MCID: FNC027
MIFTS: 78

Fanconi Anemia, Complementation Group a

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

Aliases & Classifications for Fanconi Anemia, Complementation Group a

MalaCards integrated aliases for Fanconi Anemia, Complementation Group a:

Name: Fanconi Anemia, Complementation Group a 53 71 28 13 13 37 69
Fanconi Anemia 53 12 72 23 49 24 55 71 36 28 41 14 69 59
Fanconi Pancytopenia 12 72 23 49 24 55
Fanconi's Anemia 37 12 49
Fanca 53 12 71
Fa 53 24 71
Fanconi Panmyelopathy 12 24
Estren-Dameshek Variant of Fanconi Pancytopenia 71
Estren-Dameshek Variant of Fanconi Anemia 71
Fanconi Anemia Complementation Group a 12
Fanconi Anemia Estren-Dameshek Variant 71
Fanconi Hypoplastic Anemia 24
Fanconi Anemia; Fa 53
Fanconis Anemia 51

Characteristics:

Orphanet epidemiological data:

55
fanconi anemia
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 53 227650
Disease Ontology 12 DOID:0111095 DOID:13636
ICD10 32 D61.09
MeSH 41 D005199
NCIt 46 C62505
SNOMED-CT 64 30575002
Orphanet 55 ORPHA84
MESH via Orphanet 42 D005199
UMLS via Orphanet 70 C0015625
ICD10 via Orphanet 33 D61.0
KEGG 36 H00238

Summaries for Fanconi Anemia, Complementation Group a

OMIM : 53 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)

MalaCards based summary : Fanconi Anemia, Complementation Group a, also known as fanconi anemia, is related to fanconi anemia, complementation group d2 and maternal uniparental disomy of chromosome 16, and has symptoms including hypertelorism, frontal bossing and finger syndactyly. An important gene associated with Fanconi Anemia, Complementation Group a is FANCA (Fanconi Anemia Complementation Group A), and among its related pathways/superpathways are Fanconi anemia pathway and DNA Double-Strand Break Repair. The drugs alemtuzumab and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include Blood, bone and bone marrow, and related phenotypes are Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 Fanconi anemiais 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.  Last updated: 12/13/2016

Genetics Home Reference : 24 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.

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.

PubMed Health : 59
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.

GeneReviews: NBK1401

Related Diseases for Fanconi Anemia, Complementation Group a

Diseases in the Fanconi Anemia, Complementation Group a family:

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 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

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group d2 33.4 BRCA2 FANCD2 RAD51
2 maternal uniparental disomy of chromosome 16 32.7 FANCA SLX4
3 squamous cell carcinoma, head and neck 32.6 FANCA FANCC FANCE FANCF FANCL
4 fanconi anemia, complementation group f 32.6 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
5 fanconi anemia, complementation group e 32.6 FANCA FANCC FANCD2 FANCE FANCF FANCG
6 fanconi anemia, complementation group b 32.5 FANCA FANCB FANCC FANCD2 FANCE FANCF
7 deficiency anemia 32.3 FANCA FANCC FANCD2
8 congenital hypoplastic anemia 32.2 BRCA2 BRIP1 FANCA FANCC FANCD2 FANCE
9 tracheoesophageal fistula 32.1 BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC
10 autoimmune lymphoproliferative syndrome 11.7
11 fetal alcohol syndrome 11.7
12 friedreich ataxia 1 11.5
13 fetal alcohol spectrum disorder 11.3
14 seckel syndrome 11.0
15 fanconi anemia, complementation group t 11.0
16 hereditary site-specific ovarian cancer syndrome 10.8 BRCA1 BRCA2
17 tracheoesophageal fistula with or without esophageal atresia 10.8 BRCA2 PALB2
18 brca1 hereditary breast and ovarian cancer syndrome 10.8 BRCA1 BRCA2
19 bap1 tumor predisposition syndrome 10.7 BRCA2 PALB2
20 breast reconstruction 10.7 BRCA1 BRCA2
21 bilateral breast cancer 10.7 BRCA1 BRCA2 RAD51
22 tuberculous salpingitis 10.7 BRCA1 BRCA2
23 warsaw breakage syndrome 10.7 BRCA1 BRIP1 FANCM
24 sporadic breast cancer 10.7 BRCA1 BRCA2 FANCD2 RAD51
25 nosophobia 10.7 BRCA1 BRCA2
26 cancerophobia 10.7 BRCA1 BRCA2
27 bloom syndrome 10.7 BRCA1 FANCM RAD51
28 female breast cancer 10.7 BRCA2 ERCC4 PALB2
29 breast-ovarian cancer, familial 1 10.7 BRCA1 BRCA2
30 uterine corpus serous adenocarcinoma 10.7 BRCA1 BRCA2
31 lynch syndrome i 10.7 BRCA1 BRCA2
32 female reproductive organ cancer 10.6 BRCA1 BRCA2 RAD51C
33 fallopian tube adenocarcinoma 10.6 BRCA1 BRCA2
34 synchronous bilateral breast carcinoma 10.6 BRCA1 BRCA2
35 hereditary breast ovarian cancer syndrome 10.6 BRCA1 BRCA2 BRIP1 PALB2 RAD51 RAD51C
36 tumor predisposition syndrome 10.6 BRCA2 PALB2
37 peritoneum cancer 10.6 BRCA1 BRCA2
38 glycogen-rich clear cell breast carcinoma 10.4 BRCA1 BRCA2
39 premature menopause 10.3 BRCA1 BRCA2
40 fanconi anemia, complementation group g 10.2
41 leukemia 9.9
42 allergic hypersensitivity disease 9.9
43 squamous cell carcinoma 9.9
44 ovarian cancer 9.8
45 lung cancer 9.8
46 pancreatic cancer 9.8
47 melanoma 9.8

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

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Skin:
anemic pallor
hyperpigmentation
cafe-au-lait spots
bruisability
pigmentary changes

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

Endocrine Features:
hypergonadotropic hypogonadism

Head And Neck Ears:
deafness
ear anomaly

Skeletal Limbs:
radial aplasia

Growth Height:
small stature

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

Head And Neck Head:
microcephaly

Head And Neck Eyes:
strabismus
microphthalmia

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

Neurologic Central Nervous System:
mental retardation

Growth Weight:
low birth weight

Skeletal Hands:
thumb hypoplasia
thumb deformity
thumb aplasia
duplicated thumb


Clinical features from OMIM:

227650

Human phenotypes related to Fanconi Anemia, Complementation Group a:

55 31 (show top 50) (show all 129)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
2 frontal bossing 55 31 occasional (7.5%) Occasional (29-5%) HP:0002007
3 finger syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0006101
4 high palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000218
5 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
6 ptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000508
7 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
8 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
9 hyperreflexia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001347
10 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
11 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
12 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
13 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
14 umbilical hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001537
15 pes planus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001763
16 microcephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000252
17 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
18 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
19 renal insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0000083
20 cranial nerve paralysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0006824
21 hypertrophic cardiomyopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001639
22 anemia 55 31 Very frequent (99-80%) HP:0001903
23 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
24 micrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000347
25 myelodysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002863
26 weight loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0001824
27 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
28 patent ductus arteriosus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001643
29 epicanthus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000286
30 dolichocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000268
31 reduced bone mineral density 55 31 occasional (7.5%) Occasional (29-5%) HP:0004349
32 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
33 arteriovenous malformation 55 31 occasional (7.5%) Occasional (29-5%) HP:0100026
34 intrauterine growth retardation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001511
35 atrial septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001631
36 external ear malformation 55 31 occasional (7.5%) Occasional (29-5%) HP:0008572
37 renal hypoplasia/aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0008678
38 thrombocytopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001873
39 hypopigmented skin patches 55 31 hallmark (90%) Very frequent (99-80%) HP:0001053
40 ventriculomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002119
41 hypogonadism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000135
42 aganglionic megacolon 55 31 occasional (7.5%) Occasional (29-5%) HP:0002251
43 hip dislocation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002827
44 microphthalmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000568
45 hypospadias 55 31 occasional (7.5%) Occasional (29-5%) HP:0000047
46 clinodactyly of the 5th finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0004209
47 abnormality of femur morphology 55 31 occasional (7.5%) Occasional (29-5%) HP:0002823
48 abnormality of chromosome stability 55 31 hallmark (90%) Very frequent (99-80%) HP:0003220
49 multiple cafe-au-lait spots 55 31 occasional (7.5%) Occasional (29-5%) HP:0007565
50 irregular hyperpigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007400

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 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.92 BRCA1 RAD51
2 Decreased homologous recombination repair frequency GR00151-A-2 10.92 BRCA1 RAD51
3 Decreased homologous recombination repair frequency GR00236-A-1 10.92 BRCA1 BRCA2 FANCA PALB2 RAD51 FANCI
4 Decreased homologous recombination repair frequency GR00236-A-2 10.92 BRCA1 BRCA2 FANCA PALB2 RAD51 FANCI
5 Decreased homologous recombination repair frequency GR00236-A-3 10.92 BRCA1 BRCA2 FANCA PALB2 RAD51 RFWD3
6 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 10.27 RFWD3 FANCC FANCF FANCL
7 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 10.27 RFWD3 FANCC FANCF FANCL
8 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.11 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCC
9 Increased gamma-H2AX phosphorylation GR00053-A 9.91 BRIP1 ERCC4 FANCA FANCC FANCE FANCI
10 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.85 FANCD2 FANCA FANCM PALB2 UBE2T BRCA1
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.85 FANCD2 FANCA FANCM PALB2 UBE2T RAD51
12 Decreased viability with cisplatin GR00101-A-4 9.72 BRCA1 BRCA2 BRIP1 RAD51 RFWD3
13 Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation GR00242-A-4 9.71 FANCC FANCF FANCL RFWD3
14 Synthetic lethal with cisplatin GR00101-A-1 9.26 BRCA1 BRCA2 BRIP1 RAD51

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
2 endocrine/exocrine gland MP:0005379 10.17 FANCL FANCM RAD51C RFWD3 SLX4 BRCA1
3 growth/size/body region MP:0005378 10.03 FANCD2 FANCF FANCL PALB2 RAD51 RAD51C
4 mortality/aging MP:0010768 10 BRCA1 BRCA2 ERCC4 FANCA FANCD2 FANCF
5 neoplasm MP:0002006 9.56 BRCA1 BRCA2 BRIP1 FANCA FANCD2 FANCF
6 reproductive system MP:0005389 9.47 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCC

Drugs & Therapeutics for Fanconi Anemia, Complementation Group a

PubMedHealth treatment related to Fanconi Anemia, Complementation Group a: 59

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 106)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1 216503-57-0
2
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 55-98-1 2478
3
Cyclophosphamide Approved, Investigational Phase 2, Phase 3, Phase 1, Early Phase 1 50-18-0, 6055-19-2 2907
4
Fludarabine Approved Phase 2, Phase 3, Phase 1, Early Phase 1 21679-14-1, 75607-67-9 30751
5
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 24356-66-9 21704 32326
6
Cysteamine Approved, Investigational Phase 3,Phase 1,Phase 2,Not Applicable 60-23-1 6058
7
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
8
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3,Phase 1 128794-94-5 5281078
9
Mycophenolic acid Approved Phase 2, Phase 3,Phase 1 24280-93-1 446541
10
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
11
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 46835353 6436030 5284616
12 Alkylating Agents Phase 2, Phase 3, Phase 1, Early Phase 1
13 Anti-Infective Agents Phase 2, Phase 3, Phase 1, Early Phase 1
14 Antimetabolites Phase 2, Phase 3, Phase 1, Early Phase 1
15 Antimetabolites, Antineoplastic Phase 2, Phase 3, Phase 1, Early Phase 1
16 Antirheumatic Agents Phase 2, Phase 3, Phase 1, Early Phase 1
17 Antiviral Agents Phase 2, Phase 3,Phase 1,Early Phase 1
18 Immunosuppressive Agents Phase 2, Phase 3, Phase 1, Early Phase 1
19 Anti-Bacterial Agents Phase 2, Phase 3,Phase 1
20 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 1
21 Antifungal Agents Phase 2, Phase 3,Phase 1
22 Antitubercular Agents Phase 2, Phase 3,Phase 1
23
Melphalan Approved Phase 2,Phase 1 148-82-3 460612 4053
24
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1 83-43-2 6741
25
Prednisolone Approved, Vet_approved Phase 2,Phase 1 50-24-8 5755
26
Lenograstim Approved, Investigational Phase 1, Phase 2 135968-09-1
27
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
28
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
29
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
30
Iron Approved Phase 2 7439-89-6 23925
31
Deferiprone Approved Phase 2 30652-11-0 2972
32
Tacrolimus Approved, Investigational Phase 2,Phase 1 104987-11-3 445643 439492
33 Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
34
Metformin Approved Phase 2 657-24-9 4091 14219
35
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
36
Fosphenytoin Approved, Investigational Phase 1, Phase 2 93390-81-9 56339
37
Phenytoin Approved, Vet_approved Phase 1, Phase 2 57-41-0 1775
38 Talazoparib Investigational Phase 2 1207456-01-6
39 Antiemetics Phase 2,Phase 1
40 Anti-Inflammatory Agents Phase 2,Phase 1
41 Antilymphocyte Serum Phase 2,Phase 1
42 Antineoplastic Agents, Hormonal Phase 2,Phase 1
43 Autonomic Agents Phase 2,Phase 1
44 Gastrointestinal Agents Phase 2,Phase 1
45 glucocorticoids Phase 2,Phase 1
46 Hormone Antagonists Phase 2,Phase 1
47 Hormones Phase 2,Phase 1
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
49 Methylprednisolone acetate Phase 2,Phase 1
50 Methylprednisolone Hemisuccinate Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 82)

# Name Status NCT ID Phase Drugs
1 Fanconi Syndrome Due to ARVs in HIV-Infected Persons Completed NCT00499187 Phase 4
2 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
3 Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis Completed NCT01000961 Phase 3 Cystagon® (Cysteamine Bitartrate);Cysteamine Bitartrate Delayed-release Capsules (RP103)
4 TBI Dose De-escalation for Fanconi Anemia Recruiting NCT00352976 Phase 2, Phase 3 Cyclophosphamide;Fludarabine;Mycophenolate Mofetil;Sirolimus
5 Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
6 Multicenter Transplant Study for Fanconi Anemia Completed NCT01082133 Phase 2 Chemotherapy
7 Hematopoietic Stem Cell Transplant for Fanconi Anemia Completed NCT01071239 Phase 2
8 Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and AMD3100 Completed NCT00479115 Phase 1, Phase 2 AMD3100
9 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.
10 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
11 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
12 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
13 Bortezomib Followed by High-Dose Melphalan and Bortezomib as Conditioning Regimen for Tandem Stem Cell Transplants Completed NCT00307086 Phase 2 Bortezomib;Melphalan
14 Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remi Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
15 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
16 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
17 Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Completed NCT00872729 Phase 1, Phase 2 Cystagon®;RP103
18 A Protocol to Allow Treatment With ICL670 for Patients With or at Risk of Life-threatening Complications of Transfusional Iron Overload Who Are Unable to Tolerate Other Iron Chelators Because of Documented Severe Toxicity Completed NCT01044186 Phase 2 ICL670
19 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia Recruiting NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
20 Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and Plerixafor Recruiting NCT02678533 Phase 1, Phase 2 G-CSF;Plerixafor
21 Cytoxan, Fludara, and Antithymocyte Globulin Conditioning Followed By Stem Cell Transplant in Treating Fanconi Anemia Recruiting NCT00630253 Phase 1, Phase 2 Cyclophosphamide;Fludarabine;Methylprednisolone;Filgrastim;Cyclosporine;Mycophenolate Mofetil
22 Clinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1 Recruiting NCT02931071 Phase 2 filgrastim;plerixafor
23 HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy Recruiting NCT02143830 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;rabbit ATG;G-CSF
24 Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A Recruiting NCT03157804 Phase 1, Phase 2 Plerixafor
25 Phase II Talazoparib in BRCA1 +BRCA2 Wild-Type &Triple-Neg /HER2-Negative Breast Cancer /SolidTumors Recruiting NCT02401347 Phase 2 Talazoparib Tosylate
26 A Study of LY2606368 (Prexasertib) in Patients With Solid Tumors With Replicative Stress or Homologous Repair Deficiency Recruiting NCT02873975 Phase 2 LY2606368
27 Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant, Mycophenolate Mofetil, and Cyclosporine in Treating Patients With Fanconi Anemia Active, not recruiting NCT00453388 Phase 2 Cyclophosphamide;Cyclosporine;Fludarabine Phosphate;Mycophenolate Mofetil
28 Carfilzomib + High Dose Melphalan as Preparative Regimen for Autologous Hematopoietic Stem Cell Transplantation Active, not recruiting NCT01690143 Phase 1, Phase 2 Carfilzomib;Melphalan
29 CD34+Selection for Partially Matched Family or Matched Unrelated Adult Donor Transplant Active, not recruiting NCT01049854 Phase 2 Full Intensity with TBI;Full Intensity;Reduced Intensity;Reduced Intensity (Fanconi)
30 Study of the PARP Inhibitor BMN 673 in Advanced Cancer Patients With Somatic Alterations in BRCA1/2, Mutations/Deletions in PTEN or PTEN Loss, a Homologous Recombination Defect, Mutations/Deletions in Other BRCA Pathway Genes and Germline Mutation in BRCA Active, not recruiting NCT02286687 Phase 2 Talazoparib Tosylate
31 Pilot Study of Metformin for Patients With Fanconi Anemia Not yet recruiting NCT03398824 Phase 2 metformin HCl
32 Eltrombopag for People With Fanconi Anemia Not yet recruiting NCT03206086 Phase 2 Eltrombopag
33 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Not yet recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
34 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
35 Stem Cell Transplantation for Fanconi Anemia Terminated NCT00167206 Phase 1, Phase 2 Cyclophosphamide, Fludarabine
36 Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia Terminated NCT00590460 Phase 1, Phase 2 Fludarabine
37 Stem Cell Transplant for Hematologic Diseases Terminated NCT00058825 Phase 1, Phase 2 Fludarabine;FK506 (Tacrolimus) or Cyclosporine
38 Double Cord Blood Transplantation Terminated NCT00801931 Phase 1, Phase 2 TBI, Thiotepa, Cyclophosphamide, ATG;Busulfan, Melphalan, Rabbit ATG;Busulfan, Fludarabine, Alemtuzumab;Busulfan, Fludarabine, Rabbit ATG;Fludarabine, Cyclophosphamide, ATG;Busulfan, Cyclosphosphamide, Rabbit ATG,
39 Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia Unknown status NCT00006127 Phase 1 amifostine
40 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
41 Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia Completed NCT00243399 Phase 1 Oxandrolone
42 Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi's Anemia Completed NCT00317876 Phase 1 cyclophosphamide;cyclosporine;methotrexate
43 Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia Completed NCT00272857 Phase 1
44 Gene Therapy for the Treatment of Fanconi's Anemia Type C Completed NCT00001399 Phase 1 Transduced CD34+ Cells
45 Low-Dose Total-Body Irradiation and Fludarabine Phosphate Followed by Unrelated Donor Stem Cell Transplant in Treating Patients With Fanconi Anemia Completed NCT00093743 Phase 1 fludarabine phosphate;cyclosporine;mycophenolate mofetil
46 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1 Quercetin (dietary supplement)
47 Gene Therapy for Fanconi Anemia Recruiting NCT01331018 Phase 1 Methylprednisolone;Plerixafor;Prednisone
48 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
49 Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT Terminated NCT00586274 Phase 1 Fludarabine
50 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Terminated NCT02231710 Phase 1

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

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

38
Bone, Bone Marrow, Kidney, Skin, Myeloid, Testis, Uterus
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 584)
# Title Authors Year
1
Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML. ( 29416752 )
2018
2
Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia. ( 28766551 )
2017
3
Fanconi anemia FANCD2 and FANCI proteins regulate the nuclear dynamics of splicing factors. ( 29030393 )
2017
4
Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations. ( 27714961 )
2017
5
Hematopoietic cell transplantation in Fanconi anemia and dyskeratosis congenita: A minireview. ( 28644950 )
2017
6
Constitutive role of the Fanconi anemia D2 gene in the replication stress response. ( 29021208 )
2017
7
A plea to provide best evidence in trials under sample-size restrictions: the example of pioglitazone to resolve leukoplakia and erythroplakia in Fanconi anemia patients. ( 28545482 )
2017
8
Genomic amplification of Fanconi anemia complementation group A (FancA) in head and neck squamous cell carcinoma (HNSCC): Cellular mechanisms of radioresistance and clinical relevance. ( 27867017 )
2017
9
Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia. ( 28691929 )
2017
10
Fanconi anemia: correlating central nervous system malformations and genetic complementation groups. ( 28283722 )
2017
11
Allosteric targeting of the Fanconi anemia ubiquitin-conjugating enzyme Ube2T by fragment screening. ( 28437106 )
2017
12
Characterization of two novel FANCG mutations in Indian Fanconi anemia patients. ( 28024295 )
2017
13
Fanconi Anemia and Laron Syndrome. ( 28502327 )
2017
14
Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia. ( 28419882 )
2017
15
A systems biology approach for elucidating the interaction of curcumin with Fanconi anemia FANC G protein and the key disease targets of leukemia. ( 27608133 )
2017
16
Population pharmacokinetics of fludarabine in patients with aplastic anemia and Fanconi anemia undergoing allogeneic hematopoietic stem cell transplantation. ( 28481355 )
2017
17
Mechanism of Ubiquitination and Deubiquitination in the Fanconi Anemia Pathway. ( 27986371 )
2017
18
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia. ( 29278735 )
2017
19
Alpha-fetoprotein and Fanconi Anemia: Relevance to DNA Repair and Breast Cancer Susceptibility. ( 27690720 )
2017
20
Aldehyde dehydrogenase 2 in aplastic anemia, Fanconi anemia and hematopoietic stem cells. ( 27650066 )
2016
21
Replication Protein A (RPA) deficiency activates the Fanconi anemia DNA repair pathway. ( 27398742 )
2016
22
Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia. ( 26841305 )
2016
23
Fanconi anemia genes in lung adenocarcinoma- a pathway-wide study on cancer susceptibility. ( 26842001 )
2016
24
Fanconi anemia in 55-year-old identical twins first presenting as fatal post-chemotherapy pancytopenia. ( 27427815 )
2016
25
TGF-I^ Inhibition Rescues Hematopoietic Stem Cell Defects and Bone Marrow Failure in Fanconi Anemia. ( 27053300 )
2016
26
Cells Deficient in the Fanconi Anemia Protein FANCD2 are Hypersensitive to the Cytotoxicity and DNA Damage Induced by Coffee and Caffeic Acid. ( 27399778 )
2016
27
Fanconi Anemia and Fanconi Syndrome: Time to Correct the Misnomers. ( 27571122 )
2016
28
Novel FANCI mutations in Fanconi anemia with VACTERL association. ( 26590883 )
2016
29
Fanconi Anemia Concurrent with an Unusual Thumb Polydactyly: A Case Report. ( 27200401 )
2016
30
Biallelic inactivation of REV7 is associated with Fanconi anemia. ( 27500492 )
2016
31
I9Np63 activates the Fanconi anemia DNA repair pathway and limits the efficacy of cisplatin treatment in squamous cell carcinoma. ( 26819410 )
2016
32
Impaired TIP60-mediated H4K16 acetylation accounts for the aberrant chromatin accumulation of 53BP1 and RAP80 in Fanconi anemia pathway-deficient cells. ( 26446986 )
2016
33
Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes. ( 27428025 )
2016
34
BLM promotes the activation of Fanconi Anemia signaling pathway. ( 27083049 )
2016
35
Aurora A kinase is required for activation of the Fanconi anemia/BRCA pathway upon DNA damage. ( 27398318 )
2016
36
Forkhead transcription factor FoxF1 interacts with Fanconi anemia protein complexes to promote DNA damage response. ( 26625197 )
2016
37
The Fanconi anemia/BRCA pathway is involved in DNA interstrand cross-link repair of adriamycin-resistant leukemia cells. ( 24996439 )
2015
38
UHRF1 is a sensor for DNA interstrand crosslinks and recruits FANCD2 to initiate the Fanconi anemia pathway. ( 25801034 )
2015
39
IL-6, IL-8, MMP-2, MMP-9 are overexpressed in Fanconi anemia cells through a NF-I_B/TNF-I+ dependent mechanism. ( 25358651 )
2015
40
Outcomes of mismatched and unrelated donor hematopoietic stem cell transplantation in Fanconi anemia conditioned with chemotherapy only. ( 25862235 )
2015
41
Renal artery stenosis: An unusual etiology of hypertensive encephalopathy in a child with fanconi anemia. ( 26178556 )
2015
42
Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia. ( 26046368 )
2015
43
The Fanconi Anemia C Protein Binds to and Regulates Stathmin-1 Phosphorylation. ( 26466335 )
2015
44
Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival. ( 25243787 )
2015
45
Deficiency of UBE2T, the E2A Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia. ( 26119737 )
2015
46
RNA interferences targeting the Fanconi anemia/BRCA pathway upstream genes reverse cisplatin resistance in drug-resistant lung cancer cells. ( 26385482 )
2015
47
FANCD2, FANCJ and BRCA2 cooperate to promote replication fork recovery independently of the Fanconi Anemia core complex. ( 25659033 )
2015
48
FANCJ suppresses microsatellite instability and lymphomagenesis independent of the Fanconi anemia pathway. ( 26637282 )
2015
49
The Fanconi Anemia Pathway Protects Genome Integrity from R-loops. ( 26584049 )
2015
50
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. ( 25754594 )
2015

Variations for Fanconi Anemia, Complementation Group a

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

71 (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
8 FANCA p.Arg1055Leu VAR_009649
9 FANCA p.His1110Pro VAR_009650
10 FANCA p.Arg1117Gly VAR_009651 rs149277003
11 FANCA p.Gln1128Glu VAR_009652
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
21 FANCA p.Asp1359Tyr VAR_017503
22 FANCA p.Met1360Ile VAR_017504
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

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

6 (show top 50) (show all 123)
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCC NM_000136.2(FANCC): c.553C> T (p.Arg185Ter) single nucleotide variant Pathogenic rs121917783 GRCh37 Chromosome 9, 97912338: 97912338
2 FANCC NM_000136.2(FANCC): c.456+4A> T single nucleotide variant Pathogenic rs104886456 GRCh37 Chromosome 9, 97934315: 97934315
3 FANCC NM_000136.2(FANCC): c.37C> T (p.Gln13Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917784 GRCh37 Chromosome 9, 98011537: 98011537
4 FANCC NM_000136.2(FANCC): c.1642C> T (p.Arg548Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886457 GRCh37 Chromosome 9, 97864024: 97864024
5 FANCC NM_000136.2(FANCC): c.67delG (p.Asp23Ilefs) deletion Pathogenic rs104886459 GRCh37 Chromosome 9, 98011507: 98011507
6 FANCA NM_000135.2(FANCA): c.3788_3790delTCT (p.Phe1263del) deletion Pathogenic rs397507553 GRCh37 Chromosome 16, 89807250: 89807252
7 BRCA1 NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp) single nucleotide variant Pathogenic rs55770810 GRCh37 Chromosome 17, 41215948: 41215948
8 FANCC NM_000136.2(FANCC): c.355_360delTCTCATinsA (p.Ser119Asnfs) indel Pathogenic rs587779904 GRCh37 Chromosome 9, 97934415: 97934420
9 FANCC NM_000136.2(FANCC): c.843+1G> A single nucleotide variant Likely pathogenic rs587779909 GRCh37 Chromosome 9, 97897627: 97897627
10 FANCA NM_000135.2(FANCA): c.862G> T (p.Glu288Ter) single nucleotide variant Pathogenic rs148100796 GRCh37 Chromosome 16, 89865605: 89865605
11 FANCA NM_000135.2(FANCA): c.3066+1G> T single nucleotide variant Pathogenic rs587783028 GRCh38 Chromosome 16, 89752137: 89752137
12 FANCC NM_000136.2(FANCC): c.1302dupT (p.Gly435Trpfs) duplication Pathogenic rs730881709 GRCh38 Chromosome 9, 95111490: 95111490
13 FANCC NM_000136.2(FANCC): c.487_490delGAGA (p.Glu163Ilefs) deletion Pathogenic/Likely pathogenic rs730881708 GRCh38 Chromosome 9, 95171110: 95171113
14 FANCC NM_000136.2(FANCC): c.319C> T (p.Gln107Ter) single nucleotide variant Pathogenic rs730881731 GRCh38 Chromosome 9, 95240675: 95240675
15 FANCG NM_004629.1(FANCG): c.1747G> T (p.Glu583Ter) single nucleotide variant Likely pathogenic rs786204205 GRCh37 Chromosome 9, 35074381: 35074381
16 FANCA NM_000135.2(FANCA): c.3403_3405delTTC (p.Phe1135del) deletion Pathogenic rs786204246 GRCh38 Chromosome 16, 89746834: 89746836
17 FANCA NM_000135.3(FANCA): c.2839dup (p.Ser947Phefs) duplication Pathogenic/Likely pathogenic rs756367276 GRCh38 Chromosome 16, 89761962: 89761962
18 FANCA NM_000135.2(FANCA): c.283+3A> C single nucleotide variant Pathogenic rs786204204 GRCh38 Chromosome 16, 89814517: 89814517
19 FANCA NM_000135.2(FANCA): c.97delG (p.Glu33Lysfs) deletion Pathogenic rs786204238 GRCh37 Chromosome 16, 89882377: 89882377
20 FANCC NM_000136.2(FANCC): c.844-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs774209201 GRCh37 Chromosome 9, 97888864: 97888864
21 FANCA NM_000135.3(FANCA): c.2557C> T (p.Arg853Ter) single nucleotide variant Pathogenic rs752160950 GRCh38 Chromosome 16, 89767185: 89767185
22 FANCA FANCA, IVS7DS, G-A, +5 single nucleotide variant Pathogenic
23 FANCA NM_000135.2: c.1627_1900del274 deletion Pathogenic
24 FANCA NM_000135.2(FANCA): c.1115_1118delTTGG (p.Val372Alafs) deletion Pathogenic rs397507552 GRCh37 Chromosome 16, 89858442: 89858445
25 FANCA FANCA, 156-BP DEL, NT1515 deletion Pathogenic
26 FANCA NM_000135.2(FANCA): c.894_1006del113 (p.Trp298Cysfs) deletion Pathogenic
27 FANCA NM_000135.2(FANCA): c.1615delG (p.Asp539Thrfs) deletion Pathogenic rs778507965 GRCh38 Chromosome 16, 89782870: 89782870
28 FANCA NM_000135.3(FANCA): c.3558dup (p.Arg1187Glufs) duplication Pathogenic rs747851434 GRCh38 Chromosome 16, 89745027: 89745027
29 FANCA NM_000135.2(FANCA): c.1007_3066del deletion Pathogenic GRCh38 Chromosome 16, 89751224: 89795381
30 FANCA NM_000135.2(FANCA): c.1606delT (p.Ser536Glnfs) deletion Pathogenic rs587776570 GRCh38 Chromosome 16, 89782879: 89782879
31 FANCA NM_000135.3(FANCA): c.513G> A (p.Trp171Ter) single nucleotide variant Pathogenic rs121907930 GRCh37 Chromosome 16, 89877124: 89877124
32 FANCA NM_000135.2(FANCA): c.3720_3724delAAACA (p.Glu1240Aspfs) deletion Pathogenic rs794726660 GRCh38 Chromosome 16, 89742841: 89742845
33 FANCF NM_022725.3(FANCF): c.230_252del23 (p.Val77Glyfs) deletion Pathogenic rs730880277 GRCh37 Chromosome 11, 22647105: 22647127
34 FANCF NM_022725.3(FANCF): c.484_485delCT (p.Leu162Aspfs) deletion Pathogenic/Likely pathogenic rs587778340 GRCh37 Chromosome 11, 22646872: 22646873
35 FANCA NM_000135.2(FANCA): c.2762A> T (p.Lys921Ile) single nucleotide variant Likely pathogenic rs879255255 GRCh38 Chromosome 16, 89764906: 89764906
36 FANCA NM_000135.2(FANCA): c.987_990delTCAC (p.His330Alafs) deletion Pathogenic rs772359099 GRCh38 Chromosome 16, 89795922: 89795925
37 FANCA NM_000135.2(FANCA): c.4015delC (p.Leu1339Serfs) deletion Likely pathogenic rs762902309 GRCh37 Chromosome 16, 89805693: 89805693
38 BRCA1 NM_007294.3(BRCA1): c.594_597delTGTG (p.Ser198Argfs) deletion Pathogenic rs797045175 GRCh38 Chromosome 17, 43095919: 43095922
39 FANCA NM_000135.2(FANCA): c.826+5_826+9del deletion Likely pathogenic rs797045570 GRCh37 Chromosome 16, 89866004: 89866008
40 FANCG NM_004629.1(FANCG): c.156dupG (p.Leu53Alafs) duplication Pathogenic rs863224506 GRCh37 Chromosome 9, 35079167: 35079167
41 FANCC NM_000136.2(FANCC): c.896+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs863224441 GRCh38 Chromosome 9, 95126527: 95126527
42 FANCC NM_000136.2(FANCC): c.489_490delGA (p.Asn164Serfs) deletion Pathogenic rs863224470 GRCh37 Chromosome 9, 97933392: 97933393
43 FANCA NM_000135.3(FANCA): c.(?_-1)_522+?del deletion Pathogenic GRCh37 Chromosome 16, 89877115: 89883024
44 FANCA NM_000135.2(FANCA): c.2606A> C (p.Gln869Pro) single nucleotide variant Likely pathogenic rs780825099 GRCh37 Chromosome 16, 89831470: 89831470
45 FANCC NM_000136.2(FANCC): c.1162G> T (p.Gly388Ter) single nucleotide variant Pathogenic/Likely pathogenic rs371897078 GRCh38 Chromosome 9, 95111630: 95111630
46 FANCC NM_000136.2(FANCC): c.997-?_1154+?del deletion Pathogenic
47 FANCC NM_000136.2(FANCC): c.1290C> A (p.Tyr430Ter) single nucleotide variant Pathogenic/Likely pathogenic rs766105286 GRCh37 Chromosome 9, 97873784: 97873784
48 FANCI NM_001113378.1(FANCI): c.3623_3624delTG (p.Cys1209Leufs) deletion Pathogenic rs770318990 GRCh38 Chromosome 15, 89307644: 89307645
49 FANCI NM_001113378.1(FANCI): c.3924+1G> A single nucleotide variant Likely pathogenic rs864622739 GRCh37 Chromosome 15, 89858621: 89858621
50 FANCA NM_000135.2(FANCA): c.4069_4082delGCTGTGGACATGTA (p.Ala1357Leufs) deletion Pathogenic rs747892390 GRCh38 Chromosome 16, 89739218: 89739231

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

7
# CNVD ID Chromosom 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
13.24 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
2
Show member pathways
12.74 BRCA1 BRIP1 FANCC FANCD2 FANCI
3
Show member pathways
12.73 BRCA1 BRCA2 BRIP1 FANCD2 FANCL RAD51
4
Show member pathways
12.63 BRCA1 BRCA2 ERCC4 FANCA FANCC FANCD2
5 12.49 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
6
Show member pathways
12.3 BRCA1 BRCA2 BRIP1 ERCC4 PALB2 RAD51
7
Show member pathways
12.28 BRCA1 BRCA2 RAD51 RAD51C
8
Show member pathways
12.16 BRCA1 BRCA2 BRIP1 PALB2 RAD51 RAD51C
9 12.11 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
10
Show member pathways
11.61 BRCA1 FANCD2 RAD51
11
Show member pathways
11.57 BRCA1 BRCA2 FANCA FANCC FANCD2 FANCE
12 11.28 BRCA1 FANCD2 FANCL
13 10.74 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 nucleoplasm GO:0005654 9.96 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
2 nuclear chromosome, telomeric region GO:0000784 9.67 BRCA2 ERCC4 RAD51 SLX4
3 condensed chromosome GO:0000793 9.5 BRCA1 FANCD2 RAD51
4 Holliday junction resolvase complex GO:0048476 9.43 RAD51C SLX4
5 lateral element GO:0000800 9.43 BRCA1 BRCA2 RAD51
6 ERCC4-ERCC1 complex GO:0070522 9.4 ERCC4 SLX4
7 Fanconi anaemia nuclear complex GO:0043240 9.23 FANCA FANCB FANCC FANCE FANCF FANCG
8 nucleus GO:0005634 10.16 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.96 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
2 DNA recombination GO:0006310 9.88 BRCA1 BRCA2 PALB2 RAD51 RAD51C SLX4
3 double-strand break repair via homologous recombination GO:0000724 9.86 BRCA1 BRCA2 ERCC4 PALB2 RAD51 RAD51C
4 DNA synthesis involved in DNA repair GO:0000731 9.85 BRCA1 BRCA2 BRIP1 PALB2 RAD51 RAD51C
5 strand displacement GO:0000732 9.8 BRCA1 BRCA2 BRIP1 PALB2 RAD51 RAD51C
6 double-strand break repair GO:0006302 9.75 BRCA1 BRCA2 BRIP1
7 response to ionizing radiation GO:0010212 9.73 BRCA1 RAD51C RFWD3
8 nucleotide-excision repair GO:0006289 9.73 BRCA2 ERCC4 FANCC SLX4
9 replication fork processing GO:0031297 9.7 FANCM RAD51 RFWD3
10 gamete generation GO:0007276 9.67 FANCC FANCD2 FANCL
11 resolution of meiotic recombination intermediates GO:0000712 9.65 ERCC4 FANCM SLX4
12 response to X-ray GO:0010165 9.64 BRCA2 RAD51
13 male meiosis I GO:0007141 9.63 BRCA2 RAD51C
14 neuronal stem cell population maintenance GO:0097150 9.63 FANCC FANCD2
15 telomere maintenance via recombination GO:0000722 9.63 BRCA2 RAD51 RAD51C
16 brain morphogenesis GO:0048854 9.62 FANCC FANCD2
17 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.62 BRCA1 BRCA2
18 regulation of regulatory T cell differentiation GO:0045589 9.61 FANCA FANCD2
19 inner cell mass cell proliferation GO:0001833 9.61 BRCA2 PALB2
20 mitotic recombination GO:0006312 9.6 RAD51 RAD51C
21 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.59 ERCC4 SLX4
22 protein K6-linked ubiquitination GO:0085020 9.58 BRCA1 UBE2T
23 strand invasion GO:0042148 9.57 RAD51 RAD51C
24 chordate embryonic development GO:0043009 9.55 BRCA1 BRCA2
25 regulation of CD40 signaling pathway GO:2000348 9.54 FANCA FANCD2
26 mitotic recombination-dependent replication fork processing GO:1990426 9.51 BRCA2 RAD51
27 interstrand cross-link repair GO:0036297 9.5 ERCC4 FANCA FANCB FANCC FANCD2 FANCE
28 DNA repair GO:0006281 10.16 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin-protein transferase activity GO:0004842 9.78 BRCA1 FANCL RFWD3 UBE2T
2 protein binding GO:0005515 9.6 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
3 single-stranded DNA binding GO:0003697 9.56 BRCA2 ERCC4 RAD51 RAD51C
4 damaged DNA binding GO:0003684 9.54 BRCA1 ERCC4 FANCG
5 four-way junction DNA binding GO:0000400 9.46 RAD51 RAD51C
6 crossover junction endodeoxyribonuclease activity GO:0008821 9.4 RAD51C SLX4
7 endodeoxyribonuclease activity GO:0004520 9.33 ERCC4 RAD51 SLX4
8 recombinase activity GO:0000150 9.32 RAD51 RAD51C
9 DNA polymerase binding GO:0070182 9.13 FANCD2 FANCI RAD51
10 DNA binding GO:0003677 10.09 BRCA1 BRCA2 BRIP1 ERCC4 FANCI FANCM

Sources for Fanconi Anemia, Complementation Group a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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