VMLDS2
MCID: VNM002
MIFTS: 19

Van Maldergem Syndrome 2 (VMLDS2) malady

Categories: Genetic diseases

Aliases & Classifications for Van Maldergem Syndrome 2

Aliases & Descriptions for Van Maldergem Syndrome 2:

Name: Van Maldergem Syndrome 2 54 24 66 29 69
Vmlds2 24 66

Characteristics:

HPO:

32
van maldergem syndrome 2:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 54 615546

Summaries for Van Maldergem Syndrome 2

OMIM : 54 Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical... (615546) more...

MalaCards based summary : Van Maldergem Syndrome 2, also known as vmlds2, is related to van maldergem syndrome 1, and has symptoms including joint laxity, malar flattening and hypertelorism. An important gene associated with Van Maldergem Syndrome 2 is FAT4 (FAT Atypical Cadherin 4). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 66 Van Maldergem syndrome 2: An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia.

Related Diseases for Van Maldergem Syndrome 2

Diseases related to Van Maldergem Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 van maldergem syndrome 1 10.9

Symptoms & Phenotypes for Van Maldergem Syndrome 2

Symptoms by clinical synopsis from OMIM:

615546

Clinical features from OMIM:

615546

Human phenotypes related to Van Maldergem Syndrome 2:

32 (show all 45)
id Description HPO Frequency HPO Source Accession
1 joint laxity 32 HP:0001388
2 malar flattening 32 HP:0000272
3 hypertelorism 32 HP:0000316
4 clinodactyly 32 HP:0030084
5 high palate 32 HP:0000218
6 ptosis 32 HP:0000508
7 osteopenia 32 HP:0000938
8 intellectual disability 32 HP:0001249
9 muscular hypotonia 32 HP:0001252
10 scoliosis 32 HP:0002650
11 dental malocclusion 32 HP:0000689
12 skeletal dysplasia 32 HP:0002652
13 wide nasal bridge 32 HP:0000431
14 microtia 32 HP:0008551
15 sensorineural hearing impairment 32 HP:0000407
16 micrognathia 32 HP:0000347
17 feeding difficulties 32 HP:0011968
18 narrow chest 32 HP:0000774
19 epicanthus 32 HP:0000286
20 cryptorchidism 32 HP:0000028
21 growth delay 32 HP:0001510
22 short 4th metacarpal 32 HP:0010044
23 hypospadias 32 HP:0000047
24 hypoplasia of the maxilla 32 HP:0000327
25 conductive hearing impairment 32 HP:0000405
26 downturned corners of mouth 32 HP:0002714
27 renal hypoplasia 32 HP:0000089
28 talipes equinovarus 32 HP:0001762
29 blepharophimosis 32 HP:0000581
30 sacral dimple 32 HP:0000960
31 midface retrusion 32 HP:0011800
32 tracheomalacia 32 HP:0002779
33 cutaneous finger syndactyly 32 HP:0010554
34 tented upper lip vermilion 32 HP:0010804
35 bifid scrotum 32 HP:0000048
36 atresia of the external auditory canal 32 HP:0000413
37 wide anterior fontanel 32 HP:0000260
38 hypoplasia of the corpus callosum 32 HP:0002079
39 micropenis 32 HP:0000054
40 short clavicles 32 HP:0000894
41 short palpebral fissure 32 HP:0012745
42 narrow forehead 32 HP:0000341
43 irregular dentition 32 HP:0040079
44 short fourth metatarsal 32 HP:0004689
45 wide cranial sutures 32 HP:0010537

UMLS symptoms related to Van Maldergem Syndrome 2:


joint laxity

Drugs & Therapeutics for Van Maldergem Syndrome 2

Search Clinical Trials , NIH Clinical Center for Van Maldergem Syndrome 2

Genetic Tests for Van Maldergem Syndrome 2

Genetic tests related to Van Maldergem Syndrome 2:

id Genetic test Affiliating Genes
1 Van Maldergem Syndrome 2 29 24 FAT4

Anatomical Context for Van Maldergem Syndrome 2

MalaCards organs/tissues related to Van Maldergem Syndrome 2:

39
Brain

Publications for Van Maldergem Syndrome 2

Variations for Van Maldergem Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Van Maldergem Syndrome 2:

66
id Symbol AA change Variation ID SNP ID
1 FAT4 p.Glu2375Lys VAR_070925 rs398122955
2 FAT4 p.Cys4159Phe VAR_070926 rs398122953
3 FAT4 p.Cys4398Tyr VAR_070927 rs398122954

ClinVar genetic disease variations for Van Maldergem Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FAT4 NM_024582.4(FAT4): c.12476G> T (p.Cys4159Phe) single nucleotide variant Pathogenic rs398122953 GRCh37 Chromosome 4, 126400898: 126400898
2 FAT4 NM_024582.4(FAT4): c.13193G> A (p.Cys4398Tyr) single nucleotide variant Pathogenic rs398122954 GRCh37 Chromosome 4, 126411170: 126411170
3 FAT4 NM_024582.4(FAT4): c.7123G> A (p.Glu2375Lys) single nucleotide variant Pathogenic rs398122955 GRCh37 Chromosome 4, 126355504: 126355504
4 FAT4 NM_024582.4(FAT4): c.9481G> T (p.Glu3161Ter) single nucleotide variant Pathogenic rs370088878 GRCh37 Chromosome 4, 126371652: 126371652
5 FAT4 NM_024582.4(FAT4): c.14512_14513delTC (p.Ser4838Leufs) deletion Pathogenic rs398122956 GRCh37 Chromosome 4, 126412489: 126412490
6 FAT4 NM_024582.4(FAT4): c.11455C> T (p.Arg3819Ter) single nucleotide variant Pathogenic rs398122957 GRCh37 Chromosome 4, 126373626: 126373626

Expression for Van Maldergem Syndrome 2

Search GEO for disease gene expression data for Van Maldergem Syndrome 2.

Pathways for Van Maldergem Syndrome 2

GO Terms for Van Maldergem Syndrome 2

Sources for Van Maldergem Syndrome 2

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
Content
Loading form....