MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Muscular Atrophy, Spinal (D009134)
..Starting node ..Spinal Muscular Atrophies of Childhood (D014897)
Child Nodes:
........Amyotrophy, monomelic (C538253)
........Hamano Tsukamoto syndrome (C535625)
........SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
........SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
........Spinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
........SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
........Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant (C563560)
........Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 (C567023)
........Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures (C564805)
Sister Nodes:
..Bulbo-Spinal Atrophy, X-Linked (D055534) 1
..Camptocormia (C537968)
..Distal Hereditary Motor Neuropathy, Type II (C580044)
..ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
..Neuronopathy, Distal Hereditary Motor, Type I (C566675)
..Neuronopathy, Distal Hereditary Motor, Type IIB (C567084)
..NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
..Neuronopathy, Distal Hereditary Motor, Type V (C563443)
..Neuronopathy, Distal Hereditary Motor, Type Viib (C564362)
..Neuropathy, Distal Hereditary Motor, Type IIA (C563561)
..Neuropathy, Distal Hereditary Motor, Type VIIA (C563562)
..SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
..Scapuloperoneal Syndrome, Neurogenic, Kaeser Type (C566695)
..Spinal Muscular Atrophies of Childhood (D014897) 7
..Spinal muscular atrophy 4 (C538417)
..Spinal Muscular Atrophy with Mental Retardation (C564807)
..Spinal muscular atrophy with respiratory distress 1 (C536880)
..Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 (C564626)
..SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 (OMIM:614881)
..Spinal Muscular Atrophy, Distal, Congenital Nonprogressive (C563981)
..Spinal Muscular Atrophy, Distal, X-Linked 3 (C564506)
..Spinal Muscular Atrophy, Facioscapulohumeral Type (C566674)
..Spinal muscular atrophy, Jerash type (C535715)
..SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
..Spinal Muscular Atrophy, Late-Onset, Finkel Type (C566673)
..Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant (C566672)
..Spinal muscular atrophy, Ryukyuan type (C536881)
..Spinal Muscular Atrophy, Segmental (C566670)
..Spinal 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:

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:

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D014897
MeSH: D014897
OMIM: 253400;
MSeqDR :
Genes: DYNC1H1; SMN1; SMN2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002522	Areflexia of lower limbs
3	HP:0002398	Degeneration of anterior horn cells
4	HP:0003457	EMG abnormality
5	HP:0002378	Hand tremor
6	HP:0001265	Hyporeflexia
7	HP:0007289	Limb fasciculations
8	HP:0003394	Muscle cramps
9	HP:0001324	Muscle weakness NAMDC: Muscle weakness: diffuse
10	HP:0003676	Progressive
11	HP:0007269	Spinal muscular atrophy
12	HP:0001308	Tongue fasciculations

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000344.4(SMN1):c.5C>G (p.Ala2Gly)	6606	SMN1	Pathogenic	rs1554066397	RCV000009739\|RCV000009740\|RCV000517884;	N	MONDO:MONDO:0009673,MedGen:C0393538,OMIM:253550, Orphanet:70, Orphanet:83418\|MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419\|MedGen:CN517202	5	70220935	70220935	5:g.70220935C>G	ClinGen:CA254681,UniProtKB:Q16637#VAR_005615,OMIM:600354.0006	C0152109 253400 Kugelberg-Welander disease;
NM_000344.4(SMN1):c.131A>T (p.Asp44Val)	6606	SMN1	Pathogenic	rs104893931	RCV000009745;	N	MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419	5	70234715	70234715	5:g.70234715A>T	ClinGen:CA254683,UniProtKB:Q16637#VAR_034804,OMIM:600354.0013	C0152109 253400 Kugelberg-Welander disease;
NM_000344.4(SMN1):c.278A>C (p.Lys93Thr)	6606	SMN1	Uncertain significance	rs1580886828	RCV000791267;	N	MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419	5	70238189	70238189	5:g.70238189A>C	-
NM_000344.4(SMN1):c.283G>C (p.Gly95Arg)	6606	SMN1	Pathogenic	rs104893927	RCV000009753\|RCV000785814;	N	MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419\|MedGen:CN517202	5	70238194	70238194	5:g.70238194G>C	ClinGen:CA254690,UniProtKB:Q16637#VAR_034805,OMIM:600354.0014	C0152109 253400 Kugelberg-Welander disease;
NM_000344.4(SMN1):c.305G>A (p.Trp102Ter)	6606	SMN1	Pathogenic	rs77804083	RCV000009746\|RCV000009747\|RCV000785813;	N	MONDO:MONDO:0009673,MedGen:C0393538,OMIM:253550, Orphanet:70, Orphanet:83418\|MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419\|MedGen:CN517202	5	70238216	70238216	5:g.70238216G>A	ClinGen:CA254685,OMIM:600354.0010	C0152109 253400 Kugelberg-Welander disease;
NM_000344.4(SMN1):c.379T>C (p.Tyr127His)	6606	SMN1	Likely pathogenic	rs1749441633	RCV001089661;	N	MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419	5	70238290	70238290	5:g.70238290T>C	-
NM_000344.4(SMN1):c.388T>C (p.Tyr130His)	6606	SMN1	Pathogenic	rs397514518	RCV000032709;	N	MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419	5	70238299	70238299	5:g.70238299T>C	OMIM:600354.0020,ClinGen:CA261142	C0152109 253400 Kugelberg-Welander disease;
NM_000344.4(SMN1):c.389A>G (p.Tyr130Cys)	6606	SMN1	Pathogenic	rs397514517	RCV000032708;	N	MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419	5	70238300	70238300	5:g.70238300A>G	ClinGen:CA261139,OMIM:600354.0019	C0152109 253400 Kugelberg-Welander disease;
NM_000344.4(SMN1):c.399_402del (p.Glu134fs)	6606	SMN1	Pathogenic	rs77668214	RCV000009748\|RCV000009750\|RCV000009749\|RCV000009751\|RCV000785818;	N	MONDO:MONDO:0009669,MedGen:C0043116,OMIM:253300, Orphanet:83330\|MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419\|MONDO:MONDO:0009673,MedGen:C0393538,OMIM:253550, Orphanet:70, Orphanet:83418\|MONDO:MONDO:0010056,MedGen:C1838230,OMIM	5	70238308	70238311	5:g.70238308_70238311del	OMIM:600354.0011
NM_000344.4(SMN1):c.724-2A>G	6606	SMN1	Pathogenic	rs1561500842	RCV000785811;	N	MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419	5	70241891	70241891	5:g.70241891A>G	-
Single allele	6606	SMN1	Pathogenic	rs1554082110	RCV000496588;	N	MONDO:MONDO:0009669,MedGen:C0043116,OMIM:253300, Orphanet:83330; MONDO:MONDO:0010056,MedGen:C1838230,OMIM:271150, Orphanet:83420; MONDO:MONDO:0009673,MedGen:C0393538,OMIM:253550, Orphanet:70, Orphanet:83418; MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400,Orph	5	70241892	70242002	5:g.70241892_70241990del	ClinGen:CA645372410	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_000344.4(SMN1):c.784A>G (p.Ser262Gly)	6606	SMN1	Pathogenic	rs104893932	RCV000009756;	N	MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419	5	70241953	70241953	5:g.70241953A>G	ClinGen:CA254694,UniProtKB:Q16637#VAR_034809,OMIM:600354.0016	C0152109 253400 Kugelberg-Welander disease;
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)	6606	SMN1	Pathogenic/Likely pathogenic	rs1554066659	RCV000009736\|RCV000713373;	N	MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419\|MedGen:CN517202	5	70241954	70241954	5:g.70241954G>T	ClinGen:CA254675,UniProtKB:Q16637#VAR_005616,OMIM:600354.0003	C0152109 253400 Kugelberg-Welander disease;
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile)	6606	SMN1	Conflicting interpretations of pathogenicity	rs1554066666	RCV000009734\|RCV000009735\|RCV000517430;	N	MONDO:MONDO:0009673,MedGen:C0393538,OMIM:253550, Orphanet:70, Orphanet:83418\|MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419\|MedGen:CN517202	5	70241990	70241990	5:g.70241990C>T	ClinGen:CA254673,UniProtKB:Q16637#VAR_005618,OMIM:600354.0002	C0152109 253400 Kugelberg-Welander disease;
NM_000344.4(SMN1):c.834+6T>G	6606	SMN1	Pathogenic	-1	RCV000009743;	N	MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419	5	70242009	70242009	NC_000005.9:g.70242009T>G	OMIM:600354.0008	C0152109 253400 Kugelberg-Welander disease;
NM_017411.4(SMN2):c.859G>C (p.Gly287Arg)	6607	SMN2	Conflicting interpretations of pathogenicity	rs121909192	RCV000008426\|RCV000487481\|RCV001824116;	Y	\|MONDO:MONDO:0009672,MedGen:C0152109,OMIM:253400, Orphanet:70, Orphanet:83419\|Human Phenotype Ontology:HP:0007269,MONDO:MONDO:0001516,MedGen:C0026847	5	69372372	69372372	5:g.69372372G>C	ClinGen:CA119187,OMIM:601627.0001	C0152109 253400 Kugelberg-Welander disease;

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