Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 12; Mddga12

Table of contents:

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

Description

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

Genes related to Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 12; Mddga12

POMK

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Clinical Features

Top most frequent phenotypes and symptoms related to Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 12; Mddga12

Seizures
Global developmental delay
Generalized hypotonia
Hearing impairment
Microcephaly
Scoliosis
Sensorineural hearing impairment
Muscle weakness
Cataract
Flexion contracture

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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

Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 12; Mddga12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related.

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.

Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 12; Mddga12 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neuromuscular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...) View the complete list with 124 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, UBA1, VCP, VRK1, ACTA1, RXYLT1, FBXL4, CACNA1S, SLC5A7, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, BSCL2, SELENON, LIMS2, MGME1, TRIM32, FIG4, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, BICD2, RRM2B, FKRP, TRPV4, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, CLCN1, CNTN1, AGK, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, GNE, CRYAB, SIL1, LAS1L, TRAPPC11, REEP1, POMGNT2, MTMR14, POMK, DOK7, DAG1, DCTN1, ANO5, DES, STAC3, TMEM43, B3GALNT2, SMCHD1, PLEKHG5, DMD, TOR1AIP1, DYNC1H1, MEGF10, DNM2, DNMT1, DPM1, DPM2, DPM3, HSPB8, KLHL40, PNPLA2, DYSF, TYMP, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GAN, GARS, GLE1, SETX, AMPD1, HINT1, HNRNPDL, HSPB1, IGHMBP2, ITGA7, LAMA2, LAMP2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYF6, MYH2, MYH7, NEB, ATP2A1, PABPN1, ATP7A, PHKA1, PLEC, PMM2, POLG, POLG2, POMT1, BAG3, CAVIN1, PYGM, RAPSN Specificity 1 % Genes 100 %
Neuromuscular Disorders Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1 , (...) View the complete list with 91 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, SELENON, LIMS2, TRIM32, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, FKRP, FKBP14, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, POMT2, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, ALG2, GNE, CRYAB, CHST14, SIL1, TRAPPC11, ORAI1, POMK, DOK7, DAG1, ANO5, DES, ALG14, STAC3, TMEM43, B3GALNT2, DMD, MEGF10, DNM2, DPAGT1, DPM1, DPM2, DPM3, PREPL, KLHL40, DYSF, AGRN, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GBE1, GFPT1, HNRNPDL, HRAS, ITGA7, LAMA2, LAMB2, LAMP2, LARGE1, LMNA, LMOD3, LRP4, MTM1, MUSK, MYF6, MYH2, MYH7, MYL2, NEB, PLEC, BAG3, HACD1, PYGM, RAPSN Specificity 1 % Genes 100 %
Cerebral Cortical Malformation Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...) View the complete list with 34 more genes Panel complete gene list SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2, RTTN, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB4A, TUBB, ERMARD, GMPPB, KIF1BP, WDR62, SRD5A3, POMGNT2, POMK, DCX, B3GALNT2, GPSM2, DYNC1H1, TUBB2B, FKTN, FLNA, AKT3, ADGRG1, KATNB1, KIF2A, KIF5C, LAMA2, LAMC3, LARGE1, ASNS, OCLN, PAFAH1B1, POMT1, RELN Specificity 2 % Genes 100 %
Lissencephaly Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SNAP29, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, NDE1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB, SRD5A3, POMGNT2 , (...) View the complete list with 16 more genes Panel complete gene list SNAP29, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, NDE1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB, SRD5A3, POMGNT2, POMK, DCX, B3GALNT2, DYNC1H1, TUBB2B, FKTN, ISPD, ADGRG1, KATNB1, KIF5C, LAMA2, LAMB1, LARGE1, PAFAH1B1, POMT1, RELN Specificity 3 % Genes 100 %
Comprehensive Lissencephaly Panel. By Genetic Services Laboratory University of Chicago (United States). SNAP29, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB, SRD5A3, POMK, DCX , (...) View the complete list with 14 more genes Panel complete gene list SNAP29, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB, SRD5A3, POMK, DCX, B3GALNT2, DYNC1H1, TUBB2B, FKTN, ISPD, ADGRG1, KATNB1, KIF5C, LAMA2, LAMB1, LARGE1, PAFAH1B1, POMT1, RELN Specificity 3 % Genes 100 %
Cobblestone Lissencephaly Panel. By Genetic Services Laboratory University of Chicago (United States). SNAP29, RXYLT1, B4GAT1, FKRP, ATP6V0A2, POMGNT1, POMT2, GMPPB, SRD5A3, POMK, B3GALNT2, FKTN, ISPD, LAMA2, LAMB1, LARGE1, POMT1 Specificity 6 % Genes 100 %
Congenital Muscular Dystrophy Deletion/Duplication Analysis. By Genetic Services Laboratory University of Chicago (United States). RYR1, RXYLT1, SELENON, SYNE1, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, TRAPPC11, POMGNT2, POMK, DAG1, B3GALNT2, DPM2, DPM3, FKTN, ISPD , (...) View the complete list with 6 more genes Panel complete gene list RYR1, RXYLT1, SELENON, SYNE1, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, TRAPPC11, POMGNT2, POMK, DAG1, B3GALNT2, DPM2, DPM3, FKTN, ISPD, GAA, ITGA7, LAMA2, LARGE1, LMNA, POMT1 Specificity 4 % Genes 100 %
Congenital Muscular Dystrophy Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). RYR1, RXYLT1, SELENON, SYNE1, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, TRAPPC11, POMGNT2, POMK, DAG1, B3GALNT2, DPM1, DPM2, DPM3, FKTN , (...) View the complete list with 7 more genes Panel complete gene list RYR1, RXYLT1, SELENON, SYNE1, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, TRAPPC11, POMGNT2, POMK, DAG1, B3GALNT2, DPM1, DPM2, DPM3, FKTN, ISPD, GAA, ITGA7, LAMA2, LARGE1, LMNA, POMT1 Specificity 4 % Genes 100 %

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Sources and references

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