VMLDS2
MCID: VNM002
MIFTS: 27

Van Maldergem Syndrome 2 (VMLDS2)

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

Aliases & Classifications for Van Maldergem Syndrome 2

MalaCards integrated aliases for Van Maldergem Syndrome 2:

Name: Van Maldergem Syndrome 2 57 12 74 29 6 72
Vmlds2 57 74
Van Maldergem Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
some features may be variable


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0080586
UMLS 72 C3809875

Summaries for Van Maldergem Syndrome 2

OMIM : 57 Van Maldergem syndrome is 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 (summary by Cappello et al., 2013). For a discussion of genetic heterogeneity of Van Maldergem syndrome, see 601390. (615546)

MalaCards based summary : Van Maldergem Syndrome 2, is also known as vmlds2. An important gene associated with Van Maldergem Syndrome 2 is FAT4 (FAT Atypical Cadherin 4). Affiliated tissues include brain, bone and kidney, and related phenotypes are malar flattening and hypertelorism

Disease Ontology : 12 A Van Malergem syndrome that has material basis in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28.

UniProtKB/Swiss-Prot : 74 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 in the Van Maldergem Syndrome family:

Van Maldergem Syndrome 1 Van Maldergem Syndrome 2

Symptoms & Phenotypes for Van Maldergem Syndrome 2

Human phenotypes related to Van Maldergem Syndrome 2:

32 (showing 47, show less)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 clinodactyly 32 HP:0030084
4 high palate 32 HP:0000218
5 ptosis 32 HP:0000508
6 osteopenia 32 HP:0000938
7 intellectual disability 32 HP:0001249
8 scoliosis 32 HP:0002650
9 dental malocclusion 32 HP:0000689
10 skeletal dysplasia 32 HP:0002652
11 wide nasal bridge 32 HP:0000431
12 microtia 32 HP:0008551
13 sensorineural hearing impairment 32 HP:0000407
14 micrognathia 32 HP:0000347
15 narrow forehead 32 HP:0000341
16 sacral dimple 32 HP:0000960
17 generalized hypotonia 32 HP:0001290
18 tented upper lip vermilion 32 HP:0010804
19 feeding difficulties 32 HP:0011968
20 narrow chest 32 HP:0000774
21 epicanthus 32 HP:0000286
22 cryptorchidism 32 HP:0000028
23 growth delay 32 HP:0001510
24 short 4th metacarpal 32 HP:0010044
25 joint laxity 32 HP:0001388
26 talipes equinovarus 32 HP:0001762
27 hypospadias 32 HP:0000047
28 hypoplasia of the maxilla 32 HP:0000327
29 micropenis 32 HP:0000054
30 bifid scrotum 32 HP:0000048
31 conductive hearing impairment 32 HP:0000405
32 downturned corners of mouth 32 HP:0002714
33 renal hypoplasia 32 HP:0000089
34 blepharophimosis 32 HP:0000581
35 midface retrusion 32 HP:0011800
36 wide anterior fontanel 32 HP:0000260
37 tracheomalacia 32 HP:0002779
38 cutaneous finger syndactyly 32 HP:0010554
39 atresia of the external auditory canal 32 HP:0000413
40 hypoplasia of the corpus callosum 32 HP:0002079
41 short clavicles 32 HP:0000894
42 short palpebral fissure 32 HP:0012745
43 irregular dentition 32 HP:0040079
44 short fourth metatarsal 32 HP:0004689
45 wide cranial sutures 32 HP:0010537
46 subcortical band heterotopia 32 HP:0032409
47 periventricular nodular heterotopia 32 HP:0032388

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
epicanthal folds
short palpebral fissures

Skeletal:
osteopenia
skeletal dysplasia
joint laxity

Skeletal Spine:
scoliosis

Head And Neck Ears:
microtia
hearing loss, conductive
hearing loss, sensorineural
atresia of the external auditory canals

Skin Nails Hair Skin:
sacral dimple

Skeletal Feet:
talipes equinovarus
foot deformities
short fourth metatarsals

Chest Ribs Sternum Clavicles And Scapulae:
short clavicles

Head And Neck Nose:
broad nasal bridge
thickening of the nasal alae

Head And Neck Mouth:
high-arched palate
downturned mouth
tented upper lip
thick gums

Abdomen Gastrointestinal:
poor feeding
anteriorly positioned anus

Growth Other:
poor growth

Respiratory:
respiratory difficulties due to tracheomalacia

Skeletal Limbs:
subluxation of the radial heads

Skeletal Hands:
clinodactyly
syndactyly, cutaneous
hand deformities
short fourth metacarpals
flexion of the pip joints
more
Neurologic Central Nervous System:
intellectual disability
subcortical band heterotopia
periventricular nodular heterotopia
mental retardation
thin corpus callosum

Head And Neck Teeth:
dental malocclusion
irregular dentition

Head And Neck Face:
micrognathia
flat midface
maxillary hypoplasia
bitemporal narrowing

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias
micropenis
bifid scrotum

Skeletal Skull:
wide cranial sutures
thickened skull base
thickened frontal bones

Muscle Soft Tissue:
hypotonia

Genitourinary Kidneys:
hypoplastic kidneys

Chest External Features:
narrow thorax

Head And Neck Head:
large anterior fontanels

Respiratory Airways:
tracheomalacia (tracheostomy may be required)

Clinical features from OMIM:

615546

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:

# Genetic test Affiliating Genes
1 Van Maldergem Syndrome 2 29 FAT4

Anatomical Context for Van Maldergem Syndrome 2

MalaCards organs/tissues related to Van Maldergem Syndrome 2:

41
Brain, Bone, Kidney

Publications for Van Maldergem Syndrome 2

Articles related to Van Maldergem Syndrome 2:

(showing 5, show less)
# Title Authors PMID Year
1
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. 8 71
24056717 2013
2
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance. 8 71
22473091 2012
3
A further patient with van Maldergem syndrome. 8 71
22469822 2012
4
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. 71
24913602 2014
5
Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. 71
2624276 1989

Variations for Van Maldergem Syndrome 2

ClinVar genetic disease variations for Van Maldergem Syndrome 2:

6 (showing 11, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FAT4 NM_001291303.1(FAT4): c.12482G> T (p.Cys4161Phe) single nucleotide variant Pathogenic rs398122953 4:126400898-126400898 4:125479743-125479743
2 FAT4 NM_001291303.1(FAT4): c.13199G> A (p.Cys4400Tyr) single nucleotide variant Pathogenic rs398122954 4:126411170-126411170 4:125490015-125490015
3 FAT4 NM_001291303.1(FAT4): c.7123G> A (p.Glu2375Lys) single nucleotide variant Pathogenic rs398122955 4:126355504-126355504 4:125434349-125434349
4 FAT4 NM_001291303.1(FAT4): c.9487G> T (p.Glu3163Ter) single nucleotide variant Pathogenic rs370088878 4:126371652-126371652 4:125450497-125450497
5 FAT4 NM_001291303.1(FAT4): c.14518_14519del (p.Ser4840fs) deletion Pathogenic rs398122956 4:126412489-126412490 4:125491334-125491335
6 FAT4 NM_001291303.1(FAT4): c.11461C> T (p.Arg3821Ter) single nucleotide variant Pathogenic rs398122957 4:126373626-126373626 4:125452471-125452471
7 FAT4 NM_001291303.1(FAT4): c.11800+1G> T single nucleotide variant Pathogenic 4:126373966-126373966 4:125452811-125452811
8 FAT4 NM_001291303.1(FAT4): c.8021A> T (p.Asp2674Val) single nucleotide variant Uncertain significance rs138655269 4:126370186-126370186 4:125449031-125449031
9 FAT4 NM_001291303.1(FAT4): c.13525G> C (p.Ala4509Pro) single nucleotide variant Uncertain significance rs1553931010 4:126411496-126411496 4:125490341-125490341
10 FAT4 NM_001291303.1(FAT4): c.10560G> A (p.Met3520Ile) single nucleotide variant Uncertain significance rs144506470 4:126372725-126372725 4:125451570-125451570
11 FAT4 NM_001291303.1(FAT4): c.13399G> A (p.Val4467Met) single nucleotide variant Uncertain significance 4:126411370-126411370 4:125490215-125490215

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

74 (showing 3, show less)
# 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

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
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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