Klinische FragestellungMorbus Hirschsprung, syndromisch; Differentialdiagnose

NGS +

[Sanger]

13. Hirschsprung IN Bardet-Biedl-Syndrom; Knorpel-Haar-Hypoplasie-anauxtische Dysplasie-Spektrum-Störungen; Kongenitales zentrales Hypoventilationssyndrom; Familiäre Dysautonomie (Riley-Day-Syndrom); Fryns-Syndrom; Goldberg-Shprintzen-Syndrom; Intestinale neuronale Dysplasie; L1-Syndrom; MEN 2A/FMTC; MEN 2B; Mowat-Wilson-Syndrom; Neurofibromatose 1; Pitt-Hopkins-Syndrom; Smith-Lemli-Opitz-Syndrom; Smith-Lemli-Opitz-Syndrom

• Alias: Aganglionic megacolon + other symptoms
• Alias: Agangliose + other symptoms
• Alias: Congenital intestinal aganglionosis + other symptoms
• Allelic: Anauxetic dysplasia 1 (RMRP)
• Allelic: CRASH syndrome (L1CAM)
• Allelic: Chorea, hereditary benign (NKX2-1)
• Allelic: Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
• Allelic: Corneal dystrophy, Fuchs endothelial, 3 (TCF4)
• Allelic: Corpus callosum, partial agenesis of (L1CAM)
• Allelic: Hypertension, essential, susceptibility to (ECE1)
• Allelic: MASA syndrome (L1CAM)
• Allelic: McKusick-Kaufman syndrome (MKKS)
• Allelic: Medullary thyroid carcinoma (RET)
• Allelic: Metaphyseal dysplasia without hypotrichosis (RMRP)
• Allelic: Multiple endocrine neoplasia IIA (RET)
• Allelic: Multiple endocrine neoplasia IIB (RET)
• Allelic: Neuroblastoma, susceptibility to, 2 (PHOX2B)
• Allelic: Pheochromocytoma (RET)
• Allelic: Pheochromocytoma, modifier of (GDNF)
• Allelic: Retinitis pigmentosa 51 (TTC8)
• Allelic: Schizophrenia, susceptibility to (NRG1)
• Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
• ABCD syndrome (EDNRB)
• Acrocapitofemoral dysplasia (IHH)
• Bardet-Biedl syndrome 1 (BBS1, -4, -7, -10, -12)
• Bardet-Biedl syndrome 13 (MKS1)
• Bardet-Biedl syndrome 6 (MKKS)
• Bardet-Biedl syndrome 8 (TTC8)
• Brachydactyly, type A1 (IHH)
• Cartilage-hair hypoplasia (RMRP)
• Central hypoventilation syndrome, congenital, with/-out Hirschsprung disease (PHOX2B)
• Culler-Jones syndrome (GLI2)
• Epidermolysis bullosa, junctional 5A, intermediate (ITGB4)
• Epidermolysis bullosa, junctional 5B, with pyloric atresia (ITGB4)
• Episodic ataxia type 8 [panelapp?] (UBR4)
• Glycogen storage disease XIII (ENO3)
• Goldberg-Shprintzen megacolon syndrome (KIFBP)
• Greig cephalopolysyndactyly syndrome (GLI3)
• Hirschsprung disease [panelapp] (CELSR3)
• Hirschsprung disease, cardiac defects + autonomic dysfunction (ECE1)
• Hirschsprung disease, protection against (RET)
• Hirschsprung disease, short-segment aganglionosis (NKX2-1)
• Hirschsprung disease, susceptibility to [panelapp] (DENND3)
• Hirschsprung disease, susceptibility to [panelapp] (GFRA1)
• Hirschsprung disease, susceptibility to [panelapp] (NCLN)
• Hirschsprung disease, susceptibility to [panelapp] (NRG1)
• Hirschsprung disease, susceptibility to [panelapp] (NRG3)
• Hirschsprung disease, susceptibility to [panelapp] (NUP98)
• Hirschsprung disease, susceptibility to [panelapp] (SEMA3C)
• Hirschsprung disease, susceptibility to [panelapp] (SEMA3D)
• Hirschsprung disease, susceptibility to [panelapp] (TBATA)
• Hirschsprung disease, susceptibility to [panelapp] (VCL)
• Hirschsprung disease, susceptibility to, 1 (RET)
• Hirschsprung disease, susceptibility to, 2 (EDNRB)
• Hirschsprung disease, susceptibility to, 3 (GDNF)
• Hirschsprung disease, susceptibility to, 4 (EDN3)
• Hirschsprung disease,HSCR [panelapp] (BACE2)
• Holoprosencephaly 9 (GLI2)
• Hydrocephalus due to aqueductal stenosis (L1CAM)
• Hydrocephalus with Hirschsprung disease (L1CAM)
• Hydrocephalus with congenital idiopathic intestinal pseudoobstruction (L1CAM)
• Joubert syndrome 28 (MKS1)
• Meckel syndrome 1 (MKS1)
• Mowat-Wilson syndrome (ZEB2)
• Neuroblastoma with Hirschsprung disease (PHOX2B)
• PCWH syndrome (SOX10)
• Pallister-Hall syndrome (GLI3)
• Pitt-Hopkins syndrome (TCF4)
• Polydactyly, postaxial, type A8 (GLI1)
• Polydactyly, postaxial, types A1 + B (GLI3)
• Polydactyly, preaxial I (GLI1)
• Polydactyly, preaxial, type IV (GLI3)
• Short-segment Hirschsprung disease [panelapp] (VCL)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Susceptibility to Hirschsprung disease [panelapp] (NRTN)
• Susceptibility to Hirschsprung disease [panelapp] (PSPN)
• Visceral neuropathy, familial, 2, AR (ERBB2)
• Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
• Waardenburg syndrome, type 4A (EDNRB)
• Waardenburg syndrome, type 4B (EDN3)
• Waardenburg syndrome, type 4C (SOX10)