MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Heredodegenerative Disorders, Nervous System (D020271)
Parent Node:
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Muscular Atrophy, Spinal (D009134)
..Starting node
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Spinal Muscular Atrophies of Childhood (D014897)

       Child Nodes:
........expandAmyotrophy, monomelic (C538253)
........expandHamano Tsukamoto syndrome (C535625)
........expandSPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
........expandSPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
........expandSpinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
........expandSPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
........expandSpinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant (C563560)
........expandSpinal Muscular Atrophy, Distal, Autosomal Recessive, 4 (C567023)
........expandSpinal Muscular Atrophy, Type I, with Congenital Bone Fractures (C564805)



 Sister Nodes: 
..expandBulbo-Spinal Atrophy, X-Linked (D055534) Child1
..expandCamptocormia (C537968)
..expandDistal Hereditary Motor Neuropathy, Type II (C580044)
..expandENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
..expandNeuronopathy, Distal Hereditary Motor, Type I (C566675)
..expandNeuronopathy, Distal Hereditary Motor, Type IIB (C567084)
..expandNEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
..expandNeuronopathy, Distal Hereditary Motor, Type V (C563443)
..expandNeuronopathy, Distal Hereditary Motor, Type Viib (C564362)
..expandNeuropathy, Distal Hereditary Motor, Type IIA (C563561)
..expandNeuropathy, Distal Hereditary Motor, Type VIIA (C563562)
..expandSCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
..expandScapuloperoneal Syndrome, Neurogenic, Kaeser Type (C566695)
..expandSpinal Muscular Atrophies of Childhood (D014897) Child7
..expandSpinal muscular atrophy 4 (C538417)
..expandSpinal Muscular Atrophy with Mental Retardation (C564807)
..expandSpinal muscular atrophy with respiratory distress 1 (C536880)
..expandSpinal Muscular Atrophy, Distal, Autosomal Recessive, 3 (C564626)
..expandSPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 (OMIM:614881)
..expandSpinal Muscular Atrophy, Distal, Congenital Nonprogressive (C563981)
..expandSpinal Muscular Atrophy, Distal, X-Linked 3 (C564506)
..expandSpinal Muscular Atrophy, Facioscapulohumeral Type (C566674)
..expandSpinal muscular atrophy, Jerash type (C535715)
..expandSPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
..expandSpinal Muscular Atrophy, Late-Onset, Finkel Type (C566673)
..expandSpinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant (C566672)
..expandSpinal muscular atrophy, Ryukyuan type (C536881)
..expandSpinal Muscular Atrophy, Segmental (C566670)
..expandSpinal Muscular Atrophy, Type IV (C563948)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11513
Name:Spinal Muscular Atrophies of Childhood
Definition:A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)
Alternative IDs:DO:DOID:0060160|DO:DOID:12376|DO:DOID:13137|OMIM:158600|OMIM:253300|OMIM:253400|OMIM:253550
ParentIDs:MESH:D009134|MESH:D020271
TreeNumbers:C10.228.854.468.800 |C10.574.500.812 |C10.574.562.500.750 |C10.668.467.500.750 |C16.320.400.765
Synonyms:HMN (Hereditary Motor Neuropathy) Proximal Type I |Infantile Muscular Atrophy |Infantile Spinal Muscular Atrophy |Juvenile Muscular Atrophy |Juvenile Spinal Muscular Atrophy |Kugelberg Welander Disease |Kugelberg-Welander Disease |Kugelberg Welander Syndrome |Ku
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: D014897
MeSH: D014897
OMIM: 253400;
MSeqDR LSDB:  
Genes: DYNC1H1; SMN1; SMN2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002522Areflexia of lower limbs
3 HP:0002398Degeneration of anterior horn cells
4 HP:0003457EMG abnormality
5 HP:0002378Hand tremor
6 HP:0001265Hyporeflexia
7 HP:0007289Limb fasciculations
8 HP:0003394Muscle cramps
9 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
10 HP:0003676Progressive
11 HP:0007269Spinal muscular atrophy
12 HP:0001308Tongue fasciculations
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000344.4(SMN1):c.5C>G (p.Ala2Gly)6606SMN1Pathogenicrs1554066397RCV000009739|RCV000009740|RCV000517884; NMONDO:MONDO:0009673,MedGen:C0393538,OMIM:253550, Orphanet:70, Orphanet:83418|MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419|MedGen:CN51720257022093570220935CG5:g.70220935C>GClinGen:CA254681,UniProtKB:Q16637#VAR_005615,OMIM:600354.0006C0152109 253400 Kugelberg-Welander disease;
NM_000344.4(SMN1):c.131A>T (p.Asp44Val)6606SMN1Pathogenicrs104893931RCV000009745; NMONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:8341957023471570234715AT5:g.70234715A>TClinGen:CA254683,UniProtKB:Q16637#VAR_034804,OMIM:600354.0013C0152109 253400 Kugelberg-Welander disease;
NM_000344.4(SMN1):c.278A>C (p.Lys93Thr)6606SMN1Uncertain significancers1580886828RCV000791267; NMONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:8341957023818970238189AC5:g.70238189A>C-
NM_000344.4(SMN1):c.283G>C (p.Gly95Arg)6606SMN1Pathogenicrs104893927RCV000009753|RCV000785814; NMONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419|MedGen:CN51720257023819470238194GC5:g.70238194G>CClinGen:CA254690,UniProtKB:Q16637#VAR_034805,OMIM:600354.0014C0152109 253400 Kugelberg-Welander disease;
NM_000344.4(SMN1):c.305G>A (p.Trp102Ter)6606SMN1Pathogenicrs77804083RCV000009746|RCV000009747|RCV000785813; NMONDO:MONDO:0009673,MedGen:C0393538,OMIM:253550, Orphanet:70, Orphanet:83418|MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419|MedGen:CN51720257023821670238216GA5:g.70238216G>AClinGen:CA254685,OMIM:600354.0010C0152109 253400 Kugelberg-Welander disease;
NM_000344.4(SMN1):c.379T>C (p.Tyr127His)6606SMN1Likely pathogenicrs1749441633RCV001089661; NMONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:8341957023829070238290TC5:g.70238290T>C-
NM_000344.4(SMN1):c.388T>C (p.Tyr130His)6606SMN1Pathogenicrs397514518RCV000032709; NMONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:8341957023829970238299TC5:g.70238299T>CClinGen:CA261142,OMIM:600354.0020C0152109 253400 Kugelberg-Welander disease;
NM_000344.4(SMN1):c.389A>G (p.Tyr130Cys)6606SMN1Pathogenicrs397514517RCV000032708; NMONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:8341957023830070238300AG5:g.70238300A>GClinGen:CA261139,OMIM:600354.0019C0152109 253400 Kugelberg-Welander disease;
NM_000344.4(SMN1):c.399_402del (p.Glu134fs)6606SMN1Pathogenicrs77668214RCV000009748|RCV000009749|RCV000785818|RCV000009750|RCV000009751; NMONDO:MONDO:0009669,MedGen:C0043116,OMIM:253300, Orphanet:83330|MONDO:MONDO:0009673,MedGen:C0393538,OMIM:253550, Orphanet:70, Orphanet:83418|MedGen:CN517202|MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419|MONDO:MONDO:0010056,MedG57023830870238311TAGAGT5:g.70238308_70238311delOMIM:600354.0011
NM_000344.4(SMN1):c.724-2A>G6606SMN1Pathogenicrs1561500842RCV000785811; NMONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:8341957024189170241891AG5:g.70241891A>G-
Single allele6606SMN1Pathogenicrs1554082110RCV000496588; NMONDO:MONDO:0009673,MedGen:C0393538,OMIM:253550, Orphanet:70, Orphanet:83418; MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419; MONDO:MONDO:0010056,MedGen:C1838230,OMIM:271150, Orphanet:83420; MONDO:MONDO:0009669,MedGen:C0043116,OMIM57024189270242002AGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATA5:g.70241892_70241990delClinGen:CA645372410C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_000344.4(SMN1):c.784A>G (p.Ser262Gly)6606SMN1Pathogenicrs104893932RCV000009756; NMONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:8341957024195370241953AG5:g.70241953A>GClinGen:CA254694,UniProtKB:Q16637#VAR_034809,OMIM:600354.0016C0152109 253400 Kugelberg-Welander disease;
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)6606SMN1Pathogenic/Likely pathogenicrs1554066659RCV000009736|RCV000713373; NMONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419|MedGen:CN51720257024195470241954GT5:g.70241954G>TClinGen:CA254675,UniProtKB:Q16637#VAR_005616,OMIM:600354.0003C0152109 253400 Kugelberg-Welander disease;
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile)6606SMN1Conflicting interpretations of pathogenicityrs1554066666RCV000009735|RCV000009734|RCV000517430; NMONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419|MONDO:MONDO:0009673,MedGen:C0393538,OMIM:253550, Orphanet:70, Orphanet:83418|MedGen:CN51720257024199070241990CT5:g.70241990C>TClinGen:CA254673,UniProtKB:Q16637#VAR_005618,OMIM:600354.0002C0152109 253400 Kugelberg-Welander disease;
NM_000344.4(SMN1):c.834+6T>G6606SMN1Pathogenic-1RCV000009743; NMONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:8341957024200970242009TGNC_000005.9:g.70242009T>GOMIM:600354.0008C0152109 253400 Kugelberg-Welander disease;
NM_017411.4(SMN2):c.859G>C (p.Gly287Arg)6607SMN2Likely pathogenicrs121909192RCV000008426|RCV000487481|RCV001824116; Y|MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419|Human Phenotype Ontology:HP:0007269,MONDO:MONDO:0001516,MedGen:C002684756937237269372372GC5:g.69372372G>CClinGen:CA119187,OMIM:601627.0001C0152109 253400 Kugelberg-Welander disease;
MSeqDR Portal