eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| weill-marchesani syndrome | ||||
| Disease ID | 53 |
|---|---|
| Disease | weill-marchesani syndrome |
| Definition | Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen. |
| Synonym | brachydactyly-spherophakia syndrome brachymorphy with spherophakia syndrome congenital mesodermal dysmorphodystrophies congenital mesodermal dysmorphodystrophy dysmorphodystrophies, congenital mesodermal dysmorphodystrophy, congenital mesodermal marchesani syndrome marchesani syndrome (disorder) marchesani weill syndrome marchesani's syndrome marchesani-weill syndrome marchesani-weill syndromes mesodermal dysmorphodystrophies, congenital mesodermal dysmorphodystrophy, congenital spherophakia brachymorphia syndrome spherophakia brachymorphia syndromes spherophakia-brachymorphia syndrome syndrome, spherophakia brachymorphia syndromes, spherophakia brachymorphia weill marchesani syndrome weill-marchesani syndrome (disorder) weill-marchesani syndrome [disease/finding] wms - weill-marchesani syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0265313 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0023316 | lens subluxation | 1 C1956257 | pulmonary stenosis | 1 C0003493 | aortic disease | 1 C0017601 | glaucoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:17) 11093 | ADAMTS13 | 3.65 | DISEASES 80070 | ADAMTS20 | 3.659 | DISEASES 11174 | ADAMTS6 | 3.784 | DISEASES 9719 | ADAMTSL2 | 6.525 | DISEASES 875 | CBS | 1.17 | DISEASES 1538 | CYLC1 | 2.738 | DISEASES 1539 | CYLC2 | 3.974 | DISEASES 2200 | FBN1 | 6.254 | DISEASES 3339 | HSPG2 | 1.39 | DISEASES 4052 | LTBP1 | 2.832 | DISEASES 89932 | PAPLN | 4.251 | DISEASES 6385 | SDC4 | 2.322 | DISEASES 4089 | SMAD4 | 1.959 | DISEASES 84897 | TBRG1 | 4.696 | DISEASES 7048 | TGFBR2 | 1.33 | DISEASES 286753 | TUSC5 | 2.134 | DISEASES 157680 | VPS13B | 2.285 | DISEASES |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 53 |
|---|---|
| Disease | weill-marchesani syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:16) HP:0001256 | Intellectual disability, mild HP:0001650 | Aortic valve stenosis HP:0001653 | Mitral regurgitation HP:0001083 | Ectopia lentis HP:0000518 | Cataract HP:0002564 | Malformation of the heart and great vessels HP:0004322 | Short stature HP:0000572 | Visual loss HP:0001629 | Ventricular septal defect HP:0001376 | Limitation of joint mobility HP:0001072 | Thickened skin HP:0009778 | Short thumb HP:0000501 | Glaucoma HP:0001642 | Pulmonic stenosis HP:0011003 | Severe Myopia HP:0001156 | Brachydactyly syndrome |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0000501 | Glaucoma | 1 HP:0012841 | Retinal vascular tortuosity | 1 HP:0004948 | Twisted blood vessels | 1 HP:0001132 | Lens subluxation | 1 HP:0001642 | Pulmonic stenosis | 1 HP:0001083 | Dislocated lenses | 1 |
| Disease ID | 53 |
|---|---|
| Disease | weill-marchesani syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434358 | 18567016 | 81794 | ADAMTS10 | umls:C0265313 | BeFree | We report the identification and functional analysis of the first missense ADAMTS10 mutation (c.73G>A; p.Ala25Thr) causing recessive Weill-Marchesani syndrome (WMS). | 0.241357209 | 2008 | ADAMTS10 | 19 | 8605638 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001072 | Thickened skin | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0001376 | Limitation of joint mobility | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0001650 | Aortic valve stenosis | MP:0010618 | enlarged mitral valve | an increase in the total area occupied by the mitral valve |
| HP:0001083 | Ectopia lentis | MP:0005263 | ectopia lentis | congenital displacement of the lens due to defective zonule formation |
| HP:0001642 | Pulmonic stenosis | MP:0010449 | heart right ventricle outflow tract stenosis | abnormal constriction or narrowing of part of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk |
| HP:0001629 | Ventricular septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0000572 | Visual loss | MP:0011352 | proximal convoluted tubule brush border loss | attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes |
Mapped by homologous gene(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001650 | Aortic valve stenosis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001256 | Intellectual disability, mild | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0011003 | Severe Myopia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000572 | Visual loss | MP:0020194 | abnormal glycosphingolipid level | any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body |
| HP:0001653 | Mitral regurgitation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001629 | Ventricular septal defect | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001642 | Pulmonic stenosis | MP:0020040 | decreased bone ossification | decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0009778 | Short thumb | MP:0020040 | decreased bone ossification | decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001376 | Limitation of joint mobility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001072 | Thickened skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000501 | Glaucoma | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001083 | Ectopia lentis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 53 |
|---|---|
| Disease | weill-marchesani syndrome |
| Case | (Waiting for update.) |