Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2; Empf2

Description

Encephalopathy due to defective mitochondrial and peroxisomal fission-2 is an autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy (summary by Koch et al., 2016).For a discussion of genetic heterogeneity of EMPF, see EMPF1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2; Empf2

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy
  • Hyperreflexia
  • Optic atrophy
  • Dysphagia
And another 16 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.


Mendelian

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Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2; Empf2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
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 %
Mitochondrial encephalomyopathy.

By Centogene AG - the Rare Disease Company in Germany.

MFF
Specificity
100 %
Genes
100 %
MFF.

By Fulgent Genetics Fulgent Genetics in United States.

MFF
Specificity
100 %
Genes
100 %

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