MCID: RRD018
MIFTS: 10

Rare Disease with Pierre Robin Syndrome

Categories: Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Rare Disease with Pierre Robin Syndrome

MalaCards integrated aliases for Rare Disease with Pierre Robin Syndrome:

Name: Rare Disease with Pierre Robin Syndrome 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

UMLS via Orphanet 72 C0031900
Orphanet 58 ORPHA138044

Summaries for Rare Disease with Pierre Robin Syndrome

MalaCards based summary : Rare Disease with Pierre Robin Syndrome is related to pierre robin syndrome and isolated pierre robin sequence. An important gene associated with Rare Disease with Pierre Robin Syndrome is EBF3 (EBF Transcription Factor 3).

Related Diseases for Rare Disease with Pierre Robin Syndrome

Diseases in the Pierre Robin Syndrome family:

Rare Disease with Pierre Robin Syndrome

Diseases related to Rare Disease with Pierre Robin Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pierre robin syndrome 9.5 MED13L EBF3
2 isolated pierre robin sequence 9.5 MED13L EBF3
3 vesicoureteral reflux 1 9.4 MED13L EBF3
4 alacrima, achalasia, and mental retardation syndrome 9.2 MED13L EBF3

Symptoms & Phenotypes for Rare Disease with Pierre Robin Syndrome

Drugs & Therapeutics for Rare Disease with Pierre Robin Syndrome

Search Clinical Trials , NIH Clinical Center for Rare Disease with Pierre Robin Syndrome

Genetic Tests for Rare Disease with Pierre Robin Syndrome

Anatomical Context for Rare Disease with Pierre Robin Syndrome

Publications for Rare Disease with Pierre Robin Syndrome

Variations for Rare Disease with Pierre Robin Syndrome

ClinVar genetic disease variations for Rare Disease with Pierre Robin Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MED13L t(12;19)(q24.21;q12)Translocation Pathogenic 218934
2 46;XX;ins(5;6)(p13;p24p25)dnTranslocation Pathogenic 267851
3 EBF3 NM_001005463.3(EBF3):c.488G>A (p.Arg163Gln)SNV Pathogenic/Likely pathogenic 268156 rs1057519389 10:131755588-131755588 10:129957324-129957324
4 covers 27 genes, none of which curated to show dosage sensitivity duplication Likely pathogenic 562231 17:7124585-7400253
5 CYBRD1 , DLX1 , DLX2 , DYNC1I2 , HAT1 , METAP1D , SLC25A12 GRCh37/hg19 2q31.1(chr2:172344870-173038935)x4copy number gain Uncertain significance 559503 2:172344870-173038935
6 TNNT3 NM_006757.4(TNNT3):c.667C>T (p.Arg223Cys)SNV Uncertain significance 252670 rs367658497 11:1956135-1956135 11:1934905-1934905
7 46;XY;t(1;6)(q23;q13)dnTranslocation Uncertain significance 267836
8 46;XX;t(1;13)(p36.1;q12.1)dnTranslocation Uncertain significance 267878
9 46;XX;t(6;7;17)(p23;p22;q25)patTranslocation Uncertain significance 267909
10 46;XY;t(10;17)(p13;q23)dnTranslocation Uncertain significance 268030

Expression for Rare Disease with Pierre Robin Syndrome

Search GEO for disease gene expression data for Rare Disease with Pierre Robin Syndrome.

Pathways for Rare Disease with Pierre Robin Syndrome

GO Terms for Rare Disease with Pierre Robin Syndrome

Sources for Rare Disease with Pierre Robin 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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