Human Phenotype Ontology 
Grandparent Node:
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Skeletal muscle atrophy (HP:0003202)help
Parent Node:
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Distal amyotrophy (HP:0003693)help
Parent Node:
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Lower limb amyotrophy (HP:0007210)help
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Distal lower limb amyotrophy (HP:0008944)help
Term ID: 8944
Name: Distal lower limb amyotrophy
Synonym: Lower leg amyotrophy; Lower limb atrophy; Lower limb degeneration; Lower limb muscle hypotrophy; Muscle atrophy, lower limb, distal
Definition: Muscular atrophy of distal leg muscles.
Comments:
Reference: HP:0008944
Genes and Diseases:
 
       Child Nodes:
........expandTibialis atrophy (HP:0011399) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0008944HP:0008944Distal lower limb amyotrophy0ATL1 CL E G H51062100984ORPHA18522011231606439
HP:0008944HP:0008944Distal lower limb amyotrophy0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM18522011231606439
HP:0008944HP:0008944Distal lower limb amyotrophy0ATXN3 CL E G H4287276244ORPHA13347106607047
HP:0008944HP:0008944Distal lower limb amyotrophy0BICD2 CL E G H23299363454ORPHA13532317208609797
HP:0008944HP:0008944Distal lower limb amyotrophy0CPT1C CL E G H126129444099ORPHA128118540608846
HP:0008944HP:0008944Distal lower limb amyotrophy0FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM13041519125611104
HP:0008944HP:0008944Distal lower limb amyotrophy0FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM111416833756102565
HP:0008944HP:0008944Distal lower limb amyotrophy0FLRT1 CL E G H23769320406ORPHA11693760604806
HP:0008944HP:0008944Distal lower limb amyotrophy0GJB1 CL E G H2705101075ORPHA14996684283304040
HP:0008944HP:0008944Distal lower limb amyotrophy0GJB1 CL E G H27051175CDK4 linked melanomaORPHA14996684283304040
HP:0008944HP:0008944Distal lower limb amyotrophy0HSPB1 CL E G H331599940ORPHA1482265246602195
HP:0008944HP:0008944Distal lower limb amyotrophy0INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM17362523791610982
HP:0008944HP:0008944Distal lower limb amyotrophy0KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM15632711114314690
HP:0008944HP:0008944Distal lower limb amyotrophy0KLC2 CL E G H64837320406ORPHA132520716611729
HP:0008944HP:0008944Distal lower limb amyotrophy0LMNA CL E G H4000181350Benign scapuloperoneal muscular dystrophy with cardiomyopathy181350C0410190OMIM157411526636150330
HP:0008944HP:0008944Distal lower limb amyotrophy0MAG CL E G H4099459056ORPHA14896783159460
HP:0008944HP:0008944Distal lower limb amyotrophy0TCAP CL E G H8557601954Limb-girdle muscular dystrophy, type 2G601954C1866008OMIM12816611610604488
HP:0008944HP:0008944Distal lower limb amyotrophy0TFG CL E G H10342431329ORPHA1814811758602498
HP:0008944HP:0008944Distal lower limb amyotrophy0TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM12822512012191030
HP:0008944HP:0008944Distal lower limb amyotrophy1ATL1 CL E G H51062100984ORPHA18522011231606439
HP:0008944HP:0008944Distal lower limb amyotrophy1ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM18522011231606439
HP:0008944HP:0008944Distal lower limb amyotrophy1ATXN3 CL E G H4287276244ORPHA13347106607047
HP:0008944HP:0008944Distal lower limb amyotrophy1BICD2 CL E G H23299363454ORPHA13532317208609797
HP:0008944HP:0008944Distal lower limb amyotrophy1CPT1C CL E G H126129444099ORPHA128118540608846
HP:0008944HP:0008944Distal lower limb amyotrophy1FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM13041519125611104
HP:0008944HP:0008944Distal lower limb amyotrophy1FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM111416833756102565
HP:0008944HP:0008944Distal lower limb amyotrophy1FLRT1 CL E G H23769320406ORPHA11693760604806
HP:0008944HP:0008944Distal lower limb amyotrophy1GJB1 CL E G H2705101075ORPHA14996684283304040
HP:0008944HP:0008944Distal lower limb amyotrophy1GJB1 CL E G H27051175CDK4 linked melanomaORPHA14996684283304040
HP:0008944HP:0008944Distal lower limb amyotrophy1HSPB1 CL E G H331599940ORPHA1482265246602195
HP:0008944HP:0008944Distal lower limb amyotrophy1INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM17362523791610982
HP:0008944HP:0008944Distal lower limb amyotrophy1KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM15632711114314690
HP:0008944HP:0008944Distal lower limb amyotrophy1KLC2 CL E G H64837320406ORPHA132520716611729
HP:0008944HP:0008944Distal lower limb amyotrophy1LMNA CL E G H4000181350Benign scapuloperoneal muscular dystrophy with cardiomyopathy181350C0410190OMIM157411526636150330
HP:0008944HP:0008944Distal lower limb amyotrophy1MAG CL E G H4099459056ORPHA14896783159460
HP:0008944HP:0008944Distal lower limb amyotrophy1TCAP CL E G H8557601954Limb-girdle muscular dystrophy, type 2G601954C1866008OMIM12816611610604488
HP:0008944HP:0008944Distal lower limb amyotrophy1TFG CL E G H10342431329ORPHA1814811758602498
HP:0008944HP:0008944Distal lower limb amyotrophy1TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM12822512012191030
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008944HP:0008944Distal lower limb amyotrophy0ATXN3 CL E G H4287276241ORPHA03347106607047
HP:0008944HP:0008944Distal lower limb amyotrophy0ATXN3 CL E G H4287276238ORPHA03347106607047
HP:0008944HP:0008944Distal lower limb amyotrophy0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0008944HP:0008944Distal lower limb amyotrophy0HINT1 CL E G H3094324442ORPHA015824912601314
HP:0008944HP:0008944Distal lower limb amyotrophy0MFN2 CL E G H992799947ORPHA023168016877608507
HP:0008944HP:0008944Distal lower limb amyotrophy0MT-TE CL E G H45562596HantavirosisORPHA07479590025
HP:0008944HP:0008944Distal lower limb amyotrophy1ATXN3 CL E G H4287276241ORPHA03347106607047
HP:0008944HP:0008944Distal lower limb amyotrophy1ATXN3 CL E G H4287276238ORPHA03347106607047
HP:0008944HP:0008944Distal lower limb amyotrophy1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0008944HP:0008944Distal lower limb amyotrophy1HINT1 CL E G H3094324442ORPHA015824912601314
HP:0008944HP:0008944Distal lower limb amyotrophy1MFN2 CL E G H992799947ORPHA023168016877608507
HP:0008944HP:0008944Distal lower limb amyotrophy1MT-TE CL E G H45562596HantavirosisORPHA07479590025


Genes (22) :ATL1 ATXN3 BICD2 CPT1C CUL4B FGD4 FLNC FLRT1 GJB1 HINT1 HSPB1 INF2 KDM5C KLC2 LMNA MAG MFN2 RYR1 TCAP TFG TPM3 TRNE

Diseases (25) :100984 182600 276238 276244 276241 363454 444099 300354 609311 614065 320406 101075 1175 324442 99940 614455 300534 181350 459056 99947 601954 431329 609284 2596 98905
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.