Disease Browser
|
Parent Node: Abnormalities, Multiple (D000015) | Parent Node: Arachnodactyly (D054119) | Parent Node: Blepharophimosis (D016569) | Parent Node: Connective Tissue Diseases (D003240) | Parent Node: Contracture (D003286) | ..Starting node ..Marden-Walker syndrome (C535910)
| Child Nodes:
|
Sister Nodes: | ..Aase Smith syndrome (C535332)
| ..Alopecia contractures dwarfism mental retardation (C537051)
| ..Arthropathy, Erosive (C565273)
| ..Axial mesodermal dysplasia spectrum (C537790)
| ..Bethlem myopathy (C535436)
| ..Bone Fragility with Contractures, Arterial Rupture, and Deafness (C567320)
| ..Bowen syndrome (C538164)
| ..Camptodactyly joint contractures and facial skeletal dysplasia (C537969)
| ..Congenital contractural arachnodactyly (C536211)
| ..Congenital ectodermal dysplasia with hearing loss (C535757)
| ..Contractures, Congenital, Torticollis, and Malignant Hyperthermia (C565679)
| ..Davenport Donlan syndrome (C535988)
| ..Dupuytren Contracture (D004387) 2
| ..Dystonia with Ringbinden (C565608)
| ..Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
| ..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
| ..Hip Contracture (D006616)
| ..Histiocytosis with joint contractures and sensorineural deafness (C538322)
| ..Iida Kannari syndrome (C536284)
| ..Inclusion Body Myopathy 3, Autosomal Dominant (C565311)
| ..Inclusion body myopathy, autosomal dominant (C538330)
| ..Ischemic Contracture (D054061)
| ..Lethal Congenital Contractural Syndrome 3 (C566961)
| ..Macleod Fraser syndrome (C537715)
| ..Marden Walker like syndrome (C535909)
| ..Marden-Walker syndrome (C535910)
| ..Mental retardation Mietens Weber type (C537444)
| ..Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism (C565246)
| ..Multiple Pterygium Syndrome, X-Linked (C564072)
| ..Muscular dystrophy, tardive Emery-Dreifuss type, with contractures (C535734)
| ..Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures (C538478)
| ..Rozin Hertz Goodman syndrome (C535876)
| ..Spastic Paraplegia 18, Autosomal Recessive (C567628)
| ..Spondylospinal Thoracic Dysostosis (C566622)
| ..Stiff Skin Syndrome (C566112)
| ..Tight skin contracture syndrome, lethal (C536920)
| ..Wieacker syndrome (C536703)
| ..Winchester syndrome (C536709)
| ..Winter Harding Hyde syndrome (C536712)
|
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
|
|
|
Term ID: | 6787 |
Name: | Marden-Walker syndrome |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D000015|MESH:D003240|MESH:D003286|MESH:D016569|MESH:D054119 |
TreeNumbers: | C05.550.323/C535910 |C05.651.197/C535910 |C05.660.585.174/C535910 |C11.250.090/C535910 |C11.338.190/C535910 |C16.131.077/C535910 |C16.131.384.190/C535910 |C16.131.621.585.174/C535910 |C17.300/C535910 |
Synonyms: | Blepharophimosis, micrognathia, immobile facies, kyphoscoliosis, limb contractures, pigeon breast, and arachnodactyly |Connective Tissue Disorder, Marden-Walker Type |Generalized connective tissue syndrome |
Slim Mappings: | Congenital abnormality|Connective tissue disease|Eye disease|Musculoskeletal disease |
Reference: |
MedGen: C535910
MeSH: C535910
OMIM: 248700;
Genes: PIEZO2; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_022068.3(PIEZO2):c.8056C>T (p.Arg2686Cys) | 63895 | PIEZO2 | Pathogenic | 587777451 | RCV000125479; | N | MedGen:C0796033,OMIM:248700,ORPHA:2461 | 18 | 10671727 | 10671727 | NM_022068.3:c.8056C>T | NP_071351.2:p.Arg2686Cys | 18:g.10671727G>A | OMIM Allelic Variant:613629.0004 | C0796033 248700 Marden-Walker syndrome | | |
|
|