MCID: VND005
MIFTS: 29

Van Den Ende-Gupta Syndrome

Categories: Genetic diseases, Fetal 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 57 59 75 37 13 40
Vdegs 57 59 75
Marden-Walker-Like Syndrome Without Psychomotor Retardation 57 75
Blepharophimosis, Arachnodactyly, and Congenital Contractures 57
Blepharophimosis Arachnodactyly and Congenital Contractures 75
Marden Walker Like Syndrome 73
Marden-Walker-Like Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
van den ende-gupta syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
van den ende-gupta syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Van Den Ende-Gupta Syndrome

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Van Den Ende-Gupta Syndrome, also known as vdegs, is related to marden walker like 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 eye and bone, and related phenotypes are malar flattening and pectus excavatum

OMIM : 57 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)

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:

# Related Disease Score Top Affiliating Genes
1 marden walker like syndrome 11.5
2 blepharophimosis 10.6
3 congenital contractures 10.4
4 sclerocornea 10.3
5 laryngitis 10.3
6 coloboma of iris 10.3

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

Symptoms via clinical synopsis from OMIM:

57
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
slender ribs
hooked clavicles
hypoplastic glenoid fossa

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

Head And Neck Teeth:
dental crowding

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)

Respiratory Larynx:
laryngomalacia
stridor
globular cuneiform cartilage

Skeletal Hands:
arachnodactyly
camptodactyly
long thumbs
slender hands
hypoplastic distal digital creases
more
Head And Neck Eyes:
blepharophimosis
downslanting eyebrows
sclerocornea (in some patients)

Skeletal Skull:
craniosynostosis
maxillary hypoplasia
small anterior cranial fossa

Skeletal Limbs:
femoral bowing
ulnar bowing
dislocated radial head
elbow contractures
knee 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

Human phenotypes related to Van Den Ende-Gupta Syndrome:

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

UMLS symptoms related to Van Den Ende-Gupta Syndrome:


stridor

Drugs & Therapeutics for Van Den Ende-Gupta Syndrome

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

Genetic Tests for Van Den Ende-Gupta Syndrome

Anatomical Context for Van Den Ende-Gupta Syndrome

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

41
Eye, Bone

Publications for Van Den Ende-Gupta Syndrome

Articles related to Van Den Ende-Gupta Syndrome:

(show all 13)
# Title Authors Year
1
Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report. ( 29378527 )
2018
2
Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders. ( 27375131 )
2016
3
Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion. ( 24478002 )
2014
4
Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome. ( 23808541 )
2014
5
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. ( 20887961 )
2010
6
Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome. ( 22140376 )
2010
7
Further delineation of the Van den Ende-Gupta syndrome. ( 21108395 )
2010
8
van den Ende-Gupta syndrome: evidence for genetic heterogeneity. ( 19449421 )
2009
9
Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities. ( 19339880 )
2009
10
Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings. ( 17937442 )
2007
11
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures. ( 15971261 )
2005
12
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. ( 12673658 )
2003
13
Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis contractural arachnodactyly, and characteristic face. ( 9557887 )
1998

Variations for Van Den Ende-Gupta Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 SCARF2 p.Cys258Tyr VAR_065302

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

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCARF2 NM_153334.6(SCARF2): c.773G> A (p.Cys258Tyr) single nucleotide variant Pathogenic rs387907086 GRCh37 Chromosome 22, 20785386: 20785386
2 SCARF2 NM_153334.6(SCARF2): c.773G> A (p.Cys258Tyr) single nucleotide variant Pathogenic rs387907086 GRCh38 Chromosome 22, 20431099: 20431099
3 SCARF2 NM_153334.6(SCARF2): c.1328_1329delTG (p.Val443Aspfs) deletion Pathogenic rs587776902 GRCh37 Chromosome 22, 20783918: 20783919
4 SCARF2 NM_153334.6(SCARF2): c.1328_1329delTG (p.Val443Aspfs) deletion Pathogenic rs587776902 GRCh38 Chromosome 22, 20429631: 20429632
5 SCARF2 NM_153334.6(SCARF2): c.190T> C (p.Cys64Arg) single nucleotide variant Pathogenic rs587777657 GRCh37 Chromosome 22, 20786259: 20786259
6 SCARF2 NM_153334.6(SCARF2): c.190T> C (p.Cys64Arg) single nucleotide variant Pathogenic rs587777657 GRCh38 Chromosome 22, 20431972: 20431972
7 SCARF2 NM_153334.6(SCARF2): c.2546delA (p.Gln849Argfs) deletion Pathogenic rs587777658 GRCh37 Chromosome 22, 20779735: 20779735
8 SCARF2 NM_153334.6(SCARF2): c.2546delA (p.Gln849Argfs) deletion Pathogenic rs587777658 GRCh38 Chromosome 22, 20425445: 20425445
9 SCARF2 NM_153334.6(SCARF2): c.441_457del17 (p.Trp148Alafs) deletion Pathogenic rs786205883 GRCh38 Chromosome 22, 20431415: 20431431
10 SCARF2 NM_153334.6(SCARF2): c.441_457del17 (p.Trp148Alafs) deletion Pathogenic rs786205883 GRCh37 Chromosome 22, 20785702: 20785718
11 SCARF2 NM_153334.6(SCARF2): c.2513C> G (p.Ala838Gly) single nucleotide variant Benign rs874101 GRCh38 Chromosome 22, 20425478: 20425478
12 SCARF2 NM_153334.6(SCARF2): c.2513C> G (p.Ala838Gly) single nucleotide variant Benign rs874101 GRCh37 Chromosome 22, 20779768: 20779768
13 SCARF2 NM_153334.6(SCARF2): c.2459C> G (p.Ala820Gly) single nucleotide variant Benign rs874100 GRCh37 Chromosome 22, 20779822: 20779822
14 SCARF2 NM_153334.6(SCARF2): c.2459C> G (p.Ala820Gly) single nucleotide variant Benign rs874100 GRCh38 Chromosome 22, 20425532: 20425532
15 SCARF2 NM_153334.6(SCARF2): c.1982C> T (p.Pro661Leu) single nucleotide variant Likely benign rs9680797 GRCh37 Chromosome 22, 20780296: 20780296
16 SCARF2 NM_153334.6(SCARF2): c.1982C> T (p.Pro661Leu) single nucleotide variant Likely benign rs9680797 GRCh38 Chromosome 22, 20426009: 20426009

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

7
# CNVD ID Chromosom 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

Sources for Van Den Ende-Gupta Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
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40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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