MCID: FRS010
MIFTS: 19

Forsythe-Wakeling Syndrome

Categories: Nephrological diseases, Blood diseases

Aliases & Classifications for Forsythe-Wakeling Syndrome

MalaCards integrated aliases for Forsythe-Wakeling Syndrome:

Name: Forsythe-Wakeling Syndrome 57 13 73
Microcephaly and Growth Retardation with Childhood-Onset Nephrotic Syndrome and Thrombocytopenia 57
Fws 57

Characteristics:

OMIM:

57
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:

32
forsythe-wakeling syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Forsythe-Wakeling Syndrome

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

Description from OMIM: 613606

Related Diseases for Forsythe-Wakeling Syndrome

Diseases related to Forsythe-Wakeling Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dermatitis 9.9
2 contact dermatitis 9.9
3 allergic contact dermatitis 9.9

Symptoms & Phenotypes for Forsythe-Wakeling Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
large ears

Neurologic Central Nervous System:
global developmental delay
speech delay

Growth Height:
short stature

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)

Head And Neck Face:
frontal bossing

Head And Neck Head:
microcephaly

Skeletal:
osteoporosis
delayed bone age

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

Human phenotypes related to Forsythe-Wakeling Syndrome:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 frontal bossing 32 HP:0002007
3 macrotia 32 HP:0000400
4 global developmental delay 32 HP:0001263
5 delayed skeletal maturation 32 HP:0002750
6 delayed speech and language development 32 HP:0000750
7 microcephaly 32 HP:0000252
8 short stature 32 HP:0004322
9 osteoporosis 32 HP:0000939
10 thrombocytopenia 32 HP:0001873
11 prominent nasal bridge 32 HP:0000426
12 deeply set eye 32 HP:0000490
13 decreased body weight 32 HP:0004325

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:

41
Eye, Skin, Bone

Publications for Forsythe-Wakeling Syndrome

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 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
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