MCID: FTZ005
MIFTS: 11

Fitzsimmons-Guilbert Syndrome

Categories: Rare diseases

Aliases & Classifications for Fitzsimmons-Guilbert Syndrome

MalaCards integrated aliases for Fitzsimmons-Guilbert Syndrome:

Name: Fitzsimmons-Guilbert Syndrome 53 29 6 73
Spastic Paraplegia Associated with Brachydactyly Type E 53
Fitzsimmons Syndrome 53

Classifications:



External Ids:

UMLS 73 C0795942

Summaries for Fitzsimmons-Guilbert Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2823Disease definitionThis syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely.Visit the Orphanet disease page for more resources.

MalaCards based summary : Fitzsimmons-Guilbert Syndrome, also known as spastic paraplegia associated with brachydactyly type e, is related to fitzsimmons syndrome and brachydactyly, type e1. An important gene associated with Fitzsimmons-Guilbert Syndrome is TBL1XR1 (Transducin Beta Like 1 X-Linked Receptor 1).

Wikipedia : 76 Fitzsimmons–Guilbert syndrome is an extremely rare genetic disease characterized by a slowly progressive... more...

Related Diseases for Fitzsimmons-Guilbert Syndrome

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

# Related Disease Score Top Affiliating Genes
1 fitzsimmons syndrome 11.6
2 brachydactyly, type e1 10.2
3 brachydactyly 10.2
4 paraplegia 10.2
5 spasticity 10.2

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



Diseases related to Fitzsimmons-Guilbert Syndrome

Symptoms & Phenotypes for Fitzsimmons-Guilbert Syndrome

Drugs & Therapeutics for Fitzsimmons-Guilbert Syndrome

Search Clinical Trials , NIH Clinical Center for Fitzsimmons-Guilbert Syndrome

Genetic Tests for Fitzsimmons-Guilbert Syndrome

Genetic tests related to Fitzsimmons-Guilbert Syndrome:

# Genetic test Affiliating Genes
1 Fitzsimmons-Guilbert Syndrome 29 TBL1XR1

Anatomical Context for Fitzsimmons-Guilbert Syndrome

Publications for Fitzsimmons-Guilbert Syndrome

Articles related to Fitzsimmons-Guilbert Syndrome:

# Title Authors Year
1
Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome? ( 10323731 )
1999

Variations for Fitzsimmons-Guilbert Syndrome

ClinVar genetic disease variations for Fitzsimmons-Guilbert Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBL1XR1 NM_024665.5(TBL1XR1): c.209G> A (p.Gly70Asp) single nucleotide variant Pathogenic rs786205859 GRCh37 Chromosome 3, 176769510: 176769510
2 TBL1XR1 NM_024665.5(TBL1XR1): c.209G> A (p.Gly70Asp) single nucleotide variant Pathogenic rs786205859 GRCh38 Chromosome 3, 177051722: 177051722
3 TBL1XR1 TBL1XR1, LEU282PRO undetermined variant Pathogenic
4 TBL1XR1 I397SFSTER19 undetermined variant Pathogenic
5 TBL1XR1 NM_024665.5(TBL1XR1): c.734A> G (p.Tyr245Cys) single nucleotide variant Pathogenic rs878854401 GRCh37 Chromosome 3, 176765306: 176765306
6 TBL1XR1 NM_024665.5(TBL1XR1): c.734A> G (p.Tyr245Cys) single nucleotide variant Pathogenic rs878854401 GRCh38 Chromosome 3, 177047518: 177047518
7 TBL1XR1 NM_024665.5(TBL1XR1): c.977G> T (p.Ser326Ile) single nucleotide variant Likely pathogenic rs1135401760 GRCh37 Chromosome 3, 176756171: 176756171
8 TBL1XR1 NM_024665.5(TBL1XR1): c.977G> T (p.Ser326Ile) single nucleotide variant Likely pathogenic rs1135401760 GRCh38 Chromosome 3, 177038383: 177038383
9 TBL1XR1 NM_024665.5(TBL1XR1): c.974G> A (p.Cys325Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 177038386: 177038386
10 TBL1XR1 NM_024665.5(TBL1XR1): c.974G> A (p.Cys325Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 176756174: 176756174

Expression for Fitzsimmons-Guilbert Syndrome

Search GEO for disease gene expression data for Fitzsimmons-Guilbert Syndrome.

Pathways for Fitzsimmons-Guilbert Syndrome

GO Terms for Fitzsimmons-Guilbert Syndrome

Sources for Fitzsimmons-Guilbert 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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