MCID: FTZ005
MIFTS: 9

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

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).

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 11.8
2 brachydactyly, type e1 10.4
3 brachydactyly 10.4
4 paraplegia 10.4

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 (show all 12)
# 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
11 TBL1XR1 NM_024665.5(TBL1XR1): c.874dup (p.Ile292Asnfs) duplication Pathogenic GRCh38 Chromosome 3, 177046180: 177046180
12 TBL1XR1 NM_024665.5(TBL1XR1): c.874dup (p.Ile292Asnfs) duplication Pathogenic GRCh37 Chromosome 3, 176763968: 176763968

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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