MCID: FNC047
MIFTS: 22

Fanconi Anemia, Complementation Group Q

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

Aliases & Classifications for Fanconi Anemia, Complementation Group Q

MalaCards integrated aliases for Fanconi Anemia, Complementation Group Q:

Name: Fanconi Anemia, Complementation Group Q 57 29 6 40 73
Fancq 57 12 75
Fanconi Anemia Complementation Group Q 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated patients have been reported (last curated june 2013)
onset in infancy
variable phenotype


HPO:

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


Classifications:



External Ids:

OMIM 57 615272
Disease Ontology 12 DOID:0111093
MeSH 44 D005199
UMLS 73 C3808988

Summaries for Fanconi Anemia, Complementation Group Q

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

MalaCards based summary : Fanconi Anemia, Complementation Group Q, also known as fancq, is related to ovarian cancer and fanconi anemia, complementation group a. An important gene associated with Fanconi Anemia, Complementation Group Q is ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit). Affiliated tissues include bone and bone marrow, and related phenotypes are microcephaly and low-set ears

Disease Ontology : 12 A Fanconi anemia that has material basis in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.

OMIM : 57 Fanconi anemia (FA) is a rare genomic instability disorder characterized by bone marrow failure, congenital malformations, hypersensitivity to DNA interstrand crosslink-inducing agents, chromosome fragility, and high susceptibility to cancer (summary by Bogliolo et al., 2013). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (615272)

Related Diseases for Fanconi Anemia, Complementation Group Q

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group Q

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Head And Neck Head:
microcephaly

Abdomen Liver:
biliary atresia

Skeletal Hands:
absent thumbs

Laboratory Abnormalities:
patient cells show increased chromosome breakage

Growth Other:
growth retardation

Head And Neck Ears:
low-set ears

Abdomen Gastrointestinal:
esophageal atresia

Hematology:
bone marrow failure


Clinical features from OMIM:

615272

Human phenotypes related to Fanconi Anemia, Complementation Group Q:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 low-set ears 32 HP:0000369
3 esophageal atresia 32 HP:0002032
4 short stature 32 HP:0004322
5 bone marrow hypocellularity 32 HP:0005528
6 biliary atresia 32 HP:0005912
7 absent thumb 32 HP:0009777

Drugs & Therapeutics for Fanconi Anemia, Complementation Group Q

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

Genetic Tests for Fanconi Anemia, Complementation Group Q

Genetic tests related to Fanconi Anemia, Complementation Group Q:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group Q 29 ERCC4

Anatomical Context for Fanconi Anemia, Complementation Group Q

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

41
Bone, Bone Marrow

Publications for Fanconi Anemia, Complementation Group Q

Variations for Fanconi Anemia, Complementation Group Q

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

75
# Symbol AA change Variation ID SNP ID
1 ERCC4 p.Leu230Pro VAR_070086 rs397509402
2 ERCC4 p.Arg689Ser VAR_070089 rs149364215
3 ERCC4 p.Ser786Phe VAR_072087

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

6
(show top 50) (show all 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC4 NM_005236.2(ERCC4): c.1484_1488delCTCAA (p.Thr495Asnfs) deletion Pathogenic rs397509400 GRCh37 Chromosome 16, 14029273: 14029277
2 ERCC4 NM_005236.2(ERCC4): c.1484_1488delCTCAA (p.Thr495Asnfs) deletion Pathogenic rs397509400 GRCh38 Chromosome 16, 13935416: 13935420
3 ERCC4 NM_005236.2(ERCC4): c.2065C> A (p.Arg689Ser) single nucleotide variant Pathogenic rs149364215 GRCh37 Chromosome 16, 14041518: 14041518
4 ERCC4 NM_005236.2(ERCC4): c.2065C> A (p.Arg689Ser) single nucleotide variant Pathogenic rs149364215 GRCh38 Chromosome 16, 13947661: 13947661
5 ERCC4 NM_005236.2(ERCC4): c.2371_2398dup28 (p.Ile800Thrfs) duplication Pathogenic rs397509401 GRCh37 Chromosome 16, 14041824: 14041851
6 ERCC4 NM_005236.2(ERCC4): c.2371_2398dup28 (p.Ile800Thrfs) duplication Pathogenic rs397509401 GRCh38 Chromosome 16, 13947967: 13947994
7 ERCC4 NM_005236.2(ERCC4): c.689T> C (p.Leu230Pro) single nucleotide variant Pathogenic rs397509402 GRCh37 Chromosome 16, 14021989: 14021989
8 ERCC4 NM_005236.2(ERCC4): c.689T> C (p.Leu230Pro) single nucleotide variant Pathogenic rs397509402 GRCh38 Chromosome 16, 13928132: 13928132
9 ERCC4 NM_005236.2(ERCC4): c.33C> T (p.Ala11=) single nucleotide variant Benign rs3136042 GRCh38 Chromosome 16, 13920198: 13920198
10 ERCC4 NM_005236.2(ERCC4): c.33C> T (p.Ala11=) single nucleotide variant Benign rs3136042 GRCh37 Chromosome 16, 14014055: 14014055
11 ERCC4 NM_005236.2(ERCC4): c.252C> T (p.Leu84=) single nucleotide variant Benign/Likely benign rs3136056 GRCh37 Chromosome 16, 14015932: 14015932
12 ERCC4 NM_005236.2(ERCC4): c.252C> T (p.Leu84=) single nucleotide variant Benign/Likely benign rs3136056 GRCh38 Chromosome 16, 13922075: 13922075
13 ERCC4 NM_005236.2(ERCC4): c.503C> G (p.Ala168Gly) single nucleotide variant Uncertain significance rs2020961 GRCh37 Chromosome 16, 14020532: 14020532
14 ERCC4 NM_005236.2(ERCC4): c.503C> G (p.Ala168Gly) single nucleotide variant Uncertain significance rs2020961 GRCh38 Chromosome 16, 13926675: 13926675
15 ERCC4 NM_005236.2(ERCC4): c.2463A> G (p.Pro821=) single nucleotide variant Conflicting interpretations of pathogenicity rs2020953 GRCh37 Chromosome 16, 14041916: 14041916
16 ERCC4 NM_005236.2(ERCC4): c.2463A> G (p.Pro821=) single nucleotide variant Conflicting interpretations of pathogenicity rs2020953 GRCh38 Chromosome 16, 13948059: 13948059
17 ERCC4 NM_005236.2(ERCC4): c.2655G> A (p.Thr885=) single nucleotide variant Benign/Likely benign rs16963255 GRCh38 Chromosome 16, 13948251: 13948251
18 ERCC4 NM_005236.2(ERCC4): c.2655G> A (p.Thr885=) single nucleotide variant Benign/Likely benign rs16963255 GRCh37 Chromosome 16, 14042108: 14042108
19 ERCC4 NM_005236.2(ERCC4): c.2724C> T (p.Val908=) single nucleotide variant Conflicting interpretations of pathogenicity rs3136225 GRCh38 Chromosome 16, 13948320: 13948320
20 ERCC4 NM_005236.2(ERCC4): c.2724C> T (p.Val908=) single nucleotide variant Conflicting interpretations of pathogenicity rs3136225 GRCh37 Chromosome 16, 14042177: 14042177
21 ERCC4 NM_005236.2(ERCC4): c.1284G> A (p.Ala428=) single nucleotide variant Uncertain significance rs3136151 GRCh38 Chromosome 16, 13935216: 13935216
22 ERCC4 NM_005236.2(ERCC4): c.1284G> A (p.Ala428=) single nucleotide variant Uncertain significance rs3136151 GRCh37 Chromosome 16, 14029073: 14029073
23 ERCC4 NM_005236.2(ERCC4): c.1884A> G (p.Glu628=) single nucleotide variant Benign/Likely benign rs2020958 GRCh37 Chromosome 16, 14031695: 14031695
24 ERCC4 NM_005236.2(ERCC4): c.1884A> G (p.Glu628=) single nucleotide variant Benign/Likely benign rs2020958 GRCh38 Chromosome 16, 13937838: 13937838
25 ERCC4 NM_005236.2(ERCC4): c.389-5C> T single nucleotide variant Benign rs377224276 GRCh38 Chromosome 16, 13926556: 13926556
26 ERCC4 NM_005236.2(ERCC4): c.389-5C> T single nucleotide variant Benign rs377224276 GRCh37 Chromosome 16, 14020413: 14020413
27 ERCC4 NM_005236.2(ERCC4): c.718C> T (p.Leu240=) single nucleotide variant Likely benign rs746904084 GRCh38 Chromosome 16, 13928161: 13928161
28 ERCC4 NM_005236.2(ERCC4): c.718C> T (p.Leu240=) single nucleotide variant Likely benign rs746904084 GRCh37 Chromosome 16, 14022018: 14022018
29 ERCC4 NM_005236.2(ERCC4): c.974-7_974-6invGT inversion Benign GRCh38 Chromosome 16, 13932150: 13932151
30 ERCC4 NM_005236.2(ERCC4): c.974-7_974-6invGT inversion Benign GRCh37 Chromosome 16, 14026007: 14026008
31 ERCC4 NM_005236.2(ERCC4): c.1446A> G (p.Glu482=) single nucleotide variant Benign rs114077770 GRCh38 Chromosome 16, 13935378: 13935378
32 ERCC4 NM_005236.2(ERCC4): c.1446A> G (p.Glu482=) single nucleotide variant Benign rs114077770 GRCh37 Chromosome 16, 14029235: 14029235
33 ERCC4 NM_005236.2(ERCC4): c.241G> A (p.Val81Ile) single nucleotide variant Uncertain significance rs55761944 GRCh38 Chromosome 16, 13922064: 13922064
34 ERCC4 NM_005236.2(ERCC4): c.241G> A (p.Val81Ile) single nucleotide variant Uncertain significance rs55761944 GRCh37 Chromosome 16, 14015921: 14015921
35 ERCC4 NM_005236.2(ERCC4): c.1677T> C (p.Gly559=) single nucleotide variant Likely benign rs776049363 GRCh38 Chromosome 16, 13935609: 13935609
36 ERCC4 NM_005236.2(ERCC4): c.1677T> C (p.Gly559=) single nucleotide variant Likely benign rs776049363 GRCh37 Chromosome 16, 14029466: 14029466
37 ERCC4 NM_005236.2(ERCC4): c.41C> T (p.Pro14Leu) single nucleotide variant Uncertain significance rs754622238 GRCh37 Chromosome 16, 14014063: 14014063
38 ERCC4 NM_005236.2(ERCC4): c.41C> T (p.Pro14Leu) single nucleotide variant Uncertain significance rs754622238 GRCh38 Chromosome 16, 13920206: 13920206
39 ERCC4 NM_005236.2(ERCC4): c.889T> A (p.Tyr297Asn) single nucleotide variant Uncertain significance rs778480216 GRCh37 Chromosome 16, 14024663: 14024663
40 ERCC4 NM_005236.2(ERCC4): c.889T> A (p.Tyr297Asn) single nucleotide variant Uncertain significance rs778480216 GRCh38 Chromosome 16, 13930806: 13930806
41 ERCC4 NM_005236.2(ERCC4): c.1212A> G (p.Pro404=) single nucleotide variant Uncertain significance rs752193295 GRCh37 Chromosome 16, 14028158: 14028158
42 ERCC4 NM_005236.2(ERCC4): c.1212A> G (p.Pro404=) single nucleotide variant Uncertain significance rs752193295 GRCh38 Chromosome 16, 13934301: 13934301
43 ERCC4 NM_005236.2(ERCC4): c.1899C> T (p.Leu633=) single nucleotide variant Likely benign rs954215121 GRCh37 Chromosome 16, 14031710: 14031710
44 ERCC4 NM_005236.2(ERCC4): c.1899C> T (p.Leu633=) single nucleotide variant Likely benign rs954215121 GRCh38 Chromosome 16, 13937853: 13937853
45 ERCC4 NM_005236.2(ERCC4): c.2046A> G (p.Gln682=) single nucleotide variant Likely benign rs565249189 GRCh38 Chromosome 16, 13947642: 13947642
46 ERCC4 NM_005236.2(ERCC4): c.2046A> G (p.Gln682=) single nucleotide variant Likely benign rs565249189 GRCh37 Chromosome 16, 14041499: 14041499
47 ERCC4 NM_005236.2(ERCC4): c.2427G> A (p.Thr809=) single nucleotide variant Conflicting interpretations of pathogenicity rs2020960 GRCh37 Chromosome 16, 14041880: 14041880
48 ERCC4 NM_005236.2(ERCC4): c.2427G> A (p.Thr809=) single nucleotide variant Conflicting interpretations of pathogenicity rs2020960 GRCh38 Chromosome 16, 13948023: 13948023
49 ERCC4 NM_005236.2(ERCC4): c.228G> A (p.Leu76=) single nucleotide variant Likely benign rs61760162 GRCh37 Chromosome 16, 14015908: 14015908
50 ERCC4 NM_005236.2(ERCC4): c.228G> A (p.Leu76=) single nucleotide variant Likely benign rs61760162 GRCh38 Chromosome 16, 13922051: 13922051

Expression for Fanconi Anemia, Complementation Group Q

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Pathways for Fanconi Anemia, Complementation Group Q

GO Terms for Fanconi Anemia, Complementation Group Q

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