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)
125,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
DOK7 | 1515 | AR | |
MUSK | 2610 | AR | |
NUP88 | 2291 | AR | |
RAPSN | 1239 | AR | |
ACTA1 | 1134 | AD und/oder AR | |
BICD2 | 2568 | AD | |
BIN1 | 1782 | AR | |
CHRNA1 | 1374 | AD und/oder AR | |
CHRNB1 | 1506 | AD und/oder AR | |
CHRND | 1554 | AD und/oder AR | |
CHRNG | 1554 | AR | |
CNTN1 | 3057 | AR | |
DMPK | 1920 | AD | |
DPAGT1 | 1227 | AR | |
ECEL1 | 2328 | AR | |
EGR2 | 1431 | AD und/oder AR | |
ERBB3 | 4029 | AD und/oder AR | |
FGFR2 | 2466 | AD und/oder Sus | |
FKRP | 1488 | AR | |
FOXP3 | 1296 | XLR | |
GBE1 | 2109 | AR | |
GLE1 | 2097 | AR | |
KLHL40 | 1866 | AR | |
LMNA | 1995 | AD und/oder AR und/oder Dig | |
MPZ | 747 | AD und/oder AR | |
MTM1 | 1812 | XLR | |
MYBPC1 | 3516 | AD und/oder AR | |
MYH3 | 5823 | AD und/oder AR | |
MYH8 | 5814 | AD | |
MYOD1 | 963 | AR | |
NALCN | 5217 | AD und/oder AR | |
PDHA1 | 1173 | XLD | |
PIP5K1C | 2007 | AR | |
RYR1 | 15117 | AD und/oder AR | |
SCN4A | 5511 | AD und/oder AR und/oder Ass | |
SYNE1 | 26250 | AD und/oder AR | |
TNNI2 | 549 | AD | |
TNNT3 | 777 | AD | |
TPM2 | 855 | AD | |
TUBB2B | 1338 | AD | |
ZMPSTE24 | 1428 | AR |
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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