eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| otopalatodigital syndrome | ||||
| Disease ID | 1394 |
|---|---|
| Disease | otopalatodigital syndrome |
| Definition | A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected. |
| Synonym | andre syndrome cranio-oro-digital syndrome cranioorodigital syndrome faciopalatoosseous syndrome fpo opd - otopalatodigital syndrome opd ii syndrome opd syndrome 2 opd syndrome, type 2 opd2 oto-palato-digital syndrome, type 2 oto-palato-digital syndrome, type ii oto-palato-digital syndrome, type ii (disorder) otopalatodigital syndrome type 2 otopalatodigital syndrome, type ii |
| Orphanet | |
| OMIM | |
| UMLS | C1844696 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1394 |
|---|---|
| Disease | otopalatodigital syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1394 |
|---|---|
| Disease | otopalatodigital syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853317 | NA | 2316 | FLNA | umls:C1844696 | CLINVAR | NA | 0.562442977 | NA | FLNA | X | 154367878 | G | A |
| rs137853318 | NA | 2316 | FLNA | umls:C1844696 | CLINVAR | NA | 0.562442977 | NA | FLNA | X | 154367732 | C | A |
| rs28935470 | NA | 2316 | FLNA | umls:C1844696 | CLINVAR | NA | 0.562442977 | NA | FLNA | X | 154367505 | C | T |
| rs28935470 | 19773341 | 2316 | FLNA | umls:C1844696 | BeFree | Ex vivo characterization of E254K OPD patient fibroblasts revealed they have similar motility and adhesion as control cells, implying that many core functions mediated by FLNA are unaffected, consistent with OPD only affecting specific tissues despite FLNA being widely expressed. | 0.562442977 | 2009 | FLNA | X | 154367505 | C | T |
| rs28935470 | 12612583 | 2316 | FLNA | umls:C1844696 | UNIPROT | We identified localized mutations in FLNA that conserve the reading frame and lead to a broad range of congenital malformations, affecting craniofacial structures, skeleton, brain, viscera and urogenital tract, in four X-linked human disorders: otopalatodigital syndrome types 1 (OPD1; OMIM 311300) and 2 (OPD2; OMIM 304120), frontometaphyseal dysplasia (FMD; OMIM 305620) and Melnick-Needles syndrome (MNS; OMIM 309350). | 0.562442977 | 2003 | FLNA | X | 154367505 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1394 |
|---|---|
| Disease | otopalatodigital syndrome |
| Case | (Waiting for update.) |