MCID: WSS003
MIFTS: 40

Weissenbacher-Zweymuller Syndrome malady

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

Aliases & Classifications for Weissenbacher-Zweymuller Syndrome

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Aliases & Descriptions for Weissenbacher-Zweymuller Syndrome:

Name: Weissenbacher-Zweymuller Syndrome 51 47 24 12 49
Pierre Robin Syndrome with Fetal Chondrodysplasia 47 24 25 69 67
Weissenbacher-Zweymüller Syndrome 11 70 47 25
Wzs 47 25 69
Heterozygous Otospondylomegaepiphyseal Dysplasia 25 53
Weissenbacher- Zweymuller Syndrome 53 26
Heterozygous Osmed 25 53
 
Pierre Robin Sequence-Fetal Chondrodysplasia Syndrome 53
Pierre Robin Syndrome-Fetal Chondrodysplasia Syndrome 53
Weissenbacher-Zweymueller Syndrome 69
Pierre Robin Malformation 11
Pierre Robin Syndrome 38
Piere-Robin Syndrome 11

Characteristics:

Orphanet epidemiological data:

53
heterozygous otospondylomegaepiphyseal dysplasia:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

63
weissenbacher-zweymuller syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 277610
Disease Ontology11 DOID:4258
ICD1029 Q87.0
NCIt44 C85010
Orphanet53 ORPHA3450
ICD10 via Orphanet30 Q77.7
MedGen36 C1848488

Summaries for Weissenbacher-Zweymuller Syndrome

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Genetics Home Reference:25 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:69 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:51 277610

Related Diseases for Weissenbacher-Zweymuller Syndrome

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

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1pierre robin syndrome12.5
2pierre robin syndrome and oligodactyly12.0
3pierre robin syndrome skeletal dysplasia polydactyly12.0
4contractures-developmental delay-pierre robin syndrome12.0
5catel-manzke syndrome11.5
6tarp syndrome11.3
7isolated pierre robin sequence11.1
8stickler syndrome, type iii11.0
9robin sequence with cleft mandible and limb anomalies11.0
10pierre robin sequence with facial and digital anomalies11.0
11robin sequence with distinctive facial appearance and brachydactyly11.0
12chitayat meunier hodgkinson syndrome11.0
13diamond-blackfan anemia 711.0
14diamond-blackfan anemia 611.0
15diamond-blackfan anemia 811.0
16diamond-blackfan anemia 1211.0
17diamond-blackfan anemia 511.0
18diamond-blackfan anemia 911.0
19diamond-blackfan anemia 311.0
20diamond-blackfan anemia 1011.0
21diamond-blackfan anemia 1311.0
22diamond-blackfan anemia 411.0
23diamond-blackfan anemia 1111.0
24diamond blackfan anemia 15 with mandibulofacial dysostosis11.0
25diamond-blackfan anemia 111.0
26diamond-blackfan anemia 14 with mandibulofacial dysostosis11.0
27hypoglossia-hypodactylia11.0
28laryngitis10.2
29otospondylomegaepiphyseal dysplasia10.2
30caudal regression syndrome9.9
31hepatitis9.9
32congenital hypothyroidism9.9
33stickler syndrome9.9
34nasopharyngitis9.9
35hypothyroidism9.9
36astrocytoma9.9
37teratoma9.9
38cleft lip9.9
39congenital hepatic fibrosis9.9
40nasopharyngeal teratoma9.9
41deafness, autosomal dominant 139.6COL11A2, COL2A1
42laryngomalacia9.5COL11A2, COL2A1
43alveolar soft-part sarcoma9.5COL11A2, COL2A1
44myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.3COL11A2, COL2A1

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



Diseases related to weissenbacher-zweymuller syndrome

Symptoms for Weissenbacher-Zweymuller Syndrome

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Symptoms by clinical synopsis from OMIM:

277610

Clinical features from OMIM:

277610

Human phenotypes related to Weissenbacher-Zweymuller Syndrome:

 63 (show all 13)
id Description HPO Frequency HPO Source Accession
1 cleft palate63 HP:0000175
2 pierre-robin sequence63 HP:0000201
3 hypertelorism63 HP:0000316
4 micrognathia63 HP:0000347
5 sensorineural hearing impairment63 HP:0000407
6 proptosis63 HP:0000520
7 dumbbell-shaped long bone63 HP:0000947
8 global developmental delay63 HP:0001263
9 abnormality of pelvic girdle bone morphology63 HP:0002644
10 coronal cleft vertebrae63 HP:0003417
11 depressed nasal bridge63 HP:0005280
12 rhizomelia63 HP:0008905
13 enlarged epiphyses63 HP:0010580

Drugs & Therapeutics for Weissenbacher-Zweymuller Syndrome

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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

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Genetic tests related to Weissenbacher-Zweymuller Syndrome:

id Genetic test Affiliating Genes
1 Weissenbacher-Zweymuller Syndrome26 24 COL11A2

Anatomical Context for Weissenbacher-Zweymuller Syndrome

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MalaCards organs/tissues related to Weissenbacher-Zweymuller Syndrome:

35
Bone

Animal Models for Weissenbacher-Zweymuller Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Weissenbacher-Zweymuller Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1COL11A2, COL2A1

Publications for Weissenbacher-Zweymuller Syndrome

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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

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

69
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)SNVPathogenicrs121912946GRCh37Chr 6, 33134513: 33134513

Expression for genes affiliated with Weissenbacher-Zweymuller Syndrome

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

Pathways for genes affiliated with Weissenbacher-Zweymuller Syndrome

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GO Terms for genes affiliated with Weissenbacher-Zweymuller Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1collagen trimerGO:00055819.3COL11A2, 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
3chondrocyte differentiationGO:00020629.5COL11A2, COL2A1
4collagen catabolic processGO:00305749.5COL11A2, COL2A1
5cartilage developmentGO:00512169.4COL11A2, COL2A1
6ossificationGO:00015039.3COL11A2, COL2A1
7palate developmentGO:00600219.2COL11A2, COL2A1
8skeletal system developmentGO:00015019.1COL11A2, COL2A1
9sensory perception of soundGO:00076059.1COL11A2, COL2A1
10collagen fibril organizationGO:00301998.8COL11A2, 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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet