MCID: BRR007
MIFTS: 6

Borrone Di Rocco Crovato Syndrome

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Borrone Di Rocco Crovato Syndrome

MalaCards integrated aliases for Borrone Di Rocco Crovato Syndrome:

Name: Borrone Di Rocco Crovato Syndrome 54 6 74
Borrone Dermatocardioskeletal Syndrome 54

Classifications:



External Ids:

UMLS 74 C1859406

Summaries for Borrone Di Rocco Crovato Syndrome

MalaCards based summary : Borrone Di Rocco Crovato Syndrome, also known as borrone dermatocardioskeletal syndrome, is related to frank-ter haar syndrome. An important gene associated with Borrone Di Rocco Crovato Syndrome is SH3PXD2B (SH3 And PX Domains 2B). Affiliated tissues include skin.

Related Diseases for Borrone Di Rocco Crovato Syndrome

Diseases related to Borrone Di Rocco Crovato Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 frank-ter haar syndrome 11.7

Symptoms & Phenotypes for Borrone Di Rocco Crovato Syndrome

Drugs & Therapeutics for Borrone Di Rocco Crovato Syndrome

Search Clinical Trials , NIH Clinical Center for Borrone Di Rocco Crovato Syndrome

Genetic Tests for Borrone Di Rocco Crovato Syndrome

Anatomical Context for Borrone Di Rocco Crovato Syndrome

MalaCards organs/tissues related to Borrone Di Rocco Crovato Syndrome:

42
Skin

Publications for Borrone Di Rocco Crovato Syndrome

Variations for Borrone Di Rocco Crovato Syndrome

ClinVar genetic disease variations for Borrone Di Rocco Crovato Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SH3PXD2B NM_001017995.2(SH3PXD2B): c.401+1G> A single nucleotide variant Pathogenic rs367543284 GRCh37 Chromosome 5, 171809039: 171809039
2 SH3PXD2B NM_001017995.2(SH3PXD2B): c.401+1G> A single nucleotide variant Pathogenic rs367543284 GRCh38 Chromosome 5, 172382035: 172382035

Expression for Borrone Di Rocco Crovato Syndrome

Search GEO for disease gene expression data for Borrone Di Rocco Crovato Syndrome.

Pathways for Borrone Di Rocco Crovato Syndrome

GO Terms for Borrone Di Rocco Crovato Syndrome

Sources for Borrone Di Rocco Crovato Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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35 ICD10 via Orphanet
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70 SNOMED-CT via HPO
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74 UMLS
75 UMLS via Orphanet
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