FANCW
MCID: FNC061
MIFTS: 25

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 56 73 29 6 39
Fancw 56 73

Characteristics:

OMIM:

56
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 : 73 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, bone marrow and brain, and related phenotypes are microcephaly and myelodysplasia

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 myelodysplasia 31 very rare (1%) HP:0002863
3 growth delay 31 very rare (1%) HP:0001510
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 growth hormone deficiency 31 very rare (1%) HP:0000824
10 megakaryocyte dysplasia 31 very rare (1%) HP:0031689
11 abnormality of radial ray 31 very rare (1%) HP:0410049
12 intrauterine growth retardation 31 HP:0001511
13 midface retrusion 31 HP:0011800
14 ventriculomegaly 31 HP:0002119
15 renal hypoplasia 31 HP:0000089
16 abnormality of the periventricular white matter 31 HP:0002518

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
intrauterine growth retardation
poor postnatal growth

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

Skeletal Limbs:
radial ray abnormalities

Laboratory Abnormalities:
patient cells show hypersensitivity to dna cross-linking agents

Head And Neck Head:
microcephaly

Abdomen Spleen:
polysplenia

Head And Neck Face:
midface hypoplasia

Genitourinary Kidneys:
hypoplastic kidney

Hematology:
bone marrow abnormalities
cytopenia in the bone marrow
normal peripheral values
dysplastic bone marrow
dysmyelopoiesis
more

Clinical features from OMIM:

617784

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, Bone Marrow, 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. 61 6 56
28691929 2017
2
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
3
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
4
Fanconi Anemia 6
20301575 2002
5
[Genetic analysis of Japanese patients with Fanconi anemia: novel findings]. 61
31281162 2019
6
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 GRCh37 Pos GRCh38 Pos
1 RFWD3 NM_018124.4(RFWD3):c.204_205dup (p.Leu69fs)duplication Pathogenic 446411 rs1205970095 16:74695143-74695144 16:74661245-74661246
2 RFWD3 NM_018124.4(RFWD3):c.1916T>A (p.Ile639Lys)SNV Pathogenic 446412 rs1555524842 16:74662403-74662403 16:74628505-74628505

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

73
# 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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