FANCI
MCID: FNC029
MIFTS: 41

Fanconi Anemia, Complementation Group I (FANCI)

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

Aliases & Classifications for Fanconi Anemia, Complementation Group I

MalaCards integrated aliases for Fanconi Anemia, Complementation Group I:

Name: Fanconi Anemia, Complementation Group I 57 29 13 6 40 73
Fanconi Anemia Complementation Group I 12 75 15
Fanci 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:



Summaries for Fanconi Anemia, Complementation Group I

OMIM : 57 Fanconi anemia (FA) 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). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (609053)

MalaCards based summary : Fanconi Anemia, Complementation Group I, also known as fanconi anemia complementation group i, is related to fanconi anemia, complementation group o and fanconi anemia, complementation group j. An important gene associated with Fanconi Anemia, Complementation Group I is FANCI (FA Complementation Group I), and among its related pathways/superpathways are Formation of HIV-1 elongation complex containing HIV-1 Tat and DNA Double-Strand Break Repair. Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are agenesis of corpus callosum and hypothyroidism

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26.

UniProtKB/Swiss-Prot : 75 Fanconi anemia complementation group I: 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.

Related Diseases for Fanconi Anemia, Complementation Group I

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 I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group o 31.4 FANCD2 FANCI
2 fanconi anemia, complementation group j 31.4 FANCD2 FANCI
3 fanconi anemia, complementation group e 31.4 FANCD2 FANCI
4 fanconi anemia, complementation group q 31.4 FANCD2 FANCI
5 fanconi anemia, complementation group r 31.3 FANCD2 FANCI
6 fanconi anemia, complementation group t 31.3 FANCD2 FANCI
7 congenital hypoplastic anemia 31.2 FANCD2 FANCI
8 fanconi anemia, complementation group a 29.6 ATM FANCD2 FANCI
9 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.1
10 fanconi anemia, complementation group n 11.1
11 mitochondrial dna depletion syndrome 4b 11.1
12 autosomal dominant progressive external ophthalmoplegia 11.1
13 cervical squamous cell carcinoma 10.8
14 hepatosplenic t-cell lymphoma 10.8
15 burns 10.0
16 pulmonary edema 10.0
17 gastrointestinal system disease 10.0
18 vater/vacterl association 9.8
19 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 9.8
20 buerger disease 9.8
21 lung cancer 9.8
22 sudden infant death syndrome 9.8
23 late-onset retinal degeneration 9.8
24 gastrointestinal stromal tumor 9.8
25 allergic rhinitis 9.8
26 legionnaire disease 9.8
27 congenital hypothyroidism 9.8
28 zollinger-ellison syndrome 9.8
29 photosensitive epilepsy 9.8
30 pollen allergy 9.8
31 thrombosis 9.8
32 legionnaires' disease 9.8
33 legionellosis 9.8
34 respiratory failure 9.8
35 disseminated intravascular coagulation 9.8
36 root resorption 9.8
37 hypothyroidism 9.8
38 vacterl association 9.8
39 epilepsy 9.8
40 malignant fibroxanthoma 9.8
41 arteriosclerosis 9.8
42 thrombophilia 9.8
43 thoracic outlet syndrome 9.8
44 malignant fibrous histiocytoma of bone 9.8
45 histiocytoma 9.8
46 fibrous histiocytoma 9.8
47 middle ear disease 9.8
48 human immunodeficiency virus infectious disease 9.8
49 gastrinoma 9.8
50 bronchitis 9.8

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



Diseases related to Fanconi Anemia, Complementation Group I

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group I

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Endocrine Features:
hypothyroidism
growth hormone deficiency
hypothyroidism, tertiary (central)

Growth Height:
short stature

Head And Neck Eyes:
myopia
optic nerve hypoplasia
microphthalmia
astigmatism
optic nerve pallor

Genitourinary Ureters:
vesicoureteral reflux

Head And Neck Face:
triangular face
fanconi facies

Head And Neck Ears:
hearing loss, conductive
right auditory canal atresia
auditory canal stenosis
abnormal ossicles

Growth Weight:
low weight

Skeletal Limbs:
short radius

Abdomen Gastrointestinal:
duodenum atresia

Neurologic Central Nervous System:
agenesis of corpus callosum
arnold-chiari malformation
absent septum pellucidum
colpocephaly
developmental delay
more
Head And Neck Head:
microcephaly

Genitourinary Kidneys:
horseshoe kidney
hypoplastic kidneys

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
patent foramen ovale

Hematology:
neutropenia

Skeletal Spine:
fused cervical vertebrae
narrow c5 vertebra

Skeletal Hands:
absent thumbs
short first metacarpal
hypoplastic thumb
dangling left thumb

Skin Nails Hair Skin:
cafe-au-lait spots

Growth Other:
intrauterine growth retardation (iugr)
small for gestation age (<10%)


Clinical features from OMIM:

609053

Human phenotypes related to Fanconi Anemia, Complementation Group I:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 hypothyroidism 32 HP:0000821
3 global developmental delay 32 HP:0001263
4 short stature 32 very rare (1%) HP:0004322
5 bone marrow hypocellularity 32 very rare (1%) HP:0005528
6 pallor 32 HP:0000980
7 intrauterine growth retardation 32 HP:0001511
8 horseshoe kidney 32 HP:0000085
9 myopia 32 HP:0000545
10 optic nerve hypoplasia 32 HP:0000609
11 microphthalmia 32 HP:0000568
12 arnold-chiari malformation 32 HP:0002308
13 conductive hearing impairment 32 HP:0000405
14 renal hypoplasia 32 HP:0000089
15 ventricular septal defect 32 HP:0001629
16 absent septum pellucidum 32 HP:0001331
17 triangular face 32 HP:0000325
18 astigmatism 32 HP:0000483
19 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
20 short 1st metacarpal 32 HP:0010034
21 abnormal renal morphology 32 occasional (7.5%) HP:0012210
22 fused cervical vertebrae 32 HP:0002949
23 patent foramen ovale 32 HP:0001655
24 growth hormone deficiency 32 HP:0000824
25 colpocephaly 32 HP:0030048
26 absent thumb 32 HP:0009777
27 chromosomal breakage induced by crosslinking agents 32 very rare (1%) HP:0003221

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

26 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.09 ATM FANCD2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.09 FANCD2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.09 ATM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.09 ATM
5 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.09 FANCD2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.09 FANCD2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.09 ATM
8 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.09 FANCD2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.09 ATM
10 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.09 ATM
11 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.09 ATM FANCD2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.09 ATM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.09 FANCD2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.09 FANCD2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.09 FANCD2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.09 FANCD2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.09 ATM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.09 ATM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.09 ATM
20 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.09 FANCD2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.09 FANCD2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.09 ATM
23 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.09 ATM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.09 ATM
25 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.09 FANCD2
26 Decreased ionizing radiation sensitivity GR00232-A-1 9.33 ATM FANCD2 FANCI
27 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.8 ATM FANCD2 FANCI

Drugs & Therapeutics for Fanconi Anemia, Complementation Group I

Search Clinical Trials , NIH Clinical Center for Fanconi Anemia, Complementation Group I

Genetic Tests for Fanconi Anemia, Complementation Group I

Genetic tests related to Fanconi Anemia, Complementation Group I:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group I 29 FANCI

Anatomical Context for Fanconi Anemia, Complementation Group I

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

41
Bone, Bone Marrow, Kidney, Skin, Pituitary, Lung, T Cells

Publications for Fanconi Anemia, Complementation Group I

Articles related to Fanconi Anemia, Complementation Group I:

# Title Authors Year
1
Identification of the Fanconi anemia complementation group I gene, FANCI. ( 17452773 )
2007

Variations for Fanconi Anemia, Complementation Group I

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

75
# Symbol AA change Variation ID SNP ID
1 FANCI p.His858Tyr VAR_032691
2 FANCI p.Arg1285Gln VAR_032692 rs121918163

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCI FANCI, 2T-C single nucleotide variant Pathogenic
2 FANCI NM_001113378.1(FANCI): c.3854G> A (p.Arg1285Gln) single nucleotide variant Pathogenic rs121918163 GRCh37 Chromosome 15, 89858550: 89858550
3 FANCI NM_001113378.1(FANCI): c.3854G> A (p.Arg1285Gln) single nucleotide variant Pathogenic rs121918163 GRCh38 Chromosome 15, 89315319: 89315319
4 FANCI NM_001113378.1(FANCI): c.3853C> T (p.Arg1285Ter) single nucleotide variant Uncertain significance rs121918164 GRCh37 Chromosome 15, 89858549: 89858549
5 FANCI NM_001113378.1(FANCI): c.3853C> T (p.Arg1285Ter) single nucleotide variant Uncertain significance rs121918164 GRCh38 Chromosome 15, 89315318: 89315318
6 FANCI FANCI, IVS31AS, A-G, -88 single nucleotide variant Pathogenic
7 FANCI NM_001113378.1(FANCI): c.2422A> T (p.Lys808Ter) single nucleotide variant Pathogenic/Likely pathogenic rs375656231 GRCh38 Chromosome 15, 89293963: 89293963
8 FANCI NM_001113378.1(FANCI): c.2422A> T (p.Lys808Ter) single nucleotide variant Pathogenic/Likely pathogenic rs375656231 GRCh37 Chromosome 15, 89837194: 89837194
9 FANCI NM_001113378.1(FANCI): c.158-2A> G single nucleotide variant Likely pathogenic rs762128147 GRCh38 Chromosome 15, 89260711: 89260711
10 FANCI NM_001113378.1(FANCI): c.158-2A> G single nucleotide variant Likely pathogenic rs762128147 GRCh37 Chromosome 15, 89803942: 89803942
11 FANCI NM_001113378.1(FANCI): c.1461T> A (p.Tyr487Ter) single nucleotide variant Pathogenic rs769248873 GRCh37 Chromosome 15, 89824480: 89824480
12 FANCI NM_001113378.1(FANCI): c.1461T> A (p.Tyr487Ter) single nucleotide variant Pathogenic rs769248873 GRCh38 Chromosome 15, 89281249: 89281249

Expression for Fanconi Anemia, Complementation Group I

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group I.

Pathways for Fanconi Anemia, Complementation Group I

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 ATM FANCD2 FANCI
2
Show member pathways
12.58 ATM FANCD2 FANCI
3
Show member pathways
12.15 ATM FANCD2 FANCI
4 11.97 ATM FANCD2
5
Show member pathways
11.85 ATM FANCD2
6 11.34 FANCD2 FANCI
7
Show member pathways
11.26 ATM FANCD2
8
Show member pathways
11.18 ATM FANCD2
9 11.06 ATM FANCD2
10 10.6 ATM FANCD2
11 10.09 ATM FANCD2

GO Terms for Fanconi Anemia, Complementation Group I

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

# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.43 ATM FANCD2 FANCI
2 interstrand cross-link repair GO:0036297 9.16 FANCD2 FANCI
3 cellular response to DNA damage stimulus GO:0006974 9.13 ATM FANCD2 FANCI
4 DNA repair GO:0006281 8.8 ATM FANCD2 FANCI

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

# Name GO ID Score Top Affiliating Genes
1 DNA polymerase binding GO:0070182 8.62 FANCD2 FANCI

Sources for Fanconi Anemia, Complementation Group I

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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