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ErkrankungPena-Shokeir-Syndrom I, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Pena-Shokeir-Syndrom I mit 4 bzw. zusammen genommen 42 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
PP0390
Anzahl Gene
41 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
7,7 kb (Core-/Basis-Gene)
125,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
DOK71515AR
MUSK2610AR
NUP882291AR
RAPSN1239AR
ACTA11134AD und/oder AR
BICD22568AD
BIN11782AR
CHRNA11374AD und/oder AR
CHRNB11506AD und/oder AR
CHRND1554AD und/oder AR
CHRNG1554AR
CNTN13057AR
DMPK1920AD
DPAGT11227AR
ECEL12328AR
EGR21431AD und/oder AR
ERBB34029AD und/oder AR
FGFR22466AD und/oder Sus
FKRP1488AR
FOXP31296XLR
GBE12109AR
GLE12097AR
KLHL401866AR
LMNA1995AD und/oder AR und/oder Dig
MPZ747AD und/oder AR
MTM11812XLR
MYBPC13516AD und/oder AR
MYH35823AD und/oder AR
MYH85814AD
MYOD1963AR
NALCN5217AD und/oder AR
PDHA11173XLD
PIP5K1C2007AR
RYR115117AD und/oder AR
SCN4A5511AD und/oder AR und/oder Ass
SYNE126250AD und/oder AR
TNNI2549AD
TNNT3777AD
TPM2855AD
TUBB2B1338AD
ZMPSTE241428AR

Infos zur Erkrankung

Klinischer Kommentar

Multiple Gelenkkontrakturen, Gesichtsanomalien, pulmonale Hypoplasie; gemeinsames Merkmal verminderte fötale Aktivität

doi: 10.2147/TACG.S154643

 

Synonyme
  • Alias: Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
  • Allelic: Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
  • Allelic: Spastic ataxia 1, AD (VAMP1)
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
  • Apert syndrome (FGFR2)
  • Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
  • Arthrogryposis multiplex congenita 6 (NEB)
  • Arthrogryposis, distal, type 1A (TPM2)
  • Arthrogryposis, distal, type 1B (MYBPC1)
  • Arthrogryposis, distal, type 2A (Freeman-Sheldon] (MYH3)
  • Arthrogryposis, distal, type 2B1 (TNNI2)
  • Arthrogryposis, distal, type 2B2 (TNNT3)
  • Arthrogryposis, distal, type 2B3, Sheldon-Hall (MYH3)
  • Arthrogryposis, distal, type 2B4 (TPM2)
  • Arthrogryposis, distal, type 5 (ECEL1)
  • Beare-Stevenson cutis gyrata syndrome (FGFR2)
  • Bent bone dysplasia syndrome (FGFR2)
  • CAP myopathy 2 (TPM2)
  • Carney complex variant (MYH8)
  • Central core disease (RYR1)
  • Centronuclear myopathy 2 (BIN1)
  • Charcot-Marie-Tooth disease, type 1D (EGR2)
  • Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Combined D-2- and L-2-hydroxyglutaric aciduria (SLC25A1)
  • Congenital arthrogryposis with anterior horn cell disease (GLE1)
  • Congenital contractures of the limbs + face, hypotonia + developmental delay (NALCN)
  • Congenital disorder of glycosylation, type Ij (DPAGT1)
  • Contractures, pterygia + spondylocarpotarsal fusion syndrome 1A (MYH3)
  • Contractures, pterygia + spondylocarpotarsal fusion syndrome 1B
  • Cortical dysplasia, complex, with other brain malformations (TUBB2B)
  • Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
  • Crouzon syndrome (FGFR2)
  • Dejerine-Sottas disease (EGR2)
  • Dejerine-Sottas disease (MPZ)
  • Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
  • Escobar syndrome (CHRNG)
  • Fetal akinesia deformation sequence 1 (MUSK)
  • Fetal akinesia deformation sequence 2 (RAPSYN)
  • Fetal akinesia deformation sequence 3 (DOK7)
  • Fetal akinesia deformation sequence 4 (NUP88)
  • Glycogen storage disease IV (GBE1)
  • Hutchinson-Gilford progeria (LMNA)
  • Hyperkalemic periodic paralysis, type 2 (SCN4A)
  • Hypokalemic periodic paralysis, type 2 (SCN4A)
  • Hypomyelinating neuropathy, congenital, 1 (EGR2)
  • Hypomyelinating neuropathy, congenital, 2 (MPZ)
  • Hypotonia, infantile, with psychomotor retardation + characteristic facies 1 (NALCN)
  • Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
  • Jackson-Weiss syndrome (FGFR2)
  • King-Denborough syndrome (RYR1)
  • LADD syndrome (FGFR2)
  • Lethal congenital contractural syndrome 2 (ERBB3)
  • Lethal congenital contractural syndrome 3 (PIP5K1C)
  • Lethal congenital contracture syndrome (GLE1)
  • Lethal congenital contracture syndrome 4 (MYBPC1)
  • Malouf syndrome (LMNA)
  • Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
  • Minicore myopathy with external ophthalmoplegia (RYR1)
  • Multiple pterygium syndrome, lethal type (CHRNA1)
  • Multiple pterygium syndrome, lethal type (CHRND)
  • Multiple pterygium syndrome, lethal type (CHRNG)
  • Muscular dystrophy, congenital (LMNA)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
  • Myasthenic syndrome, congenital, 10 (DOK7)
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (RAPSYN)
  • Myasthenic syndrome, congenital, 13, with tubular aggregates (DPAGT1)
  • Myasthenic syndrome, congenital, 16 (SCN4A)
  • Myasthenic syndrome, congenital, 19 (COL13A1)
  • Myasthenic syndrome, congenital, 1A, slow-channel (CHRNA1)
  • Myasthenic syndrome, congenital, 1B, fast-channel (CHRNA1)
  • Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
  • Myasthenic syndrome, congenital, 21, presynaptic (SLC18A3)
  • Myasthenic syndrome, congenital, 23, presynaptic (SLC25A1)
  • Myasthenic syndrome, congenital, 25 (VAMP1)
  • Myasthenic syndrome, congenital, 2A, slow-channel (CHRNB1)
  • Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CHRNB1)
  • Myasthenic syndrome, congenital, 3A, slow-channel (CHRND)
  • Myasthenic syndrome, congenital, 3B, fast-channel (CHRND)
  • Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CHRND)
  • Myasthenic syndrome, congenital, 4A, slow-channel (CHRNE)
  • Myasthenic syndrome, congenital, 4B, fast-channel (CHRNE)
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CHRNE)
  • Myasthenic syndrome, congenital, 5 (COLQ)
  • Myasthenic syndrome, congenital, 6, presynaptic (CHAT)
  • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects (AGRN)
  • Myasthenic syndrome, congenital, 9, ass. w. acetylcholine receptor deficiency (MUSK)
  • Myopathy, actin, congenital, with cores (ACTA1)
  • Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
  • Myopathy, cong. with diaphragmatic defects, respiratory insufficiency + dysmorphic face (MYOD1)
  • Myopathy, congenital, Compton-North (CNTN1)
  • Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
  • Myopathy, congenital, with tremor (MYNPC1)
  • Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
  • Myotonic dystrophy 1 (DMPK)
  • Myotubular myopathy, XL (MTM1)
  • Nemaline myopathy 2, AR (NEB)
  • Nemaline myopathy 3, AD/AR (ACTA1)
  • Nemaline myopathy 4, AD (TPM2)
  • Nemaline myopathy 8, AR (KLHL40)
  • Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
  • Paramyotonia congenita (SCN4A))
  • Pfeiffer syndrome (FGFR2)
  • Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
  • Restrictive dermopathy, lethal (LMNA)
  • Restrictive dermopathy, lethal (ZMPSTE24)
  • Roussy-Levy syndrome (MPZ)
  • Saethre-Chotzen syndrome (FGFR2)
  • Spinal muscular atrophy, lower extremity-predominant, 2A, AD (BICD2)
  • Spinal muscular atrophy, lower extremity-predominant, 2B, AD (BICD2)
  • Spinocerebellar ataxia, AR 8 (SYNE1)
  • Trismus-pseudocamptodactyly syndrome (MYH8)
  • Visceral neuropathy, familial, 1, AR (ERBB3)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Ass
  • AD und/oder AR und/oder Dig
  • AD und/oder Sus
  • AR
  • XLD
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.-

Bioinformatik und klinische Interpretation

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