MCID: FTZ003
MIFTS: 15

Fitzsimmons Syndrome

Categories: Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Fitzsimmons Syndrome

MalaCards integrated aliases for Fitzsimmons Syndrome:

Name: Fitzsimmons Syndrome 53
Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 53
Fitzsimmons-Guilbert Syndrome 73

Classifications:



External Ids:

UMLS 73 C0795942

Summaries for Fitzsimmons Syndrome

MalaCards based summary : Fitzsimmons Syndrome, also known as mental retardation with spastic paraplegia and palmoplantar hyperkeratosis, is related to mental retardation with spastic paraplegia and palmoplantar hyperkeratosis and fitzsimmons-guilbert syndrome. An important gene associated with Fitzsimmons Syndrome is SACS (Sacsin Molecular Chaperone). Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis 12.4
2 fitzsimmons-guilbert syndrome 10.9
3 brachydactyly 10.0
4 paraplegia 10.0
5 spasticity 10.0
6 trehalase deficiency 9.2 SACS TRPS1

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 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.89 TRPS1 SACS
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.89 TRPS1 TBL1XR1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.89 TRPS1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.89 TBL1XR1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.89 TRPS1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.89 SACS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.89 SACS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.89 SACS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.89 TBL1XR1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.89 TRPS1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.89 TBL1XR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.89 TRPS1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.89 TBL1XR1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.89 TRPS1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.89 SACS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.89 SACS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.89 TRPS1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.89 TBL1XR1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.89 SACS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.89 SACS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.89 TRPS1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.89 TBL1XR1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.89 SACS
24 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.89 TRPS1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.89 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 Year
1
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. ( 27133561 )
2016
2
Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment. ( 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? ( 10323731 )
1999
4
Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome. ( 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

Biological processes related to Fitzsimmons Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 8.62 TBL1XR1 TRPS1

Sources for Fitzsimmons 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
Content
Loading form....