MCID: FNC028
MIFTS: 29

Fanconi Anemia, Complementation Group L

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

Aliases & Classifications for Fanconi Anemia, Complementation Group L

MalaCards integrated aliases for Fanconi Anemia, Complementation Group L:

Name: Fanconi Anemia, Complementation Group L 57 29 13 6 40 73
Fancl 57 12 75
Fanconi Anemia Complementation Group L 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
four unrelated patients have been reported (last curated september 2015)
two unrelated patients had multiple congenital anomalies and died in early infancy


HPO:

32
fanconi anemia, complementation group l:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fanconi Anemia, Complementation Group L

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. (614083)

MalaCards based summary : Fanconi Anemia, Complementation Group L, also known as fancl, is related to fanconi anemia, complementation group a and squamous cell carcinoma, head and neck. An important gene associated with Fanconi Anemia, Complementation Group L is FANCL (FA Complementation Group L). Affiliated tissues include bone and bone marrow, and related phenotypes are hypertelorism and short neck

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16.

UniProtKB/Swiss-Prot : 75 Fanconi anemia complementation group L: 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 L

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



Diseases related to Fanconi Anemia, Complementation Group L

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group L

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
microphthalmia (in some patients)
hypertelorism (in some patients)

Head And Neck Neck:
short neck (in some patients)

Laboratory Abnormalities:
increased chromosomal breakage

Head And Neck Face:
dysmorphic facial features (in some patients)

Respiratory Airways:
tracheoesophageal fistula (in some patients)

Head And Neck Ears:
microtia (in some patients)

Head And Neck Nose:
depressed nasal root (in some patients)
broad nasal root (in some patients)

Genitourinary Kidneys:
renal hypoplasia (in some patients)

Skeletal Limbs:
radial ray defects (in some patients)

Head And Neck Mouth:
cleft palate (in some patients)

Hematology:
bone marrow failure (in some patients)

Neurologic Central Nervous System:
hydrocephalus (in some patients)
developmental delay (in some patients)

Genitourinary External Genitalia Male:
micropenis (in some patients)

Abdomen Gastrointestinal:
esophageal atresia (in some patients)
anal atresia (in some patients)

Growth Other:
intrauterine growth retardation (in some patients)

Cardiovascular Heart:
cardiac malformations (in some patients)

Skeletal Spine:
vertebral abnormalities (in some patients)

Skeletal Hands:
absent thumbs (in some patients)


Clinical features from OMIM:

614083

Human phenotypes related to Fanconi Anemia, Complementation Group L:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 occasional (7.5%) HP:0000316
2 short neck 32 occasional (7.5%) HP:0000470
3 hydrocephalus 32 occasional (7.5%) HP:0000238
4 global developmental delay 32 HP:0001263
5 depressed nasal bridge 32 occasional (7.5%) HP:0005280
6 wide nasal bridge 32 occasional (7.5%) HP:0000431
7 abnormal facial shape 32 occasional (7.5%) HP:0001999
8 microtia 32 occasional (7.5%) HP:0008551
9 anemia 32 HP:0001903
10 cleft palate 32 occasional (7.5%) HP:0000175
11 bone marrow hypocellularity 32 occasional (7.5%) HP:0005528
12 intrauterine growth retardation 32 occasional (7.5%) HP:0001511
13 microphthalmia 32 occasional (7.5%) HP:0000568
14 anal atresia 32 occasional (7.5%) HP:0002023
15 renal hypoplasia 32 occasional (7.5%) HP:0000089
16 tracheoesophageal fistula 32 occasional (7.5%) HP:0002575
17 esophageal atresia 32 occasional (7.5%) HP:0002032
18 micropenis 32 occasional (7.5%) HP:0000054
19 cafe-au-lait spot 32 HP:0000957
20 absent thumb 32 occasional (7.5%) HP:0009777
21 chromosome breakage 32 HP:0040012

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 8.62 FANCL VRK2

Drugs & Therapeutics for Fanconi Anemia, Complementation Group L

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

Genetic Tests for Fanconi Anemia, Complementation Group L

Genetic tests related to Fanconi Anemia, Complementation Group L:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group L 29 FANCL

Anatomical Context for Fanconi Anemia, Complementation Group L

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

41
Bone, Bone Marrow

Publications for Fanconi Anemia, Complementation Group L

Variations for Fanconi Anemia, Complementation Group L

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

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCL NM_018062.3(FANCL): c.822-15_822-9delins177 indel Pathogenic GRCh37 Chromosome 2, 58390091: 58390097
2 FANCL NM_018062.3(FANCL): c.822-15_822-9delins177 indel Pathogenic GRCh38 Chromosome 2, 58162956: 58162962
3 FANCL FANCL, 3-BP DEL, 1007TAT deletion Pathogenic
4 FANCL FANCL, 4-BP DUP, 1095AATT duplication Pathogenic
5 FANCL NM_001114636.1(FANCL): c.268delC (p.Leu90Phefs) deletion Pathogenic rs869320684 GRCh37 Chromosome 2, 58453868: 58453868
6 FANCL NM_001114636.1(FANCL): c.268delC (p.Leu90Phefs) deletion Pathogenic rs869320684 GRCh38 Chromosome 2, 58226733: 58226733
7 FANCL NM_001114636.1(FANCL): c.430delT (p.Ser144Leufs) deletion Pathogenic rs869320685 GRCh38 Chromosome 2, 58204171: 58204171
8 FANCL NM_001114636.1(FANCL): c.430delT (p.Ser144Leufs) deletion Pathogenic rs869320685 GRCh37 Chromosome 2, 58431306: 58431306
9 FANCL NM_001114636.1(FANCL): c.1111_1114dupATTA (p.Thr372Asnfs) duplication Conflicting interpretations of pathogenicity rs759217526 GRCh37 Chromosome 2, 58386929: 58386932
10 FANCL NM_001114636.1(FANCL): c.1111_1114dupATTA (p.Thr372Asnfs) duplication Conflicting interpretations of pathogenicity rs759217526 GRCh38 Chromosome 2, 58159794: 58159797
11 FANCL NM_018062.3(FANCL): c.1007_1009delTAT (p.Ile336_Cys337delinsSer) deletion Conflicting interpretations of pathogenicity rs747253294 GRCh37 Chromosome 2, 58388668: 58388670
12 FANCL NM_018062.3(FANCL): c.1007_1009delTAT (p.Ile336_Cys337delinsSer) deletion Conflicting interpretations of pathogenicity rs747253294 GRCh38 Chromosome 2, 58161533: 58161535

Expression for Fanconi Anemia, Complementation Group L

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

Pathways for Fanconi Anemia, Complementation Group L

GO Terms for Fanconi Anemia, Complementation Group L

Sources for Fanconi Anemia, Complementation Group L

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