MCID: WLL027
MIFTS: 28

Weill-Marchesani Syndrome 1, Recessive malady

Categories: Genetic diseases, Eye diseases, Fetal diseases, Rare diseases, Skin diseases, Bone diseases

Aliases & Classifications for Weill-Marchesani Syndrome 1, Recessive

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Aliases & Descriptions for Weill-Marchesani Syndrome 1, Recessive:

Name: Weill-Marchesani Syndrome 1, Recessive 50 12
Weill-Marchesani Syndrome 1 68 25
Autosomal Recessive Weill-Marchesani Syndrome 68
 
Congenital Mesodermal Dysmorphodystrophy 68
Spherophakia-Brachymorphia Syndrome 68
Wms1 68

Characteristics:

HPO:

62
weill-marchesani syndrome 1, recessive:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 277600
MedGen35 C1869114
MeSH37 D056846

Summaries for Weill-Marchesani Syndrome 1, Recessive

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OMIM:50 Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint... (277600) more...

MalaCards based summary: Weill-Marchesani Syndrome 1, Recessive, also known as weill-marchesani syndrome 1, is related to weill-marchesani syndrome and weill-marchesani syndrome 2, dominant, and has symptoms including intellectual disability, mild, narrow palate and brachycephaly. An important gene associated with Weill-Marchesani Syndrome 1, Recessive is ADAMTS10 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 10). Affiliated tissues include eye and cortex.

UniProtKB/Swiss-Prot:68 Weill-Marchesani syndrome 1: A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.

Related Diseases for Weill-Marchesani Syndrome 1, Recessive

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Diseases in the Weill-Marchesani Syndrome family:

Weill-Marchesani Syndrome 3, Recessive Weill-Marchesani Syndrome 2, Dominant
Weill-Marchesani-Like Syndrome weill-marchesani syndrome 1, recessive
Adamts10-Related Weill-Marchesani Syndrome Fbn1-Related Weill-Marchesani Syndrome
Ltbp2-Related Weill-Marchesani Syndrome

Diseases related to Weill-Marchesani Syndrome 1, Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1weill-marchesani syndrome11.6
2weill-marchesani syndrome 2, dominant11.3
3endemic typhus9.5ADAMTS10, LTBP2
4hemolytic uremic syndrome, atypical 59.2ADAMTS10, LTBP2

Symptoms for Weill-Marchesani Syndrome 1, Recessive

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Symptoms by clinical synopsis from OMIM:

277600

Clinical features from OMIM:

277600

HPO human phenotypes related to Weill-Marchesani Syndrome 1, Recessive:

(show all 32)
id Description Frequency HPO Source Accession
1 intellectual disability, mild 11% HP:0001256
2 narrow palate HP:0000189
3 brachycephaly HP:0000248
4 hypoplasia of the maxilla HP:0000327
5 glaucoma HP:0000501
6 cataract HP:0000518
7 shallow orbits HP:0000586
8 shallow anterior chamber HP:0000594
9 blindness HP:0000618
10 misalignment of teeth HP:0000692
11 broad ribs HP:0000885
12 ectopia lentis HP:0001083
13 brachydactyly syndrome HP:0001156
14 broad palm HP:0001169
15 broad metacarpals HP:0001230
16 joint stiffness HP:0001387
17 ventricular septal defect HP:0001629
18 pulmonic stenosis HP:0001642
19 patent ductus arteriosus HP:0001643
20 aortic valve stenosis HP:0001650
21 mitral regurgitation HP:0001653
22 broad metatarsal HP:0001783
23 scoliosis HP:0002650
24 broad skull HP:0002682
25 thin bony cortex HP:0002753
26 lumbar hyperlordosis HP:0002938
27 spinal canal stenosis HP:0003416
28 proportionate short stature HP:0003508
29 depressed nasal bridge HP:0005280
30 abnormality of dental morphology HP:0006482
31 broad phalanges of the hand HP:0009768
32 severe myopia HP:0011003

UMLS symptoms related to Weill-Marchesani Syndrome 1, Recessive:


joint stiffness

Drugs & Therapeutics for Weill-Marchesani Syndrome 1, Recessive

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Weill-Marchesani Syndrome 1, Recessive

Genetic Tests for Weill-Marchesani Syndrome 1, Recessive

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Genetic tests related to Weill-Marchesani Syndrome 1, Recessive:

id Genetic test Affiliating Genes
1 Weill-Marchesani Syndrome 125

Anatomical Context for Weill-Marchesani Syndrome 1, Recessive

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MalaCards organs/tissues related to Weill-Marchesani Syndrome 1, Recessive:

34
Eye, Cortex

Animal Models for Weill-Marchesani Syndrome 1, Recessive or affiliated genes

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Publications for Weill-Marchesani Syndrome 1, Recessive

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Variations for Weill-Marchesani Syndrome 1, Recessive

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UniProtKB/Swiss-Prot genetic disease variations for Weill-Marchesani Syndrome 1, Recessive:

68
id Symbol AA change Variation ID SNP ID
1ADAMTS10p.Ala25ThrVAR_054439

Clinvar genetic disease variations for Weill-Marchesani Syndrome 1, Recessive:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ADAMTS10NM_030957.3(ADAMTS10): c.709C> T (p.Arg237Ter)single nucleotide variantPathogenicrs121434357GRCh37Chr 19, 8665913: 8665913
2ADAMTS10NM_030957.3(ADAMTS10): c.1190+1G> Asingle nucleotide variantPathogenicrs431825170GRCh37Chr 19, 8661190: 8661190
3ADAMTS10NM_030957.3(ADAMTS10): c.810+1G> Asingle nucleotide variantPathogenicrs387906266GRCh37Chr 19, 8665811: 8665811
4ADAMTS10NM_030957.3(ADAMTS10): c.73G> A (p.Ala25Thr)single nucleotide variantPathogenicrs121434358GRCh37Chr 19, 8670523: 8670523
5ADAMTS10NM_030957.3(ADAMTS10): c.952C> T (p.Gln318Ter)single nucleotide variantPathogenicrs121434359GRCh37Chr 19, 8661959: 8661959
6ADAMTS10NM_030957.3(ADAMTS10): c.1553G> A (p.Gly518Asp)single nucleotide variantPathogenicrs267606636GRCh37Chr 19, 8657681: 8657681
7ADAMTS10NM_030957.3(ADAMTS10): c.2098G> T (p.Gly700Cys)single nucleotide variantPathogenicrs267606637GRCh37Chr 19, 8654186: 8654186
8LTBP2NM_000428.2(LTBP2): c.3529G> A (p.Val1177Met)single nucleotide variantPathogenicrs137854856GRCh37Chr 14, 74975430: 74975430

Expression for genes affiliated with Weill-Marchesani Syndrome 1, Recessive

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Search GEO for disease gene expression data for Weill-Marchesani Syndrome 1, Recessive.

Pathways for genes affiliated with Weill-Marchesani Syndrome 1, Recessive

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GO Terms for genes affiliated with Weill-Marchesani Syndrome 1, Recessive

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Cellular components related to Weill-Marchesani Syndrome 1, Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:00310129.1ADAMTS10, LTBP2

Sources for Weill-Marchesani Syndrome 1, Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet