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MCID: TRG018
MIFTS: 8
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Trigonocephaly-Broad Thumbs Syndrome
Categories:
Bone diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Trigonocephaly-Broad Thumbs Syndrome:
Characteristics:Orphanet epidemiological data:58
trigonocephaly-broad thumbs syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Classifications:
ICD10:
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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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).
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Genetic tests related to Trigonocephaly-Broad Thumbs Syndrome:
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Genes related to Trigonocephaly-Broad Thumbs Syndrome (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Trigonocephaly-Broad Thumbs Syndrome:6
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Search
GEO
for disease gene expression data for Trigonocephaly-Broad Thumbs Syndrome.
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