FANCA
MCID: FNC027
MIFTS: 81

Fanconi Anemia, Complementation Group a (FANCA)

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

Aliases & Classifications for Fanconi Anemia, Complementation Group a

MalaCards integrated aliases for Fanconi Anemia, Complementation Group a:

Name: Fanconi Anemia, Complementation Group a 58 76 30 13 13 6 39 41 74
Fanconi Anemia 58 12 77 25 54 26 60 76 38 30 6 45 15 41 74 64
Fanconi Pancytopenia 12 77 25 54 26 60
Fanconi Anemia Complementation Group a 12 15 17
Fanconi's Anemia 39 12 54
Fanca 58 12 76
Fa 58 26 76
Fanconi Panmyelopathy 12 26
Estren-Dameshek Variant of Fanconi Pancytopenia 76
Estren-Dameshek Variant of Fanconi Anemia 76
Fanconi Anemia Estren-Dameshek Variant 76
Fanconi Hypoplastic Anemia 26
Fanconi Anemia; Fa 58
Fanconis Anemia 56

Characteristics:

Orphanet epidemiological data:

60
fanconi anemia
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
fanconi anemia, complementation group a:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111095 DOID:13636
OMIM 58 227650
KEGG 38 H00238
MeSH 45 D005199
NCIt 51 C62505
SNOMED-CT 69 30575002
ICD10 34 D61.09
MESH via Orphanet 46 D005199
ICD10 via Orphanet 35 D61.0
UMLS via Orphanet 75 C0015625
Orphanet 60 ORPHA84

Summaries for Fanconi Anemia, Complementation Group a

OMIM : 58 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 u 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 Fanconi anemia pathway and DNA Double-Strand Break Repair. The drugs Fludarabine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include Blood, bone and bone marrow, and related phenotypes are short stature and thrombocytopenia

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.

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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. 

UniProtKB/Swiss-Prot : 76 Fanconi anemia, complementation group A: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

PubMed Health : 64 About fanconi anemia: Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare, inherited blood disorder that leads to bone marrow failure. The disorder also is called Fanconi’s anemia.FA prevents your bone marrow from making enough new blood cells for your body to work normally. FA also can cause your bone marrow to make many faulty blood cells. This can lead to serious health problems, such as leukemia (a type of blood cancer).Although FA is a blood disorder, it also can affect many of your body's organs, tissues, and systems. Children who inherit FA are at higher risk of being born with birth defects. FA also increases the risk of some cancers and other serious health problems.FA is different from Fanconi syndrome. Fanconi syndrome affects the kidneys. It's a rare and serious condition that mostly affects children.Children who have Fanconi syndrome pass large amounts of key nutrients and chemicals through their urine. These children may have serious health and developmental problems.

Wikipedia : 77 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 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
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 729)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group u 34.7 BRCA1 FANCD2 RAD51 RAD51C UBE2T
2 fanconi anemia, complementation group r 34.6 BRCA1 ERCC4 FANCD2 FANCE FANCI FANCL
3 fanconi anemia, complementation group o 32.9 FANCD2 FANCI FANCM RAD51C
4 fanconi anemia, complementation group l 32.9 FANCD2 FANCL UBE2T
5 fanconi anemia, complementation group n 32.9 BRCA2 BRIP1 FANCI FANCM PALB2
6 fanconi anemia, complementation group i 32.8 FANCD2 FANCI
7 fanconi anemia, complementation group f 32.7 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
8 fanconi anemia, complementation group e 32.7 BRCA1 FANCA FANCC FANCD2 FANCE FANCF
9 fanconi anemia, complementation group q 32.7 BRCA1 BRCA2 ERCC4 FANCA FANCD2 FANCE
10 fanconi anemia, complementation group b 32.7 FANCA FANCB FANCC FANCD2 FANCE FANCF
11 fanconi anemia, complementation group p 32.6 FANCA FANCM SLX4
12 maternal uniparental disomy of chromosome 16 32.6 FANCA SLX4
13 fanconi anemia, complementation group d2 32.6 BRCA2 FANCA FANCD2 RAD51
14 tracheoesophageal fistula 32.6 BRCA2 BRIP1 FANCA FANCC PALB2
15 fanconi anemia, complementation group v 32.6 BRCA1 FANCA FANCD2 RAD51 UBE2T
16 fanconi anemia, complementation group d1 32.6 BRCA2 FANCA FANCC FANCD2 FANCE FANCF
17 squamous cell carcinoma, head and neck 32.5 FANCA FANCC FANCE FANCF FANCL
18 fanconi anemia, complementation group j 32.5 BRCA1 BRIP1 FANCA FANCC FANCD2 FANCI
19 fanconi anemia, complementation group t 32.5 BRCA1 ERCC4 FANCA FANCD2 FANCE FANCI
20 congenital hypoplastic anemia 32.4 BRCA2 BRIP1 FANCA FANCC FANCD2 FANCE
21 deficiency anemia 31.0 FANCA FANCC FANCD2 FANCG
22 tracheoesophageal fistula with or without esophageal atresia 30.8 BRCA2 FANCC PALB2
23 sporadic breast cancer 30.6 BRCA1 BRCA2 FANCD2 RAD51
24 pancreas adenocarcinoma 30.2 BRCA1 BRCA2 PALB2
25 fanconi anemia, complementation group c 12.7
26 fanconi anemia, complementation group s 12.6
27 fanconi anemia, complementation group w 12.5
28 friedreich ataxia 1 12.0
29 autoimmune lymphoproliferative syndrome 11.9
30 fetal alcohol syndrome 11.9
31 vacterl association with hydrocephalus 11.7
32 fanconi syndrome 11.6
33 warsaw breakage syndrome 11.6
34 aplastic anemia 11.5
35 fetal alcohol spectrum disorder 11.5
36 nijmegen breakage syndrome 11.4
37 thrombocytopenia-absent radius syndrome 11.4
38 fanconi anemia, complementation group g 11.3
39 neuroblastoma 11.1
40 polydactyly, preaxial ii 11.1
41 amegakaryocytic thrombocytopenia, congenital 11.1
42 diamond-blackfan anemia 11.1
43 pituitary stalk interruption syndrome 11.1
44 fundus albipunctatus 11.1
45 dianzani autoimmune lymphoproliferative disease 11.1
46 seckel syndrome 11.0
47 otodental dysplasia 10.9
48 caspase 8 deficiency 10.9
49 isolated tracheoesophageal fistula 10.6 BRCA2 FANCC PALB2
50 hereditary site-specific ovarian cancer syndrome 10.6 BRCA1 BRCA2

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:

60 33 (show top 50) (show all 130)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
2 thrombocytopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001873
3 hypopigmented skin patches 60 33 hallmark (90%) Very frequent (99-80%) HP:0001053
4 abnormality of chromosome stability 60 33 hallmark (90%) Very frequent (99-80%) HP:0003220
5 irregular hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007400
6 aplasia/hypoplasia of the radius 60 33 hallmark (90%) Very frequent (99-80%) HP:0006501
7 leukopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001882
8 pyridoxine-responsive sideroblastic anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005522
9 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
10 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
11 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
12 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
13 almond-shaped palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0007874
14 short palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0012745
15 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
16 frontal bossing 60 33 occasional (7.5%) Occasional (29-5%) HP:0002007
17 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
18 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
19 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
20 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
21 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
22 hyperreflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001347
23 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
24 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
25 umbilical hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001537
26 pes planus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001763
27 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
28 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
29 cranial nerve paralysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0006824
30 hypertrophic cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001639
31 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
32 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
33 myelodysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002863
34 weight loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0001824
35 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
36 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
37 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
38 dolichocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000268
39 reduced bone mineral density 60 33 occasional (7.5%) Occasional (29-5%) HP:0004349
40 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
41 arteriovenous malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0100026
42 intrauterine growth retardation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001511
43 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
44 external ear malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0008572
45 renal hypoplasia/aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008678
46 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
47 hypogonadism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000135
48 aganglionic megacolon 60 33 occasional (7.5%) Occasional (29-5%) HP:0002251
49 hip dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002827
50 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
microcephaly

Head And Neck Eyes:
strabismus
microphthalmia

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

Neurologic Central Nervous System:
mental retardation

Skeletal 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

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

Endocrine Features:
hypergonadotropic hypogonadism

Head And Neck Ears:
deafness
ear anomaly

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

Growth Weight:
low birth weight

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

Clinical features from OMIM:

227650

UMLS symptoms related to Fanconi Anemia, Complementation Group a:


anemic pallor

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

27 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.97 BRCA1 RAD51
2 Decreased homologous recombination repair frequency GR00151-A-2 10.97 BRCA1 RAD51
3 Decreased homologous recombination repair frequency GR00236-A-1 10.97 BRCA1 BRCA2 FANCA FANCI PALB2 RAD51
4 Decreased homologous recombination repair frequency GR00236-A-2 10.97 BRCA1 BRCA2 FANCA FANCI PALB2 RAD51
5 Decreased homologous recombination repair frequency GR00236-A-3 10.97 BRCA1 BRCA2 FANCA PALB2 RAD51 RFWD3
6 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 10.31 FANCC FANCF FANCL RFWD3
7 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 10.31 FANCC FANCF FANCL RFWD3
8 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.11 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCC
9 Decreased ionizing radiation sensitivity GR00232-A-1 10 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCD2
10 Increased gamma-H2AX phosphorylation GR00053-A 9.91 BRIP1 ERCC4 FANCA FANCC FANCE FANCI
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.85 BRCA1 BRCA2 ERCC4 FANCA FANCD2 FANCM
12 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.85 BRCA1 BRCA2 ERCC4 FANCA FANCD2 FANCM
13 Decreased viability with cisplatin GR00101-A-4 9.77 BRCA1 BRCA2 BRIP1 RAD51 RFWD3
14 Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation GR00242-A-4 9.73 FANCC FANCF FANCL RFWD3
15 Increased cell death HMECs cells GR00103-A-0 9.72 BRCA1 FANCL RAD51 RAD51C UBE2T
16 Synthetic lethal with cisplatin GR00101-A-1 9.26 BRCA1 BRCA2 BRIP1 RAD51

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

47
# 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 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCC
3 growth/size/body region MP:0005378 10.03 BRCA1 BRCA2 ERCC4 FANCA FANCB FANCD2
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: 64

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 121)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 75607-67-9, 21679-14-1 30751
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 6055-19-2, 50-18-0 2907
3
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1 216503-57-0
4
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable 55-98-1 2478
5
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable,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
Mycophenolic acid Approved Phase 2, Phase 3,Phase 1,Not Applicable 24280-93-1 446541
8
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1,Not Applicable 22916-47-8 4189
9
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 46835353 6436030 5284616
10
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177 70789204
11 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
12 Antiviral Agents Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1
13 Antimetabolites Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
14 Anti-Infective Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
15 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
16 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
17 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
18 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
19 Antirheumatic Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
20 Anti-Bacterial Agents Phase 2, Phase 3,Phase 1,Not Applicable
21 Antifungal Agents Phase 2, Phase 3,Phase 1,Not Applicable
22 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 1,Not Applicable
23 Antitubercular Agents Phase 2, Phase 3,Phase 1,Not Applicable
24
Lenograstim Approved, Investigational Phase 2,Phase 1,Not Applicable 135968-09-1
25
Prednisolone phosphate Approved, Vet_approved Phase 2,Phase 1,Not Applicable 302-25-0
26
Prednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 50-24-8 5755
27
Melphalan Approved Phase 2,Phase 1,Not Applicable 148-82-3 460612 4053
28
Methylprednisolone hemisuccinate Approved Phase 2,Phase 1,Not Applicable 2921-57-5
29
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 83-43-2 6741
30
Sargramostim Approved, Investigational Phase 2,Phase 1 123774-72-1, 83869-56-1
31
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
32
Tacrolimus Approved, Investigational Phase 2,Phase 1 104987-11-3 445643 439492 6473866
33
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
34
Iron Approved, Experimental Phase 2 7439-89-6, 15438-31-0 23925 27284
35
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
36
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
37
Deferiprone Approved Phase 2 30652-11-0 2972
38
Metformin Approved Phase 2 657-24-9 14219 4091
39
rituximab Approved Phase 2 174722-31-7 10201696
40
Talazoparib Approved, Investigational Phase 2 1207456-01-6
41
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750
42
Cisplatin Approved Phase 1, Phase 2 15663-27-1 441203 84093 2767
43
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
44
Phenytoin Approved, Vet_approved Phase 1, Phase 2 57-41-0 1775
45
Fosphenytoin Approved, Investigational Phase 1, Phase 2 93390-81-9 56339
46
Prednisolone hemisuccinate Experimental Phase 2,Phase 1,Not Applicable 2920-86-7
47
Quercetin Experimental, Investigational Phase 2,Phase 1 117-39-5 5280343
48
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
49 Anti-Retroviral Agents Phase 2,Phase 1
50 Plerixafor octahydrochloride Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 92)
# Name Status NCT ID Phase Drugs
1 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
2 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)
3 TBI Dose De-escalation for Fanconi Anemia Recruiting NCT00352976 Phase 2, Phase 3 Cyclophosphamide;Fludarabine;Mycophenolate Mofetil;Sirolimus
4 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 Unknown status NCT02931071 Phase 2 filgrastim;plerixafor
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 Busulfan;Fludarabine;Cyclophosphamide;ATG
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 Remission Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
15 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
16 CD34+Selection for Partially Matched Family or Matched Unrelated Adult Donor Transplant Completed NCT01049854 Phase 2 Full Intensity with TBI;Full Intensity;Reduced Intensity;Reduced Intensity (Fanconi)
17 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
18 Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Completed NCT00872729 Phase 1, Phase 2 Cystagon®;RP103
19 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
20 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia Recruiting NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
21 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
22 Pilot Study of Metformin for Patients With Fanconi Anemia Recruiting NCT03398824 Phase 2 metformin HCl
23 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
24 Eltrombopag for People With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag
25 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
26 T Cell Receptor α/β TCD HCT in Patients With Fanconi Anemia 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
27 HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy Recruiting NCT02143830 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;rabbit ATG;G-CSF
28 Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A Recruiting NCT03157804 Phase 1, Phase 2 Plerixafor
29 A Study of the Effect of Blood Stem Cell Transplant After Chemotherapy Alone in Patients With Fanconi Anemia Recruiting NCT03600909 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;Anti-Thymocyte Globulin (Rabbit);G-CSF
30 Phase II Talazoparib in BRCA1 +BRCA2 Wild-Type &Triple-Neg /HER2-Negative Breast Cancer /SolidTumors Recruiting NCT02401347 Phase 2 Talazoparib Tosylate
31 A Study of LY2606368 (Prexasertib) in Patients With Solid Tumors With Replicative Stress or Homologous Repair Deficiency Recruiting NCT02873975 Phase 2 LY2606368
32 A Phase 1/2 Trial of SRA737 in Combination With Gemcitabine Plus Cisplatin or Gemcitabine Alone in Subjects With Advanced Cancer Recruiting NCT02797977 Phase 1, Phase 2 SRA737, gemcitabine, cisplatin;SRA737, gemcitabine
33 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 BRCA1/2 (Not Breast or Ovarian Cancer) Recruiting NCT02286687 Phase 2 Talazoparib Tosylate
34 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
35 Safety Study of Gene Modified Donor T-cells Following TCR Alpha Beta Depleted Stem Cell Transplant Active, not recruiting NCT02065869 Phase 1, Phase 2 rimiducid
36 A Phase 1/2 Trial of SRA737 in Subjects With Advanced Cancer Active, not recruiting NCT02797964 Phase 1, Phase 2 SRA737
37 Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study Enrolling by invitation NCT03733249 Phase 1, Phase 2 Rimiducid
38 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
39 Stem Cell Transplantation for Fanconi Anemia Terminated NCT00167206 Phase 1, Phase 2 Cyclophosphamide, Fludarabine
40 Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia Terminated NCT00590460 Phase 1, Phase 2 Fludarabine
41 Stem Cell Transplant for Hematologic Diseases Terminated NCT00058825 Phase 1, Phase 2 Fludarabine;FK506 (Tacrolimus) or Cyclosporine
42 Double Cord Blood Transplant for Patients With Malignant and Non-malignant Disorders Terminated NCT00801931 Phase 1, Phase 2 Alemtuzumab;Melphalan;Busulfan;Phenytoin;Fludarabine;Cyclophosphamide;Horse Antithymocyte Globulin;Rabbit Antithymocyte Globulin;Thiotepa
43 Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia Unknown status NCT00006127 Phase 1 amifostine
44 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
45 Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia Completed NCT00243399 Phase 1 Oxandrolone
46 Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi's Anemia Completed NCT00317876 Phase 1 cyclophosphamide;cyclosporine;methotrexate
47 Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia Completed NCT00272857 Phase 1
48 Gene Therapy for the Treatment of Fanconi's Anemia Type C Completed NCT00001399 Phase 1 Transduced CD34+ Cells
49 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
50 A Clinical Trial to Evaluate the Safety of RP-L102 in Pediatric Subjects With Fanconi Anemia Subtype A Recruiting NCT03814408 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 30 FANCA
2 Fanconi Anemia 30

Anatomical Context for Fanconi Anemia, Complementation Group a

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

42
Bone, Bone Marrow, Kidney, Skin, Myeloid, Breast, Eye
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 1509)
# Title Authors Year
1
Expression and prognostic significance of Fanconi anemia group D2 protein and breast cancer type 1 susceptibility protein in familial and sporadic breast cancer. ( 30881493 )
2019
2
Pyoderma gangrenosum: a presenting sign of myelodysplastic syndrome in undiagnosed Fanconi anemia. ( 30710899 )
2019
3
Treatment modalities and outcomes of Fanconi anemia patients with head and neck squamous cell carcinoma: A series of 9 cases and review of the literature. ( 30633423 )
2019
4
Trilineage Hematopoiesis Induced by Low-dose Eltrombopag in a Patient With Fanconi Anemia can be Used as a Bridge to Hematopoietic Stem Cell Transplant. ( 29668547 )
2019
5
Combination therapy with atorvastatin and celecoxib delays tumor formation in a Fanconi anemia mouse model. ( 30255556 )
2019
6
Associations of complementation group, ALDH2 genotype, and clonal abnormalities with hematological outcome in Japanese patients with Fanconi anemia. ( 30368588 )
2019
7
A mummy emerges from the grave: Scurvy confounding the clinical presentation of a child with Fanconi anemia. ( 30637794 )
2019
8
The Fanconi Anemia Pathway and Fertility. ( 30683429 )
2019
9
Effective CRISPR/Cas9-mediated correction of a Fanconi anemia defect by error-prone end joining or templated repair. ( 30683899 )
2019
10
Fanconi anemia protein FANCI functions in ribosome biogenesis. ( 30692263 )
2019
11
Deficiency of the Fanconi anemia E2 ubiqitin conjugase UBE2T only partially abrogates Alu-mediated recombination in a new model of homology dependent recombination. ( 30715513 )
2019
12
New Insights and Perspectives in Fanconi Anemia Research. ( 30744929 )
2019
13
Prolyl isomerization of FAAP20 catalyzed by PIN1 regulates the Fanconi anemia pathway. ( 30789902 )
2019
14
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients. ( 30792206 )
2019
15
Malignant Transformation of Fanconi Anemia Complementation Group D2-deficient (Fancd2-/-) Hematopoietic Progenitor Cells by a Single HPV16 Oncogene. ( 30804107 )
2019
16
Screening of the FANCA gene mutational hot-spots in the Pakistani fanconi anemia patients revealed 19 sequence variations. ( 30809872 )
2019
17
Holding All the Cards-How Fanconi Anemia Proteins Deal with Replication Stress and Preserve Genomic Stability. ( 30813363 )
2019
18
High-risk human papillomavirus oncogenes disrupt the Fanconi anemia DNA repair pathway by impairing localization and de-ubiquitination of FancD2. ( 30818369 )
2019
19
Regulation of R-loops and genome instability in Fanconi anemia. ( 30821334 )
2019
20
Importance of finding the bona fide target of the Fanconi anemia pathway. ( 30873250 )
2019
21
The Fanconi Anemia Pathway in Cancer. ( 30882047 )
2019
22
A Japanese patient with RAD51-associated Fanconi anemia. ( 30907510 )
2019
23
Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML. ( 29416752 )
2018
24
In Reference to Fanconi Anemia and Laron Syndrome. ( 29891046 )
2018
25
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. ( 29904161 )
2018
26
About a Suggestive Association Between Fanconi Anemia and Laron Syndrome. ( 29891047 )
2018
27
Correction: Population pharmacokinetics of fludarabine in patients with aplastic anemia and Fanconi anemia undergoing allogeneic hematopoietic stem cell transplantation. ( 30135463 )
2018
28
Comparable Outcomes after HLA-Matched Sibling and Alternative Donor Hematopoietic Cell Transplantation for Children with Fanconi Anemia and Severe Aplastic Anemia. ( 29203412 )
2018
29
Fanconi Anemia and Ataxia Telangiectasia in Siblings who Inherited Unique Combinations of Novel FANCA and ATM Null Mutations. ( 30339652 )
2018
30
Allogeneic Stem Cell Transplantation after Fanconi Anemia Conditioning in Children with Ataxia-Telangiectasia Results in Stable T Cell Engraftment and Lack of Infections despite Mixed Chimerism. ( 30454873 )
2018
31
A Case of Superficial Esophageal Cancer in a Fanconi Anemia Patient that was Treated Successfully by Endoscopic Submucosal Resection. ( 30333403 )
2018
32
Endoscopic findings and esophageal cancer incidence among Fanconi Anemia patients participating in an endoscopic surveillance program. ( 30249500 )
2018
33
Sequential reduced-intensity chemotherapy for allogeneic hematopoietic stem cell transplantation in acute myeloid leukemia with rare cytogenetic abnormalities transformed from Fanconi anemia. ( 30255979 )
2018
34
Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia. ( 30047418 )
2018
35
Rare, Pathogenic Germline Variants in Fanconi Anemia Genes Increase Risk for Squamous Lung Cancer. ( 30425093 )
2018
36
Lymphopenia With Clinical and Laboratory Features of Combined Immune Deficiency in an 11-Year-Old Female With FANCD2 Variants and Fanconi Anemia. ( 30713837 )
2018
37
An uncommon t(9;11)(p24;q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia. ( 30008805 )
2018
38
Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia. ( 29891941 )
2018
39
Treatment With Azacitidine in the Context of Palliative Care for a Patient With Acute Myeloid Leukemia Complicating Fanconi Anemia With Biallelic FANCD1/BRCA 2 Mutations. ( 29389832 )
2018
40
Fanconi anemia in twins with neutropenia: A case report. ( 30250602 )
2018
41
Salivary lactate dehydrogenase (LDH) as a tool for early diagnosis of oral cancer in individuals with Fanconi anemia. ( 30122487 )
2018
42
Oral cancer in Fanconi anemia: Review of 121 cases. ( 29650274 )
2018
43
Limited detection of human polyomaviruses in Fanconi anemia related squamous cell carcinoma. ( 30589865 )
2018
44
Fanconi anemia and homologous recombination gene variants are associated with functional DNA repair defects in vitro and poor outcome in patients with advanced head and neck squamous cell carcinoma. ( 29719599 )
2018
45
Icariin improves Fanconi anemia hematopoietic stem cell function through SIRT6-mediated NF-kappa B inhibition. ( 29355456 )
2018
46
Reduced Cell Division Control Protein 42 Activity Compromises Hematopoiesis-Supportive Function of Fanconi Anemia Mesenchymal Stromal Cells. ( 29377497 )
2018
47
Fanconi anemia: from DNA repair to metabolism. ( 29396564 )
2018
48
Recent advances in understanding hematopoiesis in Fanconi Anemia. ( 29399332 )
2018
49
Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia. ( 29423082 )
2018
50
BRCA1 homozygous unclassified variant in a patient with non-Fanconi anemia: A case report. ( 29435075 )
2018

Variations for Fanconi Anemia, Complementation Group a

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

76 (show all 29)
# Symbol AA change Variation ID SNP ID
1 FANCA p.Ala181Val VAR_009639 rs17232246
2 FANCA p.Leu244Phe VAR_009640
3 FANCA p.Asp252Gly VAR_009641 rs17225943
4 FANCA p.Arg435Cys VAR_009642 rs148473140
5 FANCA p.His492Arg VAR_009643
6 FANCA p.Leu817Pro VAR_009647
7 FANCA p.Leu845Pro VAR_009648 rs117370426
8 FANCA p.Arg1055Leu VAR_009649 rs142994303
9 FANCA p.His1110Pro VAR_009650
10 FANCA p.Arg1117Gly VAR_009651 rs149277003
11 FANCA p.Gln1128Glu VAR_009652 rs143981734
12 FANCA p.Thr1131Ala VAR_009653 rs574034197
13 FANCA p.Trp1302Arg VAR_009656 rs878853665
14 FANCA p.His1417Asp VAR_009658 rs17227403
15 FANCA p.Asp598Asn VAR_017497
16 FANCA p.Ser858Arg VAR_017498 rs17233141
17 FANCA p.Arg1055Trp VAR_017499 rs753063086
18 FANCA p.Leu1082Pro VAR_017500
19 FANCA p.Ser1088Phe VAR_017501 rs17233497
20 FANCA p.Phe1262Leu VAR_017502
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 4928)
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCB NM_001018113.2(FANCB): c.1105-6_1105-3dupTATT duplication Benign/Likely benign rs398123537 GRCh37 Chromosome X, 14876079: 14876082
2 FANCB NM_001018113.2(FANCB): c.1105-6_1105-3dupTATT duplication Benign/Likely benign rs398123537 GRCh38 Chromosome X, 14857957: 14857960
3 FANCC NM_000136.2(FANCC): c.1643G> A (p.Arg548Gln) single nucleotide variant Uncertain significance rs730881729 GRCh38 Chromosome 9, 95101741: 95101741
4 FANCC NM_000136.2(FANCC): c.1643G> A (p.Arg548Gln) single nucleotide variant Uncertain significance rs730881729 GRCh37 Chromosome 9, 97864023: 97864023
5 FANCC NM_000136.2(FANCC): c.1534-5T> G single nucleotide variant Uncertain significance rs730881727 GRCh38 Chromosome 9, 95101855: 95101855
6 FANCC NM_000136.2(FANCC): c.1534-5T> G single nucleotide variant Uncertain significance rs730881727 GRCh37 Chromosome 9, 97864137: 97864137
7 FANCC NM_000136.2(FANCC): c.1509G> A (p.Thr503=) single nucleotide variant Benign/Likely benign rs144278080 GRCh38 Chromosome 9, 95107090: 95107090
8 FANCC NM_000136.2(FANCC): c.1509G> A (p.Thr503=) single nucleotide variant Benign/Likely benign rs144278080 GRCh37 Chromosome 9, 97869372: 97869372
9 FANCC NM_000136.2(FANCC): c.1493C> T (p.Ala498Val) single nucleotide variant Uncertain significance rs730881725 GRCh38 Chromosome 9, 95107106: 95107106
10 FANCC NM_000136.2(FANCC): c.1493C> T (p.Ala498Val) single nucleotide variant Uncertain significance rs730881725 GRCh37 Chromosome 9, 97869388: 97869388
11 FANCC NM_000136.2(FANCC): c.1302dupT (p.Gly435Trpfs) duplication Pathogenic rs730881709 GRCh38 Chromosome 9, 95111490: 95111490
12 FANCC NM_000136.2(FANCC): c.1302dupT (p.Gly435Trpfs) duplication Pathogenic rs730881709 GRCh37 Chromosome 9, 97873772: 97873772
13 FANCC NM_000136.2(FANCC): c.1249G> A (p.Glu417Lys) single nucleotide variant Uncertain significance rs140687953 GRCh38 Chromosome 9, 95111543: 95111543
14 FANCC NM_000136.2(FANCC): c.1249G> A (p.Glu417Lys) single nucleotide variant Uncertain significance rs140687953 GRCh37 Chromosome 9, 97873825: 97873825
15 FANCC NM_000136.2(FANCC): c.1201G> A (p.Gly401Arg) single nucleotide variant Uncertain significance rs730881722 GRCh38 Chromosome 9, 95111591: 95111591
16 FANCC NM_000136.2(FANCC): c.1201G> A (p.Gly401Arg) single nucleotide variant Uncertain significance rs730881722 GRCh37 Chromosome 9, 97873873: 97873873
17 FANCC NM_000136.2(FANCC): c.817G> A (p.Glu273Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs143181565 GRCh38 Chromosome 9, 95135372: 95135372
18 FANCC NM_000136.2(FANCC): c.817G> A (p.Glu273Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs143181565 GRCh37 Chromosome 9, 97897654: 97897654
19 FANCC NM_000136.2(FANCC): c.802T> A (p.Cys268Ser) single nucleotide variant Uncertain significance rs730881718 GRCh38 Chromosome 9, 95135387: 95135387
20 FANCC NM_000136.2(FANCC): c.802T> A (p.Cys268Ser) single nucleotide variant Uncertain significance rs730881718 GRCh37 Chromosome 9, 97897669: 97897669
21 FANCC NM_000136.2(FANCC): c.800A> G (p.Asn267Ser) single nucleotide variant Uncertain significance rs200854639 GRCh38 Chromosome 9, 95135389: 95135389
22 FANCC NM_000136.2(FANCC): c.800A> G (p.Asn267Ser) single nucleotide variant Uncertain significance rs200854639 GRCh37 Chromosome 9, 97897671: 97897671
23 FANCC NM_000136.2(FANCC): c.792T> G (p.Ser264Arg) single nucleotide variant Uncertain significance rs730881717 GRCh38 Chromosome 9, 95135397: 95135397
24 FANCC NM_000136.2(FANCC): c.792T> G (p.Ser264Arg) single nucleotide variant Uncertain significance rs730881717 GRCh37 Chromosome 9, 97897679: 97897679
25 FANCC NM_000136.2(FANCC): c.767A> G (p.His256Arg) single nucleotide variant Uncertain significance rs730881716 GRCh38 Chromosome 9, 95135422: 95135422
26 FANCC NM_000136.2(FANCC): c.767A> G (p.His256Arg) single nucleotide variant Uncertain significance rs730881716 GRCh37 Chromosome 9, 97897704: 97897704
27 FANCC NM_000136.2(FANCC): c.692_694delAGA (p.Lys231del) deletion Uncertain significance rs3831244 GRCh38 Chromosome 9, 95135495: 95135497
28 FANCC NM_000136.2(FANCC): c.692_694delAGA (p.Lys231del) deletion Uncertain significance rs3831244 GRCh37 Chromosome 9, 97897777: 97897779
29 FANCC NM_000136.2(FANCC): c.554G> A (p.Arg185Gln) single nucleotide variant Uncertain significance rs370346767 GRCh38 Chromosome 9, 95150055: 95150055
30 FANCC NM_000136.2(FANCC): c.554G> A (p.Arg185Gln) single nucleotide variant Uncertain significance rs370346767 GRCh37 Chromosome 9, 97912337: 97912337
31 FANCC NM_000136.2(FANCC): c.531C> T (p.Pro177=) single nucleotide variant Benign/Likely benign rs150070473 GRCh38 Chromosome 9, 95150078: 95150078
32 FANCC NM_000136.2(FANCC): c.531C> T (p.Pro177=) single nucleotide variant Benign/Likely benign rs150070473 GRCh37 Chromosome 9, 97912360: 97912360
33 FANCC NM_000136.2(FANCC): c.522-4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs371422485 GRCh38 Chromosome 9, 95150091: 95150091
34 FANCC NM_000136.2(FANCC): c.522-4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs371422485 GRCh37 Chromosome 9, 97912373: 97912373
35 FANCC NM_000136.2(FANCC): c.487_490delGAGA (p.Glu163Ilefs) deletion Pathogenic/Likely pathogenic rs730881708 GRCh38 Chromosome 9, 95171110: 95171113
36 FANCC NM_000136.2(FANCC): c.487_490delGAGA (p.Glu163Ilefs) deletion Pathogenic/Likely pathogenic rs730881708 GRCh37 Chromosome 9, 97933392: 97933395
37 FANCC NM_000136.2(FANCC): c.440C> T (p.Pro147Leu) single nucleotide variant Uncertain significance rs730881711 GRCh38 Chromosome 9, 95172053: 95172053
38 FANCC NM_000136.2(FANCC): c.440C> T (p.Pro147Leu) single nucleotide variant Uncertain significance rs730881711 GRCh37 Chromosome 9, 97934335: 97934335
39 FANCC NM_000136.2(FANCC): c.319C> T (p.Gln107Ter) single nucleotide variant Pathogenic rs730881731 GRCh38 Chromosome 9, 95240675: 95240675
40 FANCC NM_000136.2(FANCC): c.319C> T (p.Gln107Ter) single nucleotide variant Pathogenic rs730881731 GRCh37 Chromosome 9, 98002957: 98002957
41 FANCC NM_000136.2(FANCC): c.191T> G (p.Phe64Cys) single nucleotide variant Uncertain significance rs375921240 GRCh38 Chromosome 9, 95247491: 95247491
42 FANCC NM_000136.2(FANCC): c.191T> G (p.Phe64Cys) single nucleotide variant Uncertain significance rs375921240 GRCh37 Chromosome 9, 98009773: 98009773
43 BRCA2 NM_000059.3(BRCA2): c.1909+9_1909+10delGT deletion Conflicting interpretations of pathogenicity rs527732001 GRCh38 Chromosome 13, 32333396: 32333397
44 BRCA2 NM_000059.3(BRCA2): c.1909+9_1909+10delGT deletion Conflicting interpretations of pathogenicity rs527732001 GRCh37 Chromosome 13, 32907533: 32907534
45 BRCA2 NM_000059.3(BRCA2): c.6921A> G (p.Ser2307=) single nucleotide variant Likely benign rs181183366 GRCh38 Chromosome 13, 32344637: 32344637
46 BRCA2 NM_000059.3(BRCA2): c.6921A> G (p.Ser2307=) single nucleotide variant Likely benign rs181183366 GRCh37 Chromosome 13, 32918774: 32918774
47 PALB2 NM_024675.3(PALB2): c.1492G> T (p.Asp498Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs75023630 GRCh38 Chromosome 16, 23635054: 23635054
48 PALB2 NM_024675.3(PALB2): c.1492G> T (p.Asp498Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs75023630 GRCh37 Chromosome 16, 23646375: 23646375
49 BRIP1 NM_032043.2(BRIP1): c.1935+11_1935+13delGTT deletion Conflicting interpretations of pathogenicity rs730881641 GRCh38 Chromosome 17, 61780248: 61780250
50 BRIP1 NM_032043.2(BRIP1): c.1935+11_1935+13delGTT deletion Conflicting interpretations of pathogenicity rs730881641 GRCh37 Chromosome 17, 59857609: 59857611

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:

38
# 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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.24 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
2
Show member pathways
12.75 BRCA1 BRIP1 FANCC FANCD2 FANCI
3
Show member pathways
12.75 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
12.29 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
11.63 BRCA1 FANCD2 RAD51
11
Show member pathways
11.57 BRCA1 BRCA2 FANCA FANCC FANCD2 FANCE
12 11.54 BRCA1 BRCA2 BRIP1 FANCD2 FANCL RAD51
13 11.3 BRCA1 FANCD2 FANCL
14 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 25)
# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.98 BRCA1 FANCF FANCL RFWD3 UBE2T
2 DNA repair GO:0006281 9.96 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
3 double-strand break repair via homologous recombination GO:0000724 9.86 BRCA1 BRCA2 ERCC4 PALB2 RAD51 RAD51C
4 DNA recombination GO:0006310 9.8 BRCA1 BRCA2 PALB2 RAD51 RAD51C SLX4
5 nucleotide-excision repair GO:0006289 9.77 BRCA2 BRIP1 ERCC4 FANCC SLX4
6 double-strand break repair GO:0006302 9.72 BRCA1 BRCA2 BRIP1
7 replication fork processing GO:0031297 9.67 FANCM RAD51 RFWD3
8 gamete generation GO:0007276 9.63 FANCC FANCD2 FANCL
9 male meiosis I GO:0007141 9.62 BRCA2 RAD51C
10 regulation of DNA-binding transcription factor activity GO:0051090 9.62 FANCA FANCD2
11 female gonad development GO:0008585 9.61 BRCA2 FANCA
12 neuronal stem cell population maintenance GO:0097150 9.61 FANCC FANCD2
13 resolution of meiotic recombination intermediates GO:0000712 9.61 ERCC4 FANCM SLX4
14 brain morphogenesis GO:0048854 9.6 FANCC FANCD2
15 regulation of regulatory T cell differentiation GO:0045589 9.59 FANCA FANCD2
16 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.58 BRCA1 BRCA2
17 telomere maintenance via recombination GO:0000722 9.58 BRCA2 RAD51 RAD51C
18 inner cell mass cell proliferation GO:0001833 9.57 BRCA2 PALB2
19 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.56 ERCC4 SLX4
20 protein K6-linked ubiquitination GO:0085020 9.54 BRCA1 UBE2T
21 chordate embryonic development GO:0043009 9.52 BRCA1 BRCA2
22 regulation of CD40 signaling pathway GO:2000348 9.51 FANCA FANCD2
23 interstrand cross-link repair GO:0036297 9.5 ERCC4 FANCA FANCB FANCC FANCD2 FANCE
24 mitotic recombination-dependent replication fork processing GO:1990426 9.48 BRCA2 RAD51
25 cellular response to DNA damage stimulus GO:0006974 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 DNA binding GO:0003677 9.91 BRCA1 BRCA2 BRIP1 ERCC4 FANCI FANCM
2 ubiquitin-protein transferase activity GO:0004842 9.71 BRCA1 FANCL RFWD3 UBE2T
3 protein binding GO:0005515 9.6 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
4 single-stranded DNA binding GO:0003697 9.54 BRCA2 ERCC4 RAD51
5 endodeoxyribonuclease activity GO:0004520 9.43 ERCC4 SLX4
6 damaged DNA binding GO:0003684 9.33 BRCA1 ERCC4 FANCG
7 crossover junction endodeoxyribonuclease activity GO:0008821 9.32 RAD51C SLX4
8 DNA polymerase binding GO:0070182 9.13 FANCD2 FANCI RAD51

Sources for Fanconi Anemia, Complementation Group a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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