Cerebellar Ataxia, Nonprogressive, with Mental Retardation disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CANPMR MCID: CRB139 MIFTS: 37	Cerebellar Ataxia, Nonprogressive, with Mental Retardation (CANPMR) Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

MalaCards integrated aliases for Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Name: Cerebellar Ataxia, Nonprogressive, with Mental Retardation ⁵⁷ ²⁹ ¹³ ⁶ ⁷⁰

Nonprogressive Cerebellar Ataxia with Mental Retardation ¹² ³⁶ ¹⁵

Canpmr ⁵⁷ ⁷²

Non-Progressive Cerebellar Ataxia with Intellectual Disability ⁵⁸

Cerebellar Ataxia, Non-Progressive, with Mental Retardation ⁷²

Ataxia, Cerebellar, Nonprogressive, with Mental Retardation ³⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

non-progressive cerebellar ataxia with intellectual disability
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal dominant

Miscellaneous:
dysmorphic facial features are variable
ataxia is nonprogressive

HPO:

³¹

cerebellar ataxia, nonprogressive, with mental retardation:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Congenital nonprogressive ataxia

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0050998

OMIM® ⁵⁷ 614756

KEGG ³⁶ H02273

MeSH ⁴⁴ D002524 D008607

ICD10 via Orphanet ³³ G11.0

Orphanet ⁵⁸ ORPHA314647

MedGen ⁴¹ C3553661 CN142515

UMLS ⁷⁰ C3553661

Sources

Summaries for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

OMIM® : ⁵⁷ Nonprogressive cerebellar ataxia with mental retardation is an autosomal dominant neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable (summary by Thevenon et al., 2012). (614756) (Updated 20-May-2021)

MalaCards based summary : Cerebellar Ataxia, Nonprogressive, with Mental Retardation, also known as nonprogressive cerebellar ataxia with mental retardation, is related to chromosome 1p36 deletion syndrome and strabismus, and has symptoms including ataxia An important gene associated with Cerebellar Ataxia, Nonprogressive, with Mental Retardation is CAMTA1 (Calmodulin Binding Transcription Activator 1), and among its related pathways/superpathways are PKMTs methylate histone lysines and Lysine degradation. Affiliated tissues include eye and brain, and related phenotypes are global developmental delay and intellectual disability, mild

Disease Ontology : ¹² An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has material basis in autosomal dominant inheritance of mutation in the CAMTA1 gene.

KEGG : ³⁶ Nonprogressive cerebellar ataxia with mental retardation (CANPMR) is an autosomal dominant disorder with variable combination of mild dysmorphism, intellectual disability, developmental delay, behavioral problems and cerebellar abnormalities. Heterozygous deletions in the CAMTA1 gene were recently reported in CANPMR patients.

UniProtKB/Swiss-Prot : ⁷² Cerebellar ataxia, non-progressive, with mental retardation: A neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable.

Sources

Related Diseases for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Diseases related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	chromosome 1p36 deletion syndrome	10.0	PRDM16 CAMTA1
2	strabismus	9.9
3	ataxia and polyneuropathy, adult-onset	9.9
4	brain malformations with or without urinary tract defects	9.9
5	mechanical strabismus	9.9
6	hypotonia	9.9
7	tremor	9.9
8	cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	9.8	WDR81 VLDLR
9	donnai-barrow syndrome	9.8	VLDLR CWF19L1
10	cerebellar hypoplasia	9.6	WDR81 VLDLR
11	galloway-mowat syndrome	9.6	ZNF592 WDR81
12	autosomal recessive cerebellar ataxia	9.4	ZNF592 VLDLR CWF19L1

Graphical network of the top 20 diseases related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Sources

Symptoms & Phenotypes for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Human phenotypes related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

⁵⁸ ³¹ (show all 50)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	global developmental delay ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001263
2	intellectual disability, mild ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001256
3	dysarthria ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001260
4	constipation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002019
5	delayed speech and language development ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000750
6	anteverted nares ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000463
7	neonatal hypotonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001319
8	thick lower lip vermilion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000179
9	strabismus ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%)	HP:0000486
10	long face ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000276
11	long philtrum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000343
12	deeply set eye ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000490
13	bulbous nose ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000414
14	pointed chin ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000307
15	dysmetria ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001310
16	abnormal social behavior ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012433
17	memory impairment ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002354
18	cerebellar hypoplasia ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%)	HP:0001321
19	wide nose ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000445
20	abnormal cortical gyration ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002536
21	autistic behavior ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000729
22	aggressive behavior ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000718
23	unsteady gait ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002317
24	nonprogressive cerebellar ataxia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002470
25	focal myoclonic seizure ³¹	frequent (33%)		HP:0011166
26	palpebral edema ⁵⁸ ³¹	occasional (7.5%)	Very rare (<4-1%)	HP:0100540
27	narrow mouth ⁵⁸ ³¹	occasional (7.5%)	Very rare (<4-1%)	HP:0000160
28	large forehead ⁵⁸ ³¹	occasional (7.5%)	Very rare (<4-1%)	HP:0002003
29	short ear ⁵⁸ ³¹	occasional (7.5%)	Very rare (<4-1%)	HP:0400005
30	macrocephaly ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000256
31	abnormal pyramidal sign ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0007256
32	cerebral cortical atrophy ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002120
33	intention tremor ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0002080
34	brisk reflexes ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001348
35	mesiodens ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0011067
36	hypoplastic hippocampus ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0025517
37	nystagmus ⁵⁸		Excluded (0%)
38	ataxia ⁵⁸		Frequent (79-30%)
39	hypertelorism ³¹			HP:0000316
40	gastroesophageal reflux ³¹			HP:0002020
41	low-set ears ³¹			HP:0000369
42	downslanted palpebral fissures ³¹			HP:0000494
43	protruding ear ³¹			HP:0000411
44	broad forehead ³¹			HP:0000337
45	positive romberg sign ⁵⁸		Excluded (0%)
46	hyperactivity ³¹			HP:0000752
47	poor motor coordination ³¹			HP:0002275
48	segmental myoclonic seizures ⁵⁸		Frequent (79-30%)
49	hippocampal atrophy ³¹			HP:0410170
50	seizure ³¹			HP:0001250

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Neurologic Central Nervous System:
intellectual disability
ataxia
dysarthria
cerebellar hypoplasia
unsteady gait
more

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
strabismus (in some patients)
palpebral edema (in 1 family)

Head And Neck Face:
long face
long philtrum
pointed chin

Head And Neck Nose:
bulbous nose
anteverted nostrils
wide flat nose

Head And Neck Mouth:
small mouth
thick lower lip

Head And Neck Teeth:
abnormally implanted teeth (in 1 family)

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux

Head And Neck Ears:
low-set ears
prominent ears
short ears

Head And Neck Head:
large forehead
broad forehead

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
hyperactivity
behavioral difficulties (in some patients)
attention-deficit

Muscle Soft Tissue:
hypotonia, neonatal

Clinical features from OMIM®:

614756 (Updated 20-May-2021)

UMLS symptoms related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

ataxia

Sources

Drugs & Therapeutics for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Sources

Genetic Tests for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Genetic tests related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

#	Genetic test	Affiliating Genes
1	Cerebellar Ataxia, Nonprogressive, with Mental Retardation ²⁹	CAMTA1

Sources

Anatomical Context for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

MalaCards organs/tissues related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

⁴⁰

Eye, Brain

Sources

Publications for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Articles related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

#	Title	Authors	PMID	Year
1	Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes. ⁶ ⁵⁷	Shinawi M...Al-Kateb H	24738973	2015
2	Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. ⁵⁷ ⁶	Thevenon J...Thauvin-Robinet C	22693284	2012
3	A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. ⁶¹	Ali BR...Al-Gazali L	22973972	2012
4	Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). ⁶¹	Boycott KM...Parboosingh JS	19332571	2009

Sources

Genes for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Genes related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CAMTA1	Calmodulin Binding Transcription Activator 1	Protein Coding	1390.15	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	22693284
2	NID1	Nidogen 1	Protein Coding	7.68	GeneCards inferred via : Variants (show sections)
3	PRDM16	PR/SET Domain 16	Protein Coding	7.68	GeneCards inferred via : Variants (show sections)
4	SMYD3	SET And MYND Domain Containing 3	Protein Coding	7.68	GeneCards inferred via : Variants (show sections)
5	VLDLR	Very Low Density Lipoprotein Receptor	Protein Coding	7.14	DISEASES inferred ¹⁵
6	CWF19L1	CWF19 Like Cell Cycle Control Factor 1	Protein Coding	6.97	DISEASES inferred ¹⁵
7	ZNF592	Zinc Finger Protein 592	Protein Coding	6.65	DISEASES inferred ¹⁵
8	WDR81	WD Repeat Domain 81	Protein Coding	6.59	DISEASES inferred ¹⁵

Sources

Variations for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

ClinVar genetic disease variations for Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

⁶ (show all 40)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CAMTA1	CAMTA1, 81-KB DEL, EX4	Deletion	Pathogenic	37006		GRCh37: GRCh38:
2	CAMTA1	CAMTA1, 539-KB DUP, EX3-5	Duplication	Pathogenic	37007		GRCh37: GRCh38:
3	CAMTA1	CAMTA1, 49-KB DEL, EX2-3	Deletion	Pathogenic	37008		GRCh37: GRCh38:
4	CAMTA1	NM_015215.4(CAMTA1):c.2639G>A (p.Trp880Ter)	SNV	Pathogenic	801430	rs1576691273	GRCh37: 1:7725246-7725246 GRCh38: 1:7665186-7665186
5	CAMTA1	NM_015215.4(CAMTA1):c.4049_4051delinsGTGCTGC (p.Pro1350fs)	Indel	Pathogenic	973263		GRCh37: 1:7798409-7798411 GRCh38: 1:7738349-7738351
6	CAMTA1	NM_015215.4(CAMTA1):c.3585_3592del (p.Trp1197fs)	Deletion	Pathogenic	976737		GRCh37: 1:7797553-7797560 GRCh38: 1:7737493-7737500
7	CAMTA1	NM_015215.4(CAMTA1):c.249_252del (p.Ala82_Tyr83insTer)	Deletion	Pathogenic	982402		GRCh37: 1:7151375-7151378 GRCh38: 1:7091315-7091318
8	CAMTA1	NM_015215.4(CAMTA1):c.1455dup (p.Asp486fs)	Duplication	Pathogenic	984639		GRCh37: 1:7724058-7724059 GRCh38: 1:7663998-7663999
9	CAMTA1	NM_015215.4(CAMTA1):c.511-18459_511-15460del	Deletion	Pathogenic	599309		GRCh37: 1:7682001-7685000 GRCh38: 1:7621941-7624940
10	CAMTA1	NM_015215.4(CAMTA1):c.3230A>G (p.Tyr1077Cys)	SNV	Likely pathogenic	216897	rs863224853	GRCh37: 1:7796567-7796567 GRCh38: 1:7736507-7736507
11	CAMTA1	NM_015215.4(CAMTA1):c.4674C>G (p.Tyr1558Ter)	SNV	Likely pathogenic	1029369		GRCh37: 1:7807826-7807826 GRCh38: 1:7747766-7747766
12	CAMTA1	NM_015215.4(CAMTA1):c.2460C>A (p.Cys820Ter)	SNV	Likely pathogenic	988757		GRCh37: 1:7725067-7725067 GRCh38: 1:7665007-7665007
13	CAMTA1	NM_015215.4(CAMTA1):c.2863C>T (p.Arg955Trp)	SNV	Likely pathogenic	431151	rs1135401818	GRCh37: 1:7737742-7737742 GRCh38: 1:7677682-7677682
14	CAMTA1	NM_015215.4(CAMTA1):c.800del (p.Ser267fs)	Deletion	Likely pathogenic	559860	rs1553238311	GRCh37: 1:7721921-7721921 GRCh38: 1:7661861-7661861
15	CAMTA1	NM_015215.4(CAMTA1):c.229A>G (p.Asn77Asp)	SNV	Uncertain significance	560237	rs1557636777	GRCh37: 1:6885265-6885265 GRCh38: 1:6825205-6825205
16	CAMTA1	NM_015215.4(CAMTA1):c.2974G>A (p.Glu992Lys)	SNV	Uncertain significance	634497	rs774307423	GRCh37: 1:7792567-7792567 GRCh38: 1:7732507-7732507
17	CAMTA1	NM_015215.4(CAMTA1):c.3356C>T (p.Ala1119Val)	SNV	Uncertain significance	690391	rs1577305812	GRCh37: 1:7797328-7797328 GRCh38: 1:7737268-7737268
18	CAMTA1	NM_015215.4(CAMTA1):c.154T>A (p.Phe52Ile)	SNV	Uncertain significance	252997	rs879255532	GRCh37: 1:6885190-6885190 GRCh38: 1:6825130-6825130
19	CAMTA1	NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter)	SNV	Uncertain significance	981615		GRCh37: 1:7807773-7807773 GRCh38: 1:7747713-7747713
20	CAMTA1	NM_015215.4(CAMTA1):c.2473A>G (p.Ser825Gly)	SNV	Uncertain significance	930676		GRCh37: 1:7725080-7725080 GRCh38: 1:7665020-7665020
21	CAMTA1	NM_015215.4(CAMTA1):c.2227G>A (p.Gly743Arg)	SNV	Uncertain significance	930871		GRCh37: 1:7724834-7724834 GRCh38: 1:7664774-7664774
22	CAMTA1	NM_015215.4(CAMTA1):c.851G>A (p.Arg284His)	SNV	Uncertain significance	931080		GRCh37: 1:7723458-7723458 GRCh38: 1:7663398-7663398
23	overlap with 13 genes		Deletion	Uncertain significance	599310		GRCh37: 1:12030001-12898000 GRCh38:
24	SLC9A1		Deletion	Uncertain significance	599312		GRCh37: 1:27415001-27452000 GRCh38:
25	PRDM16	NM_022114.4(PRDM16):c.439-11715_439-4716del	Deletion	Uncertain significance	599308		GRCh37: 1:3289999-3296998 GRCh38: 1:3373435-3380434
26	NID1	NM_002508.3(NID1):c.2129-2427_2405-658del	Deletion	Uncertain significance	599313		GRCh37: 1:236176001-236183000 GRCh38: 1:236012701-236019700
27	CAMTA1	NM_015215.4(CAMTA1):c.1187G>A (p.Ser396Asn)	SNV	Uncertain significance	1029365		GRCh37: 1:7723794-7723794 GRCh38: 1:7663734-7663734
28	CAMTA1	NM_015215.4(CAMTA1):c.2470T>C (p.Cys824Arg)	SNV	Uncertain significance	1029366		GRCh37: 1:7725077-7725077 GRCh38: 1:7665017-7665017
29	CAMTA1	NM_015215.4(CAMTA1):c.2810T>C (p.Val937Ala)	SNV	Uncertain significance	1029367		GRCh37: 1:7737689-7737689 GRCh38: 1:7677629-7677629
30	CAMTA1	NM_015215.4(CAMTA1):c.3892C>T (p.Arg1298Trp)	SNV	Uncertain significance	1029368		GRCh37: 1:7798252-7798252 GRCh38: 1:7738192-7738192
31	CAMTA1	NM_015215.4(CAMTA1):c.718G>A (p.Val240Met)	SNV	Uncertain significance	1029370		GRCh37: 1:7721839-7721839 GRCh38: 1:7661779-7661779
32	CAMTA1	NM_015215.4(CAMTA1):c.1559G>A (p.Arg520Gln)	SNV	Uncertain significance	1031885		GRCh37: 1:7724166-7724166 GRCh38: 1:7664106-7664106
33	CAMTA1	NM_015215.4(CAMTA1):c.4977G>T (p.Arg1659Ser)	SNV	Uncertain significance	1031886		GRCh37: 1:7815716-7815716 GRCh38: 1:7755656-7755656
34	CAMTA1	NM_015215.4(CAMTA1):c.940G>A (p.Glu314Lys)	SNV	Uncertain significance	1031887		GRCh37: 1:7723547-7723547 GRCh38: 1:7663487-7663487
35	SMYD3	NM_001167740.2(SMYD3):c.814-5812_814-3813del	Deletion	Uncertain significance	599314		GRCh37: 1:246031001-246033000 GRCh38: 1:245867699-245869698
36	CAMTA1	NM_015215.4(CAMTA1):c.511-22_511-19del	Deletion	Uncertain significance	932045		GRCh37: 1:7700437-7700440 GRCh38: 1:7640377-7640380
37	CAMTA1	NM_015215.4(CAMTA1):c.4453G>A (p.Glu1485Lys)	SNV	Likely benign	930634		GRCh37: 1:7805987-7805987 GRCh38: 1:7745927-7745927
38	CAMTA1	NM_015215.4(CAMTA1):c.806-11G>A	SNV	Likely benign	931279		GRCh37: 1:7723402-7723402 GRCh38: 1:7663342-7663342
39	CAMTA1	NM_015215.4(CAMTA1):c.4007C>T (p.Thr1336Ile)	SNV	Likely benign	784438	rs137974312	GRCh37: 1:7798367-7798367 GRCh38: 1:7738307-7738307
40	CAMTA1	NM_015215.4(CAMTA1):c.423G>C (p.Lys141Asn)	SNV	not provided	973014		GRCh37: 1:7309671-7309671 GRCh38: 1:7249611-7249611

Sources

Expression for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Search GEO for disease gene expression data for Cerebellar Ataxia, Nonprogressive, with Mental Retardation.

Sources

Pathways for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Pathways related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	PKMTs methylate histone lysines ⁶⁵ Show member pathways Histone Modifications ¹	11.11	SMYD3 PRDM16
2	Lysine degradation ³⁶	10.42	SMYD3 PRDM16

Sources

GO Terms for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Molecular functions related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription coregulator activity	GO:0003712	8.62	PRDM16 CAMTA1

Sources

Sources for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Cerebellar Ataxia, Nonprogressive, with Mental Retardation (CANPMR)

Aliases & Classifications for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

MalaCards integrated aliases for Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Related Diseases for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Diseases related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Symptoms & Phenotypes for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Human phenotypes related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Drugs & Therapeutics for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Genetic Tests for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Genetic tests related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Anatomical Context for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

MalaCards organs/tissues related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Publications for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Articles related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Genes for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Genes related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation (1 elite genes):

Variations for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

ClinVar genetic disease variations for Cerebellar Ataxia, Nonprogressive, with Mental Retardation:

Expression for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Pathways for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Pathways related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation according to GeneCards Suite gene sharing:

GO Terms for Cerebellar Ataxia, Nonprogressive, with Mental Retardation

Molecular functions related to Cerebellar Ataxia, Nonprogressive, with Mental Retardation according to GeneCards Suite gene sharing:

Sources for Cerebellar Ataxia, Nonprogressive, with Mental Retardation