Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle physiology (HP:0011804)help
Parent Node:
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Muscle spasm (HP:0003394)help
..Starting node
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Cold-induced muscle cramps (HP:0003449)help
Term ID: 3449
Name: Cold-induced muscle cramps
Synonym:
Definition: Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.
Comments:
Reference: HP:0003449
Genes and Diseases:
 
       Child Nodes:
........expandCold-induced hand cramps (HP:0003435) help

 Sister Nodes: 
..expandExercise-induced muscle cramps (HP:0003710) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003449HP:0003449Cold-induced muscle cramps0BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5105
HP:0003449HP:0003449Cold-induced muscle cramps0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040282 - Frequent11
HP:0003449HP:0003449Cold-induced muscle cramps0CPT2 CL E G H13762330ORPHA:228302Carnitine palmitoyl transferase II deficiency, myopathic formHP:0040283 - Occasional101
HP:0003449HP:0003449Cold-induced muscle cramps0CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile formHP:0040282 - Frequent101
HP:0003449HP:0003449Cold-induced muscle cramps0GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D
HP:0003449HP:0003449Cold-induced muscle cramps0GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5
HP:0003449HP:0003449Cold-induced muscle cramps0GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA
HP:0003449HP:0003449Cold-induced muscle cramps0MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B.134
HP:0003449HP:0003449Cold-induced muscle cramps0PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A.79
HP:0003449HP:0003449Cold-induced muscle cramps0REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 587
HP:0003449HP:0003435Cold-induced hand cramps1BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent105
HP:0003449HP:0003435Cold-induced hand cramps1GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D.
HP:0003449HP:0003435Cold-induced hand cramps1GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent
HP:0003449HP:0003435Cold-induced hand cramps1GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA.
HP:0003449HP:0003435Cold-induced hand cramps1REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent87


Genes (7) :BSCL2 CHCHD10 CPT2 GARS1 MPZ PMP22 REEP1

Diseases (8) :ORPHA:139536 ORPHA:276435 ORPHA:228302 ORPHA:228305 OMIM:601472 OMIM:600794 OMIM:118200 OMIM:118220
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.