VDEGS
MCID: VND005
MIFTS: 41

Van Den Ende-Gupta Syndrome (VDEGS)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Van Den Ende-Gupta Syndrome

MalaCards integrated aliases for Van Den Ende-Gupta Syndrome:

Name: Van Den Ende-Gupta Syndrome 56 12 58 73 36 29 13 6 15 39
Vdegs 56 12 52 58 73
Blepharophimosis, Arachnodactyly, and Congenital Contractures 56 12 52
Marden Walker Like Syndrome 52 43 71
Marden-Walker-Like Syndrome Without Psychomotor Retardation 56 73
Marden-Walker-Like Syndrome 12 58
Marden Walker Like Syndrome Without Psychomotor Retardation 52
Blepharophimosis Arachnodactyly and Congenital Contractures 73
Marden-Walker-Like Syndrome Without Psychmotor Retardation 12
Van Den Ende Gupta Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
van den ende-gupta syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
van den ende-gupta syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Van Den Ende-Gupta Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2460 Definition Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures , and characteristic dysmorphic features. Epidemiology Ten cases from seven families have been reported in the literature. Clinical description The dysmorphic features include narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, blepharophimosis, large ears and high-arched or cleft palate . The affected patients can have learning disabilities. Genetic counseling The condition is transmitted as an autosomal recessive trait . Visit the Orphanet disease page for more resources.

MalaCards based summary : Van Den Ende-Gupta Syndrome, also known as vdegs, is related to digeorge syndrome and blepharophimosis, and has symptoms including stridor An important gene associated with Van Den Ende-Gupta Syndrome is SCARF2 (Scavenger Receptor Class F Member 2). Affiliated tissues include bone, eye and lung, and related phenotypes are sclerocornea and depressed nasal bridge

Disease Ontology : 12 A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has material basis in homozygous or compound heterozygous mutation in SCARF2 on chromosome 22q11.21.

OMIM : 56 Van den Ende-Gupta syndrome is an autosomal recessive disorder characterized by severe contractual arachnodactyly from birth and distinctive facial dysmorphism, including triangular face, malar hypoplasia, narrow nose, everted lips, and blepharophimosis. Skeletal anomalies include slender ribs, hooked clavicles, and dislocated radial head. There is no neurologic involvement (summary by Patel et al., 2014). (600920)

KEGG : 36 Van den Ende-Gupta syndrome (VDEGS) is a rare hereditary disorder with characteristic craniofacial and skeletal manifestations. Characteristic features of VDEGS include blepharophimosis, malar hypoplasia, narrow nasal bridge, convex nasal ridge everted lower lip, arachnodactyly, camptodactyly, slender ribs, underdeveloped glenoid fossa, and mild bowing of long bones, while growth and development are normal. The pattern of inheritance has been suggested to be autosomal recessive, but several reports have suggested it to be autosomal dominant.

UniProtKB/Swiss-Prot : 73 Van den Ende-Gupta syndrome: A syndrome characterized by craniofacial and skeletal abnormalities that include blepharophimosis, a flat and wide nasal bridge, narrow and beaked nose, hypoplastic maxilla with or without cleft palate and everted lower lip, prominent ears, down-slanting eyes, arachnodactyly, and camptodactyly. Patients present congenital joint contractures that improve without intervention, and normal growth and development. Intelligence is normal. Rarely, enlarged cerebella can be present. Some patients experience respiratory problems due to laryngeal abnormalities.

Related Diseases for Van Den Ende-Gupta Syndrome

Diseases related to Van Den Ende-Gupta Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 digeorge syndrome 27.1 TSSK2 SNAP29 SCARF2 PRODH PI4KA LZTR1
2 blepharophimosis 10.9
3 congenital contractures 10.7
4 contractural arachnodactyly, congenital 10.5
5 marden-walker syndrome 10.5
6 autosomal recessive disease 10.5
7 cleft palate, isolated 10.4
8 coloboma of macula 10.4
9 hypertelorism 10.4
10 laryngomalacia 10.4
11 arthrogryposis, distal, type 2a 10.4
12 dandy-walker syndrome 10.4
13 schwartz-jampel syndrome, type 1 10.4
14 alacrima, achalasia, and mental retardation syndrome 10.4
15 sclerocornea 10.4
16 microcephaly 10.4
17 clubfoot 10.4
18 ehlers-danlos syndrome 10.4
19 cataract 10.4
20 cerebro-oculo-facio-skeletal syndrome 10.4
21 coloboma of iris 10.4
22 t-cell immunodeficiency with thymic aplasia 10.2 SNAP29 PRODH
23 hyperprolinemia, type i 10.1 TSSK2 PRODH
24 opitz-gbbb syndrome 10.0 SNAP29 PRODH GP1BB
25 combined d-2- and l-2-hydroxyglutaric aciduria 10.0 TSSK2 SNAP29
26 bernard-soulier syndrome 10.0 SNAP29 PRODH GP1BB
27 inherited blood coagulation disease 10.0 PRODH GP1BB
28 bladder exstrophy-epispadias-cloacal exstrophy complex 9.9 LZTR1 CRKL
29 chromosome 22q11.2 duplication syndrome 9.8 PRODH LZTR1 CRKL
30 heparin cofactor ii deficiency 9.8 PRODH PI4KA
31 exstrophy of bladder 9.8 LZTR1 CRKL
32 chromosomal deletion syndrome 9.8 PRODH DGCR2 CRKL
33 neurilemmomatosis 9.8 SCARF2 LZTR1
34 velocardiofacial syndrome 9.6 PRODH GP1BB DGCR2 CRKL
35 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 9.5 SNAP29 SCARF2 PRODH GP1BB CRKL
36 tetralogy of fallot 9.3 SNAP29 PRODH LZTR1 GP1BB CRKL

Graphical network of the top 20 diseases related to Van Den Ende-Gupta Syndrome:



Diseases related to Van Den Ende-Gupta Syndrome

Symptoms & Phenotypes for Van Den Ende-Gupta Syndrome

Human phenotypes related to Van Den Ende-Gupta Syndrome:

31 (show all 39)
# Description HPO Frequency HPO Source Accession
1 sclerocornea 31 occasional (7.5%) HP:0000647
2 depressed nasal bridge 31 HP:0005280
3 everted lower lip vermilion 31 HP:0000232
4 cleft palate 31 HP:0000175
5 high palate 31 HP:0000218
6 high, narrow palate 31 HP:0002705
7 pectus excavatum 31 HP:0000767
8 slender long bone 31 HP:0003100
9 elbow flexion contracture 31 HP:0002987
10 talipes equinovarus 31 HP:0001762
11 hypoplasia of the maxilla 31 HP:0000327
12 arachnodactyly 31 HP:0001166
13 dental crowding 31 HP:0000678
14 laryngomalacia 31 HP:0001601
15 protruding ear 31 HP:0000411
16 malar flattening 31 HP:0000272
17 blepharophimosis 31 HP:0000581
18 hallux valgus 31 HP:0001822
19 craniosynostosis 31 HP:0001363
20 underdeveloped nasal alae 31 HP:0000430
21 single umbilical artery 31 HP:0001195
22 knee flexion contracture 31 HP:0006380
23 long hallux 31 HP:0001847
24 stridor 31 HP:0010307
25 thin ribs 31 HP:0000883
26 femoral bowing 31 HP:0002980
27 dislocated radial head 31 HP:0003083
28 ulnar bowing 31 HP:0003031
29 camptodactyly of toe 31 HP:0001836
30 lateral clavicle hook 31 HP:0000895
31 choanal stenosis 31 HP:0000452
32 glenoid fossa hypoplasia 31 HP:0006633
33 slender metacarpals 31 HP:0006236
34 joint contracture of the hand 31 HP:0009473
35 narrow nose 31 HP:0000460
36 narrow foot 31 HP:0001786
37 abnormal eyebrow morphology 31 HP:0000534
38 distal ulnar hypoplasia 31 HP:0005033
39 long metacarpals 31 HP:0010493

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
cleft palate
high arched palate
everted lower lip

Skeletal Hands:
arachnodactyly
camptodactyly
long thumbs
slender hands
hypoplastic distal digital creases
more
Respiratory Larynx:
laryngomalacia
stridor
globular cuneiform cartilage

Skeletal Feet:
hallux valgus
camptodactyly
clubfeet
slender feet
long halluces

Prenatal Manifestations Placenta And Umbilical Cord:
single umbilical artery

Head And Neck Nose:
narrow nose
flat nasal bridge
hypoplastic alae nasi
post-choanal stenosis
pseudocleft of the columella

Head And Neck Ears:
prominent ears

Skin Nails Hair Hair:
downslanting eyebrows

Skeletal:
joint contractures (improves with time)

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
slender ribs
hooked clavicles
hypoplastic glenoid fossa

Head And Neck Teeth:
dental crowding

Head And Neck Eyes:
blepharophimosis
downslanting eyebrows
sclerocornea (in some patients)

Skeletal Skull:
craniosynostosis
maxillary hypoplasia
small anterior cranial fossa

Skeletal Limbs:
femoral bowing
dislocated radial head
ulnar bowing
knee contractures
elbow contractures
more
Neurologic Central Nervous System:
normal intelligence
cerebellar enlargement

Head And Neck Face:
malar hypoplasia
asymmetric face

Respiratory Nasopharynx:
tightly coiled epiglottis
shortened aryepiglottic folds

Clinical features from OMIM:

600920

UMLS symptoms related to Van Den Ende-Gupta Syndrome:


stridor

GenomeRNAi Phenotypes related to Van Den Ende-Gupta Syndrome according to GeneCards Suite gene sharing:

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.6 PI4KA
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-124 9.6 DGCR2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-131 9.6 DGCR2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-133 9.6 DGCR2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-136 9.6 PRODH
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.6 PRODH
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-182 9.6 DGCR2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-192 9.6 PRODH
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.6 PI4KA
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 9.6 PRODH
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.6 DGCR2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.6 PRODH
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.6 PI4KA
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-4 9.6 PRODH
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 9.6 PI4KA
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-5 9.6 PRODH
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.6 PRODH
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.6 DGCR2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.6 PRODH

MGI Mouse Phenotypes related to Van Den Ende-Gupta Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.23 CRKL DGCR2 GP1BB LZTR1 PI4KA SCARF1

Drugs & Therapeutics for Van Den Ende-Gupta Syndrome

Search Clinical Trials , NIH Clinical Center for Van Den Ende-Gupta Syndrome

Cochrane evidence based reviews: marden walker like syndrome

Genetic Tests for Van Den Ende-Gupta Syndrome

Genetic tests related to Van Den Ende-Gupta Syndrome:

# Genetic test Affiliating Genes
1 Van Den Ende-Gupta Syndrome 29 SCARF2

Anatomical Context for Van Den Ende-Gupta Syndrome

MalaCards organs/tissues related to Van Den Ende-Gupta Syndrome:

40
Bone, Eye, Lung

Publications for Van Den Ende-Gupta Syndrome

Articles related to Van Den Ende-Gupta Syndrome:

(show all 18)
# Title Authors PMID Year
1
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. 56 6 61
24478002 2014
2
Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome. 56 6 61
23808541 2014
3
Further delineation of the Van den Ende-Gupta syndrome. 6 56 61
21108395 2010
4
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. 61 6 56
20887961 2010
5
van den Ende-Gupta syndrome: evidence for genetic heterogeneity. 56 61
19449421 2009
6
Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings. 56 61
17937442 2007
7
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. 56 61
12673658 2003
8
Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis contractural arachnodactyly, and characteristic face. 61 56
9557887 1998
9
A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation. 56
8558561 1995
10
Congenital contractural arachnodactyly in two double second cousins: possible homozygosity. 56
8403449 1993
11
Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents. 56
1609830 1992
12
Simultaneous Midface Advancement and Orthognathic Surgery: A Powerful Technique for Managing Midface Hypoplasia and Malocclusion. 61
32459778 2020
13
Gene regulation and prognostic indicators of lung squamous cell carcinoma: TCGA-derived miRNA/mRNA sequencing and DNA methylation data. 61
31169310 2019
14
Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report. 61
29378527 2018
15
Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders. 61
27375131 2016
16
Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome. 61
22140376 2010
17
Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities. 61
19339880 2009
18
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures. 61
15971261 2005

Variations for Van Den Ende-Gupta Syndrome

ClinVar genetic disease variations for Van Den Ende-Gupta Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCARF2 NM_182895.5(SCARF2):c.773G>A (p.Cys258Tyr)SNV Pathogenic 31046 rs387907086 22:20785386-20785386 22:20431099-20431099
2 SCARF2 NM_182895.5(SCARF2):c.1328_1329del (p.Val443fs)deletion Pathogenic 31047 rs587776902 22:20783918-20783919 22:20429631-20429632
3 SCARF2 NM_182895.5(SCARF2):c.190T>C (p.Cys64Arg)SNV Pathogenic 144050 rs587777657 22:20786259-20786259 22:20431972-20431972
4 SCARF2 NM_182895.5(SCARF2):c.2531del (p.Gln844fs)deletion Pathogenic 144051 rs587777658 22:20779735-20779735 22:20425445-20425445
5 SCARF2 NM_182895.5(SCARF2):c.441_457del (p.Trp148fs)deletion Pathogenic 190239 rs786205883 22:20785702-20785718 22:20431415-20431431
6 SCARF2 NM_182895.5(SCARF2):c.915C>G (p.Cys305Trp)SNV Likely pathogenic 803645 22:20785135-20785135 22:20430848-20430848
7 SCARF2 NM_182895.5(SCARF2):c.1967C>T (p.Pro656Leu)SNV Likely benign 522182 rs9680797 22:20780296-20780296 22:20426009-20426009
8 SCARF2 NM_182895.5(SCARF2):c.2498C>G (p.Ala833Gly)SNV Benign 518324 rs874101 22:20779768-20779768 22:20425478-20425478
9 SCARF2 NM_182895.5(SCARF2):c.2444C>G (p.Ala815Gly)SNV Benign 518325 rs874100 22:20779822-20779822 22:20425532-20425532

UniProtKB/Swiss-Prot genetic disease variations for Van Den Ende-Gupta Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 SCARF2 p.Cys258Tyr VAR_065302 rs387907086

Copy number variations for Van Den Ende-Gupta Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 161510 22 19108874 19122146 Deletion SCARF2 Van den Ende-Gupta Syndrome

Expression for Van Den Ende-Gupta Syndrome

Search GEO for disease gene expression data for Van Den Ende-Gupta Syndrome.

Pathways for Van Den Ende-Gupta Syndrome

GO Terms for Van Den Ende-Gupta Syndrome

Biological processes related to Van Den Ende-Gupta Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.26 SCARF2 SCARF1 GP1BB DGCR2
2 dendrite development GO:0016358 9.16 SCARF1 CRKL
3 carbohydrate transport GO:0008643 8.62 SLC37A2 SLC2A10

Molecular functions related to Van Den Ende-Gupta Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 scavenger receptor activity GO:0005044 8.62 SCARF2 SCARF1

Sources for Van Den Ende-Gupta Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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