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 57 75 29 13 13 6 38 40 73
Fanconi Anemia 57 12 76 24 53 25 59 75 37 29 6 44 15 63 40 73
Fanconi Pancytopenia 12 76 24 53 25 59
Fanconi's Anemia 38 12 53
Fanca 57 12 75
Fa 57 25 75
Fanconi Panmyelopathy 12 25
Estren-Dameshek Variant of Fanconi Pancytopenia 75
Estren-Dameshek Variant of Fanconi Anemia 75
Fanconi Anemia Complementation Group a 12
Fanconi Anemia Estren-Dameshek Variant 75
Fanconi Hypoplastic Anemia 25
Fanconi Anemia; Fa 57
Fanconis Anemia 55

Characteristics:

Orphanet epidemiological data:

59
fanconi anemia
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 57 227650
Disease Ontology 12 DOID:0111095 DOID:13636
ICD10 33 D61.09
MeSH 44 D005199
NCIt 50 C62505
SNOMED-CT 68 30575002
Orphanet 59 ORPHA84
MESH via Orphanet 45 D005199
ICD10 via Orphanet 34 D61.0
UMLS via Orphanet 74 C0015625
KEGG 37 H00238

Summaries for Fanconi Anemia, Complementation Group a

OMIM : 57 Fanconi anemia is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). Soulier et al. (2005) noted that the FANCA, -C, -E, -F, -G, and -L proteins are part of a nuclear multiprotein core complex which triggers activating monoubiquitination of the FANCD2 protein during S phase of the growth cycle and after exposure to DNA crosslinking agents. The FA/BRCA pathway is involved in the repair of DNA damage. Some cases of Fanconi anemia have presented with a VACTERL (192350) or VACTERL-H (276950, 314390) phenotype. In a group of 27 patients with Fanconi anemia group D1 (605724) due to biallelic mutations in the BRCA2 gene (600185), Alter et al. (2007) found that 5 patients had 3 or more VATER association anomalies and 1 was diagnosed with VACTERL-H. A VATER phenotype has also been reported in Fanconi anemia of complementation groups A, C (227645), E (600901), F (603467), and G (602956); VACTERL-H has also been described in patients with FANCB (300515) mutations (McCauley et al., 2011). Savage et al. (2015) added patients with FANCI (609053) to this list and stated that patients with FANCD2 (227646) and FANCL (614083) had also been reported to have features of VACTERL association. (227650)

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 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 alemtuzumab and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include Blood, bone and bone marrow, and related phenotypes are hypertelorism and frontal bossing

UniProtKB/Swiss-Prot : 75 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 : 53 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. 

Genetics Home Reference : 25 Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers.

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 : 63 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 : 76 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 all 47)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group d2 35.6 BRCA2 FANCD2 RAD51
2 maternal uniparental disomy of chromosome 16 33.3 FANCA SLX4
3 deficiency anemia 33.3 FANCA FANCC FANCD2 FANCG
4 fanconi anemia, complementation group e 33.2 FANCA FANCC FANCD2 FANCE FANCF FANCG
5 fanconi anemia, complementation group f 33.2 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
6 fanconi anemia, complementation group b 33.0 FANCA FANCB FANCC FANCD2 FANCE FANCF
7 squamous cell carcinoma, head and neck 33.0 FANCA FANCE FANCF FANCL
8 congenital hypoplastic anemia 32.5 BRCA2 BRIP1 FANCA FANCC FANCD2 FANCE
9 tracheoesophageal fistula 32.3 BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC
10 fanconi anemia, complementation group c 12.5
11 autoimmune lymphoproliferative syndrome 11.7
12 fetal alcohol syndrome 11.7
13 friedreich ataxia 1 11.5
14 fetal alcohol spectrum disorder 11.3
15 hereditary site-specific ovarian cancer syndrome 11.3 BRCA1 BRCA2
16 alcohol-related birth defect 11.2
17 tracheoesophageal fistula with or without esophageal atresia 11.2 BRCA2 FANCC PALB2
18 breast reconstruction 11.2 BRCA1 BRCA2
19 tuberculous salpingitis 11.2 BRCA1 BRCA2
20 nosophobia 11.2 BRCA1 BRCA2
21 warsaw breakage syndrome 11.2 BRCA1 BRIP1 FANCM
22 bilateral breast cancer 11.2 BRCA1 BRCA2 RAD51
23 cancerophobia 11.2 BRCA1 BRCA2
24 female breast cancer 11.1 BRCA1 BRCA2 PALB2
25 sporadic breast cancer 11.1 BRCA1 BRCA2 FANCD2 RAD51
26 bap1 tumor predisposition syndrome 11.1 BRCA2 PALB2
27 uterine corpus serous adenocarcinoma 11.1 BRCA1 BRCA2
28 female reproductive organ cancer 11.1 BRCA1 BRCA2 RAD51C
29 breast-ovarian cancer, familial 1 11.0 BRCA1 BRCA2
30 synchronous bilateral breast carcinoma 11.0 BRCA1 BRCA2
31 hereditary breast ovarian cancer syndrome 11.0 BRCA1 BRCA2 BRIP1 PALB2 RAD51 RAD51C
32 fallopian tube adenocarcinoma 11.0 BRCA1 BRCA2
33 fanconi anemia, complementation group t 11.0
34 peritoneum cancer 10.9 BRCA1 BRCA2
35 glycogen-rich clear cell breast carcinoma 10.8 BRCA1 BRCA2
36 seckel syndrome 10.8
37 premature menopause 10.7 BRCA1 BRCA2
38 tumor predisposition syndrome 10.4 BRCA2 PALB2
39 squamous cell carcinoma 9.9
40 breast cancer 9.8
41 ovarian cancer 9.8
42 small cell cancer of the lung 9.8
43 lung cancer 9.8
44 pancreatic cancer 9.8
45 premature ovarian failure 1 9.8
46 leukemia, acute myeloid 9.8
47 cervical cancer 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:

57
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

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

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

Skeletal Hands:
thumb hypoplasia
thumb deformity
thumb aplasia
duplicated thumb


Clinical features from OMIM:

227650

Human phenotypes related to Fanconi Anemia, Complementation Group a:

59 32 (show top 50) (show all 130)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
3 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
4 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
5 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
6 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
7 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
8 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
9 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
10 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
11 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
12 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
13 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
14 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
15 pes planus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001763
16 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
17 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
18 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
19 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
20 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
21 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
22 anemia 59 32 Very frequent (99-80%) HP:0001903
23 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
24 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
25 myelodysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002863
26 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
27 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
28 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
29 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
30 dolichocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000268
31 reduced bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0004349
32 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
33 arteriovenous malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0100026
34 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
35 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
36 external ear malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0008572
37 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
38 thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001873
39 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
40 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
41 hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000135
42 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
43 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
44 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
45 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
46 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
47 abnormality of femur morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002823
48 abnormality of chromosome stability 59 32 hallmark (90%) Very frequent (99-80%) HP:0003220
49 multiple cafe-au-lait spots 59 32 occasional (7.5%) Occasional (29-5%) HP:0007565
50 irregular hyperpigmentation 59 32 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:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.92 RAD51 BRCA1
2 Decreased homologous recombination repair frequency GR00151-A-2 10.92 RAD51 BRCA1
3 Decreased homologous recombination repair frequency GR00236-A-1 10.92 PALB2 RAD51 BRCA1 BRCA2 FANCA FANCI
4 Decreased homologous recombination repair frequency GR00236-A-2 10.92 BRCA1 PALB2 RAD51 BRCA2 FANCA FANCI
5 Decreased homologous recombination repair frequency GR00236-A-3 10.92 BRCA1 PALB2 RAD51 BRCA2 FANCA RFWD3
6 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 10.27 FANCL RFWD3 FANCC FANCF
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 PALB2 RAD51 RAD51C RFWD3 UBE2T BRCA1
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 FANCA FANCD2 FANCM PALB2 UBE2T BRCA1
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.85 ERCC4 FANCA FANCD2 FANCM PALB2 UBE2T
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 RFWD3 SLX4 BRCA1 BRCA2 BRIP1 ERCC4
2 endocrine/exocrine gland MP:0005379 10.17 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCC
3 growth/size/body region MP:0005378 10.03 FANCB FANCD2 FANCF FANCL PALB2 RAD51
4 mortality/aging MP:0010768 10 FANCD2 FANCF FANCI FANCL FANCM PALB2
5 neoplasm MP:0002006 9.56 BRCA1 BRCA2 BRIP1 FANCA FANCD2 FANCF
6 reproductive system MP:0005389 9.47 SLX4 BRCA1 BRCA2 BRIP1 FANCA FANCB

Drugs & Therapeutics for Fanconi Anemia, Complementation Group a

PubMedHealth treatment related to Fanconi Anemia, Complementation Group a: 63

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

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

(show top 50) (show all 109)
# 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,Not Applicable 55-98-1 2478
3
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 50-18-0, 6055-19-2 2907
4
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 21679-14-1, 75607-67-9 30751
5
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1 24356-66-9 32326 21704
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,Not Applicable 22916-47-8 4189
8
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 128794-94-5 5281078
9
Mycophenolic acid Approved Phase 2, Phase 3,Phase 1,Not Applicable 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 5284616 6436030 46835353
12 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
13 Anti-Infective Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
14 Antimetabolites Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
15 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
16 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
17 Antirheumatic Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
18 Antiviral Agents Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1
19 Immunosuppressive 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 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 1,Not Applicable
22 Antifungal Agents Phase 2, Phase 3,Phase 1,Not Applicable
23 Antitubercular Agents Phase 2, Phase 3,Phase 1,Not Applicable
24
Melphalan Approved Phase 2,Phase 1,Not Applicable 148-82-3 4053 460612
25
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 83-43-2 6741
26
Prednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 50-24-8 5755
27
Lenograstim Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable 135968-09-1
28
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
29
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
30
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
31
Iron Approved Phase 2 7439-89-6 23925
32
Deferiprone Approved Phase 2 30652-11-0 2972
33
Metformin Approved Phase 2 657-24-9 14219 4091
34
Cisplatin Approved Phase 1, Phase 2 15663-27-1 84093 441203 2767
35
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750
36
Tacrolimus Approved, Investigational Phase 2,Phase 1 104987-11-3 445643 439492
37
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
38
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
39
Fosphenytoin Approved, Investigational Phase 1, Phase 2 93390-81-9 56339
40
Phenytoin Approved, Vet_approved Phase 1, Phase 2 57-41-0 1775
41 Talazoparib Investigational Phase 2 1207456-01-6
42 Antiemetics Phase 2,Phase 1,Not Applicable
43 Anti-Inflammatory Agents Phase 2,Phase 1,Not Applicable
44 Antilymphocyte Serum Phase 2,Phase 1,Not Applicable
45 Antineoplastic Agents, Hormonal Phase 2,Phase 1,Not Applicable
46 Autonomic Agents Phase 2,Phase 1,Not Applicable
47 Gastrointestinal Agents Phase 2,Phase 1,Not Applicable
48 glucocorticoids Phase 2,Phase 1,Not Applicable
49 Hormone Antagonists Phase 2,Phase 1,Not Applicable
50 Hormones Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 84)
# 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 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
5 Multicenter Transplant Study for Fanconi Anemia Completed NCT01082133 Phase 2 Chemotherapy
6 Hematopoietic Stem Cell Transplant for Fanconi Anemia Completed NCT01071239 Phase 2 Busulfan;Fludarabine;Cyclophosphamide;ATG
7 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
8 Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Completed NCT00987480 Phase 2 Busulfan, fludarabine, & cyclophosphamide with immunosuppression with ATG and cyclosporine.
9 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
10 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2 Antithymocyte globulin;Cyclosporine
11 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
12 Bortezomib Followed by High-Dose Melphalan and Bortezomib as Conditioning Regimen for Tandem Stem Cell Transplants Completed NCT00307086 Phase 2 Bortezomib;Melphalan
13 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
14 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
15 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
16 Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Completed NCT00872729 Phase 1, Phase 2 Cystagon®;RP103
17 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
18 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia Recruiting NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
19 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
20 Pilot Study of Metformin for Patients With Fanconi Anemia Recruiting NCT03398824 Phase 2 metformin HCl
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 Eltrombopag for People With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag
23 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
24 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
25 HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy Recruiting NCT02143830 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;rabbit ATG;G-CSF
26 Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A Recruiting NCT03157804 Phase 1, Phase 2 Plerixafor
27 Phase II Talazoparib in BRCA1 +BRCA2 Wild-Type &Triple-Neg /HER2-Negative Breast Cancer /SolidTumors Recruiting NCT02401347 Phase 2 Talazoparib Tosylate
28 A Study of LY2606368 (Prexasertib) in Patients With Solid Tumors With Replicative Stress or Homologous Repair Deficiency Recruiting NCT02873975 Phase 2 LY2606368
29 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
30 A Phase 1/2 Trial of SRA737 in Subjects With Advanced Cancer Recruiting NCT02797964 Phase 1, Phase 2 SRA737
31 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 Recruiting NCT02286687 Phase 2 Talazoparib Tosylate
32 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
33 Carfilzomib + High Dose Melphalan as Preparative Regimen for Autologous Hematopoietic Stem Cell Transplantation Active, not recruiting NCT01690143 Phase 1, Phase 2 Carfilzomib;Melphalan
34 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)
35 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2 danazol
36 Stem Cell Transplantation for Fanconi Anemia Terminated NCT00167206 Phase 1, Phase 2 Cyclophosphamide, Fludarabine
37 Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia Terminated NCT00590460 Phase 1, Phase 2 Fludarabine
38 Stem Cell Transplant for Hematologic Diseases Terminated NCT00058825 Phase 1, Phase 2 Fludarabine;FK506 (Tacrolimus) or Cyclosporine
39 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,
40 Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia Unknown status NCT00006127 Phase 1 amifostine
41 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
42 Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia Completed NCT00243399 Phase 1 Oxandrolone
43 Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi's Anemia Completed NCT00317876 Phase 1 cyclophosphamide;cyclosporine;methotrexate
44 Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia Completed NCT00272857 Phase 1
45 Gene Therapy for the Treatment of Fanconi's Anemia Type C Completed NCT00001399 Phase 1 Transduced CD34+ Cells
46 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
47 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1 Quercetin (dietary supplement)
48 Gene Therapy for Fanconi Anemia Recruiting NCT01331018 Phase 1 Methylprednisolone;Plerixafor;Prednisone
49 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
50 Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT Terminated NCT00586274 Phase 1 Fludarabine

Search NIH Clinical Center for Fanconi Anemia, Complementation Group a

Cell-based therapeutics:


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

Cochrane evidence based reviews: fanconi anemia

Genetic Tests for Fanconi Anemia, Complementation Group a

Genetic tests related to Fanconi Anemia, Complementation Group a:

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

Anatomical Context for Fanconi Anemia, Complementation Group a

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

41
Bone, Bone Marrow, Kidney, Skin, Eye, Breast, Myeloid
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Publications for Fanconi Anemia, Complementation Group a

Articles related to Fanconi Anemia, Complementation Group a:

(show top 50) (show all 668)
# Title Authors Year
1
Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML. ( 29416752 )
2018
2
In Reference to Fanconi Anemia and Laron Syndrome. ( 29891046 )
2018
3
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. ( 29904161 )
2018
4
About a Suggestive Association Between Fanconi Anemia and Laron Syndrome. ( 29891047 )
2018
5
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
6
Fanconi anemia pathway. ( 28950089 )
2017
7
Mouth examination performance by children's parents and by adolescents in Fanconi anemia. ( 28500741 )
2017
8
Hematopoietic cell transplantation in Fanconi anemia and dyskeratosis congenita: A minireview. ( 28644950 )
2017
9
Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia. ( 28419882 )
2017
10
Constitutive role of the Fanconi anemia D2 gene in the replication stress response. ( 29021208 )
2017
11
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
12
Mechanism of Ubiquitination and Deubiquitination in the Fanconi Anemia Pathway. ( 27986371 )
2017
13
Characterization of two novel FANCG mutations in Indian Fanconi anemia patients. ( 28024295 )
2017
14
Alpha-fetoprotein and Fanconi Anemia: Relevance to DNA Repair and Breast Cancer Susceptibility. ( 27690720 )
2017
15
Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia. ( 28691929 )
2017
16
Studies of protein-protein interactions in Fanconi anemia pathway to unravel the DNA interstrand crosslink repair mechanism. ( 28684355 )
2017
17
Coordination of the recruitment of the FANCD2 and PALB2 Fanconi anemia proteins by an ubiquitin signaling network. ( 27277787 )
2017
18
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia. ( 29278735 )
2017
19
Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia. ( 28766551 )
2017
20
Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations. ( 27714961 )
2017
21
Fanconi anemia FANCD2 and FANCI proteins regulate the nuclear dynamics of splicing factors. ( 29030393 )
2017
22
Population pharmacokinetics of fludarabine in patients with aplastic anemia and Fanconi anemia undergoing allogeneic hematopoietic stem cell transplantation. ( 28481355 )
2017
23
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
24
Generation of an induced pluripotent stem cell line that mimics the disease phenotypes from a patient with Fanconi anemia by conditional complementation. ( 28395741 )
2017
25
Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia. ( 27760710 )
2017
26
Fanconi Anemia and Laron Syndrome. ( 28502327 )
2017
27
Ubiquitination-Linked Phosphorylation of the FANCI S/TQ Cluster Contributes to Activation of the Fanconi Anemia I/D2 Complex. ( 28636932 )
2017
28
Fanconi anemia: correlating central nervous system malformations and genetic complementation groups. ( 28283722 )
2017
29
Allosteric targeting of the Fanconi anemia ubiquitin-conjugating enzyme Ube2T by fragment screening. ( 28437106 )
2017
30
Cells Deficient in the Fanconi Anemia Protein FANCD2 are Hypersensitive to the Cytotoxicity and DNA Damage Induced by Coffee and Caffeic Acid. ( 27399778 )
2016
31
FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients. ( 26799702 )
2016
32
Biallelic inactivation of REV7 is associated with Fanconi anemia. ( 27500492 )
2016
33
BLM promotes the activation of Fanconi Anemia signaling pathway. ( 27083049 )
2016
34
Fanconi Anemia and Fanconi Syndrome: Time to Correct the Misnomers. ( 27571122 )
2016
35
How SUMOylation Fine-Tunes the Fanconi Anemia DNA Repair Pathway. ( 27148358 )
2016
36
Fanconi Anemia Concurrent with an Unusual Thumb Polydactyly: A Case Report. ( 27200401 )
2016
37
Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS. ( 27028275 )
2016
38
Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes. ( 27428025 )
2016
39
Fanconi anemia in 55-year-old identical twins first presenting as fatal post-chemotherapy pancytopenia. ( 27427815 )
2016
40
Aurora A kinase is required for activation of the Fanconi anemia/BRCA pathway upon DNA damage. ( 27398318 )
2016
41
Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia. ( 26841305 )
2016
42
I9Np63 activates the Fanconi anemia DNA repair pathway and limits the efficacy of cisplatin treatment in squamous cell carcinoma. ( 26819410 )
2016
43
Forkhead transcription factor FoxF1 interacts with Fanconi anemia protein complexes to promote DNA damage response. ( 26625197 )
2016
44
Sequential renal and bone marrow transplants in a child with Fanconi anemia. ( 26481770 )
2016
45
TGF-I^ Inhibition Rescues Hematopoietic Stem Cell Defects and Bone Marrow Failure in Fanconi Anemia. ( 27053300 )
2016
46
FANCONI ANEMIA PRESENTING AS BILATERAL DIFFUSE RETINAL OCCLUSIVE VASCULOPATHY. ( 26579591 )
2016
47
AMP-activated protein kinase is involved in the activation of the Fanconi anemia/BRCA pathway in response to DNA interstrand crosslinks. ( 27449087 )
2016
48
Replication Protein A (RPA) deficiency activates the Fanconi anemia DNA repair pathway. ( 27398742 )
2016
49
Novel FANCI mutations in Fanconi anemia with VACTERL association. ( 26590883 )
2016
50
Impaired TIP60-mediated H4K16 acetylation accounts for the aberrant chromatin accumulation of 53BP1 and RAP80 in Fanconi anemia pathway-deficient cells. ( 26446986 )
2016

Variations for Fanconi Anemia, Complementation Group a

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

75 (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 3721)
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCA NM_000135.2: c.1627_1900del274 deletion Pathogenic
2 FANCA NM_000135.2(FANCA): c.1115_1118delTTGG (p.Val372Alafs) deletion Pathogenic rs397507552 GRCh37 Chromosome 16, 89858442: 89858445
3 FANCA NM_000135.2(FANCA): c.1115_1118delTTGG (p.Val372Alafs) deletion Pathogenic rs397507552 GRCh38 Chromosome 16, 89792034: 89792037
4 FANCA FANCA, 156-BP DEL, NT1515 deletion Pathogenic
5 FANCA NM_000135.2(FANCA): c.894_1006del113 (p.Trp298Cysfs) deletion Pathogenic
6 FANCA NM_000135.2(FANCA): c.1615delG (p.Asp539Thrfs) deletion Pathogenic rs778507965 GRCh38 Chromosome 16, 89782870: 89782870
7 FANCA NM_000135.2(FANCA): c.1615delG (p.Asp539Thrfs) deletion Pathogenic rs778507965 GRCh37 Chromosome 16, 89849278: 89849278
8 FANCA NM_000135.3(FANCA): c.3558dup (p.Arg1187Glufs) duplication Pathogenic rs747851434 GRCh38 Chromosome 16, 89745027: 89745027
9 FANCA NM_000135.3(FANCA): c.3558dup (p.Arg1187Glufs) duplication Pathogenic rs747851434 GRCh37 Chromosome 16, 89811435: 89811435
10 FANCA NM_000135.2(FANCA): c.1007_3066del deletion Pathogenic GRCh38 Chromosome 16, 89751224: 89795381
11 FANCA NM_000135.2(FANCA): c.1007_3066del deletion Pathogenic GRCh37 Chromosome 16, 89817632: 89861789
12 FANCA NM_000135.2(FANCA): c.1606delT (p.Ser536Glnfs) deletion Pathogenic rs587776570 GRCh38 Chromosome 16, 89782879: 89782879
13 FANCA NM_000135.2(FANCA): c.1606delT (p.Ser536Glnfs) deletion Pathogenic rs587776570 GRCh37 Chromosome 16, 89849287: 89849287
14 FANCA NM_000135.3(FANCA): c.513G> A (p.Trp171Ter) single nucleotide variant Pathogenic rs121907930 GRCh37 Chromosome 16, 89877124: 89877124
15 FANCA NM_000135.3(FANCA): c.513G> A (p.Trp171Ter) single nucleotide variant Pathogenic rs121907930 GRCh38 Chromosome 16, 89810716: 89810716
16 FANCA NM_000135.2(FANCA): c.3720_3724delAAACA (p.Glu1240Aspfs) deletion Pathogenic rs794726660 GRCh38 Chromosome 16, 89742841: 89742845
17 FANCA NM_000135.2(FANCA): c.3720_3724delAAACA (p.Glu1240Aspfs) deletion Pathogenic rs794726660 GRCh37 Chromosome 16, 89809249: 89809253
18 FANCF NM_022725.3(FANCF): c.230_252del23 (p.Val77Glyfs) deletion Pathogenic rs730880277 GRCh37 Chromosome 11, 22647105: 22647127
19 FANCF NM_022725.3(FANCF): c.230_252del23 (p.Val77Glyfs) deletion Pathogenic rs730880277 GRCh38 Chromosome 11, 22625559: 22625581
20 FANCF NM_022725.3(FANCF): c.484_485delCT (p.Leu162Aspfs) deletion Likely pathogenic rs587778340 GRCh37 Chromosome 11, 22646872: 22646873
21 FANCF NM_022725.3(FANCF): c.484_485delCT (p.Leu162Aspfs) deletion Likely pathogenic rs587778340 GRCh38 Chromosome 11, 22625326: 22625327
22 FANCG NM_004629.1(FANCG): c.1480+1G> C single nucleotide variant Pathogenic rs149616199 GRCh37 Chromosome 9, 35075275: 35075275
23 FANCG NM_004629.1(FANCG): c.1480+1G> C single nucleotide variant Pathogenic rs149616199 GRCh38 Chromosome 9, 35075278: 35075278
24 FANCC NM_000136.2(FANCC): c.553C> T (p.Arg185Ter) single nucleotide variant Pathogenic rs121917783 GRCh37 Chromosome 9, 97912338: 97912338
25 FANCC NM_000136.2(FANCC): c.553C> T (p.Arg185Ter) single nucleotide variant Pathogenic rs121917783 GRCh38 Chromosome 9, 95150056: 95150056
26 FANCC NM_000136.2(FANCC): c.456+4A> T single nucleotide variant Pathogenic rs104886456 GRCh37 Chromosome 9, 97934315: 97934315
27 FANCC NM_000136.2(FANCC): c.456+4A> T single nucleotide variant Pathogenic rs104886456 GRCh38 Chromosome 9, 95172033: 95172033
28 FANCC NM_000136.2(FANCC): c.37C> T (p.Gln13Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917784 GRCh37 Chromosome 9, 98011537: 98011537
29 FANCC NM_000136.2(FANCC): c.37C> T (p.Gln13Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917784 GRCh38 Chromosome 9, 95249255: 95249255
30 FANCC NM_000136.2(FANCC): c.1642C> T (p.Arg548Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886457 GRCh37 Chromosome 9, 97864024: 97864024
31 FANCC NM_000136.2(FANCC): c.1642C> T (p.Arg548Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886457 GRCh38 Chromosome 9, 95101742: 95101742
32 FANCC NM_000136.2(FANCC): c.67delG (p.Asp23Ilefs) deletion Pathogenic rs104886459 GRCh37 Chromosome 9, 98011507: 98011507
33 FANCC NM_000136.2(FANCC): c.67delG (p.Asp23Ilefs) deletion Pathogenic rs104886459 GRCh38 Chromosome 9, 95249225: 95249225
34 FANCA NM_000135.2(FANCA): c.3788_3790delTCT (p.Phe1263del) deletion Pathogenic rs397507553 GRCh37 Chromosome 16, 89807250: 89807252
35 FANCA NM_000135.2(FANCA): c.3788_3790delTCT (p.Phe1263del) deletion Pathogenic rs397507553 GRCh38 Chromosome 16, 89740842: 89740844
36 BRCA1 NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp) single nucleotide variant Pathogenic rs55770810 GRCh37 Chromosome 17, 41215948: 41215948
37 BRCA1 NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp) single nucleotide variant Pathogenic rs55770810 GRCh38 Chromosome 17, 43063931: 43063931
38 FANCC NM_000136.2(FANCC): c.355_360delTCTCATinsA (p.Ser119Asnfs) indel Pathogenic/Likely pathogenic rs587779904 GRCh37 Chromosome 9, 97934415: 97934420
39 FANCC NM_000136.2(FANCC): c.355_360delTCTCATinsA (p.Ser119Asnfs) indel Pathogenic/Likely pathogenic rs587779904 GRCh38 Chromosome 9, 95172133: 95172138
40 FANCC NM_000136.2(FANCC): c.843+1G> A single nucleotide variant Likely pathogenic rs587779909 GRCh37 Chromosome 9, 97897627: 97897627
41 FANCC NM_000136.2(FANCC): c.843+1G> A single nucleotide variant Likely pathogenic rs587779909 GRCh38 Chromosome 9, 95135345: 95135345
42 FANCA NM_000135.2(FANCA): c.862G> T (p.Glu288Ter) single nucleotide variant Pathogenic rs148100796 GRCh37 Chromosome 16, 89865605: 89865605
43 FANCA NM_000135.2(FANCA): c.862G> T (p.Glu288Ter) single nucleotide variant Pathogenic rs148100796 GRCh38 Chromosome 16, 89799197: 89799197
44 FANCA NM_000135.2(FANCA): c.3066+1G> T single nucleotide variant Pathogenic rs587783028 GRCh38 Chromosome 16, 89752137: 89752137
45 FANCA NM_000135.2(FANCA): c.3066+1G> T single nucleotide variant Pathogenic rs587783028 GRCh37 Chromosome 16, 89818545: 89818545
46 FANCB NM_001018113.2(FANCB): c.1105-6_1105-3dupTATT duplication Benign/Likely benign rs398123537 GRCh37 Chromosome X, 14876079: 14876082
47 FANCB NM_001018113.2(FANCB): c.1105-6_1105-3dupTATT duplication Benign/Likely benign rs398123537 GRCh38 Chromosome X, 14857957: 14857960
48 FANCC NM_000136.2(FANCC): c.1643G> A (p.Arg548Gln) single nucleotide variant Uncertain significance rs730881729 GRCh38 Chromosome 9, 95101741: 95101741
49 FANCC NM_000136.2(FANCC): c.1643G> A (p.Arg548Gln) single nucleotide variant Uncertain significance rs730881729 GRCh37 Chromosome 9, 97864023: 97864023
50 FANCC NM_000136.2(FANCC): c.1534-5T> G single nucleotide variant Uncertain significance rs730881727 GRCh38 Chromosome 9, 95101855: 95101855

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:

37
# 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 replication fork GO:0005657 9.48 RAD51 RAD51C
5 Rad51B-Rad51C-Rad51D-XRCC2 complex GO:0033063 9.46 RAD51 RAD51C
6 Holliday junction resolvase complex GO:0048476 9.43 RAD51C SLX4
7 lateral element GO:0000800 9.43 BRCA1 BRCA2 RAD51
8 ERCC4-ERCC1 complex GO:0070522 9.4 ERCC4 SLX4
9 Fanconi anaemia nuclear complex GO:0043240 9.23 FANCA FANCB FANCC FANCE FANCF FANCG
10 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 30)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.96 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
2 regulation of cell proliferation GO:0042127 9.92 BRCA1 BRCA2 FANCA FANCL
3 DNA recombination GO:0006310 9.88 BRCA1 BRCA2 PALB2 RAD51 RAD51C SLX4
4 double-strand break repair via homologous recombination GO:0000724 9.86 BRCA1 BRCA2 ERCC4 PALB2 RAD51 RAD51C
5 DNA synthesis involved in DNA repair GO:0000731 9.85 BRCA1 BRCA2 BRIP1 PALB2 RAD51 RAD51C
6 strand displacement GO:0000732 9.8 BRCA1 BRCA2 BRIP1 PALB2 RAD51 RAD51C
7 double-strand break repair GO:0006302 9.76 BRCA1 BRCA2 BRIP1
8 response to ionizing radiation GO:0010212 9.76 BRCA1 RAD51 RAD51C RFWD3
9 nucleotide-excision repair GO:0006289 9.73 BRCA2 ERCC4 FANCC SLX4
10 replication fork processing GO:0031297 9.71 FANCM RAD51 RFWD3
11 gamete generation GO:0007276 9.69 FANCC FANCD2 FANCL
12 resolution of meiotic recombination intermediates GO:0000712 9.67 ERCC4 FANCM SLX4
13 male meiosis I GO:0007141 9.65 BRCA2 RAD51C
14 telomere maintenance via recombination GO:0000722 9.65 BRCA2 RAD51 RAD51C
15 neuronal stem cell population maintenance GO:0097150 9.64 FANCC FANCD2
16 brain morphogenesis GO:0048854 9.64 FANCC FANCD2
17 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.63 BRCA1 BRCA2
18 regulation of regulatory T cell differentiation GO:0045589 9.63 FANCA FANCD2
19 mitotic recombination GO:0006312 9.62 RAD51 RAD51C
20 inner cell mass cell proliferation GO:0001833 9.61 BRCA2 PALB2
21 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.61 ERCC4 SLX4
22 DNA recombinase assembly GO:0000730 9.6 RAD51 RAD51C
23 protein K6-linked ubiquitination GO:0085020 9.59 BRCA1 UBE2T
24 strand invasion GO:0042148 9.58 RAD51 RAD51C
25 meiotic DNA recombinase assembly GO:0000707 9.57 RAD51 RAD51C
26 chordate embryonic development GO:0043009 9.56 BRCA1 BRCA2
27 regulation of CD40 signaling pathway GO:2000348 9.55 FANCA FANCD2
28 mitotic recombination-dependent replication fork processing GO:1990426 9.52 BRCA2 RAD51
29 interstrand cross-link repair GO:0036297 9.5 ERCC4 FANCA FANCB FANCC FANCD2 FANCE
30 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 protein binding GO:0005515 9.96 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
2 ubiquitin-protein transferase activity GO:0004842 9.78 BRCA1 FANCL RFWD3 UBE2T
3 single-stranded DNA binding GO:0003697 9.56 BRCA2 ERCC4 RAD51 RAD51C
4 damaged DNA binding GO:0003684 9.5 BRCA1 ERCC4 FANCG
5 four-way junction DNA binding GO:0000400 9.46 RAD51 RAD51C
6 crossover junction endodeoxyribonuclease activity GO:0008821 9.43 RAD51C SLX4
7 recombinase activity GO:0000150 9.37 RAD51 RAD51C
8 DNA polymerase binding GO:0070182 9.33 FANCD2 FANCI RAD51
9 endodeoxyribonuclease activity GO:0004520 8.92 ERCC4 RAD51 RAD51C SLX4
10 DNA binding GO:0003677 10.06 BRCA1 BRCA2 BRIP1 ERCC4 FANCI FANCM

Sources for Fanconi Anemia, Complementation Group a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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