Choreoathetosis

Symptom Information:

Symptom ID: HPO:0001266
Synonyms:
Choreoathetoid movements [HPO:0001266]
Choreoathetosis (disorder) [Orphanet:43250]
Choreoathetosis [Orphanet:43250]
Choreoathetoid movements [OMIM:Choreoathetoid movements]
Choreoathetosis [OMIM:Choreoathetosis]
Chorea/athetosis/choreoathetosis/choreic syndrome [Orphanet:43250]
Choreoathetosis [MedDRA:10008754]
Choreoathetoid movements [MedDRA:10008754]
Choreoathetosis (described in 1 patient) [OMIM:Choreoathetosis (described in 1 patient)]
Choreoathetosis (in 2 of 7 patients) [OMIM:Choreoathetosis (in 2 of 7 patients)]
Choreoathetosis (in a subset of patients) [OMIM:Choreoathetosis (in a subset of patients)]
Choreoathetosis (in some patients) [OMIM:Choreoathetosis (in some patients)]
Quality:
Cross references:
Orphanet:43250 "Chorea/athetosis/choreoathetosis/choreic syndrome" [Orphanet:43250]
OMIM: "Choreoathetoid movements" [OMIM:Choreoathetoid movements]
OMIM: "Choreoathetosis" [OMIM:Choreoathetosis]
OMIM: "Choreoathetosis (described in 1 patient)" [OMIM:Choreoathetosis (described in 1 patient)]
OMIM: "Choreoathetosis (in 2 of 7 patients)" [OMIM:Choreoathetosis (in 2 of 7 patients)]
OMIM: "Choreoathetosis (in a subset of patients)" [OMIM:Choreoathetosis (in a subset of patients)]
OMIM: "Choreoathetosis (in some patients)" [OMIM:Choreoathetosis (in some patients)]
UMLS:C0085583 "Choreoathetosis" [HPO:0001266]
UMLS:C0085583 "Choreoathetosis" [Orphanet:43250]
Is a (Direct Parents):
Orphanet Abnormality of movement
MedDRA Chorea
HPO         Chorea
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the musculature(HPO:0003011)
          Abnormality of muscle physiology(HPO:0011804)
             Involuntary movements(HPO:0004305)
                Chorea(HPO:0002072)
                   Choreoathetosis(HPO:0001266)
       Abnormality of the nervous system(HPO:0000707)
          Abnormality of nervous system physiology(HPO:0012638)
             Abnormality of movement(HPO:0100022)
                Involuntary movements(HPO:0004305)
                   Chorea(HPO:0002072)
                      Choreoathetosis(HPO:0001266)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Abnormality of movement(HPO:0100022)
       Chorea(HPO:0002072)
          Choreoathetosis(HPO:0001266)
Database Frequency: 57 / 7739
Resource:

All diseases associated with this symptom:

2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
6-pyruvoyl-tetrahydropterin synthase deficiency (Orphanet:13)
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 (OMIM:104290)
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
ATAXIA-TELANGIECTASIA (OMIM:208900)
Aceruloplasminemia (Orphanet:48818)
Alternating hemiplegia of childhood (Orphanet:2131)
Amish infantile epilepsy syndrome (Orphanet:171714)
Aromatic L-amino acid decarboxylase deficiency (Orphanet:35708)
Ataxia - oculomotor apraxia type 1 (Orphanet:1168)
Ataxia-telangiectasia (Orphanet:100)
Brain-lung-thyroid syndrome (Orphanet:209905)
Combined oxidative phosphorylation defect type 13 (Orphanet:319514)
DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA (OMIM:221950)
Dentatorubral pallidoluysian atrophy (Orphanet:101)
Dihydropteridine reductase deficiency (Orphanet:226)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD (OMIM:130950)
Early infantile epileptic encephalopathy (Orphanet:1934)
Encephalopathy due to GLUT1 deficiency (Orphanet:71277)
GTP cyclohydrolase I deficiency (Orphanet:2102)
Glutaryl-CoA dehydrogenase deficiency (Orphanet:25)
Hallermann-Streiff syndrome (Orphanet:2108)
Hypomyelination with atrophy of basal ganglia and cerebellum (Orphanet:139441)
Infantile epileptic-dyskinetic encephalopathy (Orphanet:364063)
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures (Orphanet:1568)
Intellectual deficit, X-linked - psychosis - macroorchidism (Orphanet:3077)
Intellectual deficit, X-linked, Schimke type (Orphanet:85285)
Isolated sulfite oxidase deficiency (Orphanet:99731)
LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT (OMIM:308950)
LESCH-NYHAN SYNDROME (OMIM:300322)
Lesch-Nyhan syndrome (Orphanet:510)
Menkes disease (Orphanet:565)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Multiple congenital anomalies - hypotonia - seizures syndrome (Orphanet:280633)
Neuroferritinopathy (Orphanet:157846)
Niemann-Pick disease type C (Orphanet:646)
OCULORENOCEREBELLAR SYNDROME (OMIM:257970)
PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Pantothenate kinase-associated neurodegeneration (Orphanet:157850)
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity (Orphanet:53583)
Paroxysmal exertion-induced dyskinesia (Orphanet:98811)
Pelizaeus-Merzbacher-like due to GJC2 mutation (Orphanet:280282)
Pelizaeus-Merzbacher-like due to HSPD1 mutation (Orphanet:280288)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase E2 deficiency (Orphanet:79244)
Pyruvate dehydrogenase deficiency (Orphanet:765)
STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Orphanet:35123)
Spasticity - intellectual deficit - X-linked epilepsy (Orphanet:3175)
Woodhouse-Sakati syndrome (Orphanet:3464)
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome (Orphanet:85295)
XYLOSIDASE DEFICIENCY (OMIM:278900)
Xeroderma pigmentosum complementation group A (Orphanet:276249)
Xeroderma pigmentosum complementation group D (Orphanet:276258)
Xeroderma pigmentosum/Cockayne syndrome complex (Orphanet:220295)