79-30%)
HP:0012745
14 hyperreflexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001347
15 frontal bossing 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002007
16 ptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000508
17 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
18 high palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000218
19 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
20 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
21 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
22 hypertelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000316
23 umbilical hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001537
24 pes planus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001763
25 visual impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000505
26 renal insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000083
27 cranial nerve paralysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006824
28 strabismus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000486
29 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
30 abnormal aortic valve morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001646
31 reduced bone mineral density 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004349
32 arteriovenous malformation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100026
33 cryptorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000028
34 intrauterine growth retardation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001511
35 micrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000347
36 epicanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000286
37 atrial septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001631
38 external ear malformation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008572
39 renal hypoplasia/aplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008678
40 hypertrophic cardiomyopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001639
41 myelodysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002863
42 abnormality of femur morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002823
43 dolichocephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000268
44 multiple cafe-au-lait spots 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007565
45 upslanted palpebral fissure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000582
46 anal atresia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002023
47 aganglionic megacolon 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002251
48 clinodactyly of the 5th finger 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004209
49 facial asymmetry 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000324
50 choanal atresia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000453

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 (Updated 24-Oct-2022)

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.62 BRCA1 BRCA2 FANCA FANCD2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.62 BRCA1 BRCA2 BRIP1 FANCA FANCD2 FANCM
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.62 BRCA1 BRCA2 FANCA FANCC FANCD2 FANCE
4 Synthetic lethal with cisplatin GR00101-A-1 9.43 BRCA1 BRCA2 BRIP1
5 Decreased viability with cisplatin GR00101-A-4 9.33 BRCA1 BRCA2 BRIP1
6 Increased ionizing radiation sensitivity GR00232-A-1 8.96 BRCA1 BRCA2

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.13 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCC
2 cellular MP:0005384 10 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCC
3 neoplasm MP:0002006 9.87 BRCA1 BRCA2 BRIP1 FANCA FANCD2 FANCF
4 reproductive system MP:0005389 9.83 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCC
5 hematopoietic system MP:0005397 9.4 BRCA1 BRCA2 BRIP1 FANCA FANCC FANCD2

Drugs & Therapeutics for Fanconi Anemia, Complementation Group a

PubMed Health treatment related to Fanconi Anemia, Complementation Group a: 63

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):

(showing 105, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
2
Alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
3
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030
4
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
5
Fludarabine Approved Phase 1, Phase 2 75607-67-9, 21679-14-1 30751 657237
6
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
7
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
8
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
9
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
10
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
11
Prednisolone Approved, Vet_approved Phase 2 50-24-8 4894 5755
12
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5 1875
13
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 4159 6741
14
Metformin Approved Phase 2 1115-70-4, 657-24-9 4091
15
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643
16
Sargramostim Approved, Investigational Phase 2 123774-72-1
17
Iron Approved Phase 2 7439-89-6 29936
18
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
19
Deferasirox Approved, Investigational Phase 2 201530-41-8 214348 5493381
20
Talazoparib Approved, Investigational Phase 2 1207456-01-6 135565082
21
Olaparib Approved Phase 2 763113-22-0 23725625
22
Pembrolizumab Approved Phase 2 1374853-91-4 254741536
23
Rituximab Approved Phase 1, Phase 2 174722-31-7
24
Niraparib Approved, Investigational Phase 2 1038915-60-4 24958200
25
Plerixafor Approved Phase 1, Phase 2 110078-46-1 65015
26
Lenograstim Approved, Investigational Phase 2 135968-09-1
27
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
28
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7 4897
29
Molgramostim Investigational Phase 2 99283-10-0
30 Protective Agents Phase 2
31 Cyclosporins Phase 2
32 Antineoplastic Agents, Alkylating Phase 1, Phase 2
33 Antirheumatic Agents Phase 2
34 Immunosuppressive Agents Phase 2
35 Alkylating Agents Phase 1, Phase 2
36 Dermatologic Agents Phase 2
37 Antifungal Agents Phase 2
38 Calcineurin Inhibitors Phase 2
39 Antimetabolites Phase 2
40 Antitubercular Agents Phase 2
41 Antibiotics, Antitubercular Phase 2
42 Anti-Bacterial Agents Phase 2
43 Gastrointestinal Agents Phase 2
44 glucocorticoids Phase 2
45 Antiemetics Phase 2
46
Methylprednisolone Acetate Phase 2 584547
47 Anti-Inflammatory Agents Phase 2
48 Neuroprotective Agents Phase 2
49 Hypoglycemic Agents Phase 2
50 Chelating Agents Phase 2
51 Iron Chelating Agents Phase 2
52 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
53 Anti-Infective Agents Phase 1, Phase 2
54 Anti-HIV Agents Phase 1, Phase 2
55 Antiviral Agents Phase 1, Phase 2
56 Anti-Retroviral Agents Phase 1, Phase 2
57 Immunologic Factors Phase 1, Phase 2
58 Liver Extracts Phase 2
59 Adjuvants, Immunologic Phase 2
60 Thymoglobulin Phase 2
61 Antineoplastic Agents, Immunological Phase 1, Phase 2
62 Antilymphocyte Serum Phase 2
63 Estrogens Phase 1, Phase 2
64 Hormones Phase 1, Phase 2
65 Estrogen Receptor Antagonists Phase 1, Phase 2
66 Estrogen Antagonists Phase 1, Phase 2
67 Hormone Antagonists Phase 1, Phase 2
68 Antibodies, Monoclonal Phase 1, Phase 2
69 Antibodies Phase 1, Phase 2
70 Immunoglobulins Phase 1, Phase 2
71
Amifostine Approved, Investigational Phase 1 20537-88-6 2141
72
Levoleucovorin Approved, Experimental, Investigational Phase 1 68538-85-2, 58-05-9, 73951-54-9 149436 6006
73
Methotrexate Approved Phase 1 1959-05-2, 59-05-2 4112 126941
74
Oxandrolone Approved, Investigational Phase 1 53-39-4 5878
75
Abatacept Approved Phase 1 332348-12-6
76
Prednisone Approved, Vet_approved Phase 1 53-03-2 5865
77
Folic acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
78
Quercetin Experimental, Investigational Phase 1 117-39-5 10283929 5320834 5280343
79
Cortisone Experimental Phase 1 53-06-5 222786
80 Radiation-Protective Agents Phase 1
81 Folic Acid Antagonists Phase 1
82 Folate Phase 1
83 Vitamin B9 Phase 1
84 Vitamin B Complex Phase 1
85 Androgens Phase 1
86 Anabolic Agents Phase 1
87 Immune Checkpoint Inhibitors Phase 1
88 Antioxidants Phase 1
89 Antineoplastic Agents, Hormonal Phase 1
90
Etanercept Approved, Investigational Early Phase 1 185243-69-0
91
Mechlorethamine Approved, Investigational 51-75-2 4033
92
Pancrelipase Approved, Investigational 53608-75-6 8519
93
Clofarabine Approved, Investigational 123318-82-1 119182
94
Thiotepa Approved, Investigational 52-24-4 5453
95
Melphalan Approved 148-82-3 4053 460612
96
Alefacept Approved, Investigational, Withdrawn 222535-22-0
97
D-Phenylalanine Approved, Experimental, Investigational, Nutraceutical 63-91-2, 673-06-3 6140 71567
98 Anti-Inflammatory Agents, Non-Steroidal Early Phase 1
99 Analgesics, Non-Narcotic Early Phase 1
100 Analgesics Early Phase 1
101 N-(2-aminoethyl)-5-isoquinolinesulfonamide
102 gamma-Globulins
103 Rho(D) Immune Globulin
104 Immunoglobulins, Intravenous
105 Pancreatin

Interventional clinical trials:

(show top 50) (show all 82)
# 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 Completed NCT00352976 Phase 2, Phase 3 Cyclophosphamide;Fludarabine;Mycophenolate Mofetil;Sirolimus
3 The Use Of Umbilical Cord Blood As A Source Of Hematopoietic Stem Cells Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
4 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
5 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 Completed NCT02678533 Phase 1, Phase 2 G-CSF;Plerixafor
6 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
7 A Study of Cyclophosphamide, Fludarabine, and Antithymocyte Globulin Followed by Matched Sibling Donor Hematopoietic Cell Transplantation in Patients With Fanconi Anemia Completed NCT00630253 Phase 1, Phase 2 Cyclophosphamide;Fludarabine;Methylprednisolone;Filgrastim;Cyclosporine;Mycophenolate Mofetil
8 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.
9 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
10 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
11 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia MT2002-02 Completed NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
12 Pilot Study of Metformin for Patients With Fanconi Anemia Completed NCT03398824 Phase 2 metformin HCl
13 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
14 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
15 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
16 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
17 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
18 Treatment of Diamond Blackfan Anemia With Antithymocyte Globulin and Cyclosporine A Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
19 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
20 A Phase II Study of Talazoparib (BMN 673) in Patients With Homologous Recombination Repair Deficiency Positive Stage IV Squamous Cell Lung Cancer (Lung-Map Sub-Study) Completed NCT03377556 Phase 2 Talazoparib
21 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
22 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
23 Immunotherapy in Combination With PARP Inhibition in Advanced Cervical Cancer Patients Functionally Competent or Deficient for the Fanconi Anemia Repair Pathway Recruiting NCT04483544 Phase 2 pembrolizumab;olaparib
24 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
25 TCRαβ+ T-cell/CD19+ B-cell Depleted Hematopoietic Grafts and a Reduced Intensity Preparative Conditioning Regimen Containing JSP191 to Achieve Engraftment and Blood Reconstitution in Patients With Fanconi Anemia Recruiting NCT04784052 Phase 1, Phase 2 JSP191;Cyclophosphamide;Fludarabine;Rituximab
26 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;Busulfan
27 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
28 Eltrombopag for Patients With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag
29 A Phase II Study of Olaparib in Patients With Advanced Biliary Tract Cancer With Aberrant DNA Repair Gene Mutations Recruiting NCT04042831 Phase 2 Olaparib
30 Phase II Trial of PARP Inhibitor Niraparib for Men With High Risk Prostate Cancer and DNA Damage Response Defects Recruiting NCT04030559 Phase 2 Niraparib;Niraparib Tosylate Monohydrate
31 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 2 rimiducid
32 Follow-up of Phase 1/2 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 NCT03733249 Phase 1, Phase 2 Rimiducid
33 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
34 A Multinational, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Preliminary Activity of FP 045 in Patients With Fanconi Anemia Not yet recruiting NCT04522375 Phase 1, Phase 2 FP-045
35 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 Terminated NCT03600909 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;Anti-Thymocyte Globulin (Rabbit);G-CSF
36 Phase I/II Dose Escalation Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
37 A Study of Thymic Shielding in Recipients of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Stem Cell Transplantation in Patients With Fanconi Anemia Terminated NCT00167206 Phase 1, Phase 2 Cyclophosphamide, Fludarabine
38 Cd45 (Yth-24 and Yth 54) and Cd52 (Campath-1H) Monoclonal Antibody Conditioning Regimen for Allogeneic Donor Stem Cell Transplantation of Patients With Fanconi Anemia Terminated NCT00590460 Phase 1, Phase 2 Fludarabine
39 Phase I Pilot Study of CD34 Enriched, Fanconi's Anemia Complementation Group C Gene Transduced Autologous Peripheral Blood Stem Cell Transplantation in Patients With Fanconi's Anemia Unknown status NCT00005896 Phase 1 filgrastim
40 Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia Unknown status NCT00006127 Phase 1 amifostine
41 Dose-Finding Study for Cyclophosphamide as Conditioning Regimens for Bone Marrow Transplantation From Related Donors in Patients With Fanconi Anemia Completed NCT00317876 Phase 1 cyclophosphamide;cyclosporine;methotrexate
42 Low-Dose Total Body Irradiation and Fludarabine Followed By Unrelated Donor Stem Cell Transplantation for Patients With Fanconi Anemia - A Multicenter Trial Completed NCT00093743 Phase 1 fludarabine phosphate;cyclosporine;mycophenolate mofetil
43 Retroviral Mediated Gene Transfer of the Fanconi Anemia Complementation Group C Gene to Hematopoietic Progenitors of Group C Patients Completed NCT00001399 Phase 1 Transduced CD34+ Cells
44 A Pilot Trial of Oxandrolone for the Treatment of Bone Marrow Aplasia in Patients With Fanconi Anemia Completed NCT00243399 Phase 1 Oxandrolone
45 Gene Transfer From Patients With Fanconi Anemia, Genotype A: A Pilot Study Completed NCT00272857 Phase 1
46 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Completed NCT01917708 Phase 1 Abatacept
47 Quercetin in Children With Fanconi Anemia; a Pilot Study Active, not recruiting NCT01720147 Phase 1 Quercetin (dietary supplement)
48 A Phase I Clinical Trial to Evaluate the Safety of the Infusion of Autologous CD34+ Cells Transduced With a Lentiviral Vector Carrying the FANCA Gene in Pediatric Subjects With Fanconi Anemia Subtype A Active, not recruiting NCT03814408 Phase 1
49 Gene Transfer for Patients With Fanconi Anemia Complementation Group A (FANCA) Active, not recruiting NCT01331018 Phase 1 Methylprednisolone;Plerixafor;Prednisone
50 A Phase I Study Evaluating The Use Of Rft5-Dga To Deplete Alloreactive Cells For Patients With Fanconi Anemia After Haploidentical Stem Cell Transplantation Terminated NCT00586274 Phase 1 Fludarabine

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 28 FANCA
2 Fanconi Anemia 28

Anatomical Context for Fanconi Anemia, Complementation Group a

Organs/tissues related to Fanconi Anemia, Complementation Group a:

MalaCards : Bone Marrow, Bone, Skin, Spinal Cord, Myeloid, Kidney, Eye
ODiseA: Blood And Bone Marrow, Kidney
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 4770)
# Title Authors PMID Year
1
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. 62 24 57 5
16825431 2007
2
Sequence variation in the Fanconi anemia gene FAA. 53 62 57 5
9371798 1997
3
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. 62 57 5
29904161 2019
4
Novel FANCI mutations in Fanconi anemia with VACTERL association. 62 57 5
26590883 2016
5
Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M. 62 57 5
19423727 2009
6
A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. 62 57 5
16116422 2005
7
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 53 62 24 5
16116424 2005
8
Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study. 53 62 24 5
12552564 2003
9
Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa. 62 57 5
11344308 2001
10
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. 62 57 5
10094191 1999
11
Positional cloning of the Fanconi anaemia group A gene. 62 57 5
8896564 1996
12
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia. 62 24 5
29269525 2018
13
The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations. 62 24 5
21548014 2012
14
Treatment of the bone marrow failure in Fanconi anemia patients with danazol. 62 24 5
22178060 2012
15
X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations. 62 24 57
21910217 2011
16
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. 62 24 5
21273304 2011
17
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. 62 24 5
20869034 2010
18
Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry. 62 24 5
20435624 2010
19
Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. 62 24 5
17909071 2007
20
Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM. 62 24 5
17289582 2007
21
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. 62 24 5
16116423 2005
22
Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. 62 24 5
14670928 2004
23
Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. 62 24 5
15070707 2004
24
A 20-year perspective on the International Fanconi Anemia Registry (IFAR). 62 24 57
12393516 2003
25
Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group. 62 24 5
11110674 2000
26
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. 62 24 5
11093276 2000
27
The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients. 62 24 5
10666230 2000
28
Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study. 62 24 5
9207444 1997
29
Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. 62 24 5
8639804 1996
30
Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 53 62 5
19405097 2009
31
Validation of Fanconi anemia complementation Group A assignment using molecular analysis. 53 62 5
19367192 2009
32
Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI. 53 62 5
19111657 2008
33
UBE2T, the Fanconi anemia core complex, and FANCD2 are recruited independently to chromatin: a basis for the regulation of FANCD2 monoubiquitination. 53 62 5
17938197 2007
34
FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. 53 62 5
17460694 2007
35
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. 53 62 5
17436244 2007
36
Natural gene therapy in monozygotic twins with Fanconi anemia. 53 62 5
16397136 2006
37
Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia. 53 62 5
16429406 2006
38
A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain. 53 62 5
15522956 2005
39
Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. 53 62 5
15643609 2005
40
Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population. 53 62 5
15523645 2004
41
Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant. 53 62 5
12955722 2003
42
A novel ubiquitin ligase is deficient in Fanconi anemia. 53 62 5
12973351 2003
43
Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations. 53 62 5
12827451 2003
44
Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants. 53 62 5
12444097 2002
45
Fanconi anemia and DNA repair. 53 62 57
11673408 2001
46
The fanconi anemia proteins FANCA and FANCG stabilize each other and promote the nuclear accumulation of the Fanconi anemia complex. 53 62 5
11050007 2000
47
The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG. 53 62 5
11063725 2000
48
Fanconi anemia A due to a novel frameshift mutation in hotspot motifs: lack of FANCA protein. 53 62 5
10862090 2000
49
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. 53 62 5
10807541 2000
50
Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex. 53 62 5
10373536 1999

Variations for Fanconi Anemia, Complementation Group a

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

5 (show top 50) (show all 9447)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FANCA NM_000135.2(FANCA):c.1007_3066del DEL Pathogenic
3445 GRCh37: 16:89817632-89861789
GRCh38: 16:89751224-89795381
2 FANCA NM_000135.4(FANCA):c.1606del (p.Ser536fs) DEL Pathogenic
3446 rs587776570 GRCh37: 16:89849287-89849287
GRCh38: 16:89782879-89782879
3 FANCA NM_000135.4(FANCA):c.513G>A (p.Trp171Ter) SNV Pathogenic
3447 rs121907930 GRCh37: 16:89877124-89877124
GRCh38: 16:89810716-89810716
4 FANCC NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) INDEL Pathogenic
127540 rs587779904 GRCh37: 9:97934415-97934420
GRCh38: 9:95172133-95172138
5 FANCI NM_001113378.2(FANCI):c.507G>A (p.Trp169Ter) SNV Pathogenic
238329 rs878854181 GRCh37: 15:89806653-89806653
GRCh38: 15:89263422-89263422
6 FANCA NM_000135.4(FANCA):c.295C>T (p.Gln99Ter) SNV Pathogenic
Pathogenic
370361 rs1057516430 GRCh37: 16:89877468-89877468
GRCh38: 16:89811060-89811060
7 SLX4 NC_000016.10:g.(?_3608430)_(3609566_?)del DEL Pathogenic
417419 GRCh37: 16:3658431-3659567
GRCh38: 16:3608430-3609566
8 FANCI and overlap with 1 gene(s) NC_000015.10:g.(?_89247629)_(89317131_?)del DEL Pathogenic
417426 GRCh37: 15:89790860-89860362
GRCh38: 15:89247629-89317131
9 FANCA NC_000016.10:g.(?_89782853)_(89784970_?)del DEL Pathogenic
456071 GRCh37:
GRCh38: 16:89782853-89784970
10 FANCA NC_000016.10:g.(?_89752138)_(89792547_?)del DEL Pathogenic
417423 GRCh37: 16:89818546-89858955
GRCh38: 16:89752138-89792547
11 FANCA NC_000016.10:g.(?_89775736)_(89775821_?)del DEL Pathogenic
456070 GRCh37: 16:89842144-89842229
GRCh38: 16:89775736-89775821
12 FANCA NC_000016.10:g.(?_89791397)_(89792553_?)del DEL Pathogenic
456072 GRCh37:
GRCh38: 16:89791397-89792553
13 FANCC, AOPEP NM_000136.3(FANCC):c.1312_1329+68dup DUP Pathogenic
456154 rs1554829415 GRCh37: 9:97873676-97873677
GRCh38: 9:95111394-95111395
14 overlap with 7 genes NC_000003.12:g.(?_10064723)_(10146642_?)del DEL Pathogenic
526503 GRCh37: 3:10106407-10188326
GRCh38: 3:10064723-10146642
15 overlap with 5 genes NC_000016.10:g.(?_89761943)_(89920218_?)del DEL Pathogenic
526504 GRCh37: 16:89828351-89986626
GRCh38: 16:89761943-89920218
16 FANCA and overlap with 1 gene(s) NC_000016.10:g.(?_89767135)_(89816621_?)del DEL Pathogenic
526505 GRCh37: 16:89833543-89883029
GRCh38: 16:89767135-89816621
17 FANCA NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) SNV Pathogenic
Uncertain Significance
551354 rs1184639006 GRCh37: 16:89869741-89869741
GRCh38: 16:89803333-89803333
18 FANCA NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter) SNV Pathogenic
552462 rs927630499 GRCh37: 16:89825096-89825096
GRCh38: 16:89758688-89758688
19 FANCA NM_000135.4(FANCA):c.549G>A (p.Trp183Ter) SNV Pathogenic
Pathogenic
554024 rs758528624 GRCh37: 16:89874749-89874749
GRCh38: 16:89808341-89808341
20 FANCA NM_000135.4(FANCA):c.2172dup (p.Ser725fs) DUP Pathogenic
Pathogenic
554995 rs1555547955 GRCh37: 16:89837021-89837022
GRCh38: 16:89770613-89770614
21 FANCA NM_000135.4(FANCA):c.2602-2A>T SNV Pathogenic
Pathogenic
Uncertain Significance
555572 rs1555545592 GRCh37: 16:89831476-89831476
GRCh38: 16:89765068-89765068
22 FANCA NM_000135.4(FANCA):c.1359+1G>C SNV Pathogenic
556465 rs1555561294 GRCh37: 16:89857810-89857810
GRCh38: 16:89791402-89791402
23 FANCA and overlap with 1 gene(s) NC_000016.10:g.(?_89814514)_(89816621_?)del DEL Pathogenic
584062 GRCh37: 16:89880922-89883029
GRCh38: 16:89814514-89816621
24 FANCA NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro) SNV Pathogenic
623180 rs1567621042 GRCh37: 16:89839714-89839714
GRCh38: 16:89773306-89773306
25 FANCA NM_000135.4(FANCA):c.2533_2536del (p.Leu845fs) MICROSAT Pathogenic
Pathogenic
Pathogenic
623181 rs763378933 GRCh37: 16:89833614-89833617
GRCh38: 16:89767206-89767209
26 FANCA NM_000135.4(FANCA):c.2317-2A>G SNV Pathogenic
619960 rs1567618264 GRCh37: 16:89836434-89836434
GRCh38: 16:89770026-89770026
27 FANCL and overlap with 1 gene(s) NC_000002.12:g.(?_58159755)_(58241323_?)del DEL Pathogenic
639373 GRCh37: 2:58386890-58468458
GRCh38: 2:58159755-58241323
28 FANCA NC_000016.10:g.(?_89764880)_(89773394_?)del DEL Pathogenic
644835 GRCh37: 16:89831288-89839802
GRCh38: 16:89764880-89773394
29 FANCA NM_000135.4(FANCA):c.294_295delinsTT (p.Leu98_Gln99delinsPheTer) INDEL Pathogenic
644950 rs1598191053 GRCh37: 16:89877468-89877469
GRCh38: 16:89811060-89811061
30 FANCA and overlap with 2 gene(s) NC_000016.10:g.(?_89738591)_(89816625_?)del DEL Pathogenic
652972 GRCh37: 16:89804999-89883033
GRCh38: 16:89738591-89816625
31 FANCA NG_011706.1:g.13291_71928del DEL Pathogenic
632555 GRCh37: 16:89816138-89874775
GRCh38: 16:89749731-89808368
32 FANCA NG_011706.1:g.10587_63081del DEL Pathogenic
632556 GRCh37: 16:89824985-89877479
GRCh38: 16:89758580-89811074
33 FANCC, AOPEP NM_000136.3(FANCC):c.1430_1431del (p.Thr477fs) MICROSAT Pathogenic
664629 rs1588029220 GRCh37: 9:97869450-97869451
GRCh38: 9:95107168-95107169
34 FANCC NM_000136.3(FANCC):c.519del (p.Arg173fs) DEL Pathogenic
584740 rs1564719070 GRCh37: 9:97933363-97933363
GRCh38: 9:95171081-95171081
35 SLX4 NM_032444.4(SLX4):c.4405del (p.Ser1469fs) DEL Pathogenic
803194 rs1596519854 GRCh37: 16:3639234-3639234
GRCh38: 16:3589233-3589233
36 SLX4 NM_032444.4(SLX4):c.4391_4403del (p.Ser1464fs) DEL Pathogenic
803195 rs1596519879 GRCh37: 16:3639236-3639248
GRCh38: 16:3589235-3589247
37 FANCA NC_000016.10:g.(?_89791403)_(89796018_?)del DEL Pathogenic
832197 GRCh37: 16:89857811-89862426
GRCh38:
38 FANCA NC_000016.10:g.(?_89752128)_(89808377_?)del DEL Pathogenic
832273 GRCh37: 16:89818536-89874785
GRCh38:
39 FANCA NC_000016.10:g.(?_89748641)_(89765076_?)del DEL Pathogenic
832294 GRCh37: 16:89815049-89831484
GRCh38:
40 FANCA NC_000016.10:g.(?_89791393)_(89796028_?)del DEL Pathogenic
832475 GRCh37: 16:89857801-89862436
GRCh38:
41 FANCA NC_000016.10:g.(?_89748649)_(89758715_?)del DEL Pathogenic
832641 GRCh37: 16:89815057-89825123
GRCh38:
42 FANCA NC_000016.10:g.(?_89814510)_(89816625_?)del DEL Pathogenic
832886 GRCh37: 16:89880918-89883033
GRCh38:
43 FANCA NC_000016.10:g.(?_89799156)_(89799648_?)del DEL Pathogenic
833217 GRCh37: 16:89865564-89866056
GRCh38:
44 FANCA NM_000135.4(FANCA):c.275C>G (p.Ser92Ter) SNV Pathogenic
Pathogenic
803293 rs1183559927 GRCh37: 16:89880936-89880936
GRCh38: 16:89814528-89814528
45 FANCA NC_000016.10:g.(?_89758567)_(89784974_?)del DEL Pathogenic
831544 GRCh37: 16:89824975-89851382
GRCh38:
46 FANCA NC_000016.10:g.(?_89808284)_(89816616_?)del DEL Pathogenic
831679 GRCh37: 16:89874692-89883024
GRCh38:
47 FANCA NC_000016.10:g.(?_89810697)_(89816616_?)del DEL Pathogenic
831925 GRCh37: 16:89877105-89883024
GRCh38:
48 FANCA NM_000135.4(FANCA):c.284-1328_705del DEL Pathogenic
Pathogenic
850409 GRCh37: 16:89871692-89878807
GRCh38: 16:89805284-89812399
49 FANCA NM_000135.4(FANCA):c.447dup (p.Glu150fs) DUP Pathogenic
936882 rs2040846500 GRCh37: 16:89877189-89877190
GRCh38: 16:89810781-89810782
50 FANCM NM_020937.4(FANCM):c.4304_4305insSVAelement INSERT Pathogenic
870248 GRCh37: 14:45650714-45650715
GRCh38: 14:45181511-45181512

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

73 (show all 27)
# Symbol AA change Variation ID SNP ID
1 FANCA p.Leu244Phe VAR_009640
2 FANCA p.Arg435Cys VAR_009642 rs148473140
3 FANCA p.His492Arg VAR_009643 rs925457555
4 FANCA p.Leu817Pro VAR_009647
5 FANCA p.Leu845Pro VAR_009648 rs1173704265
6 FANCA p.Arg1055Leu VAR_009649 rs1429943036
7 FANCA p.His1110Pro VAR_009650
8 FANCA p.Arg1117Gly VAR_009651 rs149277003
9 FANCA p.Gln1128Glu VAR_009652 rs1439817346
10 FANCA p.Thr1131Ala VAR_009653 rs574034197
11 FANCA p.Trp1302Arg VAR_009656 rs878853665
12 FANCA p.His1417Asp VAR_009658 rs17227403
13 FANCA p.Asp598Asn VAR_017497
14 FANCA p.Ser858Arg VAR_017498 rs17233141
15 FANCA p.Arg1055Trp VAR_017499 rs753063086
16 FANCA p.Leu1082Pro VAR_017500
17 FANCA p.Ser1088Phe VAR_017501 rs17233497
18 FANCA p.Phe1262Leu VAR_017502 rs1555534579
19 FANCA p.Asp1359Tyr VAR_017503 rs1555533313
20 FANCA p.Met1360Ile VAR_017504 rs1555533300
21 FANCA p.Pro1324Leu VAR_017505 rs182657062
22 FANCA p.Leu210Arg VAR_038012
23 FANCA p.Leu660Pro VAR_038013 rs1567621042
24 FANCA p.Tyr843Asp VAR_038015 rs374030577
25 FANCA p.Gln869Pro VAR_038016 rs780825099
26 FANCA p.Leu1249Pro VAR_038019 rs753316789
27 FANCA p.Arg1400His VAR_038021 rs149851163

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

6
# 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 GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.16 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCC
2
Show member pathways
12.75 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCC
3
Show member pathways
12.73 FANCI FANCD2 FANCC BRIP1 BRCA1
4
Show member pathways
12.69 FANCL FANCD2 BRIP1 BRCA2 BRCA1
5
Show member pathways
12.54 FANCG FANCF FANCE FANCD2 FANCC FANCA
6
Show member pathways
12.53 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCD2
7 12.38 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCD2
8
Show member pathways
12.12 SLX4 BRIP1 BRCA2 BRCA1
9 11.75 FANCI FANCD2 FANCA BRIP1 BRCA2 BRCA1
10
Show member pathways
11.66 FANCD2 BRCA2 BRCA1
11
Show member pathways
11.53 BRCA1 BRCA2 FANCA FANCC FANCD2 FANCE
12 11.28 FANCL FANCD2 BRCA1
13 10.69 BRCA1 FANCA FANCC FANCD2 FANCE FANCF

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 10.53 AOPEP BRCA1 BRCA2 BRIP1 FANCA FANCB
2 nucleoplasm GO:0005654 10.51 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCC
3 chromatin GO:0000785 10.2 FANCA FANCB FANCC FANCD2 FANCE FANCF
4 nuclear ubiquitin ligase complex GO:0000152 9.62 BRCA2 BRCA1
5 BRCA1-B complex GO:0070532 9.56 BRIP1 BRCA1
6 DNA repair complex GO:1990391 9.56 FANCI FANCD2 BRCA2 BRCA1
7 Fanconi anaemia nuclear complex GO:0043240 9.53 FANCM FANCL FANCG FANCF FANCE FANCC

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 10.18 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCC
2 protein monoubiquitination GO:0006513 10.1 FANCA FANCB FANCC FANCE FANCF FANCG
3 double-strand break repair GO:0006302 9.99 BRIP1 BRCA2 BRCA1
4 nucleotide-excision repair GO:0006289 9.92 SLX4 FANCC BRIP1 BRCA2
5 cellular response to DNA damage stimulus GO:0006974 9.91 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCC
6 homologous recombination GO:0035825 9.8 BRIP1 BRCA1
7 regulation of regulatory T cell differentiation GO:0045589 9.78 FANCD2 FANCA
8 gamete generation GO:0007276 9.77 FANCL FANCD2 FANCC
9 double-strand break repair involved in meiotic recombination GO:1990918 9.76 FANCD2 BRIP1
10 regulation of CD40 signaling pathway GO:2000348 9.71 FANCA FANCD2
11 interstrand cross-link repair GO:0036297 9.66 FANCA FANCB FANCC FANCD2 FANCE FANCF
12 chordate embryonic development GO:0043009 9.61 BRCA2 BRCA1

Sources for Fanconi Anemia, Complementation Group a

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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