MCID: VNM004
MIFTS: 30

Van Maldergem Syndrome

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Van Maldergem Syndrome

MalaCards integrated aliases for Van Maldergem Syndrome:

Name: Van Maldergem Syndrome 12 53 37 15
Van Maldergem Wetzburger Verloes Syndrome 53 44 40 72
Cerebro-Facio-Articular Syndrome 12 53
Cerebro-Facio-Articular Syndrome of Van Maldergem 53
Cerebro Facio Articular Syndrome 75
Cerebrofacioarticular Syndrome 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0060238
KEGG 37 H01393
MeSH 44 C536530
UMLS 72 C1832390

Summaries for Van Maldergem Syndrome

NIH Rare Diseases : 53 Cerebro-facio-articular syndrome, which is also known as van Maldergem syndrome, is a rare condition that was first described in 1992. Key features of the condition include characteristic facial features, hand abnormalities, moderate to severe intellectual disability, poor muscle tone and joint hyperlaxity. Cerebro-facio-articular syndrome can be caused by changes (mutations) in the DCHS1 or FAT4 genes and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Van Maldergem Syndrome, also known as van maldergem wetzburger verloes syndrome, is related to van maldergem syndrome 1 and hennekam syndrome. An important gene associated with Van Maldergem Syndrome is FAT4 (FAT Atypical Cadherin 4), and among its related pathways/superpathways are O-glycosylation of TSR domain-containing proteins and Hippo signaling pathway - multiple species. Affiliated tissues include breast, and related phenotype is skeleton.

Disease Ontology : 12 A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation.

KEGG : 37
Van Maldergem syndrome (VMS) is an autosomal-recessive disorder characterized by intellectual disability, hypotonia, distinctive combination of minor facial anomalies, finger camptodactyly, and joint hyperlaxity. Biallelic mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 result in VMS.

Wikipedia : 75 Pashayan syndrome, also known as Pashayan-Prozansky Syndrome and blepharo-naso-facial syndrome, is a... more...

Related Diseases for Van Maldergem Syndrome

Graphical network of the top 20 diseases related to Van Maldergem Syndrome:



Diseases related to Van Maldergem Syndrome

Symptoms & Phenotypes for Van Maldergem Syndrome

MGI Mouse Phenotypes related to Van Maldergem Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.02 ADAMTS2 ADAMTS3 DCHS1 FAT4 RUNX2

Drugs & Therapeutics for Van Maldergem Syndrome

Search Clinical Trials , NIH Clinical Center for Van Maldergem Syndrome

Cochrane evidence based reviews: van maldergem wetzburger verloes syndrome

Genetic Tests for Van Maldergem Syndrome

Anatomical Context for Van Maldergem Syndrome

MalaCards organs/tissues related to Van Maldergem Syndrome:

41
Breast

Publications for Van Maldergem Syndrome

Articles related to Van Maldergem Syndrome:

(show all 16)
# Title Authors PMID Year
1
Intestinal lymphangiectasia-A novel finding in Van Maldergem syndrome challenging the role of lymphedema for the distinction from Hennekam syndrome. 38
31063239 2019
2
Dchs1-Fat4 regulation of osteogenic differentiation in mouse. 38
31358536 2019
3
Coexistence of genetic conditions: exploring a possible relationship. 38
31384091 2019
4
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes. 38
29681106 2018
5
A newborn diagnosed with van Maldergem syndrome. 38
29505454 2018
6
Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report. 38
28878612 2017
7
Neuron-specific knockdown of the Drosophila fat induces reduction of life span, deficient locomotive ability, shortening of motoneuron terminal branches and defects in axonal targeting. 38
28488382 2017
8
Middle ear abnormalities in Van Maldergem syndrome. 38
27739185 2017
9
A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia. 38
29046692 2017
10
Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture. 38
25930014 2016
11
Dachsous1b cadherin regulates actin and microtubule cytoskeleton during early zebrafish embryogenesis. 38
26160902 2015
12
Original Solution for Middle Ear Implant and Anesthetic/Surgical Management in a Child with Severe Craniofacial Dysmorphism. 38
26491591 2015
13
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. 38
24913602 2014
14
Regulation of neuronal migration by Dchs1-Fat4 planar cell polarity. 38
24998526 2014
15
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance. 38
22473091 2012
16
A further patient with van Maldergem syndrome. 38
22469822 2012

Variations for Van Maldergem Syndrome

Expression for Van Maldergem Syndrome

Search GEO for disease gene expression data for Van Maldergem Syndrome.

Pathways for Van Maldergem Syndrome

Pathways related to Van Maldergem Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.84 ADAMTS3 ADAMTS2
2 10.26 FAT4 DCHS2 DCHS1

GO Terms for Van Maldergem Syndrome

Cellular components related to Van Maldergem Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical part of cell GO:0045177 8.96 FAT4 DCHS1
2 extracellular matrix GO:0031012 8.8 CCBE1 ADAMTS3 ADAMTS2

Biological processes related to Van Maldergem Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 lung development GO:0030324 9.57 CCBE1 ADAMTS2
2 neurogenesis GO:0022008 9.56 FAT4 DCHS1
3 protein processing GO:0016485 9.55 ADAMTS3 ADAMTS2
4 cell adhesion GO:0007155 9.55 PCDH11X FAT4 DCHS2 DCHS1 CDH17
5 heart morphogenesis GO:0003007 9.54 FAT4 DCHS1
6 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.52 DCHS1 CDH17
7 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.51 FAT4 DCHS1
8 collagen fibril organization GO:0030199 9.49 ADAMTS3 ADAMTS2
9 branching involved in ureteric bud morphogenesis GO:0001658 9.48 FAT4 DCHS1
10 collagen catabolic process GO:0030574 9.46 ADAMTS3 ADAMTS2
11 digestive tract development GO:0048565 9.43 FAT4 DCHS1
12 hippo signaling GO:0035329 9.4 FAT4 DCHS1
13 ossification involved in bone maturation GO:0043931 9.37 FAT4 DCHS1
14 nephron development GO:0072006 9.32 FAT4 DCHS1
15 positive regulation of vascular endothelial growth factor signaling pathway GO:1900748 9.26 CCBE1 ADAMTS3
16 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.02 PCDH11X FAT4 DCHS2 DCHS1 CDH17
17 condensed mesenchymal cell proliferation GO:0072137 8.96 FAT4 DCHS1

Molecular functions related to Van Maldergem Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.1 PCDH11X FAT4 DCHS2 DCHS1 CDH17 CCBE1

Sources for Van Maldergem Syndrome

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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