MCID: FNC027
MIFTS: 68

Fanconi Anemia, Complementation Group a malady

Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal diseases, Blood diseases, Cancer diseases categories

Summaries for Fanconi Anemia, Complementation Group a

About this section


OMIM:45 Fanconi anemia is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic... (227650) more...

MalaCards based summary: Fanconi Anemia, Complementation Group a, also known as fanconi anemia, is related to breast cancer and ataxia-telangiectasia, and has symptoms including hypopigmented skin patches, thrombocytopenia and leukopenia. An important gene associated with Fanconi Anemia, Complementation Group a is FANCA (Fanconi anemia, complementation group A), and among its related pathways are Homologous recombination and Homologous Recombination Repair. The compounds psoralen and melphalan have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and skin, and related mouse phenotypes are tumorigenesis and vision/eye.

Disease Ontology:9 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.

NIH Rare Diseases:41 Fanconi anemia is 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 anemia; and a decreased amount of platelets may lead to excess bleeding. fanconi anemia can be caused by mutations in various genes; it can either be inherited in an autosomal recessive or x-linked recessive fashion. last updated: 1/4/2012

Genetics Home Reference:21 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.

GeneReviews summary for fa

Aliases & Classifications for Fanconi Anemia, Complementation Group a

About this section
Sources:
45OMIM, 10diseasecard, 22GTR, 30LifeMap Discovery®, 60UMLS, 9Disease Ontology, 41NIH Rare Diseases, 63Wikipedia, 19GeneReviews, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 11DISEASES, 43Novoseek, 27ICD9CM, 33MeSH, 55SNOMED-CT, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Fanconi Anemia, Complementation Group a, Aliases & Descriptions:

Name: Fanconi Anemia, Complementation Group a 45 10 22 30 60
Fanconi Anemia 9 63 19 41 20 21 47 60
Fanconi Pancytopenia 9 19 41 21 47
Fanconi's Anemia 30 9 41
 
Fanconis Anemia 11 43 22
Fanconi Panmyelopathy 9 21
Fa 63 21
Fanconi Hypoplastic Anemia 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
fanconi anemia:
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood


External Ids:

OMIM45 227650
Disease Ontology9 DOID:13636
ICD9CM27 284.0
MeSH33 D005199
NCIt38 C62505
SNOMED-CT55 30575002
Orphanet47 84
MESH via Orphanet34 D005199
ICD10 via Orphanet26 D61.0
UMLS via Orphanet61 C0015625

Related Diseases for Fanconi Anemia, Complementation Group a

About this section

Diseases in the Fanconi Anemia, Complementation Group M family:

Fanconi Anemia, Complementation Group L Fanconi Anemia, Complementation Group I
Fanconi Anemia, Complementation Group P Fanconi Anemia, Complementation Group Q
Fanconi Anemia, Complementation Group N fanconi anemia, complementation group a
Fanconi Anemia, Complementation Group J Fanconi Anemia, Complementation Group O

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

(show top 50)    (show all 466)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer30.9BRIP1, BRCA2
2ataxia-telangiectasia30.2BRCA2, FANCC, FANCD2, CASP3
3pancreatic cancer30.1FANCG, CASP3, FANCC, BRCA2
4aplastic anemia30.0PALB2, FANCL, FANCG, BRCA2
5leukemia29.7BRCA2, FANCC, FANCF, FANCD2, FANCB, PSAP
6tongue squamous cell carcinoma29.4ERCC4, CASP3, FANCA, FANCG, FANCD2, FANCC
7prostatitis10.7
8autoimmune lymphoproliferative syndrome10.7
9endotheliitis10.7
10fanconi anemia, complementation group c10.6
11adenocarcinoma10.6
12fanconi anemia, complementation group f10.6
13prostate cancer10.6
14lung cancer10.6
15lupus erythematosus10.6
16systemic lupus erythematosus10.6
17esophagitis10.5
18hepatitis c10.5
19fanconi anemia, complementation group e10.5
20fanconi anemia, complementation group m10.5
21arthritis10.5
22rheumatoid arthritis10.5
23renal cell carcinoma10.5
24fanconi anemia, complementation group d210.5
25fanconi anemia, complementation group i10.5
26fanconi anemia, complementation group b10.5
27fetal alcohol syndrome10.5
28neuronitis10.5
29fanconi anemia, complementation group l10.5
30fanconi anemia, complementation group g10.5
31fanconi anemia, complementation group d110.5
32fanconi anemia, complementation group p10.5
33fanconi anemia, complementation group n10.5
34fanconi anemia, complementation group j10.5
35obesity10.5
36silicosis10.5
37bloom syndrome10.4
38fanconi anemia, complementation group q10.4
39fanconi anemia, complementation group o10.4
40autoimmune thyroiditis10.4
41hiv-110.4
42hepatitis b10.4
43wilms tumor10.4
44ataxia10.4
45t-cell leukemia10.4
46b-cell lymphomas10.4
47cholangiocarcinoma10.4
48viral hepatitis10.4
49childhood type dermatomyositis10.4
50dyskeratosis congenita10.4

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group a:



Diseases related to fanconi anemia, complementation group a

Symptoms for Fanconi Anemia, Complementation Group a

About this section

Symptoms by clinical synopsis from OMIM:

227650

Clinical features from OMIM:

227650

Symptoms:

 47 (show all 101)
  • upper limb segmental anomalies
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • thumb anomalies (excluding hypoplasia)
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • irregular/patchy skin hypopigmentation
  • irregular/in bands/reticular skin hyperpigmentation
  • anomalies of the hematological system
  • bone marrow failure/pancytopenia
  • anaemia
  • leukopenia/hypoleukocytosis
  • thrombocytopenia/thrombopenia
  • autosomal recessive inheritance
  • chromosome breakage
  • short stature/dwarfism/nanism
  • microcephaly
  • blepharophimosis/short palpebral fissures
  • scoliosis
  • cardiac septal defect
  • structural anomalies of the kidney and the urinary tract
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • neoplasms/tumors
  • dolichocephaly/scaphocephaly
  • frontal bossing/prominent forehead
  • sloping forehead
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • hypertelorism
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • proptosis/exophthalmos
  • micrognathia/retrognathia/micrognathism/retrognathism
  • anomalies of eyes and vision
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • aniridia/iris hypoplasia
  • cataract/lens opacification
  • visual loss/blindness/amblyopia
  • astigmatism
  • strabismus/squint
  • nystagmus
  • anomalies of eyelids, eyelashes and lacrimal system
  • ptosis
  • epicanthic folds
  • choanal atresia
  • high vaulted/narrow palate
  • hypoplastic/aplastic uvula
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anomalies of ear and hearing
  • external ear anomalies
  • hearing loss/hypoacusia/deafness
  • umbilical hernia
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • irregular length/shape of fingers
  • syndactyly of fingers/interdigital palm
  • clinodactyly of fifth finger
  • fingerlike/triphalangeal thumb
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • foot anomalies
  • flat foot
  • syndactyly of toes
  • terminal broadening/clubbing of toes
  • cafe-au-lait spot
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • duodenal atresia/stenosis/megaduodenum
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • meckel diverticulum
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • structural anomalies of the liver and the biliary tract
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • tetralogy of fallot/trilogy of fallot
  • atrial septal defect/interauricular communication
  • patent ductus arteriosus
  • cardiomyopathy/hypertrophic/dilated
  • carotid artery anomalies
  • arteriovenous malformations/vascular malformations (excluding port-wine stains)
  • agenesis/hypoplasia/aplasia of kidneys
  • ectopic/horseshoe/fused kidneys
  • bladder and ureter anomalies
  • renal failure
  • recurrent urinary infections
  • uterine/uterus/fallopian tubes anomalies
  • hypospadias/epispadias/bent penis
  • phimosis/preputial adhesions/paraphimosis
  • testis anomalies
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • azoospermia/oligospermia/asthenospermia
  • hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies
  • late puberty/hypogonadism/hypogenitalism
  • structural anomalies of the nervous system
  • spina bifida
  • dilated cerebral ventricles without hydrocephaly
  • hydrocephaly
  • cranial nerves palsy
  • hypereflexia
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • myelodysplastic syndrome
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • stillbirth/neonatal death
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • oligoamnios
  • intrauterine growth retardation

HPO human phenotypes related to Fanconi Anemia, Complementation Group a:

(show all 110)
id Description Frequency HPO Source Accession
1 hypopigmented skin patches hallmark (90%) HP:0001053
2 thrombocytopenia hallmark (90%) HP:0001873
3 leukopenia hallmark (90%) HP:0001882
4 anemia hallmark (90%) HP:0001903
5 abnormality of chromosome stability hallmark (90%) HP:0003220
6 short stature hallmark (90%) HP:0004322
7 bone marrow hypocellularity hallmark (90%) HP:0005528
8 aplasia/hypoplasia of the radius hallmark (90%) HP:0006501
9 irregular hyperpigmentation hallmark (90%) HP:0007400
10 microcephaly typical (50%) HP:0000252
11 blepharophimosis typical (50%) HP:0000581
12 scoliosis typical (50%) HP:0002650
13 cognitive impairment typical (50%) HP:0100543
14 abnormality of female internal genitalia occasional (7.5%) HP:0000008
15 recurrent urinary tract infections occasional (7.5%) HP:0000010
16 functional abnormality of male internal genitalia occasional (7.5%) HP:0000025
17 cryptorchidism occasional (7.5%) HP:0000028
18 renal insufficiency occasional (7.5%) HP:0000083
19 cleft palate occasional (7.5%) HP:0000175
20 hydrocephalus occasional (7.5%) HP:0000238
21 dolichocephaly occasional (7.5%) HP:0000268
22 epicanthus occasional (7.5%) HP:0000286
23 hypertelorism occasional (7.5%) HP:0000316
24 facial asymmetry occasional (7.5%) HP:0000324
25 sloping forehead occasional (7.5%) HP:0000340
26 micrognathia occasional (7.5%) HP:0000347
27 hearing impairment occasional (7.5%) HP:0000365
28 choanal atresia occasional (7.5%) HP:0000453
29 astigmatism occasional (7.5%) HP:0000483
30 strabismus occasional (7.5%) HP:0000486
31 visual impairment occasional (7.5%) HP:0000505
32 ptosis occasional (7.5%) HP:0000508
33 cataract occasional (7.5%) HP:0000518
34 proptosis occasional (7.5%) HP:0000520
35 upslanted palpebral fissure occasional (7.5%) HP:0000582
36 nystagmus occasional (7.5%) HP:0000639
37 abnormality of the hypothalamus-pituitary axis occasional (7.5%) HP:0000864
38 cafe-au-lait spot occasional (7.5%) HP:0000957
39 triphalangeal thumb occasional (7.5%) HP:0001199
40 hyperreflexia occasional (7.5%) HP:0001347
41 abnormality of the liver occasional (7.5%) HP:0001392
42 intrauterine growth retardation occasional (7.5%) HP:0001511
43 umbilical hernia occasional (7.5%) HP:0001537
44 oligohydramnios occasional (7.5%) HP:0001562
45 defect in the atrial septum occasional (7.5%) HP:0001631
46 tetralogy of fallot occasional (7.5%) HP:0001636
47 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
48 patent ductus arteriosus occasional (7.5%) HP:0001643
49 abnormality of the aortic valve occasional (7.5%) HP:0001646
50 abnormality of the aorta occasional (7.5%) HP:0001679
51 pes planus occasional (7.5%) HP:0001763
52 toe syndactyly occasional (7.5%) HP:0001770
53 weight loss occasional (7.5%) HP:0001824
54 frontal bossing occasional (7.5%) HP:0002007
55 ventriculomegaly occasional (7.5%) HP:0002119
56 meckel diverticulum occasional (7.5%) HP:0002245
57 aganglionic megacolon occasional (7.5%) HP:0002251
58 spina bifida occasional (7.5%) HP:0002414
59 tracheoesophageal fistula occasional (7.5%) HP:0002575
60 abnormality of the femur occasional (7.5%) HP:0002823
61 myelodysplasia occasional (7.5%) HP:0002863
62 abnormality of the ulna occasional (7.5%) HP:0002997
63 abnormality of the hip bone occasional (7.5%) HP:0003272
64 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
65 reduced bone mineral density occasional (7.5%) HP:0004349
66 abnormality of the carotid arteries occasional (7.5%) HP:0005344
67 finger syndactyly occasional (7.5%) HP:0006101
68 cranial nerve paralysis occasional (7.5%) HP:0006824
69 aplasia/hypoplasia of the iris occasional (7.5%) HP:0008053
70 external ear malformation occasional (7.5%) HP:0008572
71 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
72 aplasia/hypoplasia of the uvula occasional (7.5%) HP:0010293
73 arteriovenous malformation occasional (7.5%) HP:0100026
74 abnormal localization of kidney occasional (7.5%) HP:0100542
75 abnormality of the preputium occasional (7.5%) HP:0100587
76 urogenital fistula occasional (7.5%) HP:0100589
77 displacement of the external urethral meatus occasional (7.5%) HP:0100627
78 clubbing of toes occasional (7.5%) HP:0100760
79 duodenal stenosis occasional (7.5%) HP:0100867
80 cryptorchidism HP:0000028
81 duplicated collecting system HP:0000081
82 horseshoe kidney HP:0000085
83 ectopic kidney HP:0000086
84 renal agenesis HP:0000104
85 microcephaly HP:0000252
86 hearing impairment HP:0000365
87 strabismus HP:0000486
88 microphthalmos HP:0000568
89 hypergonadotropic hypogonadism HP:0000815
90 cafe-au-lait spot HP:0000957
91 bruising susceptibility HP:0000978
92 abnormality of skin pigmentation HP:0001000
93 anemic pallor HP:0001017
94 intellectual disability HP:0001249
95 small for gestational age HP:0001518
96 thrombocytopenia HP:0001873
97 neutropenia HP:0001875
98 pancytopenia HP:0001876
99 reticulocytopenia HP:0001896
100 anemia HP:0001903
101 leukemia HP:0001909
102 malformation of the heart and great vessels HP:0002564
103 deficient excision of uv-induced pyrimidine dimers in dna HP:0003213
104 prolonged g2 phase of cell cycle HP:0003214
105 chromosomal breakage induced by crosslinking agents HP:0003221
106 absent radius HP:0003974
107 short stature HP:0004322
108 absent thumb HP:0009777
109 short thumb HP:0009778
110 complete duplication of thumb phalanx HP:0009943

Drugs & Therapeutics for Fanconi Anemia, Complementation Group a

About this section

Drug clinical trials:

Search ClinicalTrials for Fanconi Anemia, Complementation Group a

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

Genetic Tests for Fanconi Anemia, Complementation Group a

About this section

Genetic tests related to Fanconi Anemia, Complementation Group a:

id Genetic test Affiliating Genes
1 Fanconi Anemia20
2 Fanconi Anemia Multi-Gene Panels20
3 Fanconi Anemia, Complementation Group a22
4 Fanconi's Anemia22

Anatomical Context for Fanconi Anemia, Complementation Group a

About this section

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

31
Bone, Bone marrow, Skin, Kidney, Testes, Liver, Hypothalamus, Pituitary, Eye, Heart, Uterus, Testis

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:
id TissueAnatomical CompartmentCell Relevance
1 BloodHematopoietic Bone MarrowHematopoietic Stem Cells Potential therapeutic candidate

Animal Models for Fanconi Anemia, Complementation Group a or affiliated genes

About this section

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

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.9FANCA, FANCM, FANCD2, PALB2, BRCA2
2MP:00053918.1FANCI, FANCA, PSAP, CASP3, SLX4, FANCD2
3MP:00053907.6PSAP, CASP3, FANCA, FANCC, BRCA2, SLX4
4MP:00053877.3BRCA2, SLX4, CASP3, SNX5, PSAP, FANCC
5MP:00053797.0BRCA2, FANCC, FANCD2, FANCG, FANCL, FANCM
6MP:00053897.0SLX4, BRCA2, FANCC, FANCD2, FANCG, FANCL
7MP:00053977.0SLX4, FANCC, FANCD2, BRCA2, FANCM, FANCA
8MP:00053846.6BRCA2, FANCM, SLX4, FANCC, FANCD2, FANCG
9MP:00053786.5ERCC4, RAD51C, CASP3, PALB2, FANCD2, FANCL
10MP:00107686.3PSAP, SNX5, SLX4, ERCC4, RAD51C, CASP3

Publications for Fanconi Anemia, Complementation Group a

About this section

Articles related to Fanconi Anemia, Complementation Group a:

(show all 15)
idTitleAuthorsYear
1
p38 mitogen-activated protein kinase inhibition enhances inA vitro erythropoiesis of Fanconi anemia, complementation group A-deficient boneA marrow cells. (25534205)
2015
2
Damage-dependent regulation of MUS81-EME1 by Fanconi anemia complementation group A protein. (24170812)
2013
3
Human Fanconi Anemia Complementation Group A Protein Stimulates the 5' Flap Endonuclease Activity of FEN1. (24349332)
2013
4
Changes in vimentin, lamin A/C and mitofilin induceA aberrant cell organization in fibroblasts from Fanconi anemia complementation group A (FA-A) patients. (23831462)
2013
5
Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A. (23791750)
2013
6
Fanconi anemia complementation group A (FANCA) protein has intrinsic affinity for nucleic acids with preference for single-stranded forms. (22194614)
2012
7
Validation of Fanconi anemia complementation Group A assignment using molecular analysis. (19367192)
2009
8
Fanconi anemia complementation group A cells are hypersensitive to chromium(VI)-induced toxicity. (12426130)
2002
9
Functional analysis of the putative peroxidase domain of FANCA, the Fanconi anemia complementation group A protein. (11161829)
2001
10
Fanconi anemia, complementation group A, cells are defective in ability to produce incisions at sites of psoralen interstrand cross-links. (10753211)
2000
11
A deficiency in a 230 kDa DNA repair protein in fanconi anemia complementation group A cells is corrected by the FANCA cDNA. (10469633)
1999
12
SNX5, a new member of the sorting nexin family, binds to the Fanconi anemia complementation group A protein. (10600472)
1999
13
Intracellular localization of the Fanconi anemia complementation group A protein. (10364463)
1999
14
The Fanconi anemia complementation group A protein contains a peroxidase domain. (9608546)
1998
15
A damage-recognition protein which binds to DNA containing interstrand cross-links is absent or defective in Fanconi anemia, complementation group A, cells. (8414972)
1993

Variations for Fanconi Anemia, Complementation Group a

About this section

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

62 (show all 29)
id Symbol AA change Variation ID SNP ID
1FANCAp.Ala181ValVAR_009639rs17232246
2FANCAp.Leu244PheVAR_009640
3FANCAp.Asp252GlyVAR_009641rs17225943
4FANCAp.Arg435CysVAR_009642
5FANCAp.His492ArgVAR_009643
6FANCAp.Leu817ProVAR_009647
7FANCAp.Leu845ProVAR_009648
8FANCAp.Arg1055LeuVAR_009649
9FANCAp.His1110ProVAR_009650
10FANCAp.Arg1117GlyVAR_009651
11FANCAp.Gln1128GluVAR_009652
12FANCAp.Thr1131AlaVAR_009653
13FANCAp.Trp1302ArgVAR_009656
14FANCAp.His1417AspVAR_009658rs17227403
15FANCAp.Asp598AsnVAR_017497
16FANCAp.Ser858ArgVAR_017498rs17233141
17FANCAp.Arg1055TrpVAR_017499
18FANCAp.Leu1082ProVAR_017500
19FANCAp.Ser1088PheVAR_017501rs17233497
20FANCAp.Phe1262LeuVAR_017502
21FANCAp.Asp1359TyrVAR_017503
22FANCAp.Met1360IleVAR_017504
23FANCAp.Pro1324LeuVAR_017505rs182657062
24FANCAp.Leu210ArgVAR_038012
25FANCAp.Leu660ProVAR_038013
26FANCAp.Tyr843AspVAR_038015
27FANCAp.Gln869ProVAR_038016
28FANCAp.Leu1249ProVAR_038019
29FANCAp.Arg1400HisVAR_038021rs149851163

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

6 (show all 73)
id Gene Variation Type Significance SNP ID Assembly Location
1FANCBFANCB, 1-BP INS, 1838TinsertionPathogenic
2FANCBFANCB, 3314-BP DELdeletionPathogenic
3FANCBFANCB, 1-BP DEL, 1650TdeletionPathogenic
4FANCBFANCB, 1-BP INS, 811TinsertionPathogenic
5FANCBFANCB, IVS7DS, G-A, +5single nucleotide variantPathogenic
6NM_001018115.1(FANCD2): c.3707G> A (p.Arg1236His)single nucleotide variantPathogenicrs121917786GRCh37Chr 3, 10131999: 10131999
7FANCD2FANCD2, 376A-GinsertionPathogenic
8FANCD2NM_001018115.1(FANCD2): c.904C> T (p.Arg302Trp)single nucleotide variantPathogenicrs121917787GRCh37Chr 3, 10084749: 10084749
9FANCD2NM_001018115.1(FANCD2): c.958C> T (p.Gln320Ter)single nucleotide variantPathogenicrs121917788GRCh37Chr 3, 10084803: 10084803
10FANCD2FANCD2, EX17 DELdeletionPathogenic
11FANCCNM_000136.2(FANCC): c.1661T> C (p.Leu554Pro)single nucleotide variantPathogenicrs104886458GRCh37Chr 9, 97864005: 97864005
12FANCCNM_000136.2(FANCC): c.1642C> T (p.Arg548Ter)single nucleotide variantPathogenicrs104886457GRCh37Chr 9, 97864024: 97864024
13FANCCFANCC, 1-BP INS, 1806AinsertionPathogenic
14FANCCNM_000136.2(FANCC): c.1487T> G (p.Leu496Arg)single nucleotide variantPathogenicrs121917785GRCh37Chr 9, 97869394: 97869394
15FANCCFANCC, IVS2DS, G-T, +1single nucleotide variantPathogenic
16FANCCFANCC, 250-BP DELdeletionPathogenic
17PALB2NM_024675.3(PALB2): c.1653T> A (p.Tyr551Ter)single nucleotide variantPathogenicrs118203997GRCh37Chr 16, 23646214: 23646214
18PALB2PALB2: c.49-?_2586+?deldeletionPathogenic
19PALB2NM_024675.3(PALB2): c.1676_1677delAAinsG (p.Gln559Argfs)indelPathogenicrs515726073GRCh38Chr 16, 23634869: 23634870
20PALB2NM_024675.3(PALB2): c.2393_2394insCT (p.Thr799Leufs)insertionPathogenicrs180177113GRCh38Chr 16, 23629760: 23629761
21PALB2NM_024675.3(PALB2): c.2521delA (p.Thr841Glnfs)deletionPathogenicrs180177116GRCh38Chr 16, 23629269: 23629269
22PALB2NM_024675.3(PALB2): c.395delT (p.Val132Alafs)deletionPathogenicrs180177085GRCh38Chr 16, 23636151: 23636151
23RAD51CNM_058216.2(RAD51C): c.1027-2A> Gsingle nucleotide variantPathogenicGRCh37Chr 17, 56811477: 56811477
24RAD51CNM_058216.2(RAD51C): c.97_98delCA (p.Gln33Aspfs)deletionPathogenicGRCh37Chr 17, 56770101: 56770102
25FANCMNM_020937.2(FANCM): c.2171C> A (p.Ser724Ter)single nucleotide variantPathogenicrs137852864GRCh37Chr 14, 45642268: 45642268
26FANCMFANCM, 2,554-BP DELdeletionPathogenic
27FANCLNM_018062.3(FANCL): c.822-15_822-9delins177indelPathogenicGRCh37Chr 2, 58390091: 58390097
28FANCLFANCL, 3-BP DEL, 1007TATdeletionPathogenic
29FANCLFANCL, 4-BP DUP, 1095AAATduplicationPathogenic
30SLX4SLX4, 1-BP DEL, 286AdeletionPathogenic
31SLX4SLX4, 1-BP DEL, 1093CdeletionPathogenic
32SLX4SLX4, IVS5DS, 1-BP DUP, T, +3duplicationPathogenic
33SLX4SLX4, IVS5DS, T-A, +2single nucleotide variantPathogenic
34SLX4SLX4, 1-BP DEL, 514CdeletionPathogenic
35SLX4SLX4, 4,890-BP DEL/2-BP INSindelPathogenic
36FANCAFANCA, 274-BP DELdeletionPathogenic
37FANCANM_000135.2(FANCA): c.1115_1118delTTGG (p.Val372Alafs)deletionPathogenicrs397507552GRCh37Chr 16, 89858442: 89858445
38FANCAFANCA, 156-BP DEL, NT1515deletionPathogenic
39FANCAFANCA, 113-BP DEL, NT938deletionPathogenic
40FANCAFANCA, 1-NT DEL, 1615GdeletionPathogenic
41FANCAFANCA, 1-NT DEL, 3559GdeletionPathogenic
42FANCAFANCA, EX12-31DELdeletionPathogenic
43FANCAFANCA, 1-BP DEL, 1609TdeletionPathogenic
44FANCANM_000135.2(FANCA): c.513G> A (p.Trp171Ter)single nucleotide variantPathogenicrs121907930GRCh37Chr 16, 89877124: 89877124
45FANCAFANCA, 5-BP DEL, NT3720deletionPathogenic
46FANCBFANCB, LEU717TERsingle nucleotide variantPathogenic
47FANCBFANCB, 2-BP DEL, 1857AGdeletionPathogenic
48NM_000135.2(FANCA): c.3788_3790delTCT (p.Phe1263del)deletionPathogenicrs397507553GRCh37Chr 16, 89807250: 89807252
49FANCGNM_004629.1(FANCG): c.1183_1192delGAGGTGTTTT (p.Glu395Trpfs)deletionPathogenicrs397507559GRCh37Chr 9, 35075703: 35075712
50ERCC4NM_005236.2(ERCC4): c.1484_1488delCTCAA (p.Thr495Asnfs)deletionPathogenicrs397509400GRCh37Chr 16, 14029273: 14029277
51ERCC4NM_005236.2(ERCC4): c.2065C> A (p.Arg689Ser)single nucleotide variantPathogenicrs149364215GRCh37Chr 16, 14041518: 14041518
52ERCC4NM_005236.2(ERCC4): c.2371_2398dup28 (p.Ile800Thrfs)duplicationPathogenicrs397509401GRCh37Chr 16, 14041851: 14041852
53ERCC4NM_005236.2(ERCC4): c.689T> C (p.Leu230Pro)single nucleotide variantPathogenicrs397509402GRCh37Chr 16, 14021989: 14021989
54FANCFFANCF, 23-BP DELdeletionPathogenic
55FANCFFANCF, 47-BP DELdeletionPathogenic
56FANCFNM_022725.3(FANCF): c.16C> T (p.Gln6Ter)single nucleotide variantPathogenicrs104894221GRCh37Chr 11, 22647341: 22647341
57FANCFFANCF, 2-BP DELdeletionPathogenic
58FANCFNM_022725.3(FANCF): c.327C> G (p.Tyr109Ter)single nucleotide variantPathogenicrs104894222GRCh37Chr 11, 22647030: 22647030
59FANCGNM_004629.1(FANCG): c.313G> T (p.Glu105Ter)single nucleotide variantPathogenicrs121434425GRCh37Chr 9, 35078335: 35078335
60FANCGFANCG, IVS13, G-C, -1single nucleotide variantPathogenic
61FANCGNM_004629.1(FANCG): c.307+1G> Csingle nucleotide variantPathogenicrs200479612GRCh37Chr 9, 35078601: 35078601
62FANCGNM_004629.1(FANCG): c.1066C> T (p.Gln356Ter)single nucleotide variantPathogenicrs121434426GRCh37Chr 9, 35076439: 35076439
63FANCGNM_004629.1(FANCG): c.925-2A> Gsingle nucleotide variantPathogenicrs397507561GRCh37Chr 9, 35076582: 35076582
64FANCGNM_004629.1(FANCG): c.1480+1G> Csingle nucleotide variantPathogenicrs149616199GRCh37Chr 9, 35075275: 35075275
65FANCGNM_004629.1(FANCG): c.1794_1803delCTGGATCCGT (p.Trp599Profs)deletionPathogenicrs397507560GRCh37Chr 9, 35074171: 35074180
66FANCGNM_004629.1(FANCG): c.637_643delTACCGCC (p.Tyr213Lysfs)deletionPathogenicGRCh37Chr 9, 35077264: 35077270
67FANCENM_021922.2(FANCE): c.355C> T (p.Gln119Ter)single nucleotide variantPathogenicrs121434505GRCh37Chr 6, 35423630: 35423630
68FANCENM_021922.2(FANCE): c.421C> T (p.Arg141Ter)single nucleotide variantPathogenicrs121434506GRCh37Chr 6, 35423696: 35423696
69FANCEFANCE, IVS5AS, G-A, -8single nucleotide variantPathogenic
70FANCIFANCI, 2T-Csingle nucleotide variantPathogenic
71FANCINM_001113378.1(FANCI): c.3854G> A (p.Arg1285Gln)single nucleotide variantPathogenicrs121918163GRCh37Chr 15, 89858550: 89858550
72FANCINM_001113378.1(FANCI): c.3853C> T (p.Arg1285Ter)single nucleotide variantPathogenicrs121918164GRCh37Chr 15, 89858549: 89858549
73FANCIFANCI, IVS31AS, A-G, -88single nucleotide variantPathogenic

Expression for genes affiliated with Fanconi Anemia, Complementation Group a

About this section
Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group a.

Pathways for genes affiliated with Fanconi Anemia, Complementation Group a

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Homologous recombination36
9.8BRCA2, RAD51C
2
Show member pathways
9.6BRIP1, BRCA2
39.1BRIP1, FANCL, FANCD2, BRCA2
48.7FANCA, FANCL, FANCG, FANCC, FANCF, FANCD2
5
Show member pathways
8.3FANCG, ERCC4, FANCA, FANCD2, FANCF, FANCC
6
Show member pathways
8.3FANCC, FANCF, FANCD2, FANCE, FANCG, FANCL
7
Show member pathways
7.1BRCA2, PALB2, FANCB, FANCC, FANCF, FANCI
8
Show member pathways
6.4BRIP1, BRCA2, PALB2, FANCB, FANCC, FANCI
96.0BRIP1, BRCA2, PALB2, FANCB, FANCC, FANCF

Compounds for genes affiliated with Fanconi Anemia, Complementation Group a

About this section

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

idCompoundScoreTop Affiliating Genes
1psoralen4310.0FANCA, ERCC4
2melphalan43 49 1211.7ERCC4, FANCD2, FANCC
3diepoxybutane439.6FANCC, FANCD2, FANCG, FANCA
4h2o2438.9CASP3, FANCA, FANCG, BRCA2
5camptothecin43 59 1210.7RAD51C, CASP3, BRCA2
6cisplatin43 49 59 1211.5BRCA2, FANCD2, FANCG, FANCA, CASP3, ERCC4
7mitomycin c438.2ERCC4, BRCA2, FANCC, FANCF, FANCD2, FANCE

GO Terms for genes affiliated with Fanconi Anemia, Complementation Group a

About this section

Cellular components related to Fanconi Anemia, Complementation Group a according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear chromosome, telomeric regionGO:000078410.1ERCC4, SLX4
2Holliday junction resolvase complexGO:004847610.0SLX4, RAD51C
3Fanconi anaemia nuclear complexGO:00432408.5FANCB, FANCC, FANCF, FANCG, FANCL, FANCM
4nucleolusGO:00057308.3FANCG, BRCA2, SLX4, FANCA, FANCM, PALB2
5nucleusGO:00056346.5CASP3, BRIP1, FANCC, SLX4, ERCC4, RAD51C
6nucleoplasmGO:00056545.9FANCF, ERCC4, RAD51C, CASP3, FANCA, FANCM

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1resolution of meiotic recombination intermediatesGO:000071210.1FANCM, ERCC4
2DNA catabolic process, endonucleolyticGO:000073710.0SLX4, ERCC4, RAD51C
3female gonad developmentGO:00085859.9BRCA2, FANCA
4gamete generationGO:00072769.9FANCD2, FANCL
5response to gamma radiationGO:00103329.8FANCD2, BRCA2
6inner cell mass cell proliferationGO:00018339.8PALB2, BRCA2
7male meiosis IGO:00071419.5BRCA2, RAD51C
8nucleotide-excision repairGO:00062899.5BRCA2, FANCC, ERCC4, SLX4
9double-strand break repair via homologous recombinationGO:00007249.3BRCA2, PALB2, RAD51C, ERCC4, SLX4
10DNA repairGO:00062816.7SLX4, BRCA2, PALB2, FANCB, FANCC, FANCF

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

idNameGO IDScoreTop Affiliating Genes
1crossover junction endodeoxyribonuclease activityGO:000882110.0SLX4, RAD51C
2enzyme activator activityGO:00080479.7SLX4, PSAP
3DNA polymerase bindingGO:00701829.6FANCD2, FANCI
4protein bindingGO:00055155.0SLX4, BRIP1, BRCA2, PALB2, FANCB, FANCC

Products for genes affiliated with Fanconi Anemia, Complementation Group a

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Fanconi Anemia, Complementation Group a

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet