eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| fibromatosis, juvenile hyaline | ||||
| Disease ID | 809 |
|---|---|
| Disease | fibromatosis, juvenile hyaline |
| Definition | Autosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous skin nodules; GINGIVAL HYPERTROPHY; and joint CONTRACTURES. Mutations in the capillary morphogenesis protein-2 are associated with the disorder. |
| Synonym | fibromatosis hyalinica multiplex juvenilis fibromatosis juvenile hyaline fibromatosis syndrome, hyaline fibromatosis syndromes, hyaline hfs hyaline fibromatosis juvenile hyaline fibromatosis syndrome hyaline fibromatosis syndromes hyaline fibromatosis, juvenile hyalinoses, infantile systemic hyalinoses, juvenile hyalinoses, systemic hyalinoses, systemic juvenile hyalinosis, infantile systemic hyalinosis, juvenile hyalinosis, systemic hyalinosis, systemic [disease/finding] hyalinosis, systemic juvenile infantile systemic hyalinoses infantile systemic hyalinosis infantile systemic hyalinosis (disorder) juvenile hyaline fibromatoses juvenile hyaline fibromatosis juvenile hyaline fibromatosis (disorder) juvenile hyalinoses juvenile hyalinoses, systemic juvenile hyalinosis juvenile hyalinosis, systemic mesenchymal dysplasia murray syndrome puretic syndrome puretic syndromes syndrome, hyaline fibromatosis syndrome, murray syndrome, puretic syndromes, hyaline fibromatosis syndromes, puretic systemic hyalinoses systemic hyalinoses, infantile systemic hyalinosis systemic hyalinosis, infantile systemic juvenile hyalinoses systemic juvenile hyalinosis |
| Orphanet | |
| OMIM | |
| UMLS | C2745948 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0024214 | lymphangiectasia | 1 C0795690 | omphalocele | 1 C0017567 | gingival hypertrophy | 1 C0085083 | ovarian hyperstimulation syndrome | 1 C0002871 | anemia | 1 C0020305 | hydrops fetalis | 1 |
| 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 | 809 |
|---|---|
| Disease | fibromatosis, juvenile hyaline |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0000212 | Gingival overgrowth | 2 HP:0001903 | Anemia | 1 HP:0001539 | Omphalocele | 1 HP:0002593 | Intestinal lymphangiectasia | 1 |
| Disease ID | 809 |
|---|---|
| Disease | fibromatosis, juvenile hyaline |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| ANTXR2 | NM_032861.3: c.1347_1349dupATC, p.(Ser450dup) | doi:10.1038/gim.2016.153 | A comprehensive strategy for exome-based preconception carrier screening |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137852901 | NA | 118429 | ANTXR2 | umls:C2745948 | CLINVAR | NA | 0.363528744 | NA | ANTXR2 | 4 | 79983915 | T | C,A |
| rs137852902 | NA | 118429 | ANTXR2 | umls:C2745948 | CLINVAR | NA | 0.363528744 | NA | ANTXR2 | 4 | 80055996 | C | T |
| rs137852903 | NA | 118429 | ANTXR2 | umls:C2745948 | CLINVAR | NA | 0.363528744 | NA | ANTXR2 | 4 | 80008576 | A | C |
| rs137852904 | NA | 118429 | ANTXR2 | umls:C2745948 | CLINVAR | NA | 0.363528744 | NA | ANTXR2 | 4 | 80036011 | C | T,A |
| rs137852905 | NA | 118429 | ANTXR2 | umls:C2745948 | CLINVAR | NA | 0.363528744 | NA | ANTXR2 | 4 | 80054342 | A | G |
| rs312262690 | NA | 118429 | ANTXR2 | umls:C2745948 | CLINVAR | NA | 0.363528744 | NA | ANTXR2 | 4 | 79984831 | - | G,GG |
| rs797045028 | NA | 118429 | ANTXR2 | umls:C2745948 | CLINVAR | NA | 0.363528744 | NA | ANTXR2 | 4 | 79978049 | G | - |
| rs797045029 | NA | 118429 | ANTXR2 | umls:C2745948 | CLINVAR | NA | 0.363528744 | NA | ANTXR2 | 4 | 80069491 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 809 |
|---|---|
| Disease | fibromatosis, juvenile hyaline |
| Case | (Waiting for update.) |