Currarino Syndrome

Table of contents:

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

Description

Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).

Genes related to Currarino Syndrome

MNX1

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Currarino Syndrome

Hypospadias
Vesicoureteral reflux
Hypoplasia of penis
Abnormal intestine morphology
Bifid scrotum
Male pseudohermaphroditism
Arteriovenous malformation
Lower limb asymmetry
Sacrococcygeal teratoma
Aplasia/Hypoplasia of the sacrum

Incidence and onset information

— Based on the latest data available CURRARINO SYNDROME have a estimated prevalence of 1 per 100k worldwide.
— No data available about the known clinical features onset.

Alternative names

Currarino Syndrome Is also known as currarino triad.

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.

Currarino Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...) View the complete list with 21 more genes Panel complete gene list BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT, EIF2AK3, AIRE, AKT2, GATA4, GATA6, GCK, GLUD1, HADH, MNX1, ABCC8, IL2RA, INS, INSR, FOXP3, PDX1, KCNJ11, NEUROD1, NKX2-2, PAX4, PCBD1, DNAJC3 Specificity 3 % Genes 100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel. By Genetic Services Laboratory University of Chicago (United States). BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...) View the complete list with 21 more genes Panel complete gene list BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT, EIF2AK3, AIRE, AKT2, GATA4, GATA6, GCK, GLUD1, HADH, MNX1, ABCC8, IL2RA, INS, INSR, FOXP3, PDX1, KCNJ11, NEUROD1, NKX2-2, PAX4, PCBD1, DNAJC3 Specificity 3 % Genes 100 %
Comprehensive Neonatal Diabetes Mutation Analysis. By Genetic Services Laboratory University of Chicago (United States). ZFP57, EIF2AK3, GATA4, GATA6, GCK, MNX1, HYMAI, ABCC8, INS, FOXP3, PDX1, KCNJ11, NKX2-2, PLAGL1 Specificity 8 % Genes 100 %
Neonatal Diabetes Mellitus Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). ZFP57, EIF2AK3, GATA4, GATA6, GCK, MNX1, ABCC8, INS, FOXP3, PDX1, KCNJ11, NKX2-2 Specificity 9 % Genes 100 %
MNX1 sequencing. By Genetic Services Laboratory University of Chicago (United States). MNX1 Specificity 100 % Genes 100 %
MNX1 deletion/duplication analysis. By Genetic Services Laboratory University of Chicago (United States). MNX1 Specificity 100 % Genes 100 %
HLXB9. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). MNX1 Specificity 100 % Genes 100 %
Currarino syndrome (sequence analysis of MNX1 gene). By CGC Genetics (Portugal). MNX1 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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