BHC
MCID: CHR630
MIFTS: 43

Chorea, Benign Hereditary (BHC)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Chorea, Benign Hereditary

MalaCards integrated aliases for Chorea, Benign Hereditary:

Name: Chorea, Benign Hereditary 56
Benign Hereditary Chorea 52 58 36 29 6 71
Chorea, Hereditary Benign 56 73 13
Bhc 56 58 73
Hereditary Progressive Chorea Without Dementia 56
Hereditary Chorea Without Dementia 73
Chorea, Hereditary, Benign 39
Chorea Benign Hereditary 54
Chorea, Benign Familial 71
Chorea Familial Benign 52
Benign Familial Chorea 58
Bch 56

Characteristics:

Orphanet epidemiological data:

58
benign hereditary chorea
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in childhood (usually before age 5 years)
allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress , which is a more severe disorder


HPO:

31
chorea, benign hereditary:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 118700
KEGG 36 H00860
MeSH 43 D002819
ICD10 via Orphanet 33 G25.5
UMLS via Orphanet 72 C0393584 C1859098
Orphanet 58 ORPHA1429
MedGen 41 C0393584
UMLS 71 C0393584 C1859098

Summaries for Chorea, Benign Hereditary

NIH Rare Diseases : 52 Benign hereditary chorea (BHC) is a rare movement disorder that begins in infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus ), upper limb dystonia , motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can have normal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism ) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.

MalaCards based summary : Chorea, Benign Hereditary, also known as benign hereditary chorea, is related to movement disease and choreatic disease. An important gene associated with Chorea, Benign Hereditary is NKX2-1 (NK2 Homeobox 1), and among its related pathways/superpathways are Thyroid hormone synthesis and Aldosterone synthesis and secretion. Affiliated tissues include thyroid, lung and brain, and related phenotypes are gait disturbance and dysarthria

OMIM : 56 Benign hereditary chorea (BHC) is an autosomal dominant movement disorder that manifests before age 5 years and has a stationary or only slightly progressive course. Intelligence is normal or slightly below normal and mental deterioration is not seen. In some families, the choreic movements decrease during adolescence or early adulthood (summary by Breedveld et al., 2002). (118700)

KEGG : 36 Benign hereditary chorea (BHC) is a rare, autosomal dominant, static disorder characterized by onset of chorea in conjunction with hypothyroidism and respiratory problems. Features supporting this diagnosis include normal general examination with no dysmorphic features, broadly normal intellectual development with no regression or loss of cognitive skills, absence of other significant neurologic disturbances, and, with the exception of chorea, normal neurologic examination findings. Mutations in the TTF1 gene encoding the thyroid transcription factor-1 have been identified in a number of BHC patients, suggesting that aberration of TTF1 transcriptional function or haploinsufficiency is associated with this disorder. TTF1, belonging to the NKX2 homeodomain transcription factor family, has been implicated in several important molecular pathways essential for brain, thyroid and lung morphogenesis.

UniProtKB/Swiss-Prot : 73 Chorea, hereditary benign: A rare autosomal dominant movement disorder, defined by early onset in childhood, a stable or non-progressive course of chorea, and no mental deterioration. Chorea is characterized by involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement.

Wikipedia : 74 Benign hereditary chorea (BHC), also known as benign familial chorea, is a rare autosomal dominant... more...

Related Diseases for Chorea, Benign Hereditary

Diseases in the Chorea, Benign Familial family:

Chorea, Benign Hereditary

Diseases related to Chorea, Benign Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 movement disease 30.1 NKX2-1 GNAO1
2 choreatic disease 29.9 NKX2-1 GNAO1 ADCY5
3 chorea, childhood-onset, with psychomotor retardation 28.4 RHOBTB2 PDE2A GNAO1 FRRS1L CSTB
4 dystonia 27.9 RHOBTB2 PDE2A NKX2-1 CSTB ADCY5
5 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.9
6 chorea, benign familial 11.7
7 testicular seminoma 11.3
8 hypothyroidism 10.5
9 ataxia and polyneuropathy, adult-onset 10.4
10 myoclonus 10.4
11 loiasis 10.3
12 congenital hypothyroidism 10.3
13 hepatocellular carcinoma 10.3
14 malaria 10.3
15 hyperglycemia 10.3
16 tremor 10.3
17 hypotonia 10.2
18 prostate cancer 10.2
19 generalized epilepsy with febrile seizures plus 10.2
20 neuroblastoma 10.2
21 huntington disease 10.2
22 tic disorder 10.2
23 dementia 10.1
24 erythroleukemia, familial 10.1
25 myeloma, multiple 10.1
26 epidemic typhus 10.1
27 chagas disease 10.1
28 scrub typhus 10.1
29 plague 10.1
30 skin disease 10.1
31 pediculus humanus capitis infestation 10.1
32 lice infestation 10.1
33 scabies 10.1
34 virus-associated trichodysplasia spinulosa 10.1
35 dentatorubral-pallidoluysian atrophy 10.1
36 huntington disease-like 2 10.1
37 spinocerebellar ataxia 17 10.1
38 apraxia 10.1
39 autosomal dominant cerebellar ataxia 10.1
40 lung disease 10.1
41 adcy5-related dyskinesia 10.1
42 oculomotor apraxia 10.1
43 thrombophilia due to thrombin defect 10.1
44 osteogenic sarcoma 10.1
45 pancreatic cancer 10.1
46 allergic rhinitis 10.1
47 acute promyelocytic leukemia 10.1
48 pachyonychia congenita 3 10.1
49 pollen allergy 10.1
50 non-alcoholic fatty liver disease 10.1

Graphical network of the top 20 diseases related to Chorea, Benign Hereditary:



Diseases related to Chorea, Benign Hereditary

Symptoms & Phenotypes for Chorea, Benign Hereditary

Human phenotypes related to Chorea, Benign Hereditary:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
2 dysarthria 31 occasional (7.5%) HP:0001260
3 abnormality of movement 58 Very frequent (99-80%)
4 anxiety 31 HP:0000739
5 motor delay 31 HP:0001270
6 chorea 31 HP:0002072

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
chorea
delayed motor development
dysarthria may occur
gait abnormalities may occur
movements are exacerbated by anxiety
more

Clinical features from OMIM:

118700

Drugs & Therapeutics for Chorea, Benign Hereditary

Search Clinical Trials , NIH Clinical Center for Chorea, Benign Hereditary

Genetic Tests for Chorea, Benign Hereditary

Genetic tests related to Chorea, Benign Hereditary:

# Genetic test Affiliating Genes
1 Benign Hereditary Chorea 29 NKX2-1

Anatomical Context for Chorea, Benign Hereditary

MalaCards organs/tissues related to Chorea, Benign Hereditary:

40
Thyroid, Lung, Brain, Pituitary, Eye, Cortex, Testes

Publications for Chorea, Benign Hereditary

Articles related to Chorea, Benign Hereditary:

(show top 50) (show all 109)
# Title Authors PMID Year
1
Mutations in TITF-1 are associated with benign hereditary chorea. 54 6 56 61
11971878 2002
2
Benign hereditary chorea: clinical, genetic, and pathological findings. 61 6 56
12891678 2003
3
Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. 61 6 54
16220345 2005
4
NKX2-1-Related Disorders 6 61
24555207 2014
5
Clinical and genetic heterogeneity in benign hereditary chorea. 56 61
12196653 2002
6
Hereditary benign chorea: clinical and genetic features of a distinct disease. 61 56
11445636 2001
7
Benign hereditary chorea of early onset maps to chromosome 14q. 56 61
10631144 2000
8
Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus: report of a family. 56 61
7634535 1995
9
Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea. 61 56
8133497 1993
10
Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8). 56 61
2895189 1988
11
Benign hereditary chorea--response to steroids. 56 61
4092854 1985
12
Benign hereditary chorea. Clinical and genetic aspects. 61 56
624192 1978
13
Hereditary progressive chorea without dementia. 56
2964512 1988
14
Benign (nonparoxysmal) familial chorea of early onset: an electroneurophysiological examination of two families. 56
3159307 1985
15
Hereditary chorea without dementia. 56
144176 1977
16
Familial essential ("benign") chorea. 56
1003446 1976
17
Benign familial chorea with onset in childhood. 56
4269386 1973
18
Hereditary nonprogressive chorea of early onset. 56
4225827 1967
19
Familial benign chorea with intention tremor: a clinical entity. 56
4225654 1967
20
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. 61 54
19336474 2009
21
A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. 61 54
18788921 2008
22
Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. 54 61
18661567 2008
23
Benign hereditary chorea: clinical, neuroimaging, and genetic findings. 54 61
17940252 2007
24
New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. 54 61
17044090 2006
25
Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause. 54 61
16830318 2006
26
Alterations of striatal neurons in benign hereditary chorea. 61 54
15986422 2005
27
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. 54 61
15955952 2005
28
Benign hereditary chorea: From benign to serious. 61
31983472 2020
29
Combined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia: A case report. 61
32195974 2020
30
Chorea. 61
31356291 2019
31
PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder. 61
30956058 2019
32
Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by NKX2-1 Mutations. 61
30746413 2019
33
A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture? 61
30793011 2019
34
Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP? 61
29621620 2018
35
l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report. 61
29289388 2018
36
NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement. 61
30186310 2018
37
A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1. 61
28286255 2017
38
Huntington's Disease, Huntington's Disease Look-Alikes‎, and Benign Hereditary Chorea: What's New? 61
30713928 2016
39
Phenotypic insights into ADCY5-associated disease. 61
27061943 2016
40
ADCY5 mutations are another cause of benign hereditary chorea. 61
26952302 2016
41
Benign hereditary chorea related to NKX2-1 with ataxia and dystonia. 61
27066577 2016
42
A Video Report of Brain-Lung-Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the NKX2-1 Gene. 61
28503612 2016
43
Benign hereditary chorea, not only chorea: a family case presentation. 61
26839702 2016
44
Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea. 61
26723978 2016
45
ADCY5 identified as a novel cause of benign hereditary chorea. 61
26408352 2015
46
ADCY5 Mutations and Benign Hereditary Chorea. 61
26933606 2015
47
Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations. 61
25412988 2015
48
ADCY5 mutations are another cause of benign hereditary chorea. 61
26085604 2015
49
Isolated and combined dystonia syndromes - an update on new genes and their phenotypes. 61
25643588 2015
50
Action selection in a possible model of striatal medium spiny neuron dysfunction: behavioral and EEG data in a patient with benign hereditary chorea. 61
24135770 2015

Variations for Chorea, Benign Hereditary

ClinVar genetic disease variations for Chorea, Benign Hereditary:

6 (show top 50) (show all 63) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NKX2-1 NM_001079668.3(NKX2-1):c.1050del (p.Gln350fs)deletion Pathogenic 495058 rs1555349146 14:36986639-36986639 14:36517434-36517434
2 RHOBTB2 NM_001160036.2(RHOBTB2):c.1532G>A (p.Arg511Gln)SNV Pathogenic 545418 rs1554504684 8:22865224-22865224 8:23007711-23007711
3 NKX2-1 NM_001079668.3(NKX2-1):c.(?_-1)_*(1206_?)deldeletion Pathogenic 635557 14:36985277-36989335 14:36516072-36520130
4 PDE2A NM_002599.5(PDE2A):c.1180C>T (p.Gln394Ter)SNV Pathogenic 689477 11:72297116-72297116 11:72586072-72586072
5 NKX2-1 NC_000014.8:g.(36407609_36463186)_(37638963_37670256)deldeletion Pathogenic 8972 14:36407609-37670256
6 NKX2-1 NM_001079668.3(NKX2-1):c.727C>A (p.Arg243Ser)SNV Pathogenic 8973 rs28936671 14:36986962-36986962 14:36517757-36517757
7 NKX2-1 NM_001079668.3(NKX2-1):c.713G>T (p.Trp238Leu)SNV Pathogenic 8974 rs28936672 14:36986976-36986976 14:36517771-36517771
8 NKX2-1 NM_001079668.3(NKX2-1):c.908del (p.Gly303fs)deletion Pathogenic 8975 rs387906404 14:36986781-36986781 14:36517576-36517576
9 NKX2-1 NM_001079668.3(NKX2-1):c.745C>T (p.Gln249Ter)SNV Pathogenic 8980 rs137852694 14:36986944-36986944 14:36517739-36517739
10 FRRS1L NM_014334.3(FRRS1L):c.961C>T (p.Gln321Ter)SNV Pathogenic 218151 rs878853280 9:111899809-111899809 9:109137529-109137529
11 FRRS1L NM_014334.3(FRRS1L):c.845G>A (p.Trp282Ter)SNV Pathogenic 218152 rs878853281 9:111903640-111903640 9:109141360-109141360
12 FRRS1L NM_014334.3(FRRS1L):c.436dup (p.Ile146fs)duplication Pathogenic 218154 rs878853283 9:111911955-111911956 9:109149675-109149676
13 FRRS1L NM_014334.3(FRRS1L):c.737_739del (p.Gly246del)deletion Pathogenic/Likely pathogenic 218153 rs878853282 9:111903746-111903748 9:109141466-109141468
14 GNAO1 NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys)SNV Pathogenic/Likely pathogenic 420523 rs1064794533 16:56370758-56370758 16:56336846-56336846
15 CSTB NM_000100.3(CSTB):c.67-1G>CSNV Pathogenic/Likely pathogenic 8395 rs147484110 21:45194641-45194641 21:43774760-43774760
16 SLC9A6 NM_001042537.1(SLC9A6):c.1728-19_1728-3deldeletion Likely pathogenic 598968 rs1569525894 X:135122214-135122230 X:136040055-136040071
17 NKX2-1 NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg)SNV Likely pathogenic 689773 14:36986817-36986817 14:36517612-36517612
18 NKX2-1 NM_001079668.3(NKX2-1):c.303_319del (p.Ala103fs)deletion Likely pathogenic 807451 14:36988334-36988350 14:36519129-36519145
19 GNAO1 NM_020988.3(GNAO1):c.545C>T (p.Thr182Ile)SNV Likely pathogenic 812779 16:56368721-56368721 16:56334809-56334809
20 NKX2-1 NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val)SNV Conflicting interpretations of pathogenicity 487553 rs537209983 14:36986583-36986583 14:36517378-36517378
21 NKX2-1 NM_001079668.3(NKX2-1):c.925G>T (p.Ala309Ser)SNV Uncertain significance 313141 rs886050482 14:36986764-36986764 14:36517559-36517559
22 NKX2-1 NM_001079668.3(NKX2-1):c.201G>A (p.Pro67=)SNV Uncertain significance 313146 rs747491554 14:36988452-36988452 14:36519247-36519247
23 DNMT1 NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu)SNV Uncertain significance 373927 rs1057518774 19:10259562-10259562 19:10148886-10148886
24 NKX2-1 NM_001079668.3(NKX2-1):c.435C>G (p.Gly145=)SNV Uncertain significance 313145 rs886050484 14:36988218-36988218 14:36519013-36519013
25 NKX2-1 NM_001079668.3(NKX2-1):c.-71C>ASNV Uncertain significance 313148 rs886050485 14:36989405-36989405 14:36520200-36520200
26 NKX2-1 NM_001079668.3(NKX2-1):c.*470A>GSNV Uncertain significance 313126 rs886050479 14:36986013-36986013 14:36516808-36516808
27 NKX2-1 NM_001079668.3(NKX2-1):c.1200C>T (p.Thr400=)SNV Uncertain significance 313138 rs886050481 14:36986489-36986489 14:36517284-36517284
28 NKX2-1 NM_001079668.3(NKX2-1):c.816C>T (p.Thr272=)SNV Uncertain significance 313142 rs886050483 14:36986873-36986873 14:36517668-36517668
29 NKX2-1 NM_001079668.3(NKX2-1):c.*820A>GSNV Uncertain significance 313122 rs886050477 14:36985663-36985663 14:36516458-36516458
30 NKX2-1 NM_001079668.3(NKX2-1):c.*460deldeletion Uncertain significance 313128 rs5807883 14:36986023-36986023 14:36516818-36516818
31 NKX2-1 NM_001079668.3(NKX2-1):c.*185_*186dupduplication Uncertain significance 313136 rs1555349072 14:36986296-36986297 14:36517091-36517092
32 NKX2-1 NM_001079668.3(NKX2-1):c.*460dupduplication Uncertain significance 313129 rs5807883 14:36986022-36986023 14:36516817-36516818
33 NKX2-1 NM_001079668.3(NKX2-1):c.*210dupduplication Uncertain significance 313132 rs886050480 14:36986272-36986273 14:36517067-36517068
34 NKX2-1 NM_001079668.3(NKX2-1):c.*186dupduplication Uncertain significance 313135 rs1555349072 14:36986296-36986297 14:36517091-36517092
35 NKX2-1 NM_001079668.3(NKX2-1):c.*577C>TSNV Uncertain significance 883820 14:36985906-36985906 14:36516701-36516701
36 NKX2-1 NM_001079668.3(NKX2-1):c.*536C>TSNV Uncertain significance 883821 14:36985947-36985947 14:36516742-36516742
37 NKX2-1 NM_001079668.3(NKX2-1):c.918G>T (p.Ala306=)SNV Uncertain significance 883116 14:36986771-36986771 14:36517566-36517566
38 NKX2-1 NM_001079668.3(NKX2-1):c.911C>A (p.Ala304Asp)SNV Uncertain significance 883117 14:36986778-36986778 14:36517573-36517573
39 NKX2-1 NM_001079668.3(NKX2-1):c.786C>T (p.Asp262=)SNV Uncertain significance 883893 14:36986903-36986903 14:36517698-36517698
40 RTN4IP1 NM_032730.5(RTN4IP1):c.263T>G (p.Val88Gly)SNV Uncertain significance 916015 6:107076634-107076634 6:106628759-106628759
41 CRYBG1 , QRSL1 , RTN4IP1 deletion Uncertain significance 916131 6:106539151-106629957
42 CASR NM_000388.4(CASR):c.1609-27C>TSNV Uncertain significance 598997 rs4678175 3:122000933-122000933 3:122282086-122282086
43 TRH NM_007117.5(TRH):c.25G>A (p.Ala9Thr)SNV Uncertain significance 598998 rs772388530 3:129694684-129694684 3:129975841-129975841
44 DNMT1 NM_001130823.3(DNMT1):c.3362G>T (p.Ser1121Ile)SNV Uncertain significance 599001 rs1202584286 19:10251813-10251813 19:10141137-10141137
45 CACNA1A NM_001127221.1(CACNA1A):c.2396A>T (p.Asp799Val)SNV Uncertain significance 397544 rs1060499675 19:13410054-13410054 19:13299240-13299240
46 PCDH19 NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys)SNV Uncertain significance 159556 rs376390125 X:99657779-99657779 X:100402781-100402781
47 NKX2-1 NM_001079668.3(NKX2-1):c.*544G>ASNV Uncertain significance 313125 rs886050478 14:36985939-36985939 14:36516734-36516734
48 NKX2-1 NM_001079668.3(NKX2-1):c.*459_*460dupduplication Uncertain significance 313127 rs5807883 14:36986022-36986023 14:36516817-36516818
49 NKX2-1 NM_001079668.3(NKX2-1):c.*14C>TSNV Likely benign 313137 rs755542970 14:36986469-36986469 14:36517264-36517264
50 NKX2-1 NM_001079668.3(NKX2-1):c.*581deldeletion Likely benign 313123 rs534281105 14:36985902-36985902 14:36516697-36516697

UniProtKB/Swiss-Prot genetic disease variations for Chorea, Benign Hereditary:

73
# Symbol AA change Variation ID SNP ID
1 NKX2-1 p.Trp208Leu VAR_015188 rs28936672
2 NKX2-1 p.Arg213Ser VAR_015189 rs28936671
3 NKX2-1 p.Gln172His VAR_075209
4 NKX2-1 p.Trp208Ser VAR_075210

Expression for Chorea, Benign Hereditary

Search GEO for disease gene expression data for Chorea, Benign Hereditary.

Pathways for Chorea, Benign Hereditary

Pathways related to Chorea, Benign Hereditary according to KEGG:

36
# Name Kegg Source Accession
1 Thyroid hormone synthesis hsa04918

Pathways related to Chorea, Benign Hereditary according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.2 PDE2A GNAO1 ADCY5
2 11.38 GNAO1 ADCY5
3
Show member pathways
11.32 PDE2A GNAO1 ADCY5
4 11.1 GNAO1 ADCY5
5 10.77 GNAO1 ADCY5

GO Terms for Chorea, Benign Hereditary

Biological processes related to Chorea, Benign Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway GO:0007193 8.96 PDE2A ADCY5
2 locomotory behavior GO:0007626 8.8 NKX2-1 GNAO1 ADCY5

Sources for Chorea, Benign Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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