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 52 48 24 12 50
Pierre Robin Syndrome with Fetal Chondrodysplasia 48 24 25 70 68
Weissenbacher-Zweymüller Syndrome 11 71 48 25
Wzs 48 25 70
Heterozygous Otospondylomegaepiphyseal Dysplasia 25 54
Weissenbacher- Zweymuller Syndrome 54 27
Heterozygous Osmed 25 54
 
Pierre Robin Sequence-Fetal Chondrodysplasia Syndrome 54
Pierre Robin Syndrome-Fetal Chondrodysplasia Syndrome 54
Weissenbacher-Zweymueller Syndrome 70
Pierre Robin Malformation 11
Pierre Robin Syndrome 39
Piere-Robin Syndrome 11

Characteristics:

Orphanet epidemiological data:

54
heterozygous otospondylomegaepiphyseal dysplasia:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

64
weissenbacher-zweymuller syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 277610
Disease Ontology11 DOID:4258
ICD1030 Q87.0
NCIt45 C85010
Orphanet54 ORPHA3450
ICD10 via Orphanet31 Q77.7
MedGen37 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:70 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:52 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 & Phenotypes 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:

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 cleft palate64 HP:0000175
2 pierre-robin sequence64 HP:0000201
3 hypertelorism64 HP:0000316
4 micrognathia64 HP:0000347
5 sensorineural hearing impairment64 HP:0000407
6 proptosis64 HP:0000520
7 dumbbell-shaped long bone64 HP:0000947
8 global developmental delay64 HP:0001263
9 abnormality of pelvic girdle bone morphology64 HP:0002644
10 coronal cleft vertebrae64 HP:0003417
11 depressed nasal bridge64 HP:0005280
12 rhizomelia64 HP:0008905
13 enlarged epiphyses64 HP:0010580

MGI Mouse Phenotypes related to Weissenbacher-Zweymuller Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1COL11A2, COL2A1

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 Syndrome27 24 COL11A2

Anatomical Context for Weissenbacher-Zweymuller Syndrome

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MalaCards organs/tissues related to Weissenbacher-Zweymuller Syndrome:

36
Bone

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:

70
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:00055819.7COL11A2, 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
1cartilage developmentGO:00512169.8COL11A2, COL2A1
2chondrocyte differentiationGO:00020629.8COL11A2, COL2A1
3collagen catabolic processGO:00305749.8COL11A2, COL2A1
4collagen fibril organizationGO:00301999.8COL11A2, COL2A1
5ossificationGO:00015039.8COL11A2, COL2A1
6palate developmentGO:00600219.8COL11A2, COL2A1
7sensory perception of soundGO:00076059.7COL11A2, COL2A1
8skeletal system developmentGO:00015019.6COL11A2, COL2A1
9skeletal system morphogenesisGO:00487059.5COL11A2, COL2A1
10tissue homeostasisGO:00018949.1COL11A2, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet