MCID: WSS003
MIFTS: 42

Weissenbacher-Zweymuller Syndrome malady

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

Aliases & Classifications for Weissenbacher-Zweymuller Syndrome

About this section

Aliases & Descriptions for Weissenbacher-Zweymuller Syndrome:

Name: Weissenbacher-Zweymuller Syndrome 50 46 23 12 48
Pierre Robin Syndrome with Fetal Chondrodysplasia 46 23 24 68 66
Weissenbacher-Zweymüller Syndrome 11 69 46 24
Wzs 46 24 68
Heterozygous Otospondylomegaepiphyseal Dysplasia 24 52
Weissenbacher- Zweymuller Syndrome 52 25
Heterozygous Osmed 24 52
 
Pierre Robin Sequence-Fetal Chondrodysplasia Syndrome 52
Pierre Robin Syndrome-Fetal Chondrodysplasia Syndrome 52
Weissenbacher-Zweymueller Syndrome 68
Pierre Robin Malformation 11
Pierre Robin Syndrome 37
Piere-Robin Syndrome 11

Characteristics:

Orphanet epidemiological data:

52
heterozygous otospondylomegaepiphyseal dysplasia:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

62
weissenbacher-zweymuller syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 277610
Disease Ontology11 DOID:4258
ICD1028 Q87.0
NCIt43 C85010
Orphanet52 ORPHA3450
ICD10 via Orphanet29 Q77.7
MedGen35 C1848488

Summaries for Weissenbacher-Zweymuller Syndrome

About this section
Genetics Home Reference:24 Weissenbacher-Zweymüller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. The features of this condition significantly overlap those of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler syndrome type III. All of these conditions are caused by mutations in the same gene, and in some cases, it can be difficult to tell them apart. Some researchers believe they represent a single disorder with a range of signs and symptoms.

MalaCards based summary: Weissenbacher-Zweymuller Syndrome, also known as pierre robin syndrome with fetal chondrodysplasia, is related to pierre robin syndrome and pierre robin syndrome and oligodactyly, and has symptoms including cleft palate, pierre-robin sequence and hypertelorism. An important gene associated with Weissenbacher-Zweymuller Syndrome is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways are Focal Adhesion and Phospholipase-C Pathway. Affiliated tissues include bone, and related mouse phenotype hearing/vestibular/ear.

Disease Ontology:11 An osteochondrodysplasia that results in shortened long bones and distinct facial abnormalities.

UniProtKB/Swiss-Prot:68 Weissenbacher-Zweymueller syndrome: An autosomal dominant disorder characterized by neonatal micrognathia and rhizomelic chondrodysplasia with dumbbell-shaped femora and humeri, and regression of bone changes and normal growth in later years. WZS is also referred to as heterozygous OSMED.

Description from OMIM:50 277610

Related Diseases for Weissenbacher-Zweymuller Syndrome

About this section

Diseases related to Weissenbacher-Zweymuller Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1pierre robin syndrome12.5
2pierre robin syndrome and oligodactyly12.2
3pierre robin syndrome skeletal dysplasia polydactyly12.1
4contractures-developmental delay-pierre robin syndrome12.1
5catel-manzke syndrome11.7
6tarp syndrome11.5
7isolated pierre robin sequence11.3
8stickler syndrome, type iii11.2
9robin sequence with cleft mandible and limb anomalies11.1
10pierre robin sequence with facial and digital anomalies11.1
11robin sequence with distinctive facial appearance and brachydactyly11.1
12chitayat meunier hodgkinson syndrome11.1
13laryngitis10.3
14otospondylomegaepiphyseal dysplasia10.3
15diamond-blackfan anemia 710.1
16diamond-blackfan anemia 610.1
17diamond-blackfan anemia 810.1
18diamond-blackfan anemia 1210.1
19diamond-blackfan anemia 510.1
20diamond-blackfan anemia 910.1
21diamond-blackfan anemia 310.1
22diamond-blackfan anemia 1010.1
23diamond-blackfan anemia 1310.1
24diamond-blackfan anemia 410.1
25diamond-blackfan anemia 1110.1
26diamond blackfan anemia 15 with mandibulofacial dysostosis10.1
27diamond-blackfan anemia 110.1
28diamond-blackfan anemia 14 with mandibulofacial dysostosis10.1
29hypoglossia-hypodactylia10.1
30caudal regression syndrome10.0
31hepatitis10.0
32congenital hypothyroidism10.0
33stickler syndrome10.0
34nasopharyngitis10.0
35hypothyroidism10.0
36astrocytoma10.0
37teratoma10.0
38cleft lip10.0
39choanal atresia10.0
40congenital hepatic fibrosis10.0
41nasopharyngeal teratoma10.0
42deafness, autosomal dominant 139.6COL11A2, COL2A1
43weissenbacher-zweymuller syndrome9.6COL11A2, COL2A1
44laryngomalacia9.5COL11A2, COL2A1
45myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.5COL11A2, COL2A1
46alveolar soft-part sarcoma9.4COL11A2, COL2A1
47albright's hereditary osteodystrophy9.2COL11A2, COL2A1

Graphical network of the top 20 diseases related to Weissenbacher-Zweymuller Syndrome:



Diseases related to weissenbacher-zweymuller syndrome

Symptoms for Weissenbacher-Zweymuller Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

277610

Clinical features from OMIM:

277610

HPO human phenotypes related to Weissenbacher-Zweymuller Syndrome:

(show all 13)
id Description Frequency HPO Source Accession
1 cleft palate HP:0000175
2 pierre-robin sequence HP:0000201
3 hypertelorism HP:0000316
4 micrognathia HP:0000347
5 sensorineural hearing impairment HP:0000407
6 proptosis HP:0000520
7 dumbbell-shaped long bone HP:0000947
8 global developmental delay HP:0001263
9 abnormality of pelvic girdle bone morphology HP:0002644
10 coronal cleft vertebrae HP:0003417
11 depressed nasal bridge HP:0005280
12 rhizomelia HP:0008905
13 enlarged epiphyses HP:0010580

Drugs & Therapeutics for Weissenbacher-Zweymuller Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Weissenbacher-Zweymuller Syndrome


Cochrane evidence based reviews: pierre robin syndrome

Genetic Tests for Weissenbacher-Zweymuller Syndrome

About this section

Genetic tests related to Weissenbacher-Zweymuller Syndrome:

id Genetic test Affiliating Genes
1 Weissenbacher-Zweymuller Syndrome25 23 COL11A2

Anatomical Context for Weissenbacher-Zweymuller Syndrome

About this section

MalaCards organs/tissues related to Weissenbacher-Zweymuller Syndrome:

34
Bone

Animal Models for Weissenbacher-Zweymuller Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Weissenbacher-Zweymuller Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1COL11A2, COL2A1

Publications for Weissenbacher-Zweymuller Syndrome

About this section

Articles related to Weissenbacher-Zweymuller Syndrome:

idTitleAuthorsYear
1
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). (15558753)
2005
2
The ocular manifestations of Weissenbacher-Zweymuller syndrome. (15044941)
2004
3
Weissenbacher-Zweymuller syndrome: long-term follow-up of growth and psychomotor development. (1723388)
1991
4
The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth. (813535)
1975

Variations for Weissenbacher-Zweymuller Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Weissenbacher-Zweymuller Syndrome:

68
id Symbol AA change Variation ID SNP ID
1COL11A2p.Gly1441GluVAR_013595rs121912946

Clinvar genetic disease variations for Weissenbacher-Zweymuller Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL11A2NM_080680.2(COL11A2): c.4322G> A (p.Gly1441Glu)single nucleotide variantPathogenicrs121912946GRCh37Chr 6, 33134513: 33134513

Expression for genes affiliated with Weissenbacher-Zweymuller Syndrome

About this section
Search GEO for disease gene expression data for Weissenbacher-Zweymuller Syndrome.

Pathways for genes affiliated with Weissenbacher-Zweymuller Syndrome

About this section

GO Terms for genes affiliated with Weissenbacher-Zweymuller Syndrome

About this section

Cellular components related to Weissenbacher-Zweymuller Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen trimerGO:00055819.2COL11A2, COL2A1
2endoplasmic reticulum lumenGO:00057889.1COL11A2, COL2A1

Biological processes related to Weissenbacher-Zweymuller Syndrome according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1skeletal system morphogenesisGO:00487059.6COL11A2, COL2A1
2tissue homeostasisGO:00018949.5COL11A2, COL2A1
3collagen catabolic processGO:00305749.5COL11A2, COL2A1
4chondrocyte differentiationGO:00020629.5COL11A2, COL2A1
5cartilage developmentGO:00512169.3COL11A2, COL2A1
6sensory perception of soundGO:00076059.3COL11A2, COL2A1
7collagen fibril organizationGO:00301999.1COL11A2, COL2A1
8ossificationGO:00015039.1COL11A2, COL2A1
9palate developmentGO:00600219.0COL11A2, COL2A1
10skeletal system developmentGO:00015018.8COL11A2, COL2A1

Molecular functions related to Weissenbacher-Zweymuller Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituent conferring tensile strengthGO:00300209.1COL11A2, COL2A1

Sources for Weissenbacher-Zweymuller Syndrome

About this section
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