MCID: FNC025
MIFTS: 21

Fanconi Anemia, Complementation Group J

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

Aliases & Classifications for Fanconi Anemia, Complementation Group J

MalaCards integrated aliases for Fanconi Anemia, Complementation Group J:

Name: Fanconi Anemia, Complementation Group J 57 29 13 6 40
Fancj 57 12 75
Fanconi Anemia Complementation Group J 12 75

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 57 609054
Disease Ontology 12 DOID:0111097
MedGen 42 C1836860
MeSH 44 D005199

Summaries for Fanconi Anemia, Complementation Group J

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. (609054)

MalaCards based summary : Fanconi Anemia, Complementation Group J, also known as fancj, is related to fanconi anemia, complementation group a. An important gene associated with Fanconi Anemia, Complementation Group J is BRIP1 (BRCA1 Interacting Protein C-Terminal Helicase 1). Affiliated tissues include bone and bone marrow, and related phenotypes are microphthalmia and global developmental delay

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

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22.

Related Diseases for Fanconi Anemia, Complementation Group J

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group J

Clinical features from OMIM:

609054

Human phenotypes related to Fanconi Anemia, Complementation Group J:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 microphthalmia 32 very rare (1%) HP:0000568
2 global developmental delay 32 HP:0001263
3 intrauterine growth retardation 32 very rare (1%) HP:0001511
4 chromosomal breakage induced by crosslinking agents 32 HP:0003221
5 bone marrow hypocellularity 32 HP:0005528
6 multiple cafe-au-lait spots 32 very rare (1%) HP:0007565
7 postnatal growth retardation 32 HP:0008897
8 short thumb 32 very rare (1%) HP:0009778

Drugs & Therapeutics for Fanconi Anemia, Complementation Group J

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

Genetic Tests for Fanconi Anemia, Complementation Group J

Genetic tests related to Fanconi Anemia, Complementation Group J:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group J 29 BRIP1

Anatomical Context for Fanconi Anemia, Complementation Group J

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

41
Bone, Bone Marrow

Publications for Fanconi Anemia, Complementation Group J

Articles related to Fanconi Anemia, Complementation Group J:

# Title Authors Year
1
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. ( 16116423 )
2005

Variations for Fanconi Anemia, Complementation Group J

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

75
# Symbol AA change Variation ID SNP ID
1 BRIP1 p.Gln255His VAR_023700
2 BRIP1 p.Ala349Pro VAR_023702
3 BRIP1 p.Trp647Cys VAR_023703
4 BRIP1 p.Arg707Cys VAR_023704

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

6
(show top 50) (show all 1467)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRIP1 NM_032043.2(BRIP1): c.1045G> C (p.Ala349Pro) single nucleotide variant Likely pathogenic rs149364097 GRCh37 Chromosome 17, 59878709: 59878709
2 BRIP1 NM_032043.2(BRIP1): c.1045G> C (p.Ala349Pro) single nucleotide variant Likely pathogenic rs149364097 GRCh38 Chromosome 17, 61801348: 61801348
3 BRIP1 NM_032043.2(BRIP1): c.1126_1127delCA (p.Gln376Asnfs) deletion Pathogenic rs587780224 GRCh37 Chromosome 17, 59878627: 59878628
4 BRIP1 NM_032043.2(BRIP1): c.1126_1127delCA (p.Gln376Asnfs) deletion Pathogenic rs587780224 GRCh38 Chromosome 17, 61801266: 61801267
5 BRIP1 NM_032043.2(BRIP1): c.1372G> T (p.Glu458Ter) single nucleotide variant Pathogenic rs587780228 GRCh37 Chromosome 17, 59871059: 59871059
6 BRIP1 NM_032043.2(BRIP1): c.1372G> T (p.Glu458Ter) single nucleotide variant Pathogenic rs587780228 GRCh38 Chromosome 17, 61793698: 61793698
7 BRIP1 NM_032043.2(BRIP1): c.2038_2039dupTT (p.Leu680Phefs) duplication Pathogenic/Likely pathogenic rs587778134 GRCh37 Chromosome 17, 59853820: 59853821
8 BRIP1 NM_032043.2(BRIP1): c.2038_2039dupTT (p.Leu680Phefs) duplication Pathogenic/Likely pathogenic rs587778134 GRCh38 Chromosome 17, 61776459: 61776460
9 BRIP1 NM_032043.2(BRIP1): c.2273dupT (p.Ala759Serfs) duplication Pathogenic/Likely pathogenic rs587780236 GRCh37 Chromosome 17, 59820480: 59820480
10 BRIP1 NM_032043.2(BRIP1): c.2273dupT (p.Ala759Serfs) duplication Pathogenic/Likely pathogenic rs587780236 GRCh38 Chromosome 17, 61743119: 61743119
11 BRIP1 NM_032043.2(BRIP1): c.2492+2dupT duplication Likely pathogenic rs587780240 GRCh37 Chromosome 17, 59793310: 59793310
12 BRIP1 NM_032043.2(BRIP1): c.2492+2dupT duplication Likely pathogenic rs587780240 GRCh38 Chromosome 17, 61715949: 61715949
13 BRIP1 NM_032043.2(BRIP1): c.627+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587780833 GRCh37 Chromosome 17, 59924461: 59924461
14 BRIP1 NM_032043.2(BRIP1): c.627+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587780833 GRCh38 Chromosome 17, 61847100: 61847100
15 BRIP1 NM_032043.2(BRIP1): c.133G> T (p.Glu45Ter) single nucleotide variant Pathogenic rs587781292 GRCh37 Chromosome 17, 59937229: 59937229
16 BRIP1 NM_032043.2(BRIP1): c.133G> T (p.Glu45Ter) single nucleotide variant Pathogenic rs587781292 GRCh38 Chromosome 17, 61859868: 61859868
17 BRIP1 NM_032043.2(BRIP1): c.1871C> A (p.Ser624Ter) single nucleotide variant Pathogenic rs587781321 GRCh37 Chromosome 17, 59857686: 59857686
18 BRIP1 NM_032043.2(BRIP1): c.1871C> A (p.Ser624Ter) single nucleotide variant Pathogenic rs587781321 GRCh38 Chromosome 17, 61780325: 61780325
19 BRIP1 NM_032043.2(BRIP1): c.394dupA (p.Thr132Asnfs) duplication Pathogenic rs587781416 GRCh37 Chromosome 17, 59926603: 59926603
20 BRIP1 NM_032043.2(BRIP1): c.394dupA (p.Thr132Asnfs) duplication Pathogenic rs587781416 GRCh38 Chromosome 17, 61849242: 61849242
21 BRIP1 NM_032043.2(BRIP1): c.918+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587781655 GRCh37 Chromosome 17, 59885827: 59885827
22 BRIP1 NM_032043.2(BRIP1): c.918+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587781655 GRCh38 Chromosome 17, 61808466: 61808466
23 BRIP1 NM_032043.2(BRIP1): c.1240C> T (p.Gln414Ter) single nucleotide variant Pathogenic/Likely pathogenic rs368796923 GRCh37 Chromosome 17, 59876561: 59876561
24 BRIP1 NM_032043.2(BRIP1): c.1240C> T (p.Gln414Ter) single nucleotide variant Pathogenic/Likely pathogenic rs368796923 GRCh38 Chromosome 17, 61799200: 61799200
25 BRIP1 NM_032043.2(BRIP1): c.1853_1854insG (p.Pro619Thrfs) insertion Pathogenic/Likely pathogenic rs587781985 GRCh37 Chromosome 17, 59857703: 59857704
26 BRIP1 NM_032043.2(BRIP1): c.1853_1854insG (p.Pro619Thrfs) insertion Pathogenic/Likely pathogenic rs587781985 GRCh38 Chromosome 17, 61780342: 61780343
27 BRIP1 NM_032043.2(BRIP1): c.2400C> G (p.Tyr800Ter) single nucleotide variant Pathogenic rs574552037 GRCh37 Chromosome 17, 59793404: 59793404
28 BRIP1 NM_032043.2(BRIP1): c.2400C> G (p.Tyr800Ter) single nucleotide variant Pathogenic rs574552037 GRCh38 Chromosome 17, 61716043: 61716043
29 BRIP1 NM_032043.2(BRIP1): c.2765T> G (p.Leu922Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587782410 GRCh37 Chromosome 17, 59763337: 59763337
30 BRIP1 NM_032043.2(BRIP1): c.2765T> G (p.Leu922Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587782410 GRCh38 Chromosome 17, 61685976: 61685976
31 BRIP1 NM_032043.2(BRIP1): c.2364T> A (p.Asn788Lys) single nucleotide variant Uncertain significance rs587783045 GRCh38 Chromosome 17, 61743028: 61743028
32 BRIP1 NM_032043.2(BRIP1): c.2364T> A (p.Asn788Lys) single nucleotide variant Uncertain significance rs587783045 GRCh37 Chromosome 17, 59820389: 59820389
33 BRIP1 NM_032043.2(BRIP1): c.3730_3731delAT (p.Met1244Valfs) deletion Uncertain significance rs730881646 GRCh38 Chromosome 17, 61683315: 61683316
34 BRIP1 NM_032043.2(BRIP1): c.3730_3731delAT (p.Met1244Valfs) deletion Uncertain significance rs730881646 GRCh37 Chromosome 17, 59760676: 59760677
35 BRIP1 NM_032043.2(BRIP1): c.3559G> A (p.Ala1187Thr) single nucleotide variant Uncertain significance rs367610893 GRCh38 Chromosome 17, 61683487: 61683487
36 BRIP1 NM_032043.2(BRIP1): c.3559G> A (p.Ala1187Thr) single nucleotide variant Uncertain significance rs367610893 GRCh37 Chromosome 17, 59760848: 59760848
37 BRIP1 NM_032043.2(BRIP1): c.3196delT (p.Ser1066Hisfs) deletion Conflicting interpretations of pathogenicity rs730881645 GRCh38 Chromosome 17, 61683850: 61683850
38 BRIP1 NM_032043.2(BRIP1): c.3196delT (p.Ser1066Hisfs) deletion Conflicting interpretations of pathogenicity rs730881645 GRCh37 Chromosome 17, 59761211: 59761211
39 BRIP1 NM_032043.2(BRIP1): c.3069C> T (p.Leu1023=) single nucleotide variant Benign/Likely benign rs61754142 GRCh38 Chromosome 17, 61683977: 61683977
40 BRIP1 NM_032043.2(BRIP1): c.3069C> T (p.Leu1023=) single nucleotide variant Benign/Likely benign rs61754142 GRCh37 Chromosome 17, 59761338: 59761338
41 BRIP1 NM_032043.2(BRIP1): c.2935A> G (p.Lys979Glu) single nucleotide variant Uncertain significance rs730881627 GRCh38 Chromosome 17, 61684111: 61684111
42 BRIP1 NM_032043.2(BRIP1): c.2935A> G (p.Lys979Glu) single nucleotide variant Uncertain significance rs730881627 GRCh37 Chromosome 17, 59761472: 59761472
43 BRIP1 NM_032043.2(BRIP1): c.2390A> G (p.Lys797Arg) single nucleotide variant Uncertain significance rs730881622 GRCh38 Chromosome 17, 61716053: 61716053
44 BRIP1 NM_032043.2(BRIP1): c.2390A> G (p.Lys797Arg) single nucleotide variant Uncertain significance rs730881622 GRCh37 Chromosome 17, 59793414: 59793414
45 BRIP1 NM_032043.2(BRIP1): c.2255_2256delAA (p.Lys752Argfs) deletion Pathogenic rs730881649 GRCh38 Chromosome 17, 61744433: 61744434
46 BRIP1 NM_032043.2(BRIP1): c.2255_2256delAA (p.Lys752Argfs) deletion Pathogenic rs730881649 GRCh37 Chromosome 17, 59821794: 59821795
47 BRIP1 NM_032043.2(BRIP1): c.2232C> T (p.Asp744=) single nucleotide variant Benign/Likely benign rs374362388 GRCh38 Chromosome 17, 61744457: 61744457
48 BRIP1 NM_032043.2(BRIP1): c.2232C> T (p.Asp744=) single nucleotide variant Benign/Likely benign rs374362388 GRCh37 Chromosome 17, 59821818: 59821818
49 BRIP1 NM_032043.2(BRIP1): c.2097+8A> C single nucleotide variant Benign/Likely benign rs730881642 GRCh38 Chromosome 17, 61776393: 61776393
50 BRIP1 NM_032043.2(BRIP1): c.2097+8A> C single nucleotide variant Benign/Likely benign rs730881642 GRCh37 Chromosome 17, 59853754: 59853754

Expression for Fanconi Anemia, Complementation Group J

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Pathways for Fanconi Anemia, Complementation Group J

GO Terms for Fanconi Anemia, Complementation Group J

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