VMLDS2
MCID: VNM002
MIFTS: 28

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 56 12 73 29 6 71
Vmlds2 56 73
Van Maldergem Syndrome, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
some features may be variable


HPO:

31
van maldergem syndrome 2:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Van Maldergem Syndrome 2

OMIM : 56 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 : 73 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:

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
ptosis
epicanthal folds
short palpebral fissures

Neurologic Central Nervous System:
intellectual disability
subcortical band heterotopia
periventricular nodular heterotopia
mental retardation
thin corpus callosum

Skeletal:
osteopenia
skeletal dysplasia
joint laxity

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

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

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
Skeletal Spine:
scoliosis

Head And Neck Teeth:
dental malocclusion
irregular dentition

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Skin:
sacral dimple

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:

40
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. 56 6
24056717 2013
2
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance. 56 6
22473091 2012
3
A further patient with van Maldergem syndrome. 56 6
22469822 2012
4
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. 6
24913602 2014
5
Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. 6
2624276 1989

Variations for Van Maldergem Syndrome 2

ClinVar genetic disease variations for Van Maldergem Syndrome 2:

6 (showing 14, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FAT4 NM_024582.4(FAT4):c.12476G>T (p.Cys4159Phe)SNV Pathogenic 89004 rs398122953 4:126400898-126400898 4:125479743-125479743
2 FAT4 NM_024582.4(FAT4):c.13193G>A (p.Cys4398Tyr)SNV Pathogenic 89005 rs398122954 4:126411170-126411170 4:125490015-125490015
3 FAT4 NM_024582.4(FAT4):c.7123G>A (p.Glu2375Lys)SNV Pathogenic 89006 rs398122955 4:126355504-126355504 4:125434349-125434349
4 FAT4 NM_024582.4(FAT4):c.9481G>T (p.Glu3161Ter)SNV Pathogenic 89007 rs370088878 4:126371652-126371652 4:125450497-125450497
5 FAT4 NM_024582.4(FAT4):c.14512_14513del (p.Ser4838fs)deletion Pathogenic 89008 rs398122956 4:126412489-126412490 4:125491334-125491335
6 FAT4 NM_024582.4(FAT4):c.11455C>T (p.Arg3819Ter)SNV Pathogenic 89009 rs398122957 4:126373626-126373626 4:125452471-125452471
7 FAT4 NM_001291303.1(FAT4):c.11800+1G>TSNV Pathogenic 623344 rs963302668 4:126373966-126373966 4:125452811-125452811
8 FAT4 NM_001291303.3(FAT4):c.3212T>C (p.Val1071Ala)SNV Uncertain significance 802086 4:126240778-126240778 4:125319623-125319623
9 FAT4 NM_024582.4(FAT4):c.8015A>T (p.Asp2672Val)SNV Uncertain significance 420323 rs138655269 4:126370186-126370186 4:125449031-125449031
10 FAT4 NM_024582.4(FAT4):c.13519G>C (p.Ala4507Pro)SNV Uncertain significance 522673 rs1553931010 4:126411496-126411496 4:125490341-125490341
11 FAT4 NM_001291303.1(FAT4):c.10560G>A (p.Met3520Ile)SNV Uncertain significance 522864 rs144506470 4:126372725-126372725 4:125451570-125451570
12 FAT4 NM_024582.4(FAT4):c.13393G>A (p.Val4465Met)SNV Uncertain significance 587591 rs1215405311 4:126411370-126411370 4:125490215-125490215
13 FAT4 NM_024582.4(FAT4):c.10571G>A (p.Gly3524Asp)SNV Benign 380813 rs1567047 4:126372742-126372742 4:125451587-125451587
14 FAT4 NM_024582.4(FAT4):c.11618G>A (p.Ser3873Asn)SNV Benign 380797 rs12650153 4:126373789-126373789 4:125452634-125452634

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

73 (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

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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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