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 102)

#	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	myeloproliferative neoplasm	10.3
10	greig cephalopolysyndactyly syndrome	10.3
11	fibromyalgia	10.3
12	temporomandibular joint anomaly	10.3
13	myeloid leukemia	10.2
14	foot drop	10.2
15	autosomal dominant distal myopathy	10.2
16	migraine with or without aura 1	10.2
17	leukemia, acute myeloid	10.2
18	sleep apnea	10.2
19	muscular dystrophy, limb-girdle, autosomal recessive 10	10.2
20	limb-girdle muscular dystrophy	10.2
21	myelodysplastic syndrome	10.1
22	exostosis	10.1
23	megakaryocytic leukemia	10.1
24	chromosomal triplication	10.1
25	autosomal recessive limb-girdle muscular dystrophy type 2j	10.1
26	branchiootic syndrome 1	10.0
27	anxiety	10.0
28	alexithymia	10.0
29	pain agnosia	10.0
30	arthropathy	10.0
31	myopathy	10.0
32	sleep disorder	10.0
33	chronic fatigue syndrome	10.0
34	stomatitis	10.0
35	hypermobile ehlers-danlos syndrome	10.0
36	back pain	10.0
37	muscular dystrophy, limb-girdle, autosomal recessive 1	10.0
38	myotonic dystrophy 2	10.0
39	welander distal myopathy	10.0
40	muscular disease	10.0
41	gne-related myopathy	10.0
42	skeletal muscle disease	10.0
43	autoimmune disease	9.9
44	hair whorl	9.9
45	myositis	9.9
46	trigeminal neuralgia	9.9
47	hydrops fetalis, nonimmune	9.9
48	body mass index quantitative trait locus 11	9.9
49	body mass index quantitative trait locus 9	9.9
50	body mass index quantitative trait locus 8	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. 56 6	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 6 Pathogenic/Likely pathogenic 6 Causative germline mutation 58 Causative variation 73	12145747 20634290 20301498 (more) 12891679

ClinVar genetic disease variations for Tibial Muscular Dystrophy, Tardive:

⁶ (show top 50) (show all 1106) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TTN	NM_003319.4(TTN):c.80585_80595delinsTGAAAGAAAAA (p.Glu26862_Trp26865delinsValLysGluLys)	indel	Pathogenic	12652	rs281864927	2:179391925-179391935	2:178527198-178527208
2	TTN	NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)	SNV	Pathogenic	12653	rs267607156	2:179391848-179391848	2:178527121-178527121
3	TTN	NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)	SNV	Pathogenic	12654	rs281864928	2:179391875-179391875	2:178527148-178527148
4	TTN	NM_001267550.2(TTN):c.107837A>C (p.His35946Pro)	SNV	Pathogenic	38438	rs281864931	2:179391878-179391878	2:178527151-178527151
5	TTN	NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	deletion	Pathogenic	38439	rs281864930	2:179391826-179391826	2:178527099-178527099
6	TTN	NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)	SNV	Pathogenic	38440	rs281864929	2:179391825-179391825	2:178527098-178527098
7	TTN	NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis)	deletion	Pathogenic	38441	rs281864933	2:179391818-179391823	2:178527091-178527096
8	TTN	NM_001267550.2(TTN):c.107647del (p.Ser35883fs)	deletion	Pathogenic	38442	rs281864932	2:179392206-179392206	2:178527479-178527479
9	TTN	NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter)	SNV	Pathogenic	130673	rs587780490	2:179641544-179641544	2:178776817-178776817
10	TTN	NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)	SNV	Pathogenic	488810	rs869178171	2:179428202-179428202	2:178563475-178563475
11	TTN	NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)	SNV	Pathogenic/Likely pathogenic	180573	rs574660186	2:179444429-179444429	2:178579702-178579702
12	TTN	NM_001267550.2(TTN):c.75134_75137AGAA[1] (p.Lys25046fs)	short repeat	Pathogenic/Likely pathogenic	202467	rs794729340	2:179435718-179435721	2:178570991-178570994
13	TTN	NM_001267550.2(TTN):c.89221dup (p.Ile29741fs)	duplication	Likely pathogenic	417932	rs1553543413	2:179418510-179418511	2:178553783-178553784
14	TTN	NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro)	SNV	Likely pathogenic	130686	rs587780495	2:179404186-179404186	2:178539459-178539459
15	TTN	NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr)	SNV	Likely pathogenic	56386	rs281864928	2:179391875-179391875	2:178527148-178527148
16	TTN	NM_001267550.2(TTN):c.26762-39TTTGT[11]	short repeat	Conflicting interpretations of pathogenicity	96274	rs71393436	2:179578108-179578109	2:178713381-178713382
17	TTN	NM_001267550.2(TTN):c.27702T>C (p.Ile9234=)	SNV	Conflicting interpretations of pathogenicity	96275	rs143368674	2:179576855-179576855	2:178712128-178712128
18	TTN	NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)	SNV	Conflicting interpretations of pathogenicity	96291	rs201717871	2:179483108-179483108	2:178618381-178618381
19	TTN	NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg)	SNV	Conflicting interpretations of pathogenicity	96296	rs181717727	2:179449606-179449606	2:178584879-178584879
20	TTN	NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)	SNV	Conflicting interpretations of pathogenicity	47708	rs55838839	2:179393900-179393900	2:178529173-178529173
21	TTN	NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)	SNV	Conflicting interpretations of pathogenicity	47709	rs55725279	2:179393898-179393898	2:178529171-178529171
22	TTN	NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr)	SNV	Conflicting interpretations of pathogenicity	47710	rs55880440	2:179393859-179393859	2:178529132-178529132
23	TTN	NM_001267550.2(TTN):c.106638G>A (p.Arg35546=)	SNV	Conflicting interpretations of pathogenicity	47711	rs56324602	2:179393840-179393840	2:178529113-178529113
24	TTN	NM_001267550.2(TTN):c.106920G>A (p.Leu35640=)	SNV	Conflicting interpretations of pathogenicity	47716	rs183923129	2:179393558-179393558	2:178528831-178528831
25	TTN	NM_001267550.2(TTN):c.11311+1799G>C	SNV	Conflicting interpretations of pathogenicity	47732	rs147314430	2:179616052-179616052	2:178751325-178751325
26	TTN	NM_001267550.2(TTN):c.11311+4672C>T	SNV	Conflicting interpretations of pathogenicity	47765	rs149748934	2:179613179-179613179	2:178748452-178748452
27	TTN	NM_001267550.2(TTN):c.11312-4478C>T	SNV	Conflicting interpretations of pathogenicity	47792	rs151253841	2:179611126-179611126	2:178746399-178746399
28	TTN	NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)	SNV	Conflicting interpretations of pathogenicity	47665	rs199714102	2:179397368-179397368	2:178532641-178532641
29	TTN	NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys)	SNV	Conflicting interpretations of pathogenicity	47669	rs190565627	2:179396977-179396977	2:178532250-178532250
30	TTN	NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys)	SNV	Conflicting interpretations of pathogenicity	47683	rs200378865	2:179396215-179396215	2:178531488-178531488
31	TTN	NM_001267550.2(TTN):c.105183G>A (p.Ala35061=)	SNV	Conflicting interpretations of pathogenicity	47685	rs371075036	2:179396159-179396159	2:178531432-178531432
32	TTN	NM_001267550.2(TTN):c.105228G>A (p.Ser35076=)	SNV	Conflicting interpretations of pathogenicity	47687	rs55938627	2:179396114-179396114	2:178531387-178531387
33	TTN	NM_001267550.2(TTN):c.105468G>A (p.Pro35156=)	SNV	Conflicting interpretations of pathogenicity	47691	rs55806007	2:179395874-179395874	2:178531147-178531147
34	TTN	NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs)	insertion	Conflicting interpretations of pathogenicity	130679	rs587780494	2:179639882-179639883	2:178775155-178775156
35	TTN	NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)	SNV	Conflicting interpretations of pathogenicity	130680	rs56341835	2:179433143-179433143	2:178568416-178568416
36	TTN	NM_001267550.2(TTN):c.9338G>A (p.Arg3113His)	SNV	Conflicting interpretations of pathogenicity	130688	rs141258018	2:179632619-179632619	2:178767892-178767892
37	TTN	NM_001267550.2(TTN):c.83080C>T (p.Arg27694Cys)	SNV	Conflicting interpretations of pathogenicity	238851	rs192360370	2:179427779-179427779	2:178563052-178563052
38	TTN	NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val)	SNV	Conflicting interpretations of pathogenicity	238795	rs372419267	2:179475791-179475791	2:178611064-178611064
39	TTN	NM_001267550.2(TTN):c.18549C>T (p.Asp6183=)	SNV	Conflicting interpretations of pathogenicity	238713	rs200549353	2:179594431-179594431	2:178729704-178729704
40	TTN	NM_001267550.2(TTN):c.10128G>A (p.Ser3376=)	SNV	Conflicting interpretations of pathogenicity	238692	rs755262343	2:179623886-179623886	2:178759159-178759159
41	TTN	NM_133379.5(TTN):c.10115-4G>A	SNV	Conflicting interpretations of pathogenicity	238691	rs367648529	2:179623903-179623903	2:178759176-178759176
42	TTN	NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)	SNV	Conflicting interpretations of pathogenicity	238827	rs183276016	2:179446666-179446666	2:178581939-178581939
43	TTN	NM_001267550.2(TTN):c.70907G>A (p.Arg23636His)	SNV	Conflicting interpretations of pathogenicity	96301	rs56071233	2:179439952-179439952	2:178575225-178575225
44	TTN	NM_133378.4(TTN):c.80003-4G>T	SNV	Conflicting interpretations of pathogenicity	96312	rs201770959	2:179422286-179422286	2:178557559-178557559
45	TTN	NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)	SNV	Conflicting interpretations of pathogenicity	96314	rs72648237	2:179418346-179418346	2:178553619-178553619
46	TTN	NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)	SNV	Conflicting interpretations of pathogenicity	96320	rs376810671	2:179407097-179407097	2:178542370-178542370
47	TTN	NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile)	SNV	Conflicting interpretations of pathogenicity	96327	rs188917199	2:179397925-179397925	2:178533198-178533198
48	TTN	NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter)	SNV	Conflicting interpretations of pathogenicity	130662	rs372277017	2:179598224-179598224	2:178733497-178733497
49	TTN	NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala)	SNV	Conflicting interpretations of pathogenicity	137798	rs116592778	2:179457681-179457681	2:178592954-178592954
50	TTN	NM_133378.4(TTN):c.51640+3G>A	SNV	Conflicting interpretations of pathogenicity	137799	rs142095604	2:179457499-179457499	2:178592772-178592772

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