MCID: DYS030
MIFTS: 39

Dysferlinopathy

Categories: Muscle diseases, Rare diseases

Aliases & Classifications for Dysferlinopathy

MalaCards integrated aliases for Dysferlinopathy:

Name: Dysferlinopathy 25 20 6 70

Classifications:



External Ids:

UMLS 70 C2931687

Summaries for Dysferlinopathy

GARD : 20 Dysferlinopathies are a group of muscle diseases that have a slow progression of muscle weakness and atrophy (wasting). The diseases in the group are: Miyoshi myopathy, where there is weakness and atrophy (wasting)of the muscles of the legs that are closer to the feet (distal myopathy) Limb-girdle muscular dystrophy type 2B (LGMD2B), where there is weakness and atrophy of the muscles of the pelvic and shoulder Scapuloperoneal syndrome, where weakness and atrophy affect both the distal legs and shoulder girdle muscles Distal myopathy with anterior tibial onset, where there is weakness of the front part of the leg and foot drop A form of congenital muscular dystrophy that was referred in a few people, and A condition where there are not symptoms but only an elevated level of the muscular enzyme CK in the blood tests. All dysferlinopathies are caused by pathogenic variations ( mutations ) in the DYSF gene which result in a deficiency of the protein dysferlin (hence, the name), important for the efficient repair of muscle fibers. Inheritance is autosomal recessive. There is no cure or specific treatment. Management depend on the symptoms and is aimed to improve the quality of life and the life expectation. Research to find an effective treatment is ongoing.

MalaCards based summary : Dysferlinopathy is related to limb-girdle muscular dystrophy and muscular dystrophy, limb-girdle, autosomal recessive 2. An important gene associated with Dysferlinopathy is DYSF (Dysferlin). The drugs Deflazacort and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, monocytes and kidney, and related phenotype is muscle.

Wikipedia : 73 Limb-girdle muscular dystrophy or (LGMD) is a genetically and clinically heterogeneous group of rare... more...

GeneReviews: NBK1303

Related Diseases for Dysferlinopathy

Diseases related to Dysferlinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy 31.0 SGCA DYSF CAPN3
2 muscular dystrophy, limb-girdle, autosomal recessive 2 30.9 SGCA DYSF CAPN3
3 muscular dystrophy 30.4 TOR1AIP1 SGCA MYOF DYSF CAPN3
4 autosomal recessive limb-girdle muscular dystrophy type 2b 30.0 SGCA OTOF MYOF DYSF CAPN3
5 miyoshi muscular dystrophy 29.9 SGCA OTOF MYOF DYSF CAPN3
6 autosomal recessive limb-girdle muscular dystrophy type 2d 29.8 SGCA DYSF CAPN3
7 muscular dystrophy, becker type 29.8 SGCA DYSF CAPN3
8 tibial muscular dystrophy 29.7 DYSF CAPN3
9 muscular disease 29.7 SGCA DYSF CAPN3
10 autosomal recessive limb-girdle muscular dystrophy 29.5 SGCA MYOF DYSF CAPN3
11 myopathy 29.5 TOR1AIP1 SGCA OTOF MYOF GPT DYSF
12 qualitative or quantitative defects of dysferlin 11.2
13 miyoshi muscular dystrophy 1 10.5
14 limb-girdle muscular dystrophy type 1a 10.3 DYSF CAPN3
15 muscular dystrophy, limb-girdle, autosomal recessive 7 10.3 DYSF CAPN3
16 muscular dystrophy, limb-girdle, autosomal recessive 8 10.3 DYSF CAPN3
17 subependymoma 10.3 AQP4 AQP1
18 muscular dystrophy, limb-girdle, autosomal dominant 2 10.3 DYSF CAPN3
19 muscular dystrophy-dystroglycanopathy , type c, 4 10.3 DYSF CAPN3
20 polymyositis 10.3
21 hydrarthrosis 10.2 MIP AQP1
22 miyoshi muscular dystrophy 3 10.2 DYSF CAPN3
23 central pontine myelinolysis 10.2 AQP4 AQP1
24 inappropriate adh syndrome 10.2 AQP4 AQP1
25 myopathy, myofibrillar, 3 10.2 DYSF CAPN3
26 autoimmune optic neuritis 10.2 MIP AQP4
27 muscular dystrophy, limb-girdle, autosomal dominant 1 10.2 DYSF CAPN3
28 intracranial hypertension, idiopathic 10.2 AQP4 AQP1
29 obstructive hydrocephalus 10.2 AQP4 AQP1
30 communicating hydrocephalus 10.2 AQP4 AQP1
31 autosomal recessive limb-girdle muscular dystrophy type 2x 10.1 TOR1AIP1 DYSF
32 far eastern spotted fever 10.1 RELA GPT
33 cardiomyopathy, dilated, 3b 10.1 SGCA DYSF
34 autoimmune disease of peripheral nervous system 10.1 AQP4 AQP1
35 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1
36 priapism 10.1 MIP AQP1
37 hydrops, lactic acidosis, and sideroblastic anemia 10.1 MIP AQP4 AQP1
38 bullous keratopathy 10.1 MIP AQP4 AQP1
39 diabetes insipidus, nephrogenic, autosomal 10.1 MIP AQP4 AQP1
40 brain edema 10.1 MIP AQP4 AQP1
41 intraocular pressure quantitative trait locus 10.1 MIP AQP4 AQP1
42 hepatorenal syndrome 10.1 GPT AQP1
43 large intestine lipoma 10.1 TGM1 GPT
44 lipoma of colon 10.1 TGM1 GPT
45 autosomal recessive limb-girdle muscular dystrophy type 2j 10.1 SGCA DYSF CAPN3
46 muscular dystrophy, congenital merosin-deficient, 1a 10.1 SGCA DYSF
47 autosomal recessive limb-girdle muscular dystrophy type 2l 10.1 SGCA DYSF CAPN3
48 autosomal recessive limb-girdle muscular dystrophy type 2h 10.1 SGCA DYSF CAPN3
49 autosomal recessive limb-girdle muscular dystrophy type 2c 10.0 SGCA DYSF CAPN3
50 muscular dystrophy, limb-girdle, autosomal recessive 4 10.0 SGCA DYSF CAPN3

Graphical network of the top 20 diseases related to Dysferlinopathy:



Diseases related to Dysferlinopathy

Symptoms & Phenotypes for Dysferlinopathy

MGI Mouse Phenotypes related to Dysferlinopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 CAPN3 DYSF MYOF RELA SGCA THBS1

Drugs & Therapeutics for Dysferlinopathy

Drugs for Dysferlinopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deflazacort Approved, Investigational Phase 2, Phase 3 14484-47-0
2 Immunosuppressive Agents Phase 2, Phase 3
3 Anti-Inflammatory Agents Phase 2, Phase 3
4 Immunologic Factors Phase 2, Phase 3
5
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
6 Vaccines Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Deflazacort in Dysferlinopathies (LGMD2B/MM) - a Double Blind, Placebo-controlled Clinical Study Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
2 Phase I Intramuscular Gene Transfer Clinical Trial for Dysferlin Deficiency Delivering the Dysferlin Gene by AAVrh74 Completed NCT02710500 Phase 1 rAAVrh74.MHCK7.DYSF.DV
3 Proteasomal Inhibition for Patients With Mis-sense Mutated Dysferlin Terminated NCT01863004 Phase 1 Bortezomib
4 International Clinical Outcome Study for Dysferlinopathy Unknown status NCT01676077
5 Evaluation of Clinical, Immunological, Morphological, Molecular and Genetic Characteristics of Patients With Limb-girdle Muscular Dystrophy Type R2 (Type 2B) in the Russian Federation Enrolling by invitation NCT04824040

Search NIH Clinical Center for Dysferlinopathy

Genetic Tests for Dysferlinopathy

Anatomical Context for Dysferlinopathy

MalaCards organs/tissues related to Dysferlinopathy:

40
Skeletal Muscle, Monocytes, Kidney, Bone Marrow, Eye, Brain, Spinal Cord

Publications for Dysferlinopathy

Articles related to Dysferlinopathy:

(show top 50) (show all 352)
# Title Authors PMID Year
1
Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies. 61 6 25
24488599 2014
2
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B. 25 6 61
23243261 2013
3
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. 6 61 25
23406536 2013
4
Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR. 61 25 6
19594366 2009
5
A new phenotype of dysferlinopathy with congenital onset. 61 6 25
19084402 2009
6
Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene. 61 6 25
17825554 2007
7
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. 25 6 61
16010686 2005
8
Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. 61 6 25
16087766 2005
9
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. 25 6
16100712 2005
10
Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population. 6 25
14678801 2003
11
Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype. 6 25
12796534 2003
12
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. 25 6
11468312 2001
13
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. 6 25
11198284 2001
14
Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features. 25 6
10825360 2000
15
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. 6 25
9731526 1998
16
Exon Skipping in a Dysf-Missense Mutant Mouse Model. 6 61
30292141 2018
17
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients. 61 6
30107846 2018
18
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. 6 61
27647186 2016
19
The Clinical Outcome Study for dysferlinopathy: An international multicenter study. 61 6
27602406 2016
20
Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle. 6 61
26000923 2016
21
Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. 6 61
26620441 2016
22
The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes. 6 61
27229680 2016
23
Respiratory and cardiac function in japanese patients with dysferlinopathy. 6 61
26088049 2016
24
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing. 61 6
27066573 2015
25
Dysferlinopathy in Iran: Clinical and genetic report. 61 6
26671124 2015
26
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects. 6 61
26444858 2015
27
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy. 61 6
25868377 2015
28
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. 6 61
25591676 2014
29
A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides. 61 6
25493284 2014
30
DYSF mutation analysis in a group of Chinese patients with dysferlinopathy. 61 6
23254335 2013
31
Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected]. 6 61
23519732 2013
32
Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy. 6 61
22297152 2012
33
An autopsy case of a dysferlinopathy patient with cardiac involvement. 6 61
22246893 2012
34
[A case of dysferlinopathy asymptomatic for 10 years after an episode of transient muscle weakness]. 61 6
22849992 2012
35
Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis. 6 61
22616201 2011
36
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. 61 6
21522182 2011
37
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. 61 6
22194990 2011
38
New aspects on patients affected by dysferlin deficient muscular dystrophy. 61 6
19528035 2010
39
Novel diagnostic features of dysferlinopathies. 61 6
20544924 2010
40
Rapid screening for Japanese dysferlinopathy by fluorescent primer extension. 61 6
21173544 2010
41
Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases. 6 61
19309282 2009
42
Analysis of the DYSF mutational spectrum in a large cohort of patients. 6 61
18853459 2009
43
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 61 6
17994539 2008
44
Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. 6 61
17698709 2007
45
Dysferlin expression in monocytes: a source of mRNA for mutation analysis. 61 6
17070050 2007
46
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display. 61 6
15827562 2005
47
Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy. 61 6
15469449 2004
48
[A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy]. 6 61
15293763 2004
49
Dysferlinopathy 61 6
20301480 2004
50
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). 6 61
11053681 2000

Variations for Dysferlinopathy

ClinVar genetic disease variations for Dysferlinopathy:

6 (show top 50) (show all 886)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DYSF NM_001130987.2(DYSF):c.1766_1767insTTCT (p.Lys589fs) Insertion Pathogenic 471281 rs1553542773 GRCh37: 2:71778810-71778811
GRCh38: 2:71551680-71551681
2 DYSF NM_001130987.2(DYSF):c.5976_5977inv (p.Glu1993Ter) Inversion Pathogenic 471321 GRCh37: 2:71906278-71906279
GRCh38: 2:71679148-71679149
3 DYSF NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) SNV Pathogenic 197433 rs766016391 GRCh37: 2:71871118-71871118
GRCh38: 2:71643988-71643988
4 DYSF NM_001130987.2(DYSF):c.5467C>T (p.Gln1823Ter) SNV Pathogenic 471317 rs1553415109 GRCh37: 2:71895893-71895893
GRCh38: 2:71668763-71668763
5 DYSF NM_001130987.2(DYSF):c.342del (p.Ala116fs) Deletion Pathogenic 282316 rs886042379 GRCh37: 2:71730446-71730446
GRCh38: 2:71503316-71503316
6 DYSF NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) Indel Pathogenic 94305 rs398123781 GRCh37: 2:71817342-71817343
GRCh38: 2:71590212-71590213
7 DYSF NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter) SNV Pathogenic 419655 rs1064794020 GRCh37: 2:71906303-71906303
GRCh38: 2:71679173-71679173
8 DYSF NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) Duplication Pathogenic 94351 rs398123799 GRCh37: 2:71908162-71908163
GRCh38: 2:71681032-71681033
9 DYSF NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) Deletion Pathogenic 6685 rs727503909 GRCh37: 2:71795435-71795435
GRCh38: 2:71568305-71568305
10 DYSF NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter) SNV Pathogenic 285584 rs886043145 GRCh37: 2:71839902-71839902
GRCh38: 2:71612772-71612772
11 DYSF NM_001130987.2(DYSF):c.4590C>A (p.Cys1530Ter) SNV Pathogenic 471307 rs778185705 GRCh37: 2:71871157-71871157
GRCh38: 2:71644027-71644027
12 DYSF NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) SNV Pathogenic 217227 rs863225021 GRCh37: 2:71892311-71892311
GRCh38: 2:71665181-71665181
13 DYSF NM_001130987.2(DYSF):c.5317+1G>A SNV Pathogenic 538631 rs773386253 GRCh37: 2:71892435-71892435
GRCh38: 2:71665305-71665305
14 DYSF NM_001130987.2(DYSF):c.5642+1G>A SNV Pathogenic 167030 rs727503915 GRCh37: 2:71896338-71896338
GRCh38: 2:71669208-71669208
15 DYSF NM_001130987.2(DYSF):c.361C>T (p.Gln121Ter) SNV Pathogenic 567525 rs1423123313 GRCh37: 2:71738952-71738952
GRCh38: 2:71511822-71511822
16 DYSF NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs) Duplication Pathogenic 370730 rs766341386 GRCh37: 2:71817410-71817411
GRCh38: 2:71590280-71590281
17 DYSF NM_001130987.2(DYSF):c.5724G>A (p.Trp1908Ter) SNV Pathogenic 571837 rs1558787893 GRCh37: 2:71896816-71896816
GRCh38: 2:71669686-71669686
18 DYSF NM_003494.3(DYSF):c.2512-1495_3148del Deletion Pathogenic 573415 GRCh37: 2:71793586-71797845
GRCh38: 2:71566456-71570715
19 DYSF NM_001130987.2(DYSF):c.6141_6151del (p.Pro2048_Asn2049insTer) Deletion Pathogenic 573478 rs1558817973 GRCh37: 2:71908204-71908214
GRCh38: 2:71681074-71681084
20 DYSF NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) SNV Pathogenic 283497 rs886042641 GRCh37: 2:71709020-71709020
GRCh38: 2:71481890-71481890
21 DYSF NM_001130987.2(DYSF):c.5086G>T (p.Glu1696Ter) SNV Pathogenic 574059 rs368142107 GRCh37: 2:71891480-71891480
GRCh38: 2:71664350-71664350
22 DYSF NM_001130987.2(DYSF):c.4909A>T (p.Lys1637Ter) SNV Pathogenic 574900 rs1558750788 GRCh37: 2:71886161-71886161
GRCh38: 2:71659031-71659031
23 DYSF NM_001130987.2(DYSF):c.3741C>A (p.Tyr1247Ter) SNV Pathogenic 575305 rs375160101 GRCh37: 2:71825860-71825860
GRCh38: 2:71598730-71598730
24 DYSF NM_001130987.2(DYSF):c.5711del (p.Gly1904fs) Deletion Pathogenic 6666 rs786205081 GRCh37: 2:71896802-71896802
GRCh38: 2:71669672-71669672
25 DYSF NM_001130987.2(DYSF):c.3403-2A>G SNV Pathogenic 196694 rs370874727 GRCh37: 2:71816721-71816721
GRCh38: 2:71589591-71589591
26 DYSF NM_001130987.2(DYSF):c.167dup (p.Ile58fs) Duplication Pathogenic 217222 rs863225020 GRCh37: 2:71709026-71709027
GRCh38: 2:71481896-71481897
27 DYSF NM_001130987.2(DYSF):c.1834_1835del (p.Leu612fs) Deletion Pathogenic 579639 rs1559141367 GRCh37: 2:71780168-71780169
GRCh38: 2:71553038-71553039
28 DYSF NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) SNV Pathogenic 284254 rs202218890 GRCh37: 2:71797014-71797014
GRCh38: 2:71569884-71569884
29 DYSF NM_001130987.2(DYSF):c.895_896del (p.Phe299fs) Deletion Pathogenic 639814 rs1337417322 GRCh37: 2:71743314-71743315
GRCh38: 2:71516184-71516185
30 DYSF NC_000002.12:g.(?_71679047)_(71679245_?)del Deletion Pathogenic 640452 GRCh37: 2:71906177-71906375
GRCh38: 2:71679047-71679245
31 DYSF NM_001130987.2(DYSF):c.2070del (p.Ile690fs) Deletion Pathogenic 642604 rs1573949142 GRCh37: 2:71781022-71781022
GRCh38: 2:71553892-71553892
32 DYSF NM_001130987.2(DYSF):c.5938A>T (p.Lys1980Ter) SNV Pathogenic 501036 rs1553420738 GRCh37: 2:71906240-71906240
GRCh38: 2:71679110-71679110
33 DYSF NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter) SNV Pathogenic 647109 rs1574340403 GRCh37: 2:71838688-71838688
GRCh38: 2:71611558-71611558
34 DYSF NM_001130987.2(DYSF):c.4418_4419dup (p.Val1474fs) Duplication Pathogenic 644959 rs1574354166 GRCh37: 2:71840493-71840494
GRCh38: 2:71613363-71613364
35 DYSF NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs) Duplication Pathogenic 646166 rs779407815 GRCh37: 2:71827929-71827930
GRCh38: 2:71600799-71600800
36 DYSF NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs) Indel Pathogenic 6669 rs786200896 GRCh37: 2:71887767-71887771
GRCh38: 2:71660637-71660641
37 DYSF NM_001130987.2(DYSF):c.5200del (p.Gln1734fs) Deletion Pathogenic 619218 rs1558771348 GRCh37: 2:71892316-71892316
GRCh38: 2:71665186-71665186
38 DYSF NM_001130987.2(DYSF):c.3270_3271CT[2] (p.Leu1092fs) Microsatellite Pathogenic 653601 rs1574097294 GRCh37: 2:71801369-71801370
GRCh38: 2:71574239-71574240
39 DYSF NM_001130987.2(DYSF):c.1577-1G>A SNV Pathogenic 285177 rs189923208 GRCh37: 2:71778170-71778170
GRCh38: 2:71551040-71551040
40 DYSF NM_003494.3(DYSF):c.2512-1496_3149del Deletion Pathogenic 655612 GRCh37:
GRCh38: 2:71566455-71570716
41 DYSF NM_001130987.2(DYSF):c.1922del (p.Lys641fs) Deletion Pathogenic 654135 rs1573943246 GRCh37: 2:71780255-71780255
GRCh38: 2:71553125-71553125
42 DYSF NC_000002.12:g.(?_71567941)_(71570344_?)del Deletion Pathogenic 655241 GRCh37: 2:71795071-71797474
GRCh38: 2:71567941-71570344
43 DYSF NC_000002.12:g.(?_71480873)_(71481980_?)del Deletion Pathogenic 659607 GRCh37: 2:71708003-71709110
GRCh38: 2:71480873-71481980
44 DYSF NM_003494.3(DYSF):c.3383dup (p.Met1128Ilefs) Duplication Pathogenic 502211 rs1553370437 GRCh37: 2:71816756-71816757
GRCh38: 2:71589626-71589627
45 DYSF NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) SNV Pathogenic 265487 rs758180890 GRCh37: 2:71753425-71753425
GRCh38: 2:71526295-71526295
46 DYSF NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter) SNV Pathogenic 665762 rs1574354515 GRCh37: 2:71840520-71840520
GRCh38: 2:71613390-71613390
47 DYSF NM_001130987.2(DYSF):c.6166del (p.Asp2056fs) Deletion Pathogenic 666025 rs1397263011 GRCh37: 2:71908232-71908232
GRCh38: 2:71681102-71681102
48 DYSF NM_001130987.2(DYSF):c.3085+2T>C SNV Pathogenic 284804 rs886042951 GRCh37: 2:71797466-71797466
GRCh38: 2:71570336-71570336
49 DYSF NM_001130987.2(DYSF):c.991G>C (p.Gly331Arg) SNV Pathogenic 837557 GRCh37: 2:71744158-71744158
GRCh38: 2:71517028-71517028
50 DYSF NM_001130987.2(DYSF):c.1965C>A (p.Tyr655Ter) SNV Pathogenic 837580 GRCh37: 2:71780299-71780299
GRCh38: 2:71553169-71553169

Expression for Dysferlinopathy

Search GEO for disease gene expression data for Dysferlinopathy.

Pathways for Dysferlinopathy

GO Terms for Dysferlinopathy

Cellular components related to Dysferlinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.81 TGM1 SGCA OTOF MYOF MIP DYSF
2 nuclear membrane GO:0031965 9.43 TOR1AIP1 MYOF AQP1
3 basolateral plasma membrane GO:0016323 9.13 OTOF AQP4 AQP1
4 sarcolemma GO:0042383 8.92 SGCA DYSF AQP4 AQP1

Biological processes related to Dysferlinopathy according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.81 THBS1 RELA CAPN3 AQP1
2 muscle contraction GO:0006936 9.65 SGCA MYOF DYSF
3 response to progesterone GO:0032570 9.55 THBS1 RELA
4 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.54 THBS1 RELA
5 renal water homeostasis GO:0003091 9.52 AQP4 AQP1
6 peptide cross-linking GO:0018149 9.49 THBS1 TGM1
7 plasma membrane repair GO:0001778 9.46 MYOF DYSF
8 multicellular organismal water homeostasis GO:0050891 9.43 AQP4 AQP1
9 membrane fusion GO:0061025 9.43 OTOF MYOF DYSF
10 negative regulation of protein sumoylation GO:0033234 9.4 RELA CAPN3
11 T-tubule organization GO:0033292 9.37 MYOF DYSF
12 cellular water homeostasis GO:0009992 9.32 AQP4 AQP1
13 cellular response to salt stress GO:0071472 9.16 CAPN3 AQP1
14 plasma membrane organization GO:0007009 9.13 OTOF MYOF DYSF
15 water transport GO:0006833 8.8 MIP AQP4 AQP1

Molecular functions related to Dysferlinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.73 THBS1 TGM1 RELA CAPN3 AQP4 AQP1
2 calcium ion binding GO:0005509 9.55 THBS1 SGCA OTOF DYSF CAPN3
3 channel activity GO:0015267 9.13 MIP AQP4 AQP1
4 water channel activity GO:0015250 8.8 MIP AQP4 AQP1

Sources for Dysferlinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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