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 59

Classifications:



External Ids:

UMLS via Orphanet 73 C0031900
Orphanet 59 ORPHA138044

Summaries for Rare Disease with Pierre Robin Syndrome

MalaCards based summary : Rare Disease with Pierre Robin Syndrome is related to alacrima, achalasia, and mental retardation 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 alacrima, achalasia, and mental retardation syndrome 9.5 MED13L EBF3
2 isolated pierre robin sequence 9.4 MED13L EBF3
3 pierre robin 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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 46;XX;ins(5;6)(p13;p24p25)dn Translocation Pathogenic
2 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic
3 EBF3 NM_001005463.3(EBF3): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic/Likely pathogenic rs1057519389 10:131755588-131755588 10:129957324-129957324
4 covers 27 genes, none of which curated to show dosage sensitivity duplication Likely pathogenic 17:7124585-7400253 :0-0
5 TNNT3 NM_006757.4(TNNT3): c.667C> T (p.Arg223Cys) single nucleotide variant Uncertain significance rs367658497 11:1956135-1956135 11:1934905-1934905
6 46;XY;t(1;6)(q23;q13)dn Translocation Uncertain significance
7 46;XX;t(1;13)(p36.1;q12.1)dn Translocation Uncertain significance
8 46;XX;t(6;7;17)(p23;p22;q25)pat Translocation Uncertain significance
9 46;XY;t(10;17)(p13;q23)dn Translocation Uncertain significance
10 CYBRD1 ; DLX1 ; DLX2 ; DYNC1I2 ; HAT1 ; METAP1D ; SLC25A12 GRCh37/hg19 2q31.1(chr2: 172344870-173038935)x4 copy number gain Uncertain significance 2:172344870-173038935 :0-0

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 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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