FANCA
MCID: FNC027
MIFTS: 82

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 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 Anemia Complementation Group a 12 15
Fanconi Panmyelopathy 12 25
Estren-Dameshek Variant of Fanconi Pancytopenia 75
Estren-Dameshek Variant of Fanconi Anemia 75
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 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 Vidarabine and alemtuzumab 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

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 : 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.

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. 

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.

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 top 50) (show all 644)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group u 34.3 BRCA1 FANCD2 RAD51 RAD51C UBE2T XRCC2
2 fanconi anemia, complementation group r 34.2 BRCA1 ERCC4 FANCD2 FANCE FANCI FANCL
3 fanconi anemia, complementation group t 33.0 BRCA1 ERCC4 FANCA FANCD2 FANCE FANCI
4 fanconi anemia, complementation group l 32.5 FANCD2 FANCL UBE2T
5 fanconi anemia, complementation group o 32.5 FANCD2 FANCI FANCM RAD51C
6 fanconi anemia, complementation group n 32.5 BRCA2 BRIP1 FANCI FANCM PALB2
7 fanconi anemia, complementation group i 32.5 FANCD2 FANCI
8 fanconi anemia, complementation group f 32.3 BRCA2 FANCA FANCC FANCD2 FANCF FANCG
9 fanconi anemia, complementation group e 32.3 BRCA1 FANCA FANCC FANCD2 FANCE FANCF
10 fanconi anemia, complementation group b 32.3 FANCA FANCB FANCC FANCD2 FANCE FANCF
11 fanconi anemia, complementation group p 32.2 FANCA FANCM SLX4
12 maternal uniparental disomy of chromosome 16 32.2 FANCA SLX4
13 fanconi anemia, complementation group d2 32.2 BRCA2 FANCA FANCD2 RAD51
14 tracheoesophageal fistula 32.2 BRCA2 BRIP1 FANCA FANCC PALB2
15 fanconi anemia, complementation group d1 32.2 BRCA2 FANCA FANCC FANCD2 FANCE FANCF
16 squamous cell carcinoma, head and neck 32.2 FANCA FANCC FANCE FANCF FANCL
17 fanconi anemia, complementation group v 32.2 BRCA1 FANCA FANCD2 RAD51 UBE2T XRCC2
18 fanconi anemia, complementation group j 32.2 BRCA1 BRIP1 FANCA FANCC FANCD2 FANCI
19 congenital hypoplastic anemia 32.1 BRCA2 BRIP1 FANCA FANCC FANCD2 FANCE
20 fanconi anemia, complementation group q 32.0 BRCA1 BRCA2 ERCC4 FANCA FANCD2 FANCE
21 deficiency anemia 30.6 FANCA FANCC FANCD2 FANCG
22 tracheoesophageal fistula with or without esophageal atresia 30.4 BRCA2 FANCC PALB2
23 pancreas adenocarcinoma 30.0 BRCA1 BRCA2 PALB2
24 lynch syndrome 29.8 BRCA1 BRCA2 XRCC2
25 fanconi anemia, complementation group c 12.7
26 fanconi anemia, complementation group s 12.5
27 fanconi anemia, complementation group w 12.5
28 autoimmune lymphoproliferative syndrome 11.9
29 fetal alcohol syndrome 11.9
30 friedreich ataxia 1 11.6
31 vacterl association with hydrocephalus 11.6
32 fanconi syndrome 11.6
33 warsaw breakage syndrome 11.5
34 fetal alcohol spectrum disorder 11.5
35 aplastic anemia 11.5
36 alcohol-related birth defect 11.4
37 nijmegen breakage syndrome 11.4
38 thrombocytopenia-absent radius syndrome 11.4
39 fanconi anemia, complementation group g 11.3
40 neuroblastoma 11.1
41 polydactyly, preaxial ii 11.1
42 amegakaryocytic thrombocytopenia, congenital 11.1
43 diamond-blackfan anemia 11.1
44 pituitary stalk interruption syndrome 11.1
45 fundus albipunctatus 11.0
46 dianzani autoimmune lymphoproliferative disease 11.0
47 seckel syndrome 10.9
48 otodental dysplasia 10.9
49 caspase 8 deficiency 10.9
50 leukemia 10.5

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 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.97 BRCA1 RAD51 XRCC2
2 Decreased homologous recombination repair frequency GR00151-A-2 10.97 BRCA1 RAD51 XRCC2
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
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.11 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCC
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.9 BRCA1 BRCA2 ERCC4 FANCA FANCD2 FANCM
8 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.9 BRCA1 BRCA2 ERCC4 FANCA FANCD2 FANCM
9 Increased gamma-H2AX phosphorylation GR00053-A 9.86 BRIP1 ERCC4 FANCA FANCC FANCE FANCI
10 Increased cell death HMECs cells GR00103-A-0 9.72 BRCA1 FANCL RAD51 RAD51C UBE2T
11 Decreased viability with cisplatin GR00101-A-4 9.67 BRCA1 BRCA2 BRIP1 RAD51
12 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 10.34 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
2 endocrine/exocrine gland MP:0005379 10.18 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCC
3 growth/size/body region MP:0005378 10.13 BRCA1 BRCA2 ERCC4 FANCA FANCB FANCD2
4 embryo MP:0005380 10.01 BRCA1 BRCA2 FANCA FANCL PALB2 RAD51
5 mortality/aging MP:0010768 10 BRCA1 BRCA2 ERCC4 FANCA FANCD2 FANCF
6 limbs/digits/tail MP:0005371 9.73 BRCA1 BRCA2 FANCD2 PALB2 SLX4 XRCC2
7 neoplasm MP:0002006 9.61 BRCA1 BRCA2 BRIP1 FANCA FANCD2 FANCF
8 reproductive system MP:0005389 9.44 BRCA1 BRCA2 BRIP1 FANCA FANCB FANCC

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
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1 24356-66-9 32326 21704
2
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1 216503-57-0
3
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 6055-19-2, 50-18-0 2907
4
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable 55-98-1 2478
5
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 75607-67-9, 21679-14-1 30751
6
Mycophenolic acid Approved Phase 2, Phase 3,Phase 1,Not Applicable 24280-93-1 446541
7
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1,Not Applicable 22916-47-8 4189
8
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
9
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 46835353 6436030 5284616
10 Anti-Infective Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
11 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
12 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
13 Antiviral Agents Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1
14 Antirheumatic Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
15 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
16 Antimetabolites Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
17 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
18 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
19 Antitubercular Agents Phase 2, Phase 3,Phase 1,Not Applicable
20 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 1,Not Applicable
21 Antifungal Agents Phase 2, Phase 3,Phase 1,Not Applicable
22 Anti-Bacterial Agents Phase 2, Phase 3,Phase 1,Not Applicable
23
Lenograstim Approved, Investigational Phase 2,Phase 1,Not Applicable 135968-09-1
24
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 83-43-2 6741
25
Prednisolone Approved, Vet_approved Phase 2,Phase 1,Not Applicable 50-24-8 5755
26
Methylprednisolone hemisuccinate Approved Phase 2,Phase 1,Not Applicable 2921-57-5
27
Melphalan Approved Phase 2,Phase 1,Not Applicable 148-82-3 4053 460612
28
Prednisolone phosphate Approved, Vet_approved Phase 2,Phase 1,Not Applicable 302-25-0
29
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
30
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
31
Tacrolimus Approved, Investigational Phase 2,Phase 1 104987-11-3 445643 439492
32
Iron Approved Phase 2 7439-89-6 23925
33
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
34
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
35
Metformin Approved Phase 2 657-24-9 14219 4091
36 Talazoparib Approved, Investigational Phase 2 1207456-01-6
37
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750
38
Cisplatin Approved Phase 1, Phase 2 15663-27-1 2767 441203 84093
39
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
40
Fosphenytoin Approved, Investigational Phase 1, Phase 2 93390-81-9 56339
41
Phenytoin Approved, Vet_approved Phase 1, Phase 2 57-41-0 1775
42
Prednisolone hemisuccinate Experimental Phase 2,Phase 1,Not Applicable 2920-86-7
43
Quercetin Experimental, Investigational Phase 2,Phase 1 117-39-5 5280343
44 Adjuvants, Immunologic Phase 2,Phase 1
45 Anti-Retroviral Agents Phase 2,Phase 1
46 Anti-HIV Agents Phase 2,Phase 1
47 JM 3100 Phase 2,Phase 1
48 Hormone Antagonists Phase 2,Phase 1,Not Applicable
49 Protective Agents Phase 2,Phase 1,Not Applicable
50 Peripheral Nervous System Agents Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 86)
# 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 TBI Dose De-escalation for Fanconi Anemia Recruiting NCT00352976 Phase 2, Phase 3 Cyclophosphamide;Fludarabine;Mycophenolate Mofetil;Sirolimus
3 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
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 Remission Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
14 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
15 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)
16 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2 Deferasirox
17 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia Recruiting NCT00258427 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;methylprednisolone
18 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
19 Pilot Study of Metformin for Patients With Fanconi Anemia Recruiting NCT03398824 Phase 2 metformin HCl
20 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
21 Eltrombopag for People With Fanconi Anemia Recruiting NCT03206086 Phase 2 Eltrombopag
22 Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia Recruiting NCT03476330 Phase 2 Quercetin (dietary supplement)
23 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)
24 HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy Recruiting NCT02143830 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;rabbit ATG;G-CSF
25 Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A Recruiting NCT03157804 Phase 1, Phase 2 Plerixafor
26 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
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 BRCA1/2 (Not Breast or Ovarian Cancer) 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 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
34 Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study Enrolling by invitation NCT03733249 Phase 1, Phase 2 Rimiducid
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 A Clinical Trial to Evaluate the Safety of RP-L102 in Pediatric Subjects With Fanconi Anemia Subtype A Recruiting NCT03814408 Phase 1
48 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1 Quercetin (dietary supplement)
49 Gene Therapy for Fanconi Anemia Recruiting NCT01331018 Phase 1 Methylprednisolone;Plerixafor;Prednisone
50 BMT Abatacept for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept

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, Breast, Myeloid, 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 1217)
# Title Authors Year
1
Combination therapy with atorvastatin and celecoxib delays tumor formation in a Fanconi anemia mouse model. ( 30255556 )
2019
2
Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML. ( 29416752 )
2018
3
In Reference to Fanconi Anemia and Laron Syndrome. ( 29891046 )
2018
4
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. ( 29904161 )
2018
5
About a Suggestive Association Between Fanconi Anemia and Laron Syndrome. ( 29891047 )
2018
6
Comparable Outcomes after HLA-Matched Sibling and Alternative Donor Hematopoietic Cell Transplantation for Children with Fanconi Anemia and Severe Aplastic Anemia. ( 29203412 )
2018
7
Correction: Population pharmacokinetics of fludarabine in patients with aplastic anemia and Fanconi anemia undergoing allogeneic hematopoietic stem cell transplantation. ( 30135463 )
2018
8
Fanconi Anemia and Ataxia Telangiectasia in Siblings who Inherited Unique Combinations of Novel FANCA and ATM Null Mutations. ( 30339652 )
2018
9
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
10
A Case of Superficial Esophageal Cancer in a Fanconi Anemia Patient that was Treated Successfully by Endoscopic Submucosal Resection. ( 30333403 )
2018
11
Endoscopic findings and esophageal cancer incidence among Fanconi Anemia patients participating in an endoscopic surveillance program. ( 30249500 )
2018
12
Sequential reduced-intensity chemotherapy for allogeneic hematopoietic stem cell transplantation in acute myeloid leukemia with rare cytogenetic abnormalities transformed from Fanconi anemia. ( 30255979 )
2018
13
Rare, pathogenic germline variants in Fanconi Anemia genes increase risk for squamous lung cancer. ( 30425093 )
2018
14
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
15
Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia. ( 30047418 )
2018
16
Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia. ( 29891941 )
2018
17
Fanconi anemia in twins with neutropenia: A case report. ( 30250602 )
2018
18
Salivary lactate dehydrogenase (LDH) as a tool for early diagnosis of oral cancer in individuals with Fanconi anemia. ( 30122487 )
2018
19
Oral cancer in Fanconi anemia: Review of 121 cases. ( 29650274 )
2018
20
Short-term follow-up of the nutritional status of children with Fanconi anemia undergoing hematopoietic stem cell transplant. ( 28975509 )
2018
21
Beyond interstrand crosslinks repair: contribution of FANCD2 and other Fanconi Anemia proteins to the replication of DNA. ( 29031493 )
2018
22
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. ( 29098742 )
2018
23
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. ( 29133208 )
2018
24
Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype. ( 29193904 )
2018
25
Bone Marrow Mesenchymal Stem Cells Carrying FANCD2 Mutation Differ from the Other Fanconi Anemia Complementation Groups in Terms of TGF-β1 Production. ( 29247345 )
2018
26
Multifaceted Fanconi Anemia Signaling. ( 29254745 )
2018
27
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia. ( 29269525 )
2018
28
Cell-Cycle-Specific Function of p53 in Fanconi Anemia Hematopoietic Stem and Progenitor Cell Proliferation. ( 29307578 )
2018
29
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF. ( 29325523 )
2018
30
Icariin improves Fanconi anemia hematopoietic stem cell function through SIRT6-mediated NF-kappa B inhibition. ( 29355456 )
2018
31
Reduced Cell Division Control Protein 42 Activity Compromises Hematopoiesis-Supportive Function of Fanconi Anemia Mesenchymal Stromal Cells. ( 29377497 )
2018
32
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
33
Fanconi anemia: from DNA repair to metabolism. ( 29396564 )
2018
34
Recent advances in understanding hematopoiesis in Fanconi Anemia. ( 29399332 )
2018
35
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
36
BRCA1 homozygous unclassified variant in a patient with non-Fanconi anemia: A case report. ( 29435075 )
2018
37
Inhibition of non-homologous end joining in Fanconi Anemia cells results in rescue of survival after interstrand crosslinks but sensitization to replication associated double-strand breaks. ( 29459202 )
2018
38
Fanconi anemia core complex-dependent HES1 mono-ubiquitination regulates its transcriptional activity. ( 29463306 )
2018
39
Risk Stratification of Oral Potentially Malignant Disorders in Fanconi Anemia Patients Using Autofluorescence Imaging and Cytology-On-A Chip Assay. ( 29481998 )
2018
40
Lipidomic Profiling Links the Fanconi Anemia Pathway to Glycosphingolipid Metabolism in Head and Neck Cancer Cells. ( 29530934 )
2018
41
The RecQ-like helicase HRQ1 is involved in DNA crosslink repair in Arabidopsis in a common pathway with the Fanconi anemia-associated nuclease FAN1 and the postreplicative repair ATPase RAD5A. ( 29577315 )
2018
42
Fanconi Anemia FANCM/FNCM-1 and FANCD2/FCD-2 Are Required for Maintaining Histone Methylation Levels and Interact with the Histone Demethylase LSD1/SPR-5 in Caenorhabditis elegans. ( 29588287 )
2018
43
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 )
2018
44
Withdrawn: Allogeneic Stem Cell Transplantation in Fanconi Anemia and other inherited bone marrow failure disorders. ( 29673308 )
2018
45
Novel Variations of FANCA Gene Provokes Fanconi Anemia: Molecular Diagnosis in a Special Chinese Family. ( 29702541 )
2018
46
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
47
Graves' orbitopathy after allogeneic bone marrow transplantation in a patient with Fanconi anemia - side effect of alemtuzumab therapy? ( 29744075 )
2018
48
Expression Profiling of Differentially Regulated Genes in Fanconi Anemia. ( 29767366 )
2018
49
A small molecule p53 activator attenuates Fanconi anemia leukemic stem cell proliferation. ( 29784053 )
2018
50
Chromosomal Aberrations and Survival after Unrelated Donor Hematopoietic Stem Cell Transplant in Patients with Fanconi Anemia. ( 29879518 )
2018

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 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 4909)
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCA NM_000135.2(FANCA): c.1615delG (p.Asp539Thrfs) deletion Pathogenic rs778507965 GRCh38 Chromosome 16, 89782870: 89782870
2 FANCA NM_000135.2(FANCA): c.1615delG (p.Asp539Thrfs) deletion Pathogenic rs778507965 GRCh37 Chromosome 16, 89849278: 89849278
3 FANCA NM_000135.2(FANCA): c.894_1006del113 (p.Trp298Cysfs) deletion Pathogenic
4 FANCA NM_000135.2: c.1627_1900del274 deletion Pathogenic
5 FANCA NM_000135.2(FANCA): c.1115_1118delTTGG (p.Val372Alafs) deletion Pathogenic rs397507552 GRCh37 Chromosome 16, 89858442: 89858445
6 FANCA NM_000135.2(FANCA): c.1115_1118delTTGG (p.Val372Alafs) deletion Pathogenic rs397507552 GRCh38 Chromosome 16, 89792034: 89792037
7 FANCA FANCA, 156-BP DEL, NT1515 deletion Pathogenic
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_000135.3(FANCA): c.3720_3724del (p.Glu1240Aspfs) deletion Pathogenic rs794726660 GRCh38 Chromosome 16, 89742841: 89742845
17 FANCA NM_000135.3(FANCA): c.3720_3724del (p.Glu1240Aspfs) deletion Pathogenic rs794726660 GRCh37 Chromosome 16, 89809249: 89809253
18 BRIP1 NM_032043.2(BRIP1): c.2392C> T (p.Arg798Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs137852986 GRCh37 Chromosome 17, 59793412: 59793412
19 BRIP1 NM_032043.2(BRIP1): c.2392C> T (p.Arg798Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs137852986 GRCh38 Chromosome 17, 61716051: 61716051
20 FANCF NM_022725.3(FANCF): c.230_252del23 (p.Val77Glyfs) deletion Pathogenic rs730880277 GRCh37 Chromosome 11, 22647105: 22647127
21 FANCF NM_022725.3(FANCF): c.230_252del23 (p.Val77Glyfs) deletion Pathogenic rs730880277 GRCh38 Chromosome 11, 22625559: 22625581
22 FANCF NM_022725.3(FANCF): c.484_485delCT (p.Leu162Aspfs) deletion Likely pathogenic rs587778340 GRCh37 Chromosome 11, 22646872: 22646873
23 FANCF NM_022725.3(FANCF): c.484_485delCT (p.Leu162Aspfs) deletion Likely pathogenic rs587778340 GRCh38 Chromosome 11, 22625326: 22625327
24 FANCG NM_004629.1(FANCG): c.313G> T (p.Glu105Ter) single nucleotide variant Pathogenic rs121434425 GRCh37 Chromosome 9, 35078335: 35078335
25 FANCG NM_004629.1(FANCG): c.313G> T (p.Glu105Ter) single nucleotide variant Pathogenic rs121434425 GRCh38 Chromosome 9, 35078338: 35078338
26 FANCG NM_004629.1(FANCG): c.1480+1G> C single nucleotide variant Pathogenic rs149616199 GRCh37 Chromosome 9, 35075275: 35075275
27 FANCG NM_004629.1(FANCG): c.1480+1G> C single nucleotide variant Pathogenic rs149616199 GRCh38 Chromosome 9, 35075278: 35075278
28 FANCG NM_004629.1(FANCG): c.1795_1804del (p.Trp599Profs) deletion Pathogenic rs397507560 GRCh37 Chromosome 9, 35074171: 35074180
29 FANCG NM_004629.1(FANCG): c.1795_1804del (p.Trp599Profs) deletion Pathogenic rs397507560 GRCh38 Chromosome 9, 35074174: 35074183
30 BRCA2 NM_000059.3(BRCA2): c.1114A> C (p.Asn372His) single nucleotide variant Benign rs144848 GRCh37 Chromosome 13, 32906729: 32906729
31 BRCA2 NM_000059.3(BRCA2): c.1114A> C (p.Asn372His) single nucleotide variant Benign rs144848 GRCh38 Chromosome 13, 32332592: 32332592
32 FANCC NM_000136.2(FANCC): c.553C> T (p.Arg185Ter) single nucleotide variant Pathogenic rs121917783 GRCh37 Chromosome 9, 97912338: 97912338
33 FANCC NM_000136.2(FANCC): c.553C> T (p.Arg185Ter) single nucleotide variant Pathogenic rs121917783 GRCh38 Chromosome 9, 95150056: 95150056
34 FANCC NM_000136.2(FANCC): c.456+4A> T single nucleotide variant Pathogenic rs104886456 GRCh37 Chromosome 9, 97934315: 97934315
35 FANCC NM_000136.2(FANCC): c.456+4A> T single nucleotide variant Pathogenic rs104886456 GRCh38 Chromosome 9, 95172033: 95172033
36 FANCC NM_000136.2(FANCC): c.37C> T (p.Gln13Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917784 GRCh37 Chromosome 9, 98011537: 98011537
37 FANCC NM_000136.2(FANCC): c.37C> T (p.Gln13Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917784 GRCh38 Chromosome 9, 95249255: 95249255
38 FANCC NM_000136.2(FANCC): c.1642C> T (p.Arg548Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886457 GRCh37 Chromosome 9, 97864024: 97864024
39 FANCC NM_000136.2(FANCC): c.1642C> T (p.Arg548Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104886457 GRCh38 Chromosome 9, 95101742: 95101742
40 FANCC NM_000136.2(FANCC): c.67delG (p.Asp23Ilefs) deletion Pathogenic rs104886459 GRCh37 Chromosome 9, 98011507: 98011507
41 FANCC NM_000136.2(FANCC): c.67delG (p.Asp23Ilefs) deletion Pathogenic rs104886459 GRCh38 Chromosome 9, 95249225: 95249225
42 FANCI; POLG NM_002693.2(POLG): c.3428A> G (p.Glu1143Gly) single nucleotide variant Benign/Likely benign rs2307441 GRCh37 Chromosome 15, 89861826: 89861826
43 FANCI; POLG NM_002693.2(POLG): c.3428A> G (p.Glu1143Gly) single nucleotide variant Benign/Likely benign rs2307441 GRCh38 Chromosome 15, 89318595: 89318595
44 FANCI; POLG NM_002693.2(POLG): c.3708G> T (p.Gln1236His) single nucleotide variant Benign/Likely benign rs3087374 GRCh37 Chromosome 15, 89859994: 89859994
45 FANCI; POLG NM_002693.2(POLG): c.3708G> T (p.Gln1236His) single nucleotide variant Benign/Likely benign rs3087374 GRCh38 Chromosome 15, 89316763: 89316763
46 BRCA2 NM_000059.3(BRCA2): c.3869G> A (p.Cys1290Tyr) single nucleotide variant Benign rs41293485 GRCh37 Chromosome 13, 32912361: 32912361
47 BRCA2 NM_000059.3(BRCA2): c.3869G> A (p.Cys1290Tyr) single nucleotide variant Benign rs41293485 GRCh38 Chromosome 13, 32338224: 32338224
48 BRCA2 NM_000059.3(BRCA2): c.4585G> A (p.Gly1529Arg) single nucleotide variant Benign rs28897728 GRCh37 Chromosome 13, 32913077: 32913077
49 BRCA2 NM_000059.3(BRCA2): c.4585G> A (p.Gly1529Arg) single nucleotide variant Benign rs28897728 GRCh38 Chromosome 13, 32338940: 32338940
50 BRCA2 NM_000059.3(BRCA2): c.5198C> T (p.Ser1733Phe) single nucleotide variant Benign rs55639415 GRCh37 Chromosome 13, 32913690: 32913690

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.26 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
12.71 BRCA1 BRCA2 ERCC4 FANCA FANCC FANCD2
5 12.56 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
6
Show member pathways
12.29 BRCA1 BRCA2 RAD51 RAD51C
7
Show member pathways
12.27 BRCA1 BRCA2 BRIP1 ERCC4 PALB2 RAD51
8
Show member pathways
12.15 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 replication fork GO:0005657 9.48 RAD51C XRCC2
5 Holliday junction resolvase complex GO:0048476 9.46 RAD51C SLX4
6 ERCC4-ERCC1 complex GO:0070522 9.43 ERCC4 SLX4
7 lateral element GO:0000800 9.43 BRCA1 BRCA2 RAD51
8 Rad51B-Rad51C-Rad51D-XRCC2 complex GO:0033063 9.4 RAD51C XRCC2
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 27)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.96 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
2 DNA recombination GO:0006310 9.87 BRCA1 BRCA2 PALB2 RAD51 RAD51C SLX4
3 double-strand break repair via homologous recombination GO:0000724 9.86 BRCA1 BRCA2 ERCC4 PALB2 RAD51 RAD51C
4 nucleotide-excision repair GO:0006289 9.77 BRCA2 BRIP1 ERCC4 FANCC SLX4
5 multicellular organism growth GO:0035264 9.76 BRCA2 PALB2 XRCC2
6 double-strand break repair GO:0006302 9.73 BRCA1 BRCA2 BRIP1
7 response to gamma radiation GO:0010332 9.67 BRCA2 FANCD2 XRCC2
8 male meiosis I GO:0007141 9.63 BRCA2 RAD51C
9 regulation of DNA-binding transcription factor activity GO:0051090 9.63 FANCA FANCD2
10 gamete generation GO:0007276 9.63 FANCC FANCD2 FANCL
11 female gonad development GO:0008585 9.62 BRCA2 FANCA
12 neuronal stem cell population maintenance GO:0097150 9.62 FANCC FANCD2
13 brain morphogenesis GO:0048854 9.61 FANCC FANCD2
14 response to X-ray GO:0010165 9.61 BRCA2 XRCC2
15 resolution of meiotic recombination intermediates GO:0000712 9.61 ERCC4 FANCM SLX4
16 regulation of regulatory T cell differentiation GO:0045589 9.6 FANCA FANCD2
17 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.59 BRCA1 BRCA2
18 inner cell mass cell proliferation GO:0001833 9.58 BRCA2 PALB2
19 telomere maintenance via recombination GO:0000722 9.58 BRCA2 RAD51 RAD51C
20 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.57 ERCC4 SLX4
21 protein K6-linked ubiquitination GO:0085020 9.55 BRCA1 UBE2T
22 chordate embryonic development GO:0043009 9.54 BRCA1 BRCA2
23 strand invasion GO:0042148 9.52 RAD51 XRCC2
24 regulation of CD40 signaling pathway GO:2000348 9.51 FANCA FANCD2
25 mitotic recombination-dependent replication fork processing GO:1990426 9.48 BRCA2 RAD51
26 interstrand cross-link repair GO:0036297 9.47 ERCC4 FANCA FANCB FANCC FANCD2 FANCE
27 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 9.85 BRCA1 BRCA2 BRIP1 ERCC4 FANCI FANCM
2 single-stranded DNA binding GO:0003697 9.61 BRCA2 ERCC4 RAD51
3 protein binding GO:0005515 9.6 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB
4 damaged DNA binding GO:0003684 9.5 BRCA1 ERCC4 FANCG
5 endodeoxyribonuclease activity GO:0004520 9.46 ERCC4 SLX4
6 DNA-dependent ATPase activity GO:0008094 9.43 RAD51 RAD51C XRCC2
7 four-way junction DNA binding GO:0000400 9.4 RAD51C XRCC2
8 crossover junction endodeoxyribonuclease activity GO:0008821 9.37 RAD51C SLX4
9 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 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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