Van Den Ende-gupta Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

Genes related to Van Den Ende-gupta Syndrome

SCARF2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Van Den Ende-gupta Syndrome

Intellectual disability
Global developmental delay
Generalized hypotonia
Microcephaly
Hypertelorism
Failure to thrive
Abnormal facial shape
Muscular hypotonia
Cleft palate
Flexion contracture

And another 56 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Van Den Ende-gupta Syndrome Is also known as marden-walker-like syndrome, vdegs, blepharophimosis, arachnodactyly, and congenital contractures, marden-walker-like syndrome without psychomotor retardation.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Van Den Ende-gupta Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Contractures Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...) View the complete list with 37 more genes Panel complete gene list SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, SCARF2, SLC39A13, CNTN1, ANTXR2, COL3A1, ALG2, ADCY6, CHST14, ZC4H2, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42, ERBB3, ERCC6, FBN1, FBN2, GLE1, RIPK4, LMNA, MUSK, MYBPC1, MYH2, MYH3, MYH8, NEB, CNTNAP1, CHMP1A, PIP5K1C, PITX1, PLOD2, PLOD3, PSMB8, RAPSN Specificity 2 % Genes 100 %
Abnormal/Ambiguous Genitalia Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...) View the complete list with 52 more genes Panel complete gene list ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, ARX, GRIP1, FRAS1, SCARF2, B3GLCT, CHD7, BCOR, ICK, RSPO1, WDR60, FEZF1, FAT4, CREBBP, TCTN3, FREM2, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, DYNC2H1, DNMT3B, NSMF, AKR1C2, GATA4, KISS1R, HCCS, RIPK4, HOXA13, HSD17B3, HSD3B2, IRF6, ANOS1, AR, LHCGR, LMNA, MAP3K1, MKKS, MKS1, NEK1, NR0B1, NR5A1, OPHN1, ATRX, POR, PTPN11 Specificity 2 % Genes 100 %
Van den Ende-Gupta syndrome (sequence analysis of SCARF2 gene). By CGC Genetics (Portugal). SCARF2 Specificity 100 % Genes 100 %
Craniosynostosis (NGS panel for 30 genes). By CGC Genetics (Portugal). BMP4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, IFT122, RAB23, IRX5, TMCO1, WDR19, SCARF2, FREM1, IMPAD1, ESCO2, IFT140, WDR35, EFNB1, MEGF8, ERF , (...) View the complete list with 10 more genes Panel complete gene list BMP4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, IFT122, RAB23, IRX5, TMCO1, WDR19, SCARF2, FREM1, IMPAD1, ESCO2, IFT140, WDR35, EFNB1, MEGF8, ERF, FGFR1, FGFR2, FGFR3, GLI3, ALPL, ALX4, IL11RA, MASP1, POR, RECQL4 Specificity 4 % Genes 100 %
Van den Ende-Gupta syndrome. By Centogene AG - the Rare Disease Company (Germany). SCARF2 Specificity 100 % Genes 100 %
NGS panel - Aortic or arterial dilatation / dissection. By Genome Diagnostics VU University Medical Center (Netherlands). SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, SCARF2, COL3A1, EFEMP2, ELN, FBN1, FBN2, SMAD2, SMAD3, SMAD4, MYH11, MYLK, NOTCH1, PLOD1 , (...) View the complete list with 1 more genes Panel complete gene list SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, SCARF2, COL3A1, EFEMP2, ELN, FBN1, FBN2, SMAD2, SMAD3, SMAD4, MYH11, MYLK, NOTCH1, PLOD1, PRKG1 Specificity 5 % Genes 100 %
NGS panel- Aortic or arterial dilatation/dissection. By Genome Diagnostics VU University Medical Center (Netherlands). SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, SCARF2, COL3A1, EFEMP2, ELN, FBN1, FBN2, SMAD2, SMAD3, SMAD4, MYH11, MYLK, NOTCH1, PLOD1 , (...) View the complete list with 1 more genes Panel complete gene list SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, SCARF2, COL3A1, EFEMP2, ELN, FBN1, FBN2, SMAD2, SMAD3, SMAD4, MYH11, MYLK, NOTCH1, PLOD1, PRKG1 Specificity 5 % Genes 100 %
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA. By Genome Diagnostics VU University Medical Center (Netherlands). SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, SCARF2, COL3A1, COL5A1, EFEMP2, ELN, FBN1, FBN2, FLNA, SMAD2, SMAD3, SMAD4, MYH11, MYLK , (...) View the complete list with 3 more genes Panel complete gene list SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, SCARF2, COL3A1, COL5A1, EFEMP2, ELN, FBN1, FBN2, FLNA, SMAD2, SMAD3, SMAD4, MYH11, MYLK, NOTCH1, PLOD1, PRKG1 Specificity 5 % Genes 100 %

You can get up to 4 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4 KNOBLOCH SYNDROME 1; KNO1 DEAFNESS, AUTOSOMAL DOMINANT 65; DFNA65 HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS