Klinische FragestellungAutismus II, Differentialdiagnose

1. array, 2. FRAX, 3. Gene: MECP2, PTEN empfohlen ACMG guidelines NGS + [Sanger]

Autismus Spektrum Erkrankungen (ASD) sind Entwicklungsstörungen mit besonderen sozialen, kommunikativen und Verhaltensproblemen. Genetische Veränderungen stellen neben anderen meist unbekannten Ursachen Risikofaktoren für die Entwicklung von ASD dar. ASD zeigen sich in frühester Kindheit, viermal häufiger bei Knaben als Mädchen. Die Vererbung ist in aller Regel multifaktoriell, d.h. mehrere Gene interagieren in komplexer Art und Weise miteinander sowie mit Umwelteinflüssen. Unauffällige genetische Befunde sind eher die Regel.

Referenz: https://www.awmf.org/leitlinien/detail/ll/028-018.html

• Alias: Autism spectrum disorder, ASD
• Alias: Autistic continuum
• Alias: Pervasive developmental disorder
• Allelic: Cardiac arrhythmia, ankyrin-B-related (ANK2)
• Allelic: Cone-rod dystrophy 7 (RIMS1)
• Allelic: Deafness, AR 97 (MET)
• Allelic: Episodic ataxia, type 9 (SCN2A)
• Allelic: Erythermalgia, primary (SCN9A)
• Allelic: Hyperaldosteronism, familial, type IV (CACNA1H)
• Allelic: Insensitivity to pain, congenital (SCN9A)
• Allelic: Long QT syndrome 4 (ANK2)
• Allelic: Neuropathy, hereditary sensory and autonomic, type IID (SCN9A)
• Allelic: Paroxysmal extreme pain disorder (SCN9A)
• Allelic: Pseudohypoaldosteronism, type IIE (CUL3)
• Allelic: Schizophrenia 15 (SHANK3)
• Allelic: Seizures, benign familial infantile, 3 (SCN2A)
• Allelic: Sinoatrial node dysfunction + deafness (CACNA1D)
• Allelic: Small fiber neuropathy (SCN9A)
• Allelic: VATER association, macrocephaly, ventriculomegaly; Susceptibility to tumor types (PTEN)
• Adenylosuccinase deficiency (ADSL)
• Angelman syndrome (UBE3A)
• Asperger syndrome susceptibility, XL 1 (NKGN3)
• Autism susceptibility 17 (SKANK2)
• Autism susceptibility 18 (CHD8)
• Autism susceptibility, XL 1 (NLGN3)
• Autism susceptibility, XL 3 (MECP2)
• Autism susceptibility, XL 4 (PTCHD1)
• Bainbridge-Ropers syndrome (ASXL3)
• Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDK)
• Coffin-Siris syndrome 1 (ARID1B)
• Coffin-Siris syndrome 8 (SMARCC2)
• Corneal dystrophy, Fuchs endothelial, 3 (TCF4)
• Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1 (CNTNAP2)
• Desanto-Shinawi syndrome (WAC)
• Developmental + epileptic encephalopathy 11 (SCN2A)
• Developmental + epileptic encephalopathy 27 (GRIN2B)
• Developmental + epileptic encephalopathy 43 (GABRB3)
• Developmental + epileptic encephalopathy 94 (CHD2)
• Developmental delay with variable intellectual impairment + behavioral abnormalities (TCF20)
• Dias-Logan syndrome (BCL11A)
• Down syndrome + congenital heart disease [OMIM] (DSCAM)
• Encephalopathy, neonatal severe; Angelman syndrome (MECP2)
• Epilepsy, childhood absence, susceptibility to, 5 (GABRB3)
• Epilepsy, childhood absence, susceptibility to, 6 (CACNA1H)
• Epilepsy, familial temporal lobe, 7 (RELN)
• Epilepsy, idiopathic generalized, susceptibility to, 6 (CACNA1H)
• Floating-Harbor syndrome (SOCAP)
• Fragile X syndrome (FMR1_CCG)
• Fraser syndrome 3 (GRIP1)
• Global developmental delay with speech + behavioral abnormalities (TNRC6B)
• Global developmental delay with/-out impaired intellectual development (CUX1)
• Hao-Fountain syndrome (USP7)
• Helsmoortel-Van der Aa syndrome; Mental retardation AD, 28 (ADNP)
• Impaired intellectual development, distinctive facial features with/-out cardiac defects (MED13L)
• Intellectual developmental disorder 61 (MED13)
• Intellectual developmental disorder with autism + speech delay (TBR1)
• Intellectual developmental disorder with speech delay, autism, dysmorphic facies (CNOT3)
• Intellectual developmental disorder, AD 44, with microcephaly (TRIO)
• Intellectual developmental disorder, AD 50, with behavioral abnormalities (NAA15)
• Intellectual developmental disorder, AD 6, with/-out seizures (GRIN2B)
• Intellectual developmental disorder, AD 63, with macrocephaly (TRIO)
• Intellectual developmental disorder, AD 64 (ZNF292)
• Intellectual developmental disorder, XL 72 (RAB398)
• Intellectual developmental disorder, XL syndrome, Snijders Blok type (DDX3X)
• Intellectual developmental disorder, XL syndromic 13 (MECP2)
• Intellectual developmental disorder, XL syndromic 14 (UPF3)
• Intellectual developmental disorder, XL syndromic 14 (UPF3B)
• Intellectual developmental disorder, XL syndromic, Lubs type (MECP2)
• KBG syndrome (ANKRD11)
• Kabuki syndrome 2 (KDM6A)
• Kleefstra syndrome 2 (KMT2C)
• Lissencephaly 2, Norman-Roberts type (RELN)
• Lujan-Fryns syndrome (MED12)
• Macrocephaly/autism syndrome (PTEN)
• Mental retardation with language impairment + autistic features, MRLIAF (FOXP1)
• Mental retardation, AD 23 (SETD5)
• Mental retardation, AD 26 (AUTS2)
• Mental retardation, AD 39 (MYT1L)
• Mental retardation, AD 41 (TBL1XR1)
• Mental retardation, AD 45 (CIC)
• Mental retardation, AD 49 (TRIP12)
• Mental retardation, AD 5 (SYNGAP1)
• Mental retardation, AD 51 (KMT5B)
• Mental retardation, AD 52 (ASH1L)
• Mental retardation, AD 7 (DYRK1A)
• Mental retardation, AR 57 (MBOAT7)
• Mental retardation, AR 65 (KDM5B)
• Microcephaly 18, primary, AD (WDFY3)
• Myoclonic-atonic epilepsy (SLC6A1)
• Neurodevelopmental disorder with hypotonia, impaired expressive language +/- seizures (DEAF1)
• Neurodevelopmental disorder with regression, abnormal movements, loss of speech, seizures (IRF2BPL)
• Neurodevelopmental disorder with/-out autism or seizures (CUL3)
• Ohdo syndrome, XL (MED12)
• Opitz-Kaveggia syndrome (MED12)
• Parkinson disease 11 (GIGYF2)
• Phelan-McDermid syndrome - Rett syndrome-like phenotype (SHANK3)
• Phenylketonuria (PAH)
• Pierpont syndrome (TBL1XR1)
• Pitt-Hopkins syndrome (TCF4)
• Pitt-Hopkins-like syndrome 2 (NRXN1)
• Primary aldosteronism, seizures, + neurologic abnormalities (CACNA1D)
• Rett syndrome (MECP2)
• Rett syndrome, atypical (MECP2)
• Rett syndrome, preserved speech variant (MECP2)
• Schaaf-Yang syndrome (MAGEL2)
• Schizophrenia 15 (SHANK3)
• Schizophrenia, susceptibility to, 17 (NRXN1)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Spastic paraplegia 4, AD (SPAST)
• Syndromic intellectual disability (AUTS2)
• Tourette syndrome; Epileptic encephalopathy, childhood-onset (CHD2)
• Tuberous sclerosis-1 + -2 (TSC1, TSC2)
• Vulto-van Silfout-de Vries syndrome (DEAF1)
• Waisman syndrome (RAB398)
• White-Sutton syndrome (POGZ)
• Wiedemann-Steiner syndrome (KMT2A)