FANCW
MCID: FNC061
MIFTS: 24

Fanconi Anemia, Complementation Group W (FANCW)

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

Aliases & Classifications for Fanconi Anemia, Complementation Group W

MalaCards integrated aliases for Fanconi Anemia, Complementation Group W:

Name: Fanconi Anemia, Complementation Group W 57 72 29 6 39
Fancw 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
one german girl has been reported (last curated november 2017)


HPO:

31
fanconi anemia, complementation group w:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Fanconi Anemia, Complementation Group W

UniProtKB/Swiss-Prot : 72 Fanconi anemia, complementation group W: A form of Fanconi anemia, 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 W, is also known as fancw. An important gene associated with Fanconi Anemia, Complementation Group W is RFWD3 (Ring Finger And WD Repeat Domain 3). Affiliated tissues include bone marrow, bone and brain, and related phenotypes are microcephaly and growth delay

More information from OMIM: 617784 PS227650

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group W

Human phenotypes related to Fanconi Anemia, Complementation Group W:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 growth delay 31 very rare (1%) HP:0001510
3 myelodysplasia 31 very rare (1%) HP:0002863
4 arnold-chiari malformation 31 very rare (1%) HP:0002308
5 hypoplasia of the radius 31 very rare (1%) HP:0002984
6 duodenal atresia 31 very rare (1%) HP:0002247
7 polysplenia 31 very rare (1%) HP:0001748
8 absent thumb 31 very rare (1%) HP:0009777
9 megakaryocyte dysplasia 31 very rare (1%) HP:0031689
10 decreased response to growth hormone stimuation test 31 very rare (1%) HP:0000824
11 abnormality of radial ray 31 very rare (1%) HP:0410049
12 intrauterine growth retardation 31 HP:0001511
13 ventriculomegaly 31 HP:0002119
14 renal hypoplasia 31 HP:0000089
15 midface retrusion 31 HP:0011800
16 abnormality of the periventricular white matter 31 HP:0002518

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
duodenal atresia

Neurologic Central Nervous System:
enlarged ventricles
normal development
normal cognition
periventricular white matter abnormalities
chiari malformation
more
Skeletal Hands:
absent thumbs

Hematology:
dysplastic bone marrow
bone marrow abnormalities
cytopenia in the bone marrow
normal peripheral values
dysmyelopoiesis
more
Laboratory Abnormalities:
patient cells show hypersensitivity to dna cross-linking agents

Growth Other:
intrauterine growth retardation
poor postnatal growth

Abdomen Spleen:
polysplenia

Head And Neck Face:
midface hypoplasia

Genitourinary Kidneys:
hypoplastic kidney

Skeletal Limbs:
radial ray abnormalities

Clinical features from OMIM®:

617784 (Updated 05-Apr-2021)

Drugs & Therapeutics for Fanconi Anemia, Complementation Group W

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

Genetic Tests for Fanconi Anemia, Complementation Group W

Genetic tests related to Fanconi Anemia, Complementation Group W:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group W 29 RFWD3

Anatomical Context for Fanconi Anemia, Complementation Group W

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

40
Bone Marrow, Bone, Brain, Kidney, Pituitary

Publications for Fanconi Anemia, Complementation Group W

Articles related to Fanconi Anemia, Complementation Group W:

# Title Authors PMID Year
1
Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia. 6 57 61
28691929 2017
2
Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia. 61
32866285 2020
3
[Genetic analysis of Japanese patients with Fanconi anemia: novel findings]. 61
31281162 2019
4
RFWD3-Mediated Ubiquitination Promotes Timely Removal of Both RPA and RAD51 from DNA Damage Sites to Facilitate Homologous Recombination. 61
28575658 2017

Variations for Fanconi Anemia, Complementation Group W

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RFWD3 NM_018124.4(RFWD3):c.204_205dup (p.Leu69fs) Duplication Pathogenic 446411 rs1205970095 GRCh37: 16:74695142-74695143
GRCh38: 16:74661244-74661245
2 RFWD3 NM_018124.4(RFWD3):c.1916T>A (p.Ile639Lys) SNV Pathogenic 446412 rs1555524842 GRCh37: 16:74662403-74662403
GRCh38: 16:74628505-74628505
3 RFWD3 NM_018124.4(RFWD3):c.1237C>T (p.Gln413Ter) SNV Pathogenic 1033470 GRCh37: 16:74670433-74670433
GRCh38: 16:74636535-74636535
4 RFWD3 NM_018124.4(RFWD3):c.1367G>C (p.Cys456Ser) SNV Uncertain significance 973889 GRCh37: 16:74670303-74670303
GRCh38: 16:74636405-74636405

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

72
# Symbol AA change Variation ID SNP ID
1 RFWD3 p.Ile639Lys VAR_078953 rs155552484

Expression for Fanconi Anemia, Complementation Group W

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

Pathways for Fanconi Anemia, Complementation Group W

GO Terms for Fanconi Anemia, Complementation Group W

Sources for Fanconi Anemia, Complementation Group W

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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