MCID: FNC061
MIFTS: 21

Fanconi Anemia, Complementation Group W

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal diseases, Blood 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 75 6 40
Fancw 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Fanconi Anemia, Complementation Group W

UniProtKB/Swiss-Prot : 75 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 pituitary, and related phenotypes are microcephaly and growth hormone deficiency

Description from OMIM: 617784

Related Diseases for Fanconi Anemia, Complementation Group W

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group W

Symptoms via clinical synopsis from OMIM:

57
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

AbdomenSpleen:
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

Human phenotypes related to Fanconi Anemia, Complementation Group W:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 very rare (1%) HP:0000252
2 growth hormone deficiency 32 very rare (1%) HP:0000824
3 growth delay 32 very rare (1%) HP:0001510
4 polysplenia 32 very rare (1%) HP:0001748
5 duodenal atresia 32 very rare (1%) HP:0002247
6 arnold-chiari malformation 32 very rare (1%) HP:0002308
7 myelodysplasia 32 very rare (1%) HP:0002863
8 hypoplasia of the radius 32 very rare (1%) HP:0002984
9 absent thumb 32 very rare (1%) HP:0009777
10 megakaryocyte dysplasia 32 very rare (1%) HP:0031689
11 abnormality of radial ray 32 very rare (1%) HP:0410049

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

Anatomical Context for Fanconi Anemia, Complementation Group W

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

41
Bone, Bone Marrow, Pituitary, Brain, Kidney

Publications for Fanconi Anemia, Complementation Group W

Variations for Fanconi Anemia, Complementation Group W

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 GRCh38 Chromosome 16, 74661245: 74661246
2 RFWD3 NM_018124.3(RFWD3): c.204_205dup (p.Leu69Profs) duplication Pathogenic GRCh37 Chromosome 16, 74695143: 74695144
3 RFWD3 NM_018124.3(RFWD3): c.1916T> A (p.Ile639Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 74628505: 74628505
4 RFWD3 NM_018124.3(RFWD3): c.1916T> A (p.Ile639Lys) single nucleotide variant Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....