MCID: BRR007
MIFTS: 7

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 20 6 71
Borrone Dermatocardioskeletal Syndrome 20

Classifications:



External Ids:

UMLS 71 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).

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 11.6

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

Publications for Borrone Di Rocco Crovato Syndrome

Articles related to Borrone Di Rocco Crovato Syndrome:

# Title Authors PMID Year
1
Progressive erosive arthropathy with contractures, multicentric osteolysis-like changes, characteristic craniofacial appearance, and dermatological abnormalities: a new syndrome? 61
11343304 2001

Variations for Borrone Di Rocco Crovato Syndrome

ClinVar genetic disease variations for Borrone Di Rocco Crovato Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SH3PXD2B NM_001017995.3(SH3PXD2B):c.401+1G>A SNV Pathogenic 55933 rs367543284 5:171809039-171809039 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
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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