Multiple Congenital Anomalies-hypotonia-seizures Syndrome 3; Mcahs3

Description

Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.

Clinical Features

Top most frequent phenotypes and symptoms related to Multiple Congenital Anomalies-hypotonia-seizures Syndrome 3; Mcahs3

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus
  • Micrognathia
  • Strabismus
  • Motor delay
  • Myopathy
  • Depressed nasal bridge
And another 44 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Multiple Congenital Anomalies-hypotonia-seizures Syndrome 3; Mcahs3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CHOP Epilepsy Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, CTSD, SLC25A22, ALDH7A1, TPP1, CLN3, WWOX, SLC6A8, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Multiple congenital anomalies-hypotonia-seizures syndrome type 3.

By Centogene AG - the Rare Disease Company in Germany.

PIGT
Specificity
100 %
Genes
100 %
Epilepsy.

By Asper Biogene Asper Biogene LLC in Estonia.

UBE3A, MCCC1, ADSL, TUBB3, POLG, MECP2, GAMT, GATM, STXBP1, SLC25A22, ALG3, SLC9A6, ALDH7A1, MOCS2, MOCS1, WWOX, SLC6A8, ARX, CDKL5, FOXG1 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
PIGT.

By Fulgent Genetics Fulgent Genetics in United States.

PIGT
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %

Alternate names

Multiple Congenital Anomalies-hypotonia-seizures Syndrome 3; Mcahs3 Is also known as glycosylphosphatidylinositol biosynthesis defect 7;gpibd7;congenital disorder of glycosylation due to pigt deficiency; mcahs type 3; multiple congenital anomalies-hypotonia-seizures syndrome type 3; pigt-cdg.



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