Tibial Muscular Dystrophy, Tardive (TMD)

MalaCards integrated aliases for Tibial Muscular Dystrophy, Tardive:

Udd Myopathy 56 58 73 Tmd 56 58 73 Tardive Tibial Muscular Dystrophy 56 73 Tibial Muscular Dystrophy 58 71

Finnish Tibial Muscular Dystrophy 58 Distal Myopathy, Udd Type 58 Distal Titinopathy 58

Characteristics:

Classifications:

Diseases related to Tibial Muscular Dystrophy, Tardive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 100)

#	Related Disease	Score	Top Affiliating Genes
1	myeloproliferative syndrome, transient	12.1
2	tibial muscular dystrophy	11.8
3	chronic pain	10.7
4	bruxism	10.7
5	headache	10.6
6	osteoarthritis	10.4
7	whiplash	10.4
8	down syndrome	10.4
9	greig cephalopolysyndactyly syndrome	10.4
10	myeloproliferative neoplasm	10.4
11	fibromyalgia	10.3
12	temporomandibular joint anomaly	10.3
13	foot drop	10.2
14	autosomal dominant distal myopathy	10.2
15	leukemia, acute myeloid	10.2
16	sleep apnea	10.2
17	myeloid leukemia	10.2
18	muscular dystrophy, limb-girdle, autosomal recessive 10	10.2
19	limb-girdle muscular dystrophy	10.2
20	migraine with or without aura 1	10.1
21	myelodysplastic syndrome	10.1
22	exostosis	10.1
23	sleep disorder	10.1
24	megakaryocytic leukemia	10.1
25	chromosomal triplication	10.1
26	autosomal recessive limb-girdle muscular dystrophy type 2j	10.1
27	branchiootic syndrome 1	10.1
28	anxiety	10.1
29	alexithymia	10.1
30	arthropathy	10.1
31	myopathy	10.1
32	chronic fatigue syndrome	10.1
33	stomatitis	10.1
34	hypermobile ehlers-danlos syndrome	10.1
35	back pain	10.1
36	muscular dystrophy, limb-girdle, autosomal recessive 1	10.0
37	welander distal myopathy	10.0
38	muscular disease	10.0
39	skeletal muscle disease	10.0
40	autoimmune disease	9.9
41	hair whorl	9.9
42	myositis	9.9
43	trigeminal neuralgia	9.9
44	hydrops fetalis, nonimmune	9.9
45	body mass index quantitative trait locus 11	9.9
46	thrombocytopenia with beta-thalassemia, x-linked	9.9
47	body mass index quantitative trait locus 9	9.9
48	body mass index quantitative trait locus 8	9.9
49	body mass index quantitative trait locus 1	9.9
50	body mass index quantitative trait locus 4	9.9

Articles related to Tibial Muscular Dystrophy, Tardive:

(show all 22)

#	Title	Authors	PMID	Year
1	Tibial muscular dystrophy in a Belgian family. 56 6	Van den Bergh PY...Udd B	12891679	2003
2	Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 6 56	Hackman P...Udd B	12145747	2002
3	Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. 6	Sarparanta J...Udd B	20634290	2010
4	Udd Distal Myopathy – Tibial Muscular Dystrophy 6	Udd B...Hackman P	20301498	2005
5	Autosomal dominant distal myopathy not linked to the known distal myopathy loci. 56	Felice KJ...Laing N	10220859	1999
6	The first European family with tibial muscular dystrophy outside the Finnish population. 56	de Seze J...Vermersch P	9855539	1998
7	Assignment of the tibial muscular dystrophy locus to chromosome 2q31. 56	Haravuori H...Peltonen L	9497249	1998
8	Late onset foot-drop muscular dystrophy with rimmed vacuoles. 56	Partanen J...Naukkarinen A	7807161	1994
9	Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. 56	Udd B...Laulumaa V	8503797	1993
10	Vacuolar myopathy sparing the quadriceps. 56	Sadeh M...Ben-David E	8453459	1993
11	Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy. 56	Udd B...Somer H	1487757	1992
12	Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene? 56	Udd B	1619633	1992
13	Muscular dystrophy with separate clinical phenotypes in a large family. 56	Udd B...Somer H	1745277	1991
14	Distal myopathy with rimmed vacuole formation. A follow-up study. 56	Sunohara N...Satoyoshi E	2645018	1989
15	Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. 56	Miyoshi K...Nishino H	3942856	1986
16	A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. 56	Edstrom L...Eriksson A	6251174	1980
17	Distal myopathy: electron microscopic and histochemical studies. 56	Markesbery WR...Herr B	196233	1977
18	Histochemical and histopathological changes in skeletal muscle in late-onset hereditary distal myopathy (Welander). 56	Edstrom L	126303	1975
19	Late onset hereditary distal myopathy. 56	Markesbery WR...Lapham LW	4855680	1974
20	The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. 61	Pollazzon M...Udd B	19911250	2010
21	Distal myopathies. 61	Mastaglia FL...Laing NG	16155432	2005
22	Distal myopathies. 61	Illa I	10787109	2000

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TTN	Titin	Protein Coding	1550	Molecular basis known 56 Pathogenic/Likely pathogenic 6 Pathogenic 6 Causative germline mutation 58 Causative variation 73	20301498 12145747 12891679 (more) 20634290

ClinVar genetic disease variations for Tibial Muscular Dystrophy, Tardive:

⁶ (show top 50) (show all 1957) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TTN	NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)	SNV	Pathogenic	488810	rs869178171	2:179428202-179428202	2:178563475-178563475
2	TTN	NM_003319.4(TTN):c.80585_80595delinsTGAAAGAAAAA (p.Glu26862_Trp26865delinsValLysGluLys)	indel	Pathogenic	12652	rs281864927	2:179391925-179391935	2:178527198-178527208
3	TTN	NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)	SNV	Pathogenic	12653	rs267607156	2:179391848-179391848	2:178527121-178527121
4	TTN	NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)	SNV	Pathogenic	12654	rs281864928	2:179391875-179391875	2:178527148-178527148
5	TTN	NM_001267550.2(TTN):c.107837A>C (p.His35946Pro)	SNV	Pathogenic	38438	rs281864931	2:179391878-179391878	2:178527151-178527151
6	TTN	NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	deletion	Pathogenic	38439	rs281864930	2:179391826-179391826	2:178527099-178527099
7	TTN	NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)	SNV	Pathogenic	38440	rs281864929	2:179391825-179391825	2:178527098-178527098
8	TTN	NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis)	deletion	Pathogenic	38441	rs281864933	2:179391818-179391823	2:178527091-178527096
9	TTN	NM_001267550.2(TTN):c.107647del (p.Ser35883fs)	deletion	Pathogenic	38442	rs281864932	2:179392206-179392206	2:178527479-178527479
10	TTN	NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)	SNV	Pathogenic/Likely pathogenic	180573	rs574660186	2:179444429-179444429	2:178579702-178579702
11	TTN	NM_001267550.2(TTN):c.75134_75137AGAA[1] (p.Lys25046fs)	short repeat	Pathogenic/Likely pathogenic	202467	rs794729340	2:179435718-179435721	2:178570991-178570994
12	TTN	NM_001267550.2(TTN):c.89221dup (p.Ile29741fs)	duplication	Likely pathogenic	417932	rs1553543413	2:179418510-179418511	2:178553783-178553784
13	TTN	NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro)	SNV	Likely pathogenic	130686	rs587780495	2:179404186-179404186	2:178539459-178539459
14	TTN	NM_001267550.2(TTN):c.62679C>T (p.Gly20893=)	SNV	Conflicting interpretations of pathogenicity	437093	rs188059075	2:179453773-179453773	2:178589046-178589046
15	TTN	NM_001267550.2(TTN):c.101890C>A (p.Arg33964Ser)	SNV	Conflicting interpretations of pathogenicity	448763	rs779064623	2:179399452-179399452	2:178534725-178534725
16	TTN	NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys)	SNV	Conflicting interpretations of pathogenicity	448816	rs189208539	2:179439953-179439953	2:178575226-178575226
17	TTN	NM_001267550.2(TTN):c.24756T>G (p.Asp8252Glu)	SNV	Conflicting interpretations of pathogenicity	413123	rs764248656	2:179583077-179583077	2:178718350-178718350
18	TTN	NM_001267550.2(TTN):c.31390C>T (p.Arg10464Trp)	SNV	Conflicting interpretations of pathogenicity	405108	rs374555701	2:179559362-179559362	2:178694635-178694635
19	TTN	NM_001267550.2(TTN):c.96026T>G (p.Ile32009Arg)	SNV	Conflicting interpretations of pathogenicity	404800	rs375368824	2:179408930-179408930	2:178544203-178544203
20	TTN	NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His)	SNV	Conflicting interpretations of pathogenicity	405049	rs199781261	2:179410115-179410115	2:178545388-178545388
21	TTN	NM_001267550.2(TTN):c.95153G>T (p.Ser31718Ile)	SNV	Conflicting interpretations of pathogenicity	404799	rs758006837	2:179410810-179410810	2:178546083-178546083
22	TTN	NM_001267550.2(TTN):c.81157T>A (p.Tyr27053Asn)	SNV	Conflicting interpretations of pathogenicity	404998	rs776943572	2:179429702-179429702	2:178564975-178564975
23	TTN	NM_001267550.2(TTN):c.74508T>C (p.Asp24836=)	SNV	Conflicting interpretations of pathogenicity	413042	rs1060503924	2:179436351-179436351	2:178571624-178571624
24	TTN	NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)	SNV	Conflicting interpretations of pathogenicity	405015	rs72648221	2:179426219-179426219	2:178561492-178561492
25	TTN	NM_001267550.2(TTN):c.88611T>G (p.Pro29537=)	SNV	Conflicting interpretations of pathogenicity	413106	rs555380931	2:179419463-179419463	2:178554736-178554736
26	TTN	NM_001267550.2(TTN):c.47938A>G (p.Ile15980Val)	SNV	Conflicting interpretations of pathogenicity	404883	rs780634456	2:179481678-179481678	2:178616951-178616951
27	TTN	NM_001267550.2(TTN):c.54636T>C (p.Tyr18212=)	SNV	Conflicting interpretations of pathogenicity	413057	rs397517620	2:179468778-179468778	2:178604051-178604051
28	TTN	NM_001267550.2(TTN):c.39389C>T (p.Pro13130Leu)	SNV	Conflicting interpretations of pathogenicity	405161	rs370520319	2:179516467-179516467	2:178651740-178651740
29	TTN	NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro)	SNV	Conflicting interpretations of pathogenicity	496946	rs776790387	2:179595427-179595427	2:178730700-178730700
30	TTN	NM_001267550.2(TTN):c.27652G>T (p.Val9218Phe)	SNV	Conflicting interpretations of pathogenicity	496984	rs746558975	2:179576905-179576905	2:178712178-178712178
31	TTN	NM_001267550.2(TTN):c.43161G>A (p.Glu14387=)	SNV	Conflicting interpretations of pathogenicity	497009	rs765214404	2:179497697-179497697	2:178632970-178632970
32	TTN	NM_001267550.2(TTN):c.6359G>A (p.Arg2120Gln)	SNV	Conflicting interpretations of pathogenicity	497010	rs141142920	2:179640232-179640232	2:178775505-178775505
33	TTN	NM_001267550.2(TTN):c.20354C>T (p.Ser6785Leu)	SNV	Conflicting interpretations of pathogenicity	466876	rs201586695	2:179590695-179590695	2:178725968-178725968
34	TTN	NM_001267550.2(TTN):c.43691C>G (p.Ser14564Cys)	SNV	Conflicting interpretations of pathogenicity	467156	rs377015571	2:179496930-179496930	2:178632203-178632203
35	TTN	NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val)	SNV	Conflicting interpretations of pathogenicity	467239	rs370644359	2:179474467-179474467	2:178609740-178609740
36	TTN	NM_001267550.2(TTN):c.43120A>G (p.Ile14374Val)	SNV	Conflicting interpretations of pathogenicity	467153	rs754227553	2:179497738-179497738	2:178633011-178633011
37	TTN	NM_001267550.2(TTN):c.39709+7G>A	SNV	Conflicting interpretations of pathogenicity	467111	rs750763722	2:179515471-179515471	2:178650744-178650744
38	TTN	NM_001267550.2(TTN):c.21962-6C>T	SNV	Conflicting interpretations of pathogenicity	466902	rs374870814	2:179587670-179587670	2:178722943-178722943
39	TTN	NM_001267550.2(TTN):c.31645A>G (p.Ile10549Val)	SNV	Conflicting interpretations of pathogenicity	467005	rs376613199	2:179557257-179557257	2:178692530-178692530
40	TTN	NM_001267550.2(TTN):c.33331G>A (p.Ala11111Thr)	SNV	Conflicting interpretations of pathogenicity	467028	rs545067681	2:179545815-179545815	2:178681088-178681088
41	TTN	NM_001267550.2(TTN):c.31422G>A (p.Val10474=)	SNV	Conflicting interpretations of pathogenicity	467001	rs72650020	2:179559330-179559330	2:178694603-178694603
42	TTN	NM_133379.5(TTN):c.2494-5T>C	SNV	Conflicting interpretations of pathogenicity	466937	rs370759512	2:179649083-179649083	2:178784356-178784356
43	TTN	NM_001267550.2(TTN):c.18684T>C (p.Phe6228=)	SNV	Conflicting interpretations of pathogenicity	466860	rs368427156	2:179594199-179594199	2:178729472-178729472
44	TTN	NM_001267550.2(TTN):c.63907G>A (p.Val21303Met)	SNV	Conflicting interpretations of pathogenicity	467367	rs372812312	2:179452031-179452031	2:178587304-178587304
45	TTN	NM_001267550.2(TTN):c.62703A>G (p.Leu20901=)	SNV	Conflicting interpretations of pathogenicity	467352	rs749180542	2:179453749-179453749	2:178589022-178589022
46	TTN	NM_001267550.2(TTN):c.87650G>A (p.Arg29217His)	SNV	Conflicting interpretations of pathogenicity	467593	rs749606240	2:179422431-179422431	2:178557704-178557704
47	TTN	NM_001267550.2(TTN):c.68981C>T (p.Thr22994Ile)	SNV	Conflicting interpretations of pathogenicity	467415	rs183056142	2:179442081-179442081	2:178577354-178577354
48	TTN	NM_001267550.2(TTN):c.54194G>A (p.Arg18065His)	SNV	Conflicting interpretations of pathogenicity	467264	rs375895183	2:179469622-179469622	2:178604895-178604895
49	TTN	NM_001267550.2(TTN):c.78431T>C (p.Ile26144Thr)	SNV	Conflicting interpretations of pathogenicity	467511	rs183015944	2:179432428-179432428	2:178567701-178567701
50	TTN	NM_001267550.2(TTN):c.76610G>A (p.Arg25537His)	SNV	Conflicting interpretations of pathogenicity	467490	rs561977468	2:179434249-179434249	2:178569522-178569522

UniProtKB/Swiss-Prot genetic disease variations for Tibial Muscular Dystrophy, Tardive:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	TTN	p.Ile34306Asn	VAR_026694	rs281864928
2	TTN	p.Leu34315Pro	VAR_026695	rs267607156