MCID: VNM002
MIFTS: 22

Van Maldergem Syndrome 2

Categories: Genetic diseases

Aliases & Classifications for Van Maldergem Syndrome 2

MalaCards integrated aliases for Van Maldergem Syndrome 2:

Name: Van Maldergem Syndrome 2 57 75 29 6 73
Vmlds2 57 75
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:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



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, kidney and bone, and related phenotypes are malar flattening and hypertelorism

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Van Maldergem Syndrome 2

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

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
mental retardation
thin corpus callosum
subcortical band heterotopia
periventricular nodular heterotopia

Head And Neck Teeth:
dental malocclusion
irregular dentition

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

Genitourinary External Genitalia Male:
hypospadias
bifid scrotum
micropenis

Skin Nails Hair Skin:
sacral dimple

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

Human phenotypes related to Van Maldergem Syndrome 2:

32 (show all 45)
# 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 feeding difficulties 32 HP:0011968
16 narrow chest 32 HP:0000774
17 epicanthus 32 HP:0000286
18 cryptorchidism 32 HP:0000028
19 growth delay 32 HP:0001510
20 short 4th metacarpal 32 HP:0010044
21 hypospadias 32 HP:0000047
22 hypoplasia of the maxilla 32 HP:0000327
23 conductive hearing impairment 32 HP:0000405
24 joint laxity 32 HP:0001388
25 downturned corners of mouth 32 HP:0002714
26 renal hypoplasia 32 HP:0000089
27 talipes equinovarus 32 HP:0001762
28 blepharophimosis 32 HP:0000581
29 sacral dimple 32 HP:0000960
30 midface retrusion 32 HP:0011800
31 wide anterior fontanel 32 HP:0000260
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 hypoplasia of the corpus callosum 32 HP:0002079
38 micropenis 32 HP:0000054
39 short clavicles 32 HP:0000894
40 short palpebral fissure 32 HP:0012745
41 generalized hypotonia 32 HP:0001290
42 narrow forehead 32 HP:0000341
43 short fourth metatarsal 32 HP:0004689
44 wide cranial sutures 32 HP:0010537
45 irregular dentition 32 HP:0040079

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, Kidney, Bone

Publications for Van Maldergem Syndrome 2

Variations for Van Maldergem Syndrome 2

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

75
# 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
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 FAT4 NM_024582.4(FAT4): c.14512_14513delTC (p.Ser4838Leufs) deletion Pathogenic rs398122956 GRCh37 Chromosome 4, 126412489: 126412490
2 FAT4 NM_024582.4(FAT4): c.14512_14513delTC (p.Ser4838Leufs) deletion Pathogenic rs398122956 GRCh38 Chromosome 4, 125491334: 125491335
3 FAT4 NM_024582.4(FAT4): c.11455C> T (p.Arg3819Ter) single nucleotide variant Pathogenic rs398122957 GRCh37 Chromosome 4, 126373626: 126373626
4 FAT4 NM_024582.4(FAT4): c.11455C> T (p.Arg3819Ter) single nucleotide variant Pathogenic rs398122957 GRCh38 Chromosome 4, 125452471: 125452471
5 FAT4 NM_024582.4(FAT4): c.12476G> T (p.Cys4159Phe) single nucleotide variant Pathogenic rs398122953 GRCh37 Chromosome 4, 126400898: 126400898
6 FAT4 NM_024582.4(FAT4): c.12476G> T (p.Cys4159Phe) single nucleotide variant Pathogenic rs398122953 GRCh38 Chromosome 4, 125479743: 125479743
7 FAT4 NM_024582.4(FAT4): c.13193G> A (p.Cys4398Tyr) single nucleotide variant Pathogenic rs398122954 GRCh37 Chromosome 4, 126411170: 126411170
8 FAT4 NM_024582.4(FAT4): c.13193G> A (p.Cys4398Tyr) single nucleotide variant Pathogenic rs398122954 GRCh38 Chromosome 4, 125490015: 125490015
9 FAT4 NM_024582.4(FAT4): c.7123G> A (p.Glu2375Lys) single nucleotide variant Pathogenic rs398122955 GRCh37 Chromosome 4, 126355504: 126355504
10 FAT4 NM_024582.4(FAT4): c.7123G> A (p.Glu2375Lys) single nucleotide variant Pathogenic rs398122955 GRCh38 Chromosome 4, 125434349: 125434349
11 FAT4 NM_024582.4(FAT4): c.9481G> T (p.Glu3161Ter) single nucleotide variant Pathogenic rs370088878 GRCh37 Chromosome 4, 126371652: 126371652
12 FAT4 NM_024582.4(FAT4): c.9481G> T (p.Glu3161Ter) single nucleotide variant Pathogenic rs370088878 GRCh38 Chromosome 4, 125450497: 125450497
13 FAT4 NM_024582.4(FAT4): c.8015A> T (p.Asp2672Val) single nucleotide variant Uncertain significance rs138655269 GRCh38 Chromosome 4, 125449031: 125449031
14 FAT4 NM_024582.4(FAT4): c.8015A> T (p.Asp2672Val) single nucleotide variant Uncertain significance rs138655269 GRCh37 Chromosome 4, 126370186: 126370186
15 FAT4 NM_024582.4(FAT4): c.13519G> C (p.Ala4507Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 126411496: 126411496
16 FAT4 NM_024582.4(FAT4): c.13519G> C (p.Ala4507Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 125490341: 125490341
17 FAT4 NM_001291303.1(FAT4): c.10560G> A (p.Met3520Ile) single nucleotide variant Uncertain significance rs144506470 GRCh37 Chromosome 4, 126372725: 126372725
18 FAT4 NM_001291303.1(FAT4): c.10560G> A (p.Met3520Ile) single nucleotide variant Uncertain significance rs144506470 GRCh38 Chromosome 4, 125451570: 125451570

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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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