FANCW
MCID: FNC061
MIFTS: 23

Fanconi Anemia, Complementation Group W (FANCW)

Categories: Blood diseases, Bone 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 58 76 30 6 41
Fancw 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
fanconi anemia, complementation group w:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fanconi Anemia, Complementation Group W

UniProtKB/Swiss-Prot : 76 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

Description from OMIM: 617784

Related Diseases for Fanconi Anemia, Complementation Group W

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group W

Human phenotypes related to Fanconi Anemia, Complementation Group W:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 microcephaly 33 very rare (1%) HP:0000252
2 myelodysplasia 33 very rare (1%) HP:0002863
3 growth delay 33 very rare (1%) HP:0001510
4 arnold-chiari malformation 33 very rare (1%) HP:0002308
5 hypoplasia of the radius 33 very rare (1%) HP:0002984
6 duodenal atresia 33 very rare (1%) HP:0002247
7 polysplenia 33 very rare (1%) HP:0001748
8 growth hormone deficiency 33 very rare (1%) HP:0000824
9 absent thumb 33 very rare (1%) HP:0009777
10 megakaryocyte dysplasia 33 very rare (1%) HP:0031689
11 abnormality of radial ray 33 very rare (1%) HP:0410049
12 intrauterine growth retardation 33 HP:0001511
13 ventriculomegaly 33 HP:0002119
14 abnormality of the periventricular white matter 33 HP:0002518

Symptoms via clinical synopsis from OMIM:

58
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

Skeletal Limbs:
radial ray abnormalities

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

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 30 RFWD3

Anatomical Context for Fanconi Anemia, Complementation Group W

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

42
Bone, Bone Marrow, Brain, Kidney, Pituitary, Skin

Publications for Fanconi Anemia, Complementation Group W

Articles related to Fanconi Anemia, Complementation Group W:

# Title Authors Year
1
Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia. ( 28691929 )
2017

Variations for Fanconi Anemia, Complementation Group W

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

76
# Symbol AA change Variation ID SNP ID
1 RFWD3 p.Ile639Lys VAR_078953

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RFWD3 NM_018124.3(RFWD3): c.204_205dup (p.Leu69Profs) duplication Pathogenic rs1205970095 GRCh38 Chromosome 16, 74661245: 74661246
2 RFWD3 NM_018124.3(RFWD3): c.204_205dup (p.Leu69Profs) duplication Pathogenic rs1205970095 GRCh37 Chromosome 16, 74695143: 74695144
3 RFWD3 NM_018124.3(RFWD3): c.1916T> A (p.Ile639Lys) single nucleotide variant Pathogenic rs1555524842 GRCh38 Chromosome 16, 74628505: 74628505
4 RFWD3 NM_018124.3(RFWD3): c.1916T> A (p.Ile639Lys) single nucleotide variant Pathogenic rs1555524842 GRCh37 Chromosome 16, 74662403: 74662403

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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