MCID: FTZ005
MIFTS: 10

Fitzsimmons-Guilbert Syndrome

Categories: Rare diseases

Aliases & Classifications for Fitzsimmons-Guilbert Syndrome

MalaCards integrated aliases for Fitzsimmons-Guilbert Syndrome:

Name: Fitzsimmons-Guilbert Syndrome 54 30 6 74
Spastic Paraplegia Associated with Brachydactyly Type E 54
Fitzsimmons Syndrome 54

Classifications:



External Ids:

UMLS 74 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).

Wikipedia : 77 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 11.8
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 30

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 rs1553810255 GRCh38 Chromosome 3, 177038386: 177038386
10 TBL1XR1 NM_024665.5(TBL1XR1): c.974G> A (p.Cys325Tyr) single nucleotide variant Likely pathogenic rs1553810255 GRCh37 Chromosome 3, 176756174: 176756174
11 TBL1XR1 NM_024665.5(TBL1XR1): c.874dup (p.Ile292Asnfs) duplication Pathogenic rs1553813646 GRCh38 Chromosome 3, 177046180: 177046180
12 TBL1XR1 NM_024665.5(TBL1XR1): c.874dup (p.Ile292Asnfs) duplication Pathogenic rs1553813646 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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