Mitochondria Phenome Knowledgebase

Phenotypic Feature Muscular-atrophy finds 46 Gene-Feature associations that are associated with 46 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADS 201470 Muscular-atrophy muscle wasting; type 1 fiber predominance; type 1 fibre atrophy; type 2 fibre atrophy; neurogenic atrophy; denervation atrophy neurologic 9932958 11524729 15534767
ACADSB 610006 Muscular-atrophy neurologic 11013134
ALDH18A1 138250 Muscular-atrophy muscular wasting; muscular wasting of the limbs; distal muscular wasting neurologic 15517380
ALDH5A1 271980 Muscular-atrophy type 2 fiber atrophy; nonspecific neurologic 9093300
BCKDHA 248600 Muscular-diseases Biopsy finding; non specific abnormalities; myofibre atrophy; fibres with increased lipid; muscular atrophy musculoskeletal 16601891
COX15 220110 Muscular-atrophy muscle wasting neurologic 15863660
CYP27B1 264700 Muscular-atrophy muscle wasting neurologic 12050193
DGUOK 251880 Muscular-atrophy muscle wasting; dystrophy; amyotrophia neurologic 15639197 15964659
DLD 248600 Muscular-atrophy type 2 fiber hypotrophy; type 1 fiber predominance; supranuclear lesions related; muscle wasting neurologic 12925875 14765544
DMPK 160900 Muscular-atrophy muscle wasting; temporal; facial; neck; forearms; type 1 fiber predominance; fiber diameters abnormal; hypertophic fibers; ring fibers; muscular dystrophy; type 1 fiber atrophy neurologic 1346925 7811171 7829609 7853378 8140064 8293615 8421476 8742989 8891827 9270517 9576545 9728948 9863600 10323316 10367695 10391974 10733240 10935840 11284072 11549662 11874404 11874420 11888847 12190956 12240714 12601109 12639730 12832322 14726854 15326270
ECGF1 603041 Muscular-atrophy muscle wasting; diffuse; neurogenic atrophy; muscularis propria fibrosis; muscularis propria atrophy; atrophic fibers neurologic 9683610 12177387 16178026 16198108 16294144 16530527
ETFDH 231680 Muscular-atrophy muscle hypotrophy; limb girdle like neurologic 15662686
FH 606812 Muscular-atrophy type 2 fiber hypertrophy; type 2 fiber predominance; fiber diameters abnormal neurologic 8200987
FXN 229300 Muscular-atrophy amyotrophy; progressive; muscle wasting; small hand muscles; distal foot muscles; distal leg muscles neurologic 12480086 12745158 12878293 16344344
GDAP1 214400 Muscular-atrophy severe; symmetric; distal wasting; hands; calf muscles atrophy; atrophic angular muscle fibers; type 1 fiber predominance neurologic 11743579 11743580 12499475 12707075 15377708 15944907 16343542
GDAP1 607706 Muscular-atrophy muscle wasting; distal neurologic 11743580 12601710 15019704 15805163
GDAP1 608340 Muscular-atrophy calf muscle atrophy; foot muscles atrophy; thenar muscle atrophy; hypothenar muscles atrophy; muscle wasting neurologic 12566285
HADH 231530 Muscular-atrophy spinal muscular atrophy like neurologic 10347277
HADHA 609015 Muscular-atrophy muscle wasting; lower extremities; hands neurologic 15902556
HADHA 609016 Muscular-atrophy spinal muscular atrophy like neurologic 9003853
HADHB 609015 Muscular-atrophy muscle fiber atrophy; denervating process neurologic 12754706
KIF1B 118210 Muscular-atrophy distal extremities; anterior tibial; posterior tibial; peroneal muscles neurologic 9409358 11389829
LRRK2 607060 Muscular-atrophy muscle wasting; amyotrophia neurologic 15541309 15732106
MFN2 601152 Muscular-atrophy muscle atrophy neurologic 16437557
MFN2 609260 Muscular-atrophy distal extremities; distal atrophy; thenar atrophy; hypothenar atrophy neurologic 8406488 10732809 11148244 12601114 15064763 15136675 15549395 16043786 16087932 16714318
MPV17 256810 Muscular-atrophy neurogenic atrophy; wasting neurologic 10518083 11431741
NDUFA12L 252010 Muscular-atrophy muscle wasting neurologic 16200211
NDUFS1 252010 Muscular-atrophy type 2 fiber atrophy neurologic 15824269
NDUFS4 252010 Muscular-atrophy fiber atrophy; atrophy of some fibers neurologic 10944442
NDUFS8 252010 Muscular-atrophy type 1 fiber atrophy neurologic 9837812 15981016
NDUFV1 252010 Muscular-atrophy fiber atrophy; fiber degeneration; fiber disorganization neurologic 15981016
OAT 258870 Muscular-atrophy type 2 fiber atrophy; selective atrophy; degeneration of type II muscle fibres neurologic 4088625 6786998 8982944 10354199 10430418
PANK2 234200 Muscular-atrophy decreased muscle mass; mild atrophy; tongue atrophy neurologic 7503394 12811783
PARK7 105500 Muscular-atrophy muscle wasting; amyotrophia; amyotrophic lateral sclerosis; weight loss neurologic 16240358
PDHA1 312170 Muscular-atrophy morphological changes; type 2 fiber atrophy; amyotrophy neurologic 9187674 15558317
PEO1 271245 Muscular-atrophy thigh muscles; lower extremities; hand muscles neurologic 8133312 9879682
PEO1 609286 Muscular-atrophy proximal; shoulder; quadriceps muscles neurologic 15258213
POLG 258450 Muscular-atrophy distal lower limbs; muscle wasting neurologic 15477547 16401742 16715201
POLG 607459 Muscular-atrophy muscle wasting; amyotrophy; progressive muscle atrophy neurologic 12565911 15824347
PUS1 600462 Muscular-atrophy muscle wasting; peripheral neurologic 7726239 14981724
SCO2 604377 Muscular-atrophy muscle atrophy; muscle hypertrophy; spinal muscular atrophy neurologic 12020273 14994243
SDHA 252011 Muscular-atrophy legs; lower extremities neurologic 10746566
SDHB 115310 Muscular-atrophy muscle wasting; trapezius muscle wasting neurologic 16405730
SLC25A15 238970 Muscular-atrophy lower extremities neurologic 10805333
SLC25A4 609283 Muscular-atrophy type 2 fiber atrophy; thin muscles neurologic 12112115 15792871
SOD1 105400 Muscular-atrophy muscle wasting; lower extremities; reduction in myelinated fibers; neurogenic; amyotrophia; brachial amyotrophic diplegia; facial muscles; tongue atrophy; wasting neurologic 7624031 7647793 8907321 9444365 9455977 9455983 10430435 10732812 10751275 12480087 14517684 15235802 15851752 16423367
SPAST 182601 Muscular-atrophy muscle wasting; lower extremities amyotrophy; amyotrophy; distal wasting neurologic 10699187 11015453 11134375 15197701 15667412
SPG7 607259 Muscular-atrophy muscle wasting; hands; tibialis anterior thinning; amyotrophy; fiber atrophy; type 1 fibre predominance; type 2 fiber atrophy; denervation changes neurologic 9634528 11222789 16534102
SURF1 220110 Muscular-atrophy type 1 fiber atrophy neurologic 10746561 14557577 16225813
TAZ 302060 Muscular-atrophy moderate atrophy neurologic 15098233
TIMM8A 304700 Muscular-atrophy neurogenic; neurogenic atrophy; subsarcolemmal aggregation of mitochondria; atrophy of hand muscles; abnormal amounts of fatty vacuoles neurologic 10878669 11803487 12805099
TIMM8A 311150 Muscular-atrophy moderate atrophy; diffuse; muscle wasting neurologic 3425626 7195649
TK2 609560 Muscular-atrophy progressive; muscle wasting; spinal muscular atrophy; proximal muscles; head; neck; shoulder; pelvic girdle; type 1 fiber prevalence neurologic 12391347 12682338 15907288 16504786

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