MCID: MRD001
MIFTS: 13

Marden Walker Like Syndrome

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Marden Walker Like Syndrome

MalaCards integrated aliases for Marden Walker Like Syndrome:

Name: Marden Walker Like Syndrome 53 29 6 73
Blepharophimosis, Arachnodactyly, and Congenital Contractures 53
Marden Walker Like Syndrome Without Psychomotor Retardation 53
Van Den Ende Gupta Syndrome 53
Vdegs 53

Classifications:



External Ids:

UMLS 73 C1833136

Summaries for Marden Walker Like Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2460Disease definitionVan den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.EpidemiologyTen cases from seven families have been reported in the literature.Clinical descriptionThe 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 counselingThe condition is transmitted as an autosomal recessivetrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Marden Walker Like Syndrome, also known as blepharophimosis, arachnodactyly, and congenital contractures, is related to van den ende-gupta syndrome, and has symptoms including stridor An important gene associated with Marden Walker Like Syndrome is SCARF2 (Scavenger Receptor Class F Member 2).

Related Diseases for Marden Walker Like Syndrome

Diseases in the Marden-Walker Syndrome family:

Marden Walker Like Syndrome

Diseases related to Marden Walker Like Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 van den ende-gupta syndrome 11.6

Symptoms & Phenotypes for Marden Walker Like Syndrome

UMLS symptoms related to Marden Walker Like Syndrome:


stridor

Drugs & Therapeutics for Marden Walker Like Syndrome

Search Clinical Trials , NIH Clinical Center for Marden Walker Like Syndrome

Genetic Tests for Marden Walker Like Syndrome

Genetic tests related to Marden Walker Like Syndrome:

# Genetic test Affiliating Genes
1 Marden Walker Like Syndrome 29 SCARF2

Anatomical Context for Marden Walker Like Syndrome

Publications for Marden Walker Like Syndrome

Articles related to Marden Walker Like Syndrome:

# Title Authors Year
1
Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents. ( 1609830 )
1992

Variations for Marden Walker Like Syndrome

ClinVar genetic disease variations for Marden Walker Like 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

Expression for Marden Walker Like Syndrome

Search GEO for disease gene expression data for Marden Walker Like Syndrome.

Pathways for Marden Walker Like Syndrome

GO Terms for Marden Walker Like Syndrome

Sources for Marden Walker Like 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
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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