FWS
MCID: FRS010
MIFTS: 16

Forsythe-Wakeling Syndrome (FWS)

Categories: Blood diseases, Nephrological diseases

Aliases & Classifications for Forsythe-Wakeling Syndrome

MalaCards integrated aliases for Forsythe-Wakeling Syndrome:

Name: Forsythe-Wakeling Syndrome 57 13 70
Microcephaly and Growth Retardation with Childhood-Onset Nephrotic Syndrome and Thrombocytopenia 57
Fws 57

Characteristics:

OMIM®:

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

Miscellaneous:
one family has been reported (as of october 2010)
onset of dysmorphic features and developmental delay in infancy
onset of nephrotic syndrome and thrombocytopenia in mid-childhood


HPO:

31
forsythe-wakeling syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Forsythe-Wakeling Syndrome

MalaCards based summary : Forsythe-Wakeling Syndrome, is also known as microcephaly and growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia. An important gene associated with Forsythe-Wakeling Syndrome is FWS (Forsythe-Wakeling Syndrome). Affiliated tissues include eye and bone, and related phenotypes are frontal bossing and global developmental delay

More information from OMIM: 613606

Related Diseases for Forsythe-Wakeling Syndrome

Symptoms & Phenotypes for Forsythe-Wakeling Syndrome

Human phenotypes related to Forsythe-Wakeling Syndrome:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 HP:0002007
2 global developmental delay 31 HP:0001263
3 delayed skeletal maturation 31 HP:0002750
4 macrotia 31 HP:0000400
5 delayed speech and language development 31 HP:0000750
6 microcephaly 31 HP:0000252
7 short stature 31 HP:0004322
8 osteoporosis 31 HP:0000939
9 low-set ears 31 HP:0000369
10 thrombocytopenia 31 HP:0001873
11 nephrotic syndrome 31 HP:0000100
12 deeply set eye 31 HP:0000490
13 prominent nasal bridge 31 HP:0000426
14 decreased body weight 31 HP:0004325

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
frontal bossing

Head And Neck Head:
microcephaly

Skeletal:
osteoporosis
delayed bone age

Hematology:
thrombocytopenia

Growth Weight:
low weight

Head And Neck Eyes:
sunken eyes

Skin Nails Hair Skin:
keratinized, purple, nodular skin lesions (in 2 of 4 patients)

Neurologic Central Nervous System:
global developmental delay
speech delay

Growth Height:
short stature

Head And Neck Ears:
low-set ears
large ears

Head And Neck Nose:
high nasal bridge

Growth Other:
poor growth

Genitourinary Kidneys:
nephrotic syndrome, steroid-nonresponsive

Laboratory Abnormalities:
intermediate level of cellular sensitivity to uv light

Clinical features from OMIM®:

613606 (Updated 05-Apr-2021)

Drugs & Therapeutics for Forsythe-Wakeling Syndrome

Search Clinical Trials , NIH Clinical Center for Forsythe-Wakeling Syndrome

Genetic Tests for Forsythe-Wakeling Syndrome

Anatomical Context for Forsythe-Wakeling Syndrome

MalaCards organs/tissues related to Forsythe-Wakeling Syndrome:

40
Eye, Bone

Publications for Forsythe-Wakeling Syndrome

Articles related to Forsythe-Wakeling Syndrome:

# Title Authors PMID Year
1
A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome. 57
19760648 2009

Variations for Forsythe-Wakeling Syndrome

Expression for Forsythe-Wakeling Syndrome

Search GEO for disease gene expression data for Forsythe-Wakeling Syndrome.

Pathways for Forsythe-Wakeling Syndrome

GO Terms for Forsythe-Wakeling Syndrome

Sources for Forsythe-Wakeling Syndrome

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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