Coach Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

COACHS MCID: CCH002 MIFTS: 51	Coach Syndrome (COACHS) Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Coach Syndrome

MalaCards integrated aliases for Coach Syndrome:

Name: Coach Syndrome ⁵⁷ ⁵³ ⁵⁹ ⁷⁵ ³⁷ ²⁹ ¹³ ⁶ ⁴⁰ ⁷³

Joubert Syndrome with Congenital Hepatic Fibrosis ⁵⁷ ⁵³ ⁵⁹ ⁷⁵

Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis ⁵³ ⁵⁹

Joubert Syndrome with Hepatic Defect ⁵³ ⁵⁹

Gentile Syndrome ⁵³ ⁵⁹

Js-H ⁵³ ⁵⁹

Cerebellar Vermis Hypo/aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis ⁵⁷

Cerebellar Vermis Hypo/aplasia Oligophrenia Congenital Ataxia Ocular Coloboma and Hepatic Fibrosis ⁷⁵

Cerebellar Vermis Hypo/aplasia, Oligophrenia, Ataxia Congenital, Coloboma, and Hepatic Fibrosis ⁵³

Coachs ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

joubert syndrome with hepatic defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
genetic heterogeneity
liver involvement can range from mild to severe
renal involvement and coloboma may not be present
considered to be part of the spectrum of joubert syndrome and meckel syndrome

HPO:

³²

coach syndrome:
Onset and clinical course infantile onset
Inheritance heterogeneous autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Liver diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

Other congenital malformations of brain

Other reduction deformities of brain

Orphanet: ⁵⁹

Rare neurological diseases

Rare eye diseases

Rare hepatic diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 216360

Orphanet ⁵⁹ ORPHA1454

UMLS via Orphanet ⁷⁴ C1857662

ICD10 via Orphanet ³⁴ Q04.3

MedGen ⁴² C1857662

MeSH ⁴⁴ D001259 D002526 D003103 more

KEGG ³⁷ H01001

SNOMED-CT via HPO ⁶⁹ 204962002 82525005 258211005 more

UMLS ⁷³ C1857662

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Summaries for Coach Syndrome

OMIM : ⁵⁷ COACH syndrome is an autosomal recessive disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Other features, such as coloboma and renal cysts, may be variable. COACH syndrome is considered by some to be a subtype of Joubert syndrome (JBTS; see 213300) with congenital hepatic fibrosis. Identification of liver disease in these patients is critical because some may develop complications such as portal hypertension with fatal variceal bleeding (Brancati et al., 2009; Doherty et al., 2010). (216360)

MalaCards based summary : Coach Syndrome, also known as joubert syndrome with congenital hepatic fibrosis, is related to congenital hepatic fibrosis and joubert syndrome 1, and has symptoms including ataxia An important gene associated with Coach Syndrome is TMEM67 (Transmembrane Protein 67), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include liver, eye and brain, and related phenotypes are macrocephaly and low-set ears

NIH Rare Diseases : ⁵³ COACH syndromeis a condition that mainly affects the brain and liver. Most individuals with COACH syndrome have mental retardation, liver problems (fibrosis), and difficulty with movement (ataxia). Some may also have an abnormality of the eye (called a coloboma) or abnormal eye movements (such as nystagmus). This condition is inherited in an autosomal recessive manner; 70% of cases are thought to be caused by mutations in the TMEM67 gene. COACH syndrome is considered a rare form of another condition, Joubert syndrome.

UniProtKB/Swiss-Prot : ⁷⁵ COACH syndrome: A disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable.

Wikipedia : ⁷⁶ COACH syndrome is a rare recessive genetic disease. The name is an acronym of the defining signs:... more...

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Related Diseases for Coach Syndrome

Diseases related to Coach Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)

#	Related Disease	Score	Top Affiliating Genes
1	congenital hepatic fibrosis	29.6	CC2D2A RPGRIP1L TMEM67
2	joubert syndrome 1	29.3	CC2D2A INPP5E RPGRIP1L TMEM67
3	arima syndrome	11.1
4	diabetes mellitus	10.1
5	autism	10.1
6	pulmonary disease, chronic obstructive	10.0
7	diabetes mellitus, noninsulin-dependent	9.9
8	oppositional defiant disorder	9.9
9	ductal carcinoma in situ	9.9
10	borderline personality disorder	9.9
11	personality disorder	9.9
12	substance abuse	9.9
13	in situ carcinoma	9.9
14	spinocerebellar degeneration	9.9
15	exercise-induced malignant hyperthermia	9.9
16	encephalocele	9.9	CC2D2A TMEM67
17	senior-loken syndrome 1	9.9	CC2D2A TMEM67
18	oligohydramnios	9.9	CC2D2A TMEM67
19	cystic kidney disease	9.8	CC2D2A TMEM67
20	cholestasis	9.8
21	pulmonary embolism	9.8
22	arteries, anomalies of	9.8
23	breast cancer	9.8
24	multiple sclerosis	9.8
25	huntington disease	9.8
26	attention deficit-hyperactivity disorder	9.8
27	parkinson disease, late-onset	9.8
28	rheumatoid arthritis	9.8
29	cystic fibrosis	9.8
30	diabetes mellitus, insulin-dependent	9.8
31	muscular dystrophy, duchenne type	9.8
32	stroke, ischemic	9.8
33	coronary heart disease 1	9.8
34	alacrima, achalasia, and mental retardation syndrome	9.8
35	metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	9.8
36	global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	9.8
37	arthritis	9.8
38	brain injury	9.8
39	chronic kidney failure	9.8
40	congestive heart failure	9.8
41	hepatitis	9.8
42	spinal cord injury	9.8
43	spinal stenosis	9.8
44	systemic mastocytosis	9.8
45	traumatic brain injury	9.8
46	asperger syndrome	9.8
47	peripheral artery disease	9.8
48	autism spectrum disorder	9.8
49	cardiac arrest	9.8
50	dissociative disorder	9.8

Graphical network of the top 20 diseases related to Coach Syndrome:

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Symptoms & Phenotypes for Coach Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
hypertelorism
nystagmus
oculomotor apraxia
ocular coloboma

Abdomen Spleen:
splenomegaly

Genitourinary Kidneys:
nephronophthisis
renal failure
medullary cystic renal disease

Laboratory Abnormalities:
abnormal liver enzymes

Neurologic Central Nervous System:
ataxia
hyperreflexia
cerebellar vermis hypoplasia
hypotonia
mental retardation
more

Abdomen Liver:
hepatomegaly
portal hypertension
cirrhosis
ductal plate malformation
hepatic fibrosis, congenital
more

Growth Other:
poor growth

Respiratory:
abnormal breathing pattern

Clinical features from OMIM:

216360

Human phenotypes related to Coach Syndrome:

⁵⁹ ³² (show top 50) (show all 64)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	macrocephaly ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000256
2	low-set ears ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000369
3	hydrocephalus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000238
4	ptosis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000508
5	nystagmus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000639
6	seizures ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001250
7	ataxia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001251
8	muscular hypotonia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001252
9	gait disturbance ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001288
10	tremor ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001337
11	hyperreflexia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001347
12	scoliosis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002650
13	inguinal hernia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000023
14	splenomegaly ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001744
15	hepatomegaly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002240
16	anteverted nares ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000463
17	visual impairment ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000505
18	feeding difficulties in infancy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0008872
19	renal insufficiency ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000083
20	nephropathy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000112
21	portal hypertension ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001409
22	strabismus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000486
23	biparietal narrowing ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0004422
24	cirrhosis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001394
25	apnea ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002104
26	abnormality of neuronal migration ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002269
27	aplasia/hypoplasia of the cerebellum ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007360
28	prominent nasal bridge ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000426
29	chorioretinal coloboma ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000567
30	intellectual disability, moderate ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002342
31	multicystic kidney dysplasia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000003
32	congenital hepatic fibrosis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002612
33	long face ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000276
34	highly arched eyebrow ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002553
35	iris coloboma ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000612
36	optic nerve coloboma ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000588
37	aplasia/hypoplasia of the corpus callosum ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0007370
38	postaxial hand polydactyly ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001162
39	oral cleft ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000202
40	oculomotor apraxia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000657
41	abnormality of the hypothalamus-pituitary axis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000864
42	cerebellar vermis hypoplasia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001320
43	neoplasm of the liver ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002896
44	occipital encephalocele ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002085
45	chronic hepatic failure ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100626
46	intrahepatic biliary atresia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005248
47	hypertelorism ³²			HP:0000316
48	spasticity ³²			HP:0001257
49	global developmental delay ³²			HP:0001263
50	growth delay ³²			HP:0001510

UMLS symptoms related to Coach Syndrome:

ataxia

MGI Mouse Phenotypes related to Coach Syndrome:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial	MP:0005382	9.71	CC2D2A INPP5E RPGRIP1L TMEM67
2	digestive/alimentary	MP:0005381	9.67	CC2D2A INPP5E RPGRIP1L TMEM67
3	embryo	MP:0005380	9.62	CC2D2A INPP5E RPGRIP1L TMEM67
4	growth/size/body region	MP:0005378	9.56	CC2D2A INPP5E RPGRIP1L TMEM67
5	limbs/digits/tail	MP:0005371	9.46	CC2D2A INPP5E RPGRIP1L TMEM67
6	nervous system	MP:0003631	9.26	CC2D2A INPP5E RPGRIP1L TMEM67
7	renal/urinary system	MP:0005367	8.92	CC2D2A INPP5E RPGRIP1L TMEM67

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Drugs & Therapeutics for Coach Syndrome

Drugs for Coach Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#		Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1		Liver Extracts

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Clinical and Molecular Investigations Into Ciliopathies	Completed	NCT00068224

Search NIH Clinical Center for Coach Syndrome

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Genetic Tests for Coach Syndrome

Genetic tests related to Coach Syndrome:

#	Genetic test	Affiliating Genes
1	Coach Syndrome ²⁹	CC2D2A RPGRIP1L TMEM67

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Anatomical Context for Coach Syndrome

MalaCards organs/tissues related to Coach Syndrome:

⁴¹

Liver, Eye, Brain, Kidney, Cerebellum, Heart, Breast

Sources

Publications for Coach Syndrome

Articles related to Coach Syndrome:

(show all 16)

#	Title	Authors	Year
1	Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. ( 28860541 )	Lee S.H....Choi S.Y.	2017
2	Coach syndrome: the first case from Turkey. ( 25698282 )	Tekin F....Akarca U.S.	2015
3	Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome. ( 26075130 )	Sanjeev R.K....Gleeson J.G.	2015
4	Dealing with congenital hepatic fibrosis? Remember COACH syndrome. ( 26183508 )	Acharyya B.C....Goenka U.	2014
5	COACH syndrome: an unusual cause of neonatal cholestasis. ( 21237470 )	Weiland M.D....Giles H.W.	2011
6	Pulmonary embolism after long duration rail travel: economy class syndrome or rail coach syndrome. ( 22315757 )	Mittal S.K....Calton R.	2011
7	Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). ( 19574260 )		2010
8	MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. ( 19058225 )	Brancati F....Valente E.M.	2009
9	The first Japanese case of COACH syndrome. ( 19261004 )	Mitsui F...Chayama K	2009
10	Successful combined liver and kidney transplant for COACH syndrome and 5-yr follow-up. ( 16313315 )		2005
11	COACH syndrome associated with multifocal liver tumors. ( 12385458 )	Kirchner G.I....Manns M.P.	2002
12	Early detection of severe cholestatic hepatopathy in COACH syndrome. ( 12210305 )	Foell D....Zimmer K.P.	2002
13	Hepatic insufficiency and liver transplantation in a patient with COACH syndrome. ( 12390436 )		2002
14	Imaging findings in COACH syndrome. ( 9530063 )	Barzilai M....Iancu T.C.	1998
15	Renal insufficiency is a component of COACH syndrome. ( 8669436 )	Kumar S....Rankin R.	1996
16	COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation. ( 8862632 )		1996

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Genes for Coach Syndrome

Genes related to Coach Syndrome (4 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TMEM67	Transmembrane Protein 67	Protein Coding	1687.7	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	17160906 19574260 21448235 (more) 19058225 2929661 19508969 21633164 8862632
2	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	1686.02	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	19574260 21448235 21368913 (more) 20301500 22246503
3	RPGRIP1L	RPGRIP1 Like	Protein Coding	1685.57	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	19574260 21448235
4	INPP5E	Inositol Polyphosphate-5-Phosphatase E	Protein Coding	350	Causative germline mutation ⁵⁹

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Variations for Coach Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Coach Syndrome:

⁷⁵ (show all 18)

#	Symbol	AA change	Variation ID	SNP ID
1	CC2D2A	p.Arg1528Cys	VAR_055323	rs118204052
2	CC2D2A	p.Thr1116Met	VAR_063804	rs267606709
3	RPGRIP1L	p.Ser659Pro	VAR_063805	rs267607020
4	TMEM67	p.Tyr513Cys	VAR_031987	rs137853107
5	TMEM67	p.Met252Thr	VAR_062313	rs202149403
6	TMEM67	p.Arg440Gln	VAR_062318	rs386834182
7	TMEM67	p.Cys615Arg	VAR_062319	rs201893408
8	TMEM67	p.Pro130Arg	VAR_063786	rs863225226
9	TMEM67	p.Asn242Thr	VAR_063788
10	TMEM67	p.Leu349Ser	VAR_063790	rs386834180
11	TMEM67	p.Pro358Leu	VAR_063791	rs863225232
12	TMEM67	p.Thr372Lys	VAR_063792	rs863225235
13	TMEM67	p.Phe590Ser	VAR_063796	rs267607115
14	TMEM67	p.Ser728Gly	VAR_063798
15	TMEM67	p.His782Arg	VAR_063799	rs777137476
16	TMEM67	p.Arg820Ser	VAR_063800
17	TMEM67	p.Ile833Thr	VAR_063801	rs267607119
18	TMEM67	p.Gly132Ala	VAR_079632

ClinVar genetic disease variations for Coach Syndrome:

⁶ (show all 32)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CC2D2A	NM_001080522.2(CC2D2A): c.3145C> T (p.Arg1049Ter)	single nucleotide variant	Pathogenic	rs386833750	GRCh37	Chromosome 4, 15565108: 15565108
2	CC2D2A	NM_001080522.2(CC2D2A): c.3145C> T (p.Arg1049Ter)	single nucleotide variant	Pathogenic	rs386833750	GRCh38	Chromosome 4, 15563485: 15563485
3	CC2D2A	NM_001080522.2(CC2D2A): c.3347C> T (p.Thr1116Met)	single nucleotide variant	Pathogenic	rs267606709	GRCh37	Chromosome 4, 15569358: 15569358
4	CC2D2A	NM_001080522.2(CC2D2A): c.3347C> T (p.Thr1116Met)	single nucleotide variant	Pathogenic	rs267606709	GRCh38	Chromosome 4, 15567735: 15567735
5	RPGRIP1L	NM_015272.4(RPGRIP1L): c.2413C> T (p.Arg805Ter)	single nucleotide variant	Pathogenic	rs145665129	GRCh37	Chromosome 16, 53679807: 53679807
6	RPGRIP1L	NM_015272.4(RPGRIP1L): c.2413C> T (p.Arg805Ter)	single nucleotide variant	Pathogenic	rs145665129	GRCh38	Chromosome 16, 53645895: 53645895
7	RPGRIP1L	NM_015272.4(RPGRIP1L): c.1975T> C (p.Ser659Pro)	single nucleotide variant	Pathogenic	rs267607020	GRCh37	Chromosome 16, 53686624: 53686624
8	RPGRIP1L	NM_015272.4(RPGRIP1L): c.1975T> C (p.Ser659Pro)	single nucleotide variant	Pathogenic	rs267607020	GRCh38	Chromosome 16, 53652712: 53652712
9	TMEM67	NM_153704.5(TMEM67): c.1538A> G (p.Tyr513Cys)	single nucleotide variant	Pathogenic	rs137853107	GRCh37	Chromosome 8, 94803510: 94803510
10	TMEM67	NM_153704.5(TMEM67): c.1538A> G (p.Tyr513Cys)	single nucleotide variant	Pathogenic	rs137853107	GRCh38	Chromosome 8, 93791282: 93791282
11	TMEM67	NM_153704.5(TMEM67): c.1961-2A> C	single nucleotide variant	Pathogenic	rs758948621	GRCh38	Chromosome 8, 93797329: 93797329
12	TMEM67	NM_153704.5(TMEM67): c.1961-2A> C	single nucleotide variant	Pathogenic	rs758948621	GRCh37	Chromosome 8, 94809557: 94809557
13	TMEM67	NM_153704.5(TMEM67): c.2498T> C (p.Ile833Thr)	single nucleotide variant	Pathogenic	rs267607119	GRCh37	Chromosome 8, 94821126: 94821126
14	TMEM67	NM_153704.5(TMEM67): c.2498T> C (p.Ile833Thr)	single nucleotide variant	Pathogenic	rs267607119	GRCh38	Chromosome 8, 93808898: 93808898
15	TMEM67	NM_153704.5(TMEM67): c.2556+1G> T	single nucleotide variant	Pathogenic	rs786200867	GRCh37	Chromosome 8, 94821185: 94821185
16	TMEM67	NM_153704.5(TMEM67): c.2556+1G> T	single nucleotide variant	Pathogenic	rs786200867	GRCh38	Chromosome 8, 93808957: 93808957
17	TMEM67	NM_153704.5(TMEM67): c.312+5G> A	single nucleotide variant	Pathogenic	rs786200868	GRCh37	Chromosome 8, 94768099: 94768099
18	TMEM67	NM_153704.5(TMEM67): c.312+5G> A	single nucleotide variant	Pathogenic	rs786200868	GRCh38	Chromosome 8, 93755871: 93755871
19	TMEM67	NM_153704.5(TMEM67): c.1769T> C (p.Phe590Ser)	single nucleotide variant	Pathogenic	rs267607115	GRCh37	Chromosome 8, 94807731: 94807731
20	TMEM67	NM_153704.5(TMEM67): c.1769T> C (p.Phe590Ser)	single nucleotide variant	Pathogenic	rs267607115	GRCh38	Chromosome 8, 93795503: 93795503
21	TMEM67	NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs386834180	GRCh37	Chromosome 8, 94793953: 94793953
22	TMEM67	NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser)	single nucleotide variant	Pathogenic/Likely pathogenic	rs386834180	GRCh38	Chromosome 8, 93781725: 93781725
23	CC2D2A	NM_001080522.2(CC2D2A): c.2804G> A (p.Arg935Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs187003641	GRCh37	Chromosome 4, 15559105: 15559105
24	CC2D2A	NM_001080522.2(CC2D2A): c.2804G> A (p.Arg935Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs187003641	GRCh38	Chromosome 4, 15557482: 15557482
25	TMEM67	NM_001142301.1(TMEM67): c.1110delA (p.Glu371Lysfs)	deletion	Likely pathogenic	rs749435317	GRCh38	Chromosome 8, 93786287: 93786287
26	TMEM67	NM_001142301.1(TMEM67): c.1110delA (p.Glu371Lysfs)	deletion	Likely pathogenic	rs749435317	GRCh37	Chromosome 8, 94798515: 94798515
27	CC2D2A	NM_001080522.2(CC2D2A): c.3652C> T (p.Arg1218Ter)	single nucleotide variant	Pathogenic	rs375278294	GRCh37	Chromosome 4, 15575830: 15575830
28	CC2D2A	NM_001080522.2(CC2D2A): c.3652C> T (p.Arg1218Ter)	single nucleotide variant	Pathogenic	rs375278294	GRCh38	Chromosome 4, 15574207: 15574207
29	TMEM67	NM_153704.5(TMEM67): c.439C> T (p.Gln147Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 8, 94776102: 94776102
30	TMEM67	NM_153704.5(TMEM67): c.439C> T (p.Gln147Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 8, 93763874: 93763874
31	CC2D2A	NM_001080522.2(CC2D2A): c.4483G> T (p.Glu1495Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 4, 15599075: 15599075
32	CC2D2A	NM_001080522.2(CC2D2A): c.4483G> T (p.Glu1495Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 4, 15597452: 15597452

Sources

Expression for Coach Syndrome

Search GEO for disease gene expression data for Coach Syndrome.

Sources

Pathways for Coach Syndrome

Pathways related to Coach Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of PLK1 Activity at G2/M Transition ⁶⁶ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁶ AURKA Activation by TPX2 ⁶⁶ Centrosome maturation ⁶⁶ G2/M Transition ⁶⁶ Interaction between PHLDA1 and AURKA ⁶⁶ Loss of Nlp from mitotic centrosomes ⁶⁶ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁶ Mitotic G2-G2/M phases ⁶⁶ Polo-like kinase mediated events ⁶⁶ Recruitment of mitotic centrosome proteins and complexes ⁶⁶ Recruitment of NuMA to mitotic centrosomes ⁶⁶	12.12	CC2D2A RPGRIP1L TMEM67
2	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	11.65	CC2D2A INPP5E RPGRIP1L TMEM67

Sources

GO Terms for Coach Syndrome

Cellular components related to Coach Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	9.62	CC2D2A INPP5E RPGRIP1L TMEM67
2	cell projection	GO:0042995	9.56	CC2D2A INPP5E RPGRIP1L TMEM67
3	axoneme	GO:0005930	9.37	INPP5E RPGRIP1L
4	cilium	GO:0005929	9.26	CC2D2A INPP5E RPGRIP1L TMEM67
5	MKS complex	GO:0036038	9.16	CC2D2A TMEM67
6	ciliary transition zone	GO:0035869	8.8	CC2D2A RPGRIP1L TMEM67

Biological processes related to Coach Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection organization	GO:0030030	9.37	CC2D2A TMEM67
2	determination of left/right symmetry	GO:0007368	9.32	CC2D2A RPGRIP1L
3	camera-type eye development	GO:0043010	9.26	CC2D2A RPGRIP1L
4	non-motile cilium assembly	GO:1905515	9.16	CC2D2A RPGRIP1L
5	cilium assembly	GO:0060271	9.13	CC2D2A RPGRIP1L TMEM67
6	ciliary basal body-plasma membrane docking	GO:0097711	8.8	CC2D2A RPGRIP1L TMEM67

Sources

Sources for Coach Syndrome

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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Coach Syndrome (COACHS)

Aliases & Classifications for Coach Syndrome

MalaCards integrated aliases for Coach Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Coach Syndrome

Related Diseases for Coach Syndrome

Diseases related to Coach Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Coach Syndrome:

Symptoms & Phenotypes for Coach Syndrome

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Coach Syndrome:

UMLS symptoms related to Coach Syndrome:

MGI Mouse Phenotypes related to Coach Syndrome:

Drugs & Therapeutics for Coach Syndrome

Drugs for Coach Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Coach Syndrome

Genetic tests related to Coach Syndrome:

Anatomical Context for Coach Syndrome

MalaCards organs/tissues related to Coach Syndrome:

Publications for Coach Syndrome

Articles related to Coach Syndrome:

Genes for Coach Syndrome

Genes related to Coach Syndrome (4 elite genes):

Variations for Coach Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Coach Syndrome:

ClinVar genetic disease variations for Coach Syndrome:

Expression for Coach Syndrome

Pathways for Coach Syndrome

Pathways related to Coach Syndrome according to GeneCards Suite gene sharing:

GO Terms for Coach Syndrome

Cellular components related to Coach Syndrome according to GeneCards Suite gene sharing:

Biological processes related to Coach Syndrome according to GeneCards Suite gene sharing:

Sources for Coach Syndrome