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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Bone Diseases, Developmental (D001848)
Parent Node: Connective Tissue Diseases (D003240)
Parent Node: Dwarfism (D004392)
Parent Node: Eye Diseases, Hereditary (D015785)
Parent Node: Genetic Diseases, Inborn (D030342)
..Starting node ..Weill-Marchesani Syndrome (D056846)
Child Nodes:
Sister Nodes:
..ACTH Deficiency, Isolated (C562707)
..Adrenal Hyperplasia, Congenital (D000312) 12
..Adrenocortical Hypofunction, Chronic Primary Congenital (C562711)
..Alagille Syndrome (D016738)
..alpha 1-Antitrypsin Deficiency (D019896) 1
..Alpha-2-Deficient Collagen Disease (C565963)
..Anemia, Hemolytic, Congenital (D000745) 68
..Anemia, Hypoplastic, Congenital (D029502) 27
..Angioedemas, Hereditary (D054179) 2
..Ataxia Telangiectasia (D001260) 6
..Atrial Standstill (C563984)
..Autoimmune Lymphoproliferative Syndrome (D056735) 5
..Blood Coagulation Disorders, Inherited (D025861) 70
..Brugada Syndrome (D053840) 9
..CADASIL (D046589) 1
..Camurati-Engelmann Syndrome (D003966) 4
..Cardiomyopathy, Hypertrophic, Familial (D024741) 15
..Cerebral Palsy, Ataxic, Autosomal Recessive (C562856)
..CHARGE Syndrome (D058747)
..Cherubism (D002636) 2
..Chromosome Disorders (D025063) 160
..Cirrhosis, Familial (C566123)
..Complement Factor I Deficiency (C572568)
..Corticosteroid-Binding Globulin Deficiency (C565152)
..Costello Syndrome (D056685)
..Cryoglobulinemia, Familial Mixed (C565141)
..Cystic Fibrosis (D003550) 4
..Donohue Syndrome (D056731) 1
..Dwarfism (D004392) 155
..Epistaxis, Hereditary (C562751)
..Eye Diseases, Hereditary (D015785) 373
..Frasier Syndrome (D052159)
..Genetic Diseases, X-Linked (D040181) 412
..Genetic Diseases, Y-Linked (D050174) 5
..Hajdu-Cheney Syndrome (D031845) 1
..Hemoglobinopathies (D006453) 23
..Hepatic Fibrosis, Congenital (C562378)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Heredodegenerative Disorders, Nervous System (D020271) 543
..Histiocytosis, Familial Lipochrome (C562738)
..Hyper-IgM Immunodeficiency Syndrome (D053306) 3
..Hyperthyroxinemia, Familial Dysalbuminemic (D050010) 1
..Interstitial Pneumonitis, Desquamative, Familial (C562470)
..Kallmann Syndrome (D017436) 9
..Kartagener Syndrome (D007619) 6
..Lennox Gastaut Syndrome (D065768) 1
..Loeys-Dietz Syndrome (D055947) 5
..Marfan Syndrome (D008382) 9
..Metabolism, Inborn Errors (D008661) 886
..Muscular Dystrophies (D009136) 117
..Myasthenic Syndromes, Congenital (D020294) 15
..Nail-Patella Syndrome (D009261) 1
..Neoplastic Syndromes, Hereditary (D009386) 111
..Neutropenia, Nonimmune Chronic Idiopathic, Adult (C564320)
..Osteoarthropathy, Primary Hypertrophic (D010004) 2
..Osteogenesis Imperfecta (D010013) 27
..Pain Insensitivity, Congenital (D000699) 2
..Parotidomegaly, Hereditary Bilateral (C566821)
..Pelger-Huet Anomaly (D010381)
..Platelet Glycoprotein IV Deficiency (C564245)
..Polycystic Kidney, Autosomal Recessive (D017044) 3
..Prolactin Deficiency, Isolated (C562708)
..Pulmonary Alveolar Microlithiasis (C562405)
..Pycnodysostosis (D058631)
..Rh Deficiency Syndrome (C562717)
..Skin Diseases, Genetic (D012873) 462
..Weill-Marchesani Syndrome (D056846)
..Werner Syndrome (D014898) 1
..Yellow Nail Syndrome (D056684) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11722

Name:

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.

Alternative IDs:

OMIM:277600|OMIM:608328

ParentIDs:

TreeNumbers:

C05.116.099.343.957 |C05.116.099.875 |C11.270.921 |C16.131.077.941 |C16.320.290.842 |C16.320.887 |C17.300.899

Synonyms:

Slim Mappings:

Congenital abnormality|Connective tissue disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: D056846
MeSH: D056846
OMIM: 277600;

Genes: ADAMTS10; FBN1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0006482	Abnormality of dental morphology
3	HP:0001650	Aortic valve stenosis
4	HP:0000618	Blindness
5	HP:0000248	Brachycephaly
6	HP:0001156	Brachydactyly
7	HP:0001230	Broad metacarpals
8	HP:0001783	Broad metatarsal
9	HP:0001169	Broad palm
10	HP:0009768	Broad phalanges of the hand
11	HP:0000885	Broad ribs
12	HP:0002682	Broad skull
13	HP:0000518	Cataract
14	HP:0005280	Depressed nasal bridge
15	HP:0001083	Ectopia lentis
16	HP:0000501	Glaucoma
17	HP:0011003	High myopia
18	HP:0000327	Hypoplasia of the maxilla
19	HP:0001256	Intellectual disability, mild	HP:0040284
20	HP:0001387	Joint stiffness
21	HP:0002938	Lumbar hyperlordosis
22	HP:0030961	Microspherophakia
23	HP:0001653	Mitral regurgitation
24	HP:0000189	Narrow palate
25	HP:0001643	Patent ductus arteriosus
26	HP:0003508	Proportionate short stature
27	HP:0001642	Pulmonic stenosis
28	HP:0002650	Scoliosis
29	HP:0000594	Shallow anterior chamber
30	HP:0000586	Shallow orbits
31	HP:0003416	Spinal canal stenosis
32	HP:0002753	Thin bony cortex
33	HP:0000692	Tooth malposition
34	HP:0001629	Ventricular septal defect

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
NM_030957.3(ADAMTS10):c.2098G>T (p.Gly700Cys)	81794	ADAMTS10	Pathogenic	267606637	RCV000002027;	N	MedGen:C1869114,OMIM:277600	19	8654186	8654186	NM_030957.3:c.2098G>T	NP_112219.3:p.Gly700Cys	NC_000019.9:g.8654186C>A	OMIM Allelic Variant:608990.0007	C1869114 277600 Weill-Marchesani syndrome 1
NM_030957.3(ADAMTS10):c.1553G>A (p.Gly518Asp)	81794	ADAMTS10	Pathogenic	267606636	RCV000002026;	N	MedGen:C1869114,OMIM:277600	19	8657681	8657681	NM_030957.3:c.1553G>A	NP_112219.3:p.Gly518Asp	NC_000019.9:g.8657681C>T	OMIM Allelic Variant:608990.0006	C1869114 277600 Weill-Marchesani syndrome 1
NM_030957.3(ADAMTS10):c.1190+1G>A	81794	ADAMTS10	Pathogenic	431825170	RCV000002022;	N	MedGen:C1869114,OMIM:277600	19	8661190	8661190	NM_030957.3:c.1190+1G>A		NC_000019.9:g.8661190C>T	OMIM Allelic Variant:608990.0002	C1869114 277600 Weill-Marchesani syndrome 1
NM_030957.3(ADAMTS10):c.952C>T (p.Gln318Ter)	81794	ADAMTS10	Pathogenic	121434359	RCV000002025;	N	MedGen:C1869114,OMIM:277600	19	8661959	8661959	NM_030957.3:c.952C>T	NP_112219.3:p.Gln318Ter	NC_000019.9:g.8661959G>A	OMIM Allelic Variant:608990.0005	C1869114 277600 Weill-Marchesani syndrome 1
NM_030957.3(ADAMTS10):c.810+1G>A	81794	ADAMTS10	Pathogenic	387906266	RCV000002023;	N	MedGen:C1869114,OMIM:277600	19	8665811	8665811	NM_030957.3:c.810+1G>A		NC_000019.9:g.8665811C>T	OMIM Allelic Variant:608990.0003	C1869114 277600 Weill-Marchesani syndrome 1
NM_030957.3(ADAMTS10):c.709C>T (p.Arg237Ter)	81794	ADAMTS10	Pathogenic	121434357	RCV000002021;	N	MedGen:C1869114,OMIM:277600	19	8665913	8665913	NM_030957.3:c.709C>T	NP_112219.3:p.Arg237Ter	NC_000019.9:g.8665913G>A	OMIM Allelic Variant:608990.0001	C1869114 277600 Weill-Marchesani syndrome 1
NM_030957.3(ADAMTS10):c.73G>A (p.Ala25Thr)	81794	ADAMTS10	Pathogenic	121434358	RCV000002024;	N	MedGen:C1869114,OMIM:277600	19	8670523	8670523	NM_030957.3:c.73G>A	NP_112219.3:p.Ala25Thr	NC_000019.9:g.8670523C>T	OMIM Allelic Variant:608990.0004	C1869114 277600 Weill-Marchesani syndrome 1
NM_000428.2(LTBP2):c.3529G>A (p.Val1177Met)	4053	LTBP2	Pathogenic	137854856	RCV000114810; RCV000030740;	N	MedGen:C1869114,OMIM:277600; MedGen:C3553785,OMIM:614819	14	74975430	74975430	NM_000428.2:c.3529G>A	NP_000419.1:p.Val1177Met	NC_000014.8:g.74975430C>T	OMIM Allelic Variant:602091.0012	C1869114 277600 Weill-Marchesani syndrome 1; C3553785 614819 Weill-Marchesani syndrome 3