MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Heredodegenerative Disorders, Nervous System (D020271)
Parent Node:
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Nervous System Malformations (D009421)
Parent Node:
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Polyneuropathies (D011115)
..Starting node
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Hereditary Sensory and Motor Neuropathy (D015417)

       Child Nodes:
........expandAlstrom Syndrome (D056769)
........expandCardioneuromyopathy with Hyaline Masses and Nemaline Rods (C564655)
........expandCharcot-Marie-Tooth Disease (D002607) Child59  LSDB C:1
........expandGiant Axonal Neuropathy (D056768) Child1
........expandHagemoser Weinstein Bresnick syndrome (C537626)
........expandHereditary Motor And Sensory Neuropathy VI (C562851)  LSDB  L: 00485;
........expandHypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy (C565492)
........expandNeuropathy, Distal Hereditary Motor, Type VIIA (C563562)
........expandNeuropathy, hereditary motor and sensory, Okinawa type (C535717)
........expandNeuropathy, hereditary motor and sensory, Russe type (C535813)
........expandNEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB (OMIM:616505)
........expandNeuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive (C564947)
........expandNeuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance (C563517)
........expandNeuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive (C564948)
........expandNeuropathy, Hereditary Thermosensitive (C566575)
........expandPolyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive (C565773)
........expandRefsum Disease (D012035) Child4
........expandSensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583)  LSDB  L: 00042;
........expandSlowed Nerve Conduction Velocity, Autosomal Dominant (C564269)
........expandSpastic Paraplegia, Hereditary (D015419) Child78
........expandSpastic Paraplegia, Optic Atrophy, and Neuropathy (C563702)
........expandTamari Goodman syndrome (C536896)
........expandTomaculous neuropathy (C536965)
........expandTremor hereditary essential, 2 (C536546)



 Sister Nodes: 
..expand46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy (C567773)
..expandAlcoholic Neuropathy (D020269)
..expandAplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandDeafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
..expandHereditary Sensory and Autonomic Neuropathies (D009477) Child12
..expandHereditary Sensory and Motor Neuropathy (D015417) Child164  LSDB C:3
..expandLaryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy (C565252)
..expandLEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..expandLeukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..expandNeuropathy, Hereditary Sensory, Atypical (C564946)
..expandOptic atrophy polyneuropathy deafness (C537129)
..expandParaneoplastic Polyneuropathy (D020364)
..expandPeripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..expandPOEMS Syndrome (D016878)
..expandPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..expandPolyradiculoneuropathy (D011129) Child18
..expandRibose 5-Phosphate Isomerase Deficiency (C563212)
..expandSevere infantile axonal neuropathy (C537593)
..expandTangier Disease (D013631)
..expandTHIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5590
Name:Hereditary Sensory and Motor Neuropathy
Definition:A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)
Alternative IDs:DO:DOID:2477|OMIM:145900
ParentIDs:MESH:D009421|MESH:D011115|MESH:D020271
TreeNumbers:C10.500.300 |C10.574.500.495 |C10.668.829.800.300 |C16.131.666.300 |C16.320.400.375
Synonyms:Charcot-Marie-Tooth Disease, Demyelinating, Type 4f |Charcot Marie Tooth Disease, Type 3 |Charcot-Marie-Tooth Disease, Type 3 |CMT3 |CMT4f |Dejerine Sottas Disease |Dejerine-Sottas Disease |Dejerine-Sottas Hypertrophic Neuropathy |Dejerine Sottas Neuropathy |Deje
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: D015417
MeSH: D015417
OMIM: 145900;
MSeqDR LSDB:
MSeqDR has 3 matches in descendants: 00042; 00485; 00488;  
Genes: EGR2; MPZ; PMP22; PRX; SLC25A12;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0003593Infantile onset
4 HP:0001284Areflexia
5 HP:0003431Decreased motor nerve conduction velocity
6 HP:0003380Decreased number of peripheral myelinated nerve fibers
7 HP:0003693Distal amyotrophy
8 HP:0002460Distal muscle weakness
NAMDC:  Muscle weakness: distal
9 HP:0002936Distal sensory impairment
10 HP:0009027Foot dorsiflexor weakness
11 HP:0001290Generalized hypotonia
12 HP:0001765Hammertoe
13 HP:0001425Heterogeneous
14 HP:0003382Hypertrophic nerve changes
15 HP:0001265Hyporeflexia
16 HP:0002922Increased CSF protein
17 HP:0002751Kyphoscoliosis
18 HP:0001270Motor delay
19 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
20 HP:0000639NystagmusHP:0040283
21 HP:0003383Onion bulb formation
22 HP:0001761Pes cavus
23 HP:0003481Segmental peripheral demyelination/remyelination
24 HP:0010871Sensory ataxia
NAMDC:  Ataxia sensory
25 HP:0001171Split hand
26 HP:0003376Steppage gait
27 HP:0001178Ulnar claw
28 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter)1959EGR2Uncertain significancers1554853028RCV000662198; RCV000662197; RCV000662196; NMedGen:C1843247,OMIM:607678, Orphanet:ORPHA101084; MedGen:C4721436,OMIM:605253, Orphanet:ORPHA99951; MedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900210645733146457331410:g.64573314G>A-C1843247 607678 Charcot-Marie-Tooth disease, demyelinating, type 1d;
NM_000399.5(EGR2):c.380C>T (p.Pro127Leu)1959EGR2Uncertain significance-1RCV000791192; RCV000791193; NMedGen:C1843247,OMIM:607678, Orphanet:ORPHA101084; MedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900210645740186457401810:g.64574018G>A-
NM_000166.6(GJB1):c.235C>T (p.Leu79=)2705GJB1Benign/Likely benignrs144717157RCV000334402; RCV000790303; RCV000720988; RCV000206696; RCV000435876; NMedGen:CN239255; MedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:111499002; MedGen:C2711754; MedGen:CN517202; MedGen:CN169374X7044379270443792X:g.70443792C>T-
NM_000166.6(GJB1):c.244A>G (p.Ile82Val)2705GJB1Uncertain significance-1RCV000790305; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:111499002X7044380170443801X:g.70443801A>G-
NM_000530.8(MPZ):c.661_662dup (p.Met222fs)4359MPZUncertain significance-1RCV000790111; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900211612757501612757511:g.161275750_161275751insGC-
NM_000530.8(MPZ):c.661G>A (p.Ala221Thr)4359MPZUncertain significance-1RCV000790109; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900211612757521612757521:g.161275752C>T-
NM_000530.8(MPZ):c.558del (p.Arg186fs)4359MPZPathogenicrs1553259568RCV000578395; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900211612761451612761451:g.161276145_161276145del-C0011195 145900 Dejerine-Sottas disease;
NM_000530.8(MPZ):c.522_525del (p.Leu175fs)4359MPZUncertain significance-1RCV000790302; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900211612761781612761811:g.161276178_161276181del-
NM_000530.8(MPZ):c.411C>T (p.Gly137=)4359MPZPathogenicrs1558153994RCV000700482; RCV000789490; NMedGen:C0751036, Orphanet:ORPHA65753,SNOMED CT:398040009; MedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900211612765351612765351:g.161276535G>A-
NM_000530.8(MPZ):c.407T>A (p.Val136Glu)4359MPZUncertain significance-1RCV000790054; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900211612765391612765391:g.161276539A>T-
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)4359MPZUncertain significance-1RCV000789474; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900211612765661612765661:g.161276566C>T-
NM_000530.8(MPZ):c.372_377del (p.Phe125_Thr126del)4359MPZUncertain significance-1RCV000790118; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900211612765691612765741:g.161276569_161276574del-
NM_000530.8(MPZ):c.368G>A (p.Gly123Asp)4359MPZLikely pathogenicrs1553259656RCV000790057; RCV000521410; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:111499002; MedGen:CN51720211612765781612765781:g.161276578C>T-
NM_000530.8(MPZ):c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe)4359MPZUncertain significance-1RCV000789476; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900211612766811612766881:g.161276682_161276688del-
NM_000530.8(MPZ):c.190_192del (p.Phe64del)4359MPZUncertain significance-1RCV000789445; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900211612770901612770921:g.161277090_161277092del-
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)4359MPZUncertain significancers200151353RCV000763755; RCV000763755; RCV000763755; RCV000763755; RCV000763755; RCV000763755; RCV000763755; RCV000236516; NMedGen:C1843075,OMIM:607791; MedGen:C3888087,OMIM:607677; MedGen:C1843153,OMIM:607736; MedGen:C0270912,OMIM:118200, Orphanet:ORPHA101082,SNOMED CT:42986003; MedGen:C4721436,OMIM:605253, Orphanet:ORPHA99951; MedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOME11612771491612771491:g.161277149G>A-
NM_000530.8(MPZ):c.123_125del (p.Val42del)4359MPZUncertain significance-1RCV000789683; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900211612771571612771591:g.161277157_161277159del-
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)5376PMP22Uncertain significancers1022583382RCV000764105; RCV000537684; RCV000764105; RCV000764105; RCV000764105; RCV000764105; RCV000764105; NMedGen:C3495591,OMIM:118300; MedGen:C0751036, Orphanet:ORPHA65753,SNOMED CT:398040009; MedGen:C0270911,OMIM:118220, Orphanet:ORPHA101081,SNOMED CT:40632002; MedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:111499002; MedGen:C4083008,OMIM:139393,Orpha17151342391513423917:g.15134239C>T-C0751036 Charcot-Marie-Tooth disease, type I;
NM_000304.4(PMP22):c.449G>A (p.Gly150Asp)5376PMP22Pathogenicrs879253954RCV000790159; RCV000236879; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:111499002; MedGen:CN51720217151342681513426817:g.15134268C>TUniProtKB (protein):Q01453#VAR_006379
NM_000304.4(PMP22):c.449G>T (p.Gly150Val)5376PMP22Pathogenicrs879253954RCV000499331; RCV000499331; NMedGen:C3495591,OMIM:118300; MedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900217151342681513426817:g.15134268C>A-C1861669 118300 Charcot-Marie-Tooth disease and deafness;
NM_000304.4(PMP22):c.447C>A (p.Ser149Arg)5376PMP22Pathogenicrs775019409RCV000790160; RCV000213954; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:111499002; MedGen:CN51720217151342701513427017:g.15134270G>TUniProtKB (protein):Q01453#VAR_029970
NM_000304.4(PMP22):c.362A>G (p.His121Arg)5376PMP22Uncertain significancers1567698985RCV000844937; RCV000844937; RCV000844937; RCV000844937; RCV000844937; RCV000844937; RCV000712772; NMedGen:C3495591,OMIM:118300; MedGen:C0270911,OMIM:118220, Orphanet:ORPHA101081,SNOMED CT:40632002; MedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:111499002; MedGen:C4083008,OMIM:139393, Orphanet:ORPHA98916; MedGen:C0393814,OMIM:162500, Orphanet:ORPH17151343551513435517:g.15134355T>C-
NM_000304.4(PMP22):c.299G>A (p.Gly100Glu)5376PMP22Uncertain significance-1RCV000789516; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900217151428081514280817:g.15142808C>T-
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg)5376PMP22Uncertain significance-1RCV000790144; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900217151428091514280917:g.15142809C>T-
NM_000304.4(PMP22):c.248_250TCT[1] (p.Phe84del)5376PMP22Uncertain significance-1RCV000857021; RCV000790167; NMedGen:C0007959, Orphanet:ORPHA166,SNOMED CT:50548001; MedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900217151428541514285617:g.15142854_15142856del-
NM_000304.4(PMP22):c.239T>G (p.Leu80Arg)5376PMP22Uncertain significance-1RCV000790155; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900217151428681514286817:g.15142868A>C-
NM_000304.4(PMP22):c.239T>C (p.Leu80Pro)5376PMP22Uncertain significance-1RCV000790176; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900217151428681514286817:g.15142868A>G-
NM_000304.4(PMP22):c.235T>C (p.Ser79Pro)5376PMP22Uncertain significance-1RCV000790146; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900217151428721514287217:g.15142872A>G-
NM_000304.4(PMP22):c.227G>T (p.Ser76Ile)5376PMP22Uncertain significance-1RCV000790175; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900217151428801514288017:g.15142880C>A-
NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)5376PMP22Likely pathogenic-1RCV000802360; RCV000790174; NMedGen:C0751036, Orphanet:ORPHA65753,SNOMED CT:398040009; MedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900217151428921514289217:g.15142892G>C-
NM_000304.4(PMP22):c.214T>C (p.Ser72Pro)5376PMP22Uncertain significance-1RCV000789526; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900217151428931514289317:g.15142893A>G-
NM_000304.4(PMP22):c.212T>C (p.Leu71Pro)5376PMP22Uncertain significance-1RCV000790143; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900217151428951514289517:g.15142895A>G-
NM_000304.4(PMP22):c.56T>C (p.Leu19Pro)5376PMP22Uncertain significance-1RCV000789525; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900217151639891516398917:g.15163989A>G-
NM_000304.4(PMP22):c.36C>A (p.His12Gln)5376PMP22Pathogenicrs104894622RCV000168060; RCV000790177; RCV000008949; RCV000622783; NMedGen:C0751036, Orphanet:ORPHA65753,SNOMED CT:398040009; MedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:111499002; MedGen:C4016264; MeSH:D030342,MedGen:C095012317151640091516400917:g.15164009G>TOMIM Allelic Variant:601097.0008,UniProtKB (protein):Q01453#VAR_006359
NM_020956.2(PRX):c.*4523G>A57716PRXUncertain significancers138437458RCV000785028; RCV000785027; NMedGen:C3540453,OMIM:614895; MedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900219408999414089994119:g.40899941C>T-
NM_020956.2(PRX):c.*3974G>A57716PRXUncertain significancers200332462RCV000819134; RCV000764201; RCV000764201; RCV000236523; NMedGen:C4082197, Orphanet:ORPHA64749,SNOMED CT:715795005; MedGen:C3540453,OMIM:614895; MedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:111499002; MedGen:CN51720219409004904090049019:g.40900490C>T-
NM_020956.2(PRX):c.*3413C>T57716PRXPathogenicrs104894708RCV000701391; RCV000032006; RCV000005061; NMedGen:C4082197, Orphanet:ORPHA64749,SNOMED CT:715795005; MedGen:C3540453,OMIM:614895; MedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900219409010514090105119:g.40901051G>AOMIM Allelic Variant:605725.0008C3540453 614895 Charcot-Marie-Tooth disease, demyelinating, type 4f;
NM_020956.2(PRX):c.*2240C>T57716PRXUncertain significance-1RCV000789680; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900219409022244090222419:g.40902224G>A-
NM_020956.2(PRX):c.*1751C>T57716PRXUncertain significancers144305922RCV000802296; RCV000764202; RCV000764202; RCV000236385; NMedGen:C4082197, Orphanet:ORPHA64749,SNOMED CT:715795005; MedGen:C3540453,OMIM:614895; MedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:111499002; MedGen:CN51720219409027134090271319:g.40902713G>A-
NM_020956.2(PRX):c.*1379C>T57716PRXPathogenicrs773009397RCV000789534; RCV000235669; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:111499002; MedGen:CN51720219409030854090308519:g.40903085G>A-
NM_020956.2(PRX):c.*1217del57716PRXPathogenicrs1555801290RCV000501756; NMedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900219409032474090324719:g.40903247_40903247del-
NM_020956.2(PRX):c.80C>A (p.Thr27Asn)57716PRXUncertain significancers1291881750RCV000791799; RCV000660605; RCV000660605; NMedGen:C4082197, Orphanet:ORPHA64749,SNOMED CT:715795005; MedGen:C3540453,OMIM:614895; MedGen:C0011195,OMIM:145900, Orphanet:ORPHA64748,SNOMED CT:11149900219409097174090971719:g.40909717G>T-C3540453 614895 Charcot-Marie-Tooth disease, demyelinating, type 4f;
MSeqDR Portal