Klinische FragestellungGastroenterologische neuromuskuläre Störungen, Differentialdiagnose

NGS +

• Alias: Mitochondrial DNA depletion syndrome 4B [MNGIE type]
• Alias: Mitochondrial DNA maintenance defects
• Alias: Mmitochondrial neurogastrointestinal encephalopathy (MNGIE)-like
• Allelic: Alpha-thalassemia myelodysplasia syndrome, somatic (ATRX)
• Allelic: Alpha-thalassemia/mental retardation syndrome (ATRX)
• Allelic: Aortic aneurysm, familial thoracic 6 (ACTA2)
• Allelic: CRASH syndrome (L1CAM)
• Allelic: Cardiac valvular dysplasia, XL (FLNA)
• Allelic: Cardiomyopathy, dilated, 1I (DES)
• Allelic: Cardiomyopathy, dilated, 3B (DMD)
• Allelic: Central hypoventilation syndrome (GDNF)
• Allelic: Central hypoventilation syndrome, congenital (RET)
• Allelic: Corpus callosum, partial agenesis of (L1CAM)
• Allelic: Cowden syndrome 1 (PTEN)
• Allelic: Episodic pain syndrome, familial, 3 (SCN11A)
• Allelic: FG syndrome 2 (FLNA)
• Allelic: Frontometaphyseal dysplasia 1 (FLNA)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: Heterotopia, periventricular, 1 (FLNA)
• Allelic: Hydrocephalus due to aqueductal stenosis (L1CAM)
• Allelic: Lhermitte-Duclos syndrome (PTEN)
• Allelic: MASA syndrome (L1CAM)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Medullary thyroid carcinoma (RET)
• Allelic: Melnick-Needles syndrome (FLNA)
• Allelic: Meningioma (PTEN)
• Allelic: Mitochondrial DNA depletion s. 8A [encephalomyopathic with renal tubulopathy] (RRM2B)
• Allelic: Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
• Allelic: Mitochondrial recessive ataxia syndrome (includes SANDO + SCAE (POLG)
• Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 2 (SAMD9)
• Allelic: Moyamoya disease 5 (ACTA2)
• Allelic: Multiple endocrine neoplasia IIA (RET)
• Allelic: Multiple endocrine neoplasia IIB (RET)
• Allelic: Otopalatodigital syndrome, type I (FLNA)
• Allelic: Otopalatodigital syndrome, type II (FLNA)
• Allelic: Pheochromocytoma (RET)
• Allelic: Pheochromocytoma, modifier of (GDNF)
• Allelic: Progressive external ophthalmoplegia, AD 1 (POLG)
• Allelic: Progressive external ophthalmoplegia, AR 1 (POLG)
• Allelic: Prostate cancer, somatic (PTEN)
• Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Allelic: Terminal osseous dysplasia (FLNA)
• Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
• Becker muscular dystrophy (DMD)
• Congenital short bowel syndrome (CLMP)
• Congenital short bowel syndrome (FLNA)
• Duchenne muscular dystrophy (DMD)
• Gut dysmotility, spasticity, ataxia, neurogenic bladder, mtDNA depletion [panelapp] (LIG3)
• Hirschsprung disease, protection against (RET)
• Hirschsprung disease, susceptibility to, 1 (RET)
• Hirschsprung disease, susceptibility to, 3 (GDNF)
• Hydrocephalus with Hirschsprung disease (L1CAM)
• Hydrocephalus with congenital idiopathic intestinal pseudoobstruction (L1CAM)
• Intestinal pseudoobstruction, neuronal (FLNA)
• MIRAGE syndrome (SAMD9)
• Mental retardation-hypotonic facies syndrome, XL (ATRX)
• Mitochondrial DNA depletion syndrome 1 [MNGIE type] (TYMP)
• Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
• Mitochondrial DNA depletion syndrome 8B [MNGIE type] (RRM2B)
• Mitochondrial complex V [ATP synthase] deficiency, nuclear type 2 (TMEM70)
• Mucopolysaccharidosis II (IDS)
• Multisystemic smooth muscle dysfunction syndrome (ACTA2)
• Myopathy, myofibrillar, 1 (DES)
• Neuropathy, hereditary sensory + autonomic, type VII (SCN11A)
• Peripheral demyel. neuropathy, central dysmyel., Waardenburg . + Hirschsprung d. [PCWH] (SOX10)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 5 (RRM2B)
• Visceral myopathy (ACTG2)