MCID: FNC029
MIFTS: 24

Fanconi Anemia, Complementation Group I

Categories: Genetic diseases, Blood diseases, Rare diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal 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
Fanci 57 12 75
Fanconi Anemia Complementation Group I 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 57 609053
Disease Ontology 12 DOID:0111091
MedGen 42 C1836861
MeSH 44 D005199
SNOMED-CT via HPO 69 258211005 237836003 44513007
UMLS 73 C1836861

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 fanci, is related to hepatosplenic t-cell lymphoma and cervical squamous cell carcinoma. An important gene associated with Fanconi Anemia, Complementation Group I is FANCI (FA Complementation Group I). Affiliated tissues include bone marrow, bone and kidney, and related phenotypes are chromosomal breakage induced by crosslinking agents and short stature

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

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
# Description HPO Frequency HPO Source Accession
1 chromosomal breakage induced by crosslinking agents 32 very rare (1%) HP:0003221
2 short stature 32 very rare (1%) HP:0004322
3 bone marrow hypocellularity 32 very rare (1%) HP:0005528
4 abnormal renal morphology 32 occasional (7.5%) HP:0012210
5 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680

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 Marrow, Bone, Kidney, Pituitary

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
# 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 FANCI, IVS31AS, A-G, -88 single nucleotide variant Pathogenic
5 FANCI NM_001113378.1(FANCI): c.2422A> T (p.Lys808Ter) single nucleotide variant Pathogenic/Likely pathogenic rs375656231 GRCh38 Chromosome 15, 89293963: 89293963
6 FANCI NM_001113378.1(FANCI): c.2422A> T (p.Lys808Ter) single nucleotide variant Pathogenic/Likely pathogenic rs375656231 GRCh37 Chromosome 15, 89837194: 89837194
7 FANCI NM_001113378.1(FANCI): c.158-2A> G single nucleotide variant Likely pathogenic rs762128147 GRCh38 Chromosome 15, 89260711: 89260711
8 FANCI NM_001113378.1(FANCI): c.158-2A> G single nucleotide variant Likely pathogenic rs762128147 GRCh37 Chromosome 15, 89803942: 89803942
9 FANCI NM_001113378.1(FANCI): c.1461T> A (p.Tyr487Ter) single nucleotide variant Pathogenic rs769248873 GRCh37 Chromosome 15, 89824480: 89824480
10 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

GO Terms for Fanconi Anemia, Complementation Group I

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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