MCID: FTZ003
MIFTS: 13

Fitzsimmons Syndrome

Categories: Rare diseases

Aliases & Classifications for Fitzsimmons Syndrome

MalaCards integrated aliases for Fitzsimmons Syndrome:

Name: Fitzsimmons Syndrome 20 20
Fitzsimmons-Guilbert Syndrome 20 70
Spastic Paraplegia Associated with Brachydactyly Type E 20

Classifications:



External Ids:

UMLS 70 C0795942

Summaries for Fitzsimmons Syndrome

MalaCards based summary : Fitzsimmons Syndrome, also known as fitzsimmons-guilbert syndrome, is related to brachydactyly and paraplegia. An important gene associated with Fitzsimmons Syndrome is SACS (Sacsin Molecular Chaperone). Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 73 Fitzsimmons-Guilbert syndrome is an extremely rare genetic disease characterized by a slowly progressive... more...

Related Diseases for Fitzsimmons Syndrome

Diseases related to Fitzsimmons Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachydactyly 10.2
2 paraplegia 10.2
3 spastic ataxia, charlevoix-saguenay type 10.1
4 mental retardation, autosomal dominant 41 10.1
5 spasticity 10.1
6 trichorhinophalangeal syndrome, type i 10.0
7 ataxia and polyneuropathy, adult-onset 10.0
8 spastic ataxia 10.0
9 trichorhinophalangeal syndrome 10.0
10 autosomal recessive spastic ataxia 10.0

Graphical network of the top 20 diseases related to Fitzsimmons Syndrome:



Diseases related to Fitzsimmons Syndrome

Symptoms & Phenotypes for Fitzsimmons Syndrome

GenomeRNAi Phenotypes related to Fitzsimmons Syndrome according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-103 9.66 TRPS1 SACS
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.66 TRPS1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 9.66 TRPS1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.66 TRPS1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 9.66 SACS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 9.66 TBL1XR1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.66 SACS
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-186 9.66 TBL1XR1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.66 SACS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.66 SACS
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.66 SACS
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.66 TBL1XR1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.66 TRPS1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-46 9.66 SACS
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.66 TBL1XR1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 9.66 SACS

Drugs & Therapeutics for Fitzsimmons Syndrome

Search Clinical Trials , NIH Clinical Center for Fitzsimmons Syndrome

Genetic Tests for Fitzsimmons Syndrome

Anatomical Context for Fitzsimmons Syndrome

Publications for Fitzsimmons Syndrome

Articles related to Fitzsimmons Syndrome:

# Title Authors PMID Year
1
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. 61
27133561 2016
2
Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment. 61
19760657 2009
3
Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome? 61
10323731 1999
4
Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome. 61
8014978 1994

Variations for Fitzsimmons Syndrome

Expression for Fitzsimmons Syndrome

Search GEO for disease gene expression data for Fitzsimmons Syndrome.

Pathways for Fitzsimmons Syndrome

GO Terms for Fitzsimmons Syndrome

Sources for Fitzsimmons 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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