IllnessNeuronopathy / muscular atrophy, distal hereditary; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Neuronopathy/ muscular atrophy, distal hereditary, comprising 4 core genes, 6 core candidate genes and altogether 29 curated genes according to the clinical signs
ID
MP0450
Number of genes
26
Accredited laboratory test
Examined sequence length
19,4 kb (Core-/Core-canditate-Genes)
71,6 kb (Extended panel: incl. additional genes)
71,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
BICD2 | 2568 | NM_001003800.2 | AD | |
BSCL2 | 1197 | NM_032667.6 | AD | |
DHTKD1 | 2760 | NM_018706.7 | AD | |
DNAJB2 | 834 | NM_001039550.2 | AR | |
GARS1 | 2220 | NM_002047.4 | AD | |
HSPB1 | 618 | NM_001540.5 | AD | |
IGHMBP2 | 2982 | NM_002180.3 | AR | |
MFN2 | 2274 | NM_014874.4 | AD, AR | |
SYT2 | 1260 | NM_177402.5 | AD | |
TRPV4 | 2616 | NM_021625.5 | AD | |
AARS1 | 2927 | NM_001605.3 | AD | |
AR | 2763 | NM_000044.6 | XLR | |
ARHGEF10 | 4035 | NM_014629.4 | AD | |
ATP7A | 4503 | NM_000052.7 | XLR | |
CHCHD10 | 429 | NM_213720.3 | AD | |
DCTN1 | 3837 | NM_004082.5 | AD | |
DYNC1H1 | 13941 | NM_001376.5 | AD | |
FBXO38 | 2832 | NM_001271723.2 | AD | |
HSPB8 | 591 | NM_014365.3 | AD | |
PLEKHG5 | 3189 | NM_020631.6 | AR | |
REEP1 | 606 | NM_022912.3 | AD | |
SLC52A3 | 1410 | NM_033409.4 | AR | |
SLC5A7 | 1743 | NM_021815.5 | AD | |
SMN1 | 885 | NM_000344.4 | AR | |
SPG11 | 7332 | NM_025137.4 | AR | |
VRK1 | 1191 | NM_003384.3 | AR |
Informations about the disease
Clinical Comment
Heterogeneous disorders caused by lower motor neuron dysfunction with length-dependent motor weakness + atrophy, initially affecting intrinsic foot muscles + peroneal compartment of legs, frequently leading to foot deformities, pes cavus, planus, clawing of toes
https://n.neurology.org/content/neurology/early/2017/03/01/WNL.0000000000003772.full.pdf
Synonyms
- Alias: dHMN distal Hereditary MotoNeuropathy
- Allelic: Alpha-aminoadipic + alpha-ketoadipic aciduria (DHTKD1)
- Allelic: Amyotrophic lateral sclerosis 8 (VAPB)
- Allelic: Amyotrophic lateral sclerosis, susceptibility to (DCTN1)
- Allelic: Androgen insensitivity (AR)
- Allelic: Androgen insensitivity, partial, +/- breast cancer (AR)
- Allelic: Boucher-Neuhauser syndrome (PNPLA6)
- Allelic: Developmental and epileptic encephalopathy 29 (AARS1)
- Allelic: Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
- Allelic: Farber Lipogranulomatosis (ASAH1)
- Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
- Allelic: Hypospadias 1, XL (AR)
- Allelic: Leukoencephalopathy, hereditary diffuse, with spheroids 2 (AARS1)
- Allelic: Lipodystrophy, congenital generalized, type 2 (BSCL2)
- Allelic: Muscular dystrophy, congenital, Davignon-Chauveau type (TRIP4)
- Allelic: Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
- Allelic: Myopathy, isolated mitochondrial, AD (CHCHD10)
- Allelic: Primary lateral sclerosis, juvenile (ALS2)
- Allelic: Trichothiodystrophy 8, nonphotosensitive (AARS1)
- Allelic: VEXAS syndrome, somatic (UBA1)
- Amyotrophic lateral sclerosis 2, juvenile (ALS2)
- Amyotrophic lateral sclerosis 5, juvenile (SPG11)
- Brown-Vialetto-Van Laere syndrome 1 (SLC52A3)
- Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
- Charcot-Marie-Tooth disease, axonal, type 2F (HSPB1)
- Charcot-Marie-Tooth disease, axonal, type 2L (HSPB8)
- Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
- Charcot-Marie-Tooth disease, axonal, type 2Q (DHTKD1)
- Charcot-Marie-Tooth disease, axonal, type 2S (IGHMBP2)
- Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
- Charcot-Marie-Tooth disease, type 2D (GARS1)
- Distal hereditary motor neuropathy
- Distal spinal muscular atrophy
- Fazio-Londe disease (SLC52A3)
- Hereditary motor + sensory neuropathy VIA (MFN2)
- Hereditary motor + sensory neuropathy, type IIc (TRPV4)
- Laurence-Moon syndrome (PNPLA6)
- Myasthenic syndrome, congenital, 7A, presynaptic, distal motor neuropathy, AD (SYT2)
- Myasthenic syndrome, congenital, 7B, presynaptic, AR (SYT2)
- Neuronopathy, distal hereditary motor, type IIA (HSPB8)
- Neuronopathy, distal hereditary motor, type IIB (HSPB1)
- Neuronopathy, distal hereditary motor, type IIC (HSPB3)
- Neuronopathy, distal hereditary motor, type IID (FBXO38)
- Neuronopathy, distal hereditary motor, type IX (WARS1)
- Neuronopathy, distal hereditary motor, type VA (GARS1)
- Neuronopathy, distal hereditary motor, type VB (REEP1)
- Neuronopathy, distal hereditary motor, type VI (IGHMBP2)
- Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
- Neuronopathy, distal hereditary motor, type VIIB (DCTN1)
- Neuronopathy, distal hereditary motor, type VIII (TRPV4)
- Neuropathy, distal hereditary motor, type VA (BSCL2)
- Oliver-McFarlane syndrome (PNPLA6)
- Perry syndrome (DCTN1)
- Pontocerebellar hypoplasia type 1A (VRK1)
- Pontocerebellar hypoplasia, type 1B (EXOSC3)
- Pontocerebellar hypoplasia, type 1C (EXOSC8)
- SMA, distale Form
- Silver spastic paraplegia syndrome (BSCL2)
- Slowed nerve conduction velocity, AD (ARHGEF10)
- Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORD)
- Spastic paralysis, infantile onset ascending (ALS2)
- Spastic paraplegia 11, AR (SPG11)
- Spastic paraplegia 31, AD (REEP1)
- Spastic paraplegia 39, AR (PNPLA6)
- Spinal + bulbar muscular atrophy of Kennedy (AR_CAG)
- Spinal and bulbar muscular atrophy of Kennedy (AR)
- Spinal muscular atrophy with congenital bone fractures 1 (TRIP4)
- Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
- Spinal muscular atrophy, Jokela type (CHCHD10)
- Spinal muscular atrophy, XL 2, infantile (UBA1)
- Spinal muscular atrophy, distal, AR, 2 (SIGMAR1)
- Spinal muscular atrophy, distal, AR, 4 (PLEKHG5)
- Spinal muscular atrophy, distal, AR, 5 (DNAJB2)
- Spinal muscular atrophy, distal, XL 3 (ATP7A)
- Spinal muscular atrophy, late-onset, Finkel type (VAPB)
- Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
- Spinal muscular atrophy, lower extremity-predominant, 2A, AD (BICD2)
- Spinal muscular atrophy, lower extremity-predominant, 2B, AD (BICD2)
- Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
Heredity, heredity patterns etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G12.8
Bioinformatics and clinical interpretation
No text defined