MCID: VNM004
MIFTS: 27

Van Maldergem Syndrome

Categories: Rare diseases

Aliases & Classifications for Van Maldergem Syndrome

MalaCards integrated aliases for Van Maldergem Syndrome:

Name: Van Maldergem Syndrome 12 53 37 15 15 15 15 15 15 15 15
Van Maldergem Wetzburger Verloes Syndrome 53 44 40 73
Cerebro-Facio-Articular Syndrome 12 53
Cerebro-Facio-Articular Syndrome of Van Maldergem 53
Cerebro Facio Articular Syndrome 76
Cerebrofacioarticular Syndrome 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0060238
MeSH 44 C536530
KEGG 37 H01393
UMLS 73 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 S-1P Stimulated Signaling and O-glycosylation of TSR domain-containing proteins. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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.

Wikipedia : 76 Pashayan syndrome, also known as Pashayan–Prozansky Syndrome and blepharo-naso-facial syndrome, is a... more...

Related Diseases for Van Maldergem Syndrome

Diseases related to Van Maldergem Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 van maldergem syndrome 1 34.0 DCHS1 FAT4
2 hennekam syndrome 25.5 ADAMTS2 ADAMTS3 CCBE1 CDH17 DCHS1 EGF
3 van maldergem syndrome 2 12.5
4 hypogonadotropic hypogonadism 10.0
5 hypogonadism 10.0
6 hypogonadotropism 10.0
7 neuronitis 10.0
8 renal hypoplasia 10.0 DCHS1 FAT4
9 periventricular nodular heterotopia 9.7 DCHS1 FAT4
10 lymphedema 9.5 ADAMTS3 CCBE1 FAT4

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



Diseases related to Van Maldergem Syndrome

Symptoms & Phenotypes for Van Maldergem Syndrome

GenomeRNAi Phenotypes related to Van Maldergem Syndrome according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.6 DCHS1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.6 DCHS2 FAT4 DCHS1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.6 DCHS1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.6 DCHS2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.6 DCHS1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.6 DCHS2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.6 DCHS2 DCHS1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.6 DCHS2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.6 FAT4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.6 DCHS2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.6 DCHS1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.6 FAT4
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.6 DCHS2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.6 FAT4
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.6 FAT4
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.6 DCHS2

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

Publications for Van Maldergem Syndrome

Articles related to Van Maldergem Syndrome:

# Title Authors Year
1
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes. ( 29681106 )
2018
2
A newborn diagnosed with van Maldergem syndrome. ( 29505454 )
2018
3
Middle ear abnormalities in Van Maldergem syndrome. ( 27739185 )
2017
4
A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia. ( 29046692 )
2017
5
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. ( 24913602 )
2014
6
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance. ( 22473091 )
2012
7
A further patient with van Maldergem syndrome. ( 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 11.11 CDH17 DCHS1 EGF
2
Show member pathways
11.04 ADAMTS2 ADAMTS3
3 10.26 DCHS1 DCHS2 FAT4

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 8.62 DCHS1 FAT4

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.67 CDH17 DCHS1 DCHS2 FAT4
2 kidney development GO:0001822 9.58 DCHS1 FAT4
3 lung development GO:0030324 9.57 ADAMTS2 CCBE1
4 protein processing GO:0016485 9.56 ADAMTS2 ADAMTS3
5 neurogenesis GO:0022008 9.55 DCHS1 FAT4
6 collagen catabolic process GO:0030574 9.54 ADAMTS2 ADAMTS3
7 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.52 DCHS1 FAT4
8 heart morphogenesis GO:0003007 9.51 DCHS1 FAT4
9 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.49 CDH17 DCHS1
10 branching involved in ureteric bud morphogenesis GO:0001658 9.48 DCHS1 FAT4
11 collagen fibril organization GO:0030199 9.46 ADAMTS2 ADAMTS3
12 digestive tract development GO:0048565 9.43 DCHS1 FAT4
13 hippo signaling GO:0035329 9.4 DCHS1 FAT4
14 nephron development GO:0072006 9.32 DCHS1 FAT4
15 ossification involved in bone maturation GO:0043931 9.26 DCHS1 FAT4
16 positive regulation of vascular endothelial growth factor signaling pathway GO:1900748 9.16 ADAMTS3 CCBE1
17 condensed mesenchymal cell proliferation GO:0072137 8.96 DCHS1 FAT4
18 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 8.92 CDH17 DCHS1 DCHS2 FAT4

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 CCBE1 CDH17 DCHS1 DCHS2 EGF FAT4
2 metalloendopeptidase activity GO:0004222 8.96 ADAMTS2 ADAMTS3

Sources for Van Maldergem Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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