WZS
MCID: WSS003
MIFTS: 41

Weissenbacher-Zweymuller Syndrome (WZS) malady

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

Aliases & Classifications for Weissenbacher-Zweymuller Syndrome

Aliases & Descriptions for Weissenbacher-Zweymuller Syndrome:

Name: Weissenbacher-Zweymuller Syndrome 54 50 24 13 52 12 50 25
Pierre Robin Syndrome with Fetal Chondrodysplasia 50 24 25 66 69
Wzs 50 25 66
Heterozygous Otospondylomegaepiphyseal Dysplasia 25 56
Weissenbacher- Zweymuller Syndrome 56 29
Heterozygous Osmed 25 56
Pierre Robin Sequence-Fetal Chondrodysplasia Syndrome 56
Pierre Robin Syndrome-Fetal Chondrodysplasia Syndrome 56
Weissenbacher-Zweymueller Syndrome 66
Pierre Robin Malformation 12
Pierre Robin Syndrome 42
Piere-Robin Syndrome 12

Characteristics:

Orphanet epidemiological data:

56
weissenbacher- zweymuller syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

HPO:

32
weissenbacher-zweymuller syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 277610
Disease Ontology 12 DOID:4258
ICD10 33 Q87.0
NCIt 47 C85010
Orphanet 56 ORPHA3450
ICD10 via Orphanet 34 Q77.7
MedGen 40 C1848488
UMLS 69 C0031900

Summaries for Weissenbacher-Zweymuller Syndrome

UniProtKB/Swiss-Prot : 66 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.

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 hypertelorism, depressed nasal bridge and cleft palate. An important gene associated with Weissenbacher-Zweymuller Syndrome is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and Focal Adhesion. Affiliated tissues include bone, and related phenotype is hearing/vestibular/ear.

Disease Ontology : 12 An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities.

Description from OMIM: 277610

Related Diseases for Weissenbacher-Zweymuller Syndrome

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

(show all 48)
id Related Disease Score Top Affiliating Genes
1 pierre robin syndrome 12.5
2 pierre robin syndrome and oligodactyly 12.0
3 pierre robin syndrome skeletal dysplasia polydactyly 12.0
4 contractures-developmental delay-pierre robin syndrome 12.0
5 catel-manzke syndrome 11.5
6 tarp syndrome 11.3
7 isolated pierre robin sequence 11.1
8 robin sequence with cleft mandible and limb anomalies 11.0
9 chitayat meunier hodgkinson syndrome 11.0
10 stickler syndrome, type iii 11.0
11 pierre robin sequence with facial and digital anomalies 11.0
12 robin sequence with distinctive facial appearance and brachydactyly 11.0
13 diamond-blackfan anemia 13 11.0
14 diamond-blackfan anemia 4 11.0
15 diamond-blackfan anemia 11 11.0
16 diamond-blackfan anemia 7 11.0
17 diamond-blackfan anemia 6 11.0
18 diamond blackfan anemia 15 with mandibulofacial dysostosis 11.0
19 diamond-blackfan anemia 1 11.0
20 diamond-blackfan anemia 8 11.0
21 diamond-blackfan anemia 12 11.0
22 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.0
23 diamond-blackfan anemia 5 11.0
24 hypoglossia-hypodactylia 11.0
25 diamond-blackfan anemia 9 11.0
26 diamond-blackfan anemia 3 11.0
27 diamond-blackfan anemia 10 11.0
28 laryngitis 10.2
29 otospondylomegaepiphyseal dysplasia 10.2
30 oto-palatal-digital syndrome 9.9 COL11A2 COL2A1
31 deafness, autosomal recessive 53 9.9 COL11A2 COL2A1
32 stickler syndrome 9.9
33 nasopharyngitis 9.9
34 hypothyroidism 9.9
35 dysostosis 9.9
36 astrocytoma 9.9
37 teratoma 9.9
38 caudal regression syndrome 9.9
39 cleft lip 9.9
40 congenital hepatic fibrosis 9.9
41 nasopharyngeal teratoma 9.9
42 hepatitis 9.9
43 congenital hypothyroidism 9.9
44 deafness, autosomal dominant 13 9.9 COL11A2 COL2A1
45 laryngomalacia 9.8 COL11A2 COL2A1
46 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 9.8 COL11A2 COL2A1
47 charcot-marie-tooth disease type 5 9.8 COL11A2 COL2A1
48 slti salem syndrome 9.7 COL11A2 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

Symptoms by clinical synopsis from OMIM:

277610

Clinical features from OMIM:

277610

Human phenotypes related to Weissenbacher-Zweymuller Syndrome:

56 32 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
2 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
3 cleft palate 56 32 Very frequent (99-80%) HP:0000175
4 micrognathia 56 32 Very frequent (99-80%) HP:0000347
5 rhizomelia 56 32 Very frequent (99-80%) HP:0008905
6 proptosis 56 32 Very frequent (99-80%) HP:0000520
7 coronal cleft vertebrae 56 32 Very frequent (99-80%) HP:0003417
8 muscular hypotonia 56 Very frequent (99-80%)
9 global developmental delay 32 HP:0001263
10 delayed speech and language development 56 Very frequent (99-80%)
11 sensorineural hearing impairment 32 HP:0000407
12 glossoptosis 56 Very frequent (99-80%)
13 attention deficit hyperactivity disorder 56 Very frequent (99-80%)
14 myopia 56 Very frequent (99-80%)
15 conductive hearing impairment 56 Very frequent (99-80%)
16 abnormality of pelvic girdle bone morphology 32 HP:0002644
17 hyperactivity 56 Very frequent (99-80%)
18 delayed gross motor development 56 Very frequent (99-80%)
19 abnormality of the mandible 56 Very frequent (99-80%)
20 pierre-robin sequence 32 HP:0000201
21 enlarged epiphyses 32 HP:0010580
22 short femur 56 Very frequent (99-80%)
23 dumbbell-shaped long bone 32 HP:0000947
24 metaphyseal widening 56 Very frequent (99-80%)
25 mild neurosensory hearing impairment 56 Very frequent (99-80%)
26 muscular hypotonia of the trunk 56 Very frequent (99-80%)
27 submucous cleft soft palate 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Weissenbacher-Zweymuller Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 COL11A2 COL2A1

Drugs & Therapeutics for Weissenbacher-Zweymuller Syndrome

Search Clinical Trials , NIH Clinical Center for Weissenbacher-Zweymuller Syndrome

Cochrane evidence based reviews: pierre robin syndrome

Genetic Tests for Weissenbacher-Zweymuller Syndrome

Genetic tests related to Weissenbacher-Zweymuller Syndrome:

id Genetic test Affiliating Genes
1 Weissenbacher-Zweymuller Syndrome 29 24 COL11A2

Anatomical Context for Weissenbacher-Zweymuller Syndrome

MalaCards organs/tissues related to Weissenbacher-Zweymuller Syndrome:

39
Bone

Publications for Weissenbacher-Zweymuller Syndrome

Articles related to Weissenbacher-Zweymuller Syndrome:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 COL11A2 p.Gly1441Glu VAR_013595 rs121912946

ClinVar genetic disease variations for Weissenbacher-Zweymuller Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COL11A2 NM_080680.2(COL11A2): c.4322G> A (p.Gly1441Glu) single nucleotide variant Pathogenic rs121912946 GRCh37 Chromosome 6, 33134513: 33134513

Expression for Weissenbacher-Zweymuller Syndrome

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

Pathways for Weissenbacher-Zweymuller Syndrome

GO Terms for Weissenbacher-Zweymuller Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.16 COL11A2 COL2A1
2 endoplasmic reticulum lumen GO:0005788 8.96 COL11A2 COL2A1
3 collagen trimer GO:0005581 8.62 COL11A2 COL2A1

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

id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.48 COL11A2 COL2A1
2 sensory perception of sound GO:0007605 9.46 COL11A2 COL2A1
3 ossification GO:0001503 9.43 COL11A2 COL2A1
4 palate development GO:0060021 9.4 COL11A2 COL2A1
5 cartilage development GO:0051216 9.37 COL11A2 COL2A1
6 collagen catabolic process GO:0030574 9.32 COL11A2 COL2A1
7 skeletal system morphogenesis GO:0048705 9.26 COL11A2 COL2A1
8 chondrocyte differentiation GO:0002062 9.16 COL11A2 COL2A1
9 collagen fibril organization GO:0030199 8.96 COL11A2 COL2A1
10 tissue homeostasis GO:0001894 8.62 COL11A2 COL2A1

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 COL11A2 COL2A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL11A2 COL2A1

Sources for Weissenbacher-Zweymuller Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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