MCID: TRG018
MIFTS: 7

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
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. Affiliated tissues include bone.

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

Anatomical Context for Trigonocephaly-Broad Thumbs Syndrome

MalaCards organs/tissues related to Trigonocephaly-Broad Thumbs Syndrome:

40
Bone

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>GSNV 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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