MCID: TRG018
MIFTS: 8

Trigonocephaly-Broad Thumbs Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Trigonocephaly-Broad Thumbs Syndrome

MalaCards integrated aliases for Trigonocephaly-Broad Thumbs Syndrome:

Name: Trigonocephaly-Broad Thumbs Syndrome 58 29
Hunter-Rudd-Hoffmann Syndrome 58
Hunter Rudd Hoffmann Syndrome 6

Characteristics:

Orphanet epidemiological data:

58
trigonocephaly-broad thumbs syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.0
Orphanet 58 ORPHA3365

Summaries for Trigonocephaly-Broad Thumbs Syndrome

MalaCards based summary : Trigonocephaly-Broad Thumbs Syndrome, is also known as hunter-rudd-hoffmann syndrome. An important gene associated with Trigonocephaly-Broad Thumbs Syndrome is HUWE1 (HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1).

Related Diseases for Trigonocephaly-Broad Thumbs Syndrome

Symptoms & Phenotypes for Trigonocephaly-Broad Thumbs Syndrome

Drugs & Therapeutics for Trigonocephaly-Broad Thumbs Syndrome

Search Clinical Trials , NIH Clinical Center for Trigonocephaly-Broad Thumbs Syndrome

Genetic Tests for Trigonocephaly-Broad Thumbs Syndrome

Genetic tests related to Trigonocephaly-Broad Thumbs Syndrome:

# Genetic test Affiliating Genes
1 Trigonocephaly-Broad Thumbs Syndrome 29

Anatomical Context for Trigonocephaly-Broad Thumbs Syndrome

Publications for Trigonocephaly-Broad Thumbs Syndrome

Variations for Trigonocephaly-Broad Thumbs Syndrome

ClinVar genetic disease variations for Trigonocephaly-Broad Thumbs Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HUWE1 NM_031407.7(HUWE1):c.145-2A>G SNV Likely pathogenic 617512 rs1569509136 X:53674519-53674519 X:53647576-53647576

Expression for Trigonocephaly-Broad Thumbs Syndrome

Search GEO for disease gene expression data for Trigonocephaly-Broad Thumbs Syndrome.

Pathways for Trigonocephaly-Broad Thumbs Syndrome

GO Terms for Trigonocephaly-Broad Thumbs Syndrome

Sources for Trigonocephaly-Broad Thumbs 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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