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 59
Hunter-Rudd-Hoffmann Syndrome 59
Hunter Rudd Hoffmann Syndrome 6

Characteristics:

Orphanet epidemiological data:

59
trigonocephaly-broad thumbs syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q87.0
Orphanet 59 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:

41
Bone

Publications for Trigonocephaly-Broad Thumbs Syndrome

Variations for Trigonocephaly-Broad Thumbs Syndrome

ClinVar genetic disease variations for Trigonocephaly-Broad Thumbs Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HUWE1 NM_031407.7(HUWE1): c.145-2A> G single nucleotide variant Likely pathogenic 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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