COACHS
MCID: CCH002
MIFTS: 51

Coach Syndrome (COACHS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Coach Syndrome

MalaCards integrated aliases for Coach Syndrome:

Name: Coach Syndrome 58 54 60 76 38 30 13 6 41 74
Joubert Syndrome with Congenital Hepatic Fibrosis 58 54 60 76
Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis 54 60
Joubert Syndrome with Hepatic Defect 54 60
Gentile Syndrome 54 60
Js-H 54 60
Cerebellar Vermis Hypo/aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis 58
Cerebellar Vermis Hypo/aplasia Oligophrenia Congenital Ataxia Ocular Coloboma and Hepatic Fibrosis 76
Cerebellar Vermis Hypo/aplasia, Oligophrenia, Ataxia Congenital, Coloboma, and Hepatic Fibrosis 54
Coachs 76

Characteristics:

Orphanet epidemiological data:

60
joubert syndrome with hepatic defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
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:

33
coach syndrome:
Onset and clinical course infantile onset
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Coach Syndrome

OMIM : 58 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 ataxia and muscular hypotonia

NIH Rare Diseases : 54 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 : 76 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 : 77 COACH syndrome is a rare recessive genetic disease. The name is an acronym of the defining signs:... more...

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 98)
# Related Disease Score Top Affiliating Genes
1 congenital hepatic fibrosis 29.3 CC2D2A RPGRIP1L TMEM67
2 joubert syndrome 1 28.8 CC2D2A INPP5E RPGRIP1L TMEM67
3 arima syndrome 11.2
4 pulmonary disease, chronic obstructive 10.3
5 diabetes mellitus 10.3
6 autism 10.2
7 body mass index quantitative trait locus 11 10.1
8 body mass index quantitative trait locus 8 10.1
9 body mass index quantitative trait locus 10 10.1
10 body mass index quantitative trait locus 7 10.1
11 body mass index quantitative trait locus 14 10.1
12 body mass index quantitative trait locus 18 10.1
13 body mass index quantitative trait locus 19 10.1
14 eating disorder 10.1
15 asthma 10.1
16 chronic kidney failure 10.1
17 kidney disease 10.1
18 cystic fibrosis 10.0
19 stroke, ischemic 10.0
20 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.0
21 brain injury 10.0
22 traumatic brain injury 10.0
23 autism spectrum disorder 10.0
24 ductal carcinoma in situ 10.0
25 in situ carcinoma 10.0
26 joubert syndrome 6 10.0
27 attention deficit-hyperactivity disorder 9.9
28 parkinson disease, late-onset 9.9
29 coronary heart disease 1 9.9
30 anxiety 9.9
31 pol iii-related leukodystrophies 9.9
32 oppositional defiant disorder 9.9
33 cardiac arrest 9.9
34 borderline personality disorder 9.9
35 heart disease 9.9
36 dementia 9.9
37 disease of mental health 9.9
38 personality disorder 9.9
39 substance abuse 9.9
40 subacute delirium 9.9
41 learning disability 9.9
42 rere-related disorders 9.9
43 spinocerebellar degeneration 9.9
44 encephalocele 9.9 CC2D2A TMEM67
45 senior-loken syndrome 1 9.8 CC2D2A TMEM67
46 cholestasis 9.8
47 pulmonary embolism 9.8
48 oligohydramnios 9.8 CC2D2A TMEM67
49 arteries, anomalies of 9.8
50 blood group, colton system 9.8

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



Diseases related to Coach Syndrome

Symptoms & Phenotypes for Coach Syndrome

Human phenotypes related to Coach Syndrome:

60 33 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
4 elevated hepatic transaminase 60 33 hallmark (90%) Very frequent (99-80%) HP:0002910
5 apnea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002104
6 aplasia/hypoplasia of the cerebellum 60 33 hallmark (90%) Very frequent (99-80%) HP:0007360
7 intellectual disability, moderate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002342
8 congenital hepatic fibrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002612
9 oculomotor apraxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000657
10 cerebellar vermis hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001320
11 intrahepatic biliary atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005248
12 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
13 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
14 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
15 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505
16 feeding difficulties in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0008872
17 nephropathy 60 33 frequent (33%) Frequent (79-30%) HP:0000112
18 biparietal narrowing 60 33 frequent (33%) Frequent (79-30%) HP:0004422
19 chorioretinal coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000567
20 long face 60 33 frequent (33%) Frequent (79-30%) HP:0000276
21 iris coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000612
22 optic nerve coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000588
23 macrocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000256
24 low-set ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000369
25 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
26 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
27 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
28 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
29 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
30 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
31 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
32 anteverted nares 60 33 occasional (7.5%) Occasional (29-5%) HP:0000463
33 renal insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0000083
34 portal hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0001409
35 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
36 cirrhosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001394
37 abnormality of neuronal migration 60 33 occasional (7.5%) Occasional (29-5%) HP:0002269
38 prominent nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000426
39 multicystic kidney dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000003
40 highly arched eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0002553
41 aplasia/hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007370
42 postaxial hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001162
43 oral cleft 60 33 occasional (7.5%) Occasional (29-5%) HP:0000202
44 abnormality of the hypothalamus-pituitary axis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000864
45 chronic hepatic failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0100626
46 neoplasm of the liver 60 33 occasional (7.5%) Occasional (29-5%) HP:0002896
47 occipital encephalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0002085
48 hypertelorism 33 HP:0000316
49 hypertension 33 HP:0000822
50 spasticity 33 HP:0001257

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Coach Syndrome:


ataxia

MGI Mouse Phenotypes related to Coach Syndrome:

47
# 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

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 Recruiting NCT00068224

Search NIH Clinical Center for Coach Syndrome

Genetic Tests for Coach Syndrome

Genetic tests related to Coach Syndrome:

# Genetic test Affiliating Genes
1 Coach Syndrome 30 CC2D2A RPGRIP1L TMEM67

Anatomical Context for Coach Syndrome

MalaCards organs/tissues related to Coach Syndrome:

42
Liver, Eye, Brain, Kidney, Heart, Cerebellum, Hypothalamus

Publications for Coach Syndrome

Articles related to Coach Syndrome:

(show all 23)
# Title Authors Year
1
Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. ( 28860541 )
2017
2
Coach syndrome: the first case from Turkey. ( 25698282 )
2015
3
Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome. ( 26075130 )
2015
4
Dealing with congenital hepatic fibrosis? Remember COACH syndrome. ( 26183508 )
2014
5
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. ( 22246503 )
2012
6
COACH syndrome: an unusual cause of neonatal cholestasis. ( 21237470 )
2011
7
Pulmonary embolism after long duration rail travel: economy class syndrome or rail coach syndrome. ( 22315757 )
2011
8
Clinical utility gene card for: Joubert syndrome. ( 21448235 )
2011
9
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. ( 21633164 )
2011
10
Clinical utility gene card for: Meckel syndrome. ( 21368913 )
2011
11
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). ( 19574260 )
2010
12
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. ( 19058225 )
2009
13
The first Japanese case of COACH syndrome. ( 19261004 )
2009
14
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). ( 19508969 )
2009
15
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. ( 17160906 )
2007
16
Successful combined liver and kidney transplant for COACH syndrome and 5-yr follow-up. ( 16313315 )
2005
17
Early detection of severe cholestatic hepatopathy in COACH syndrome. ( 12210305 )
2002
18
COACH syndrome associated with multifocal liver tumors. ( 12385458 )
2002
19
Hepatic insufficiency and liver transplantation in a patient with COACH syndrome. ( 12390436 )
2002
20
Imaging findings in COACH syndrome. ( 9530063 )
1998
21
Renal insufficiency is a component of COACH syndrome. ( 8669436 )
1996
22
COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation. ( 8862632 )
1996
23
Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. ( 2929661 )
1989

Variations for Coach Syndrome

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

76 (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 rs149049603

ClinVar genetic disease variations for Coach Syndrome:

6 (show top 50) (show all 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 CC2D2A NM_001080522.2(CC2D2A): c.3145C> T (p.Arg1049Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833750 GRCh37 Chromosome 4, 15565108: 15565108
2 CC2D2A NM_001080522.2(CC2D2A): c.3145C> T (p.Arg1049Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833750 GRCh38 Chromosome 4, 15563485: 15563485
3 CC2D2A NM_001080522.2(CC2D2A): c.3347C> T (p.Thr1116Met) single nucleotide variant Conflicting interpretations of pathogenicity rs267606709 GRCh37 Chromosome 4, 15569358: 15569358
4 CC2D2A NM_001080522.2(CC2D2A): c.3347C> T (p.Thr1116Met) single nucleotide variant Conflicting interpretations of pathogenicity rs267606709 GRCh38 Chromosome 4, 15567735: 15567735
5 RPGRIP1L NM_001127897.3(RPGRIP1L): c.2614C> T (p.Gln872Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121918203 GRCh37 Chromosome 16, 53679606: 53679606
6 RPGRIP1L NM_001127897.3(RPGRIP1L): c.2614C> T (p.Gln872Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121918203 GRCh38 Chromosome 16, 53645694: 53645694
7 RPGRIP1L NM_015272.4(RPGRIP1L): c.2050C> T (p.Gln684Ter) single nucleotide variant Pathogenic rs121918204 GRCh37 Chromosome 16, 53686549: 53686549
8 RPGRIP1L NM_015272.4(RPGRIP1L): c.2050C> T (p.Gln684Ter) single nucleotide variant Pathogenic rs121918204 GRCh38 Chromosome 16, 53652637: 53652637
9 RPGRIP1L NM_015272.4(RPGRIP1L): c.2413C> T (p.Arg805Ter) single nucleotide variant Pathogenic rs145665129 GRCh37 Chromosome 16, 53679807: 53679807
10 RPGRIP1L NM_015272.4(RPGRIP1L): c.2413C> T (p.Arg805Ter) single nucleotide variant Pathogenic rs145665129 GRCh38 Chromosome 16, 53645895: 53645895
11 RPGRIP1L NM_015272.4(RPGRIP1L): c.1975T> C (p.Ser659Pro) single nucleotide variant Pathogenic rs267607020 GRCh37 Chromosome 16, 53686624: 53686624
12 RPGRIP1L NM_015272.4(RPGRIP1L): c.1975T> C (p.Ser659Pro) single nucleotide variant Pathogenic rs267607020 GRCh38 Chromosome 16, 53652712: 53652712
13 TMEM67 NM_153704.5(TMEM67): c.1538A> G (p.Tyr513Cys) single nucleotide variant Pathogenic rs137853107 GRCh37 Chromosome 8, 94803510: 94803510
14 TMEM67 NM_153704.5(TMEM67): c.1538A> G (p.Tyr513Cys) single nucleotide variant Pathogenic rs137853107 GRCh38 Chromosome 8, 93791282: 93791282
15 TMEM67 NM_153704.5(TMEM67): c.1961-2A> C single nucleotide variant Pathogenic rs758948621 GRCh38 Chromosome 8, 93797329: 93797329
16 TMEM67 NM_153704.5(TMEM67): c.1961-2A> C single nucleotide variant Pathogenic rs758948621 GRCh37 Chromosome 8, 94809557: 94809557
17 TMEM67 NM_153704.5(TMEM67): c.2498T> C (p.Ile833Thr) single nucleotide variant Pathogenic rs267607119 GRCh37 Chromosome 8, 94821126: 94821126
18 TMEM67 NM_153704.5(TMEM67): c.2498T> C (p.Ile833Thr) single nucleotide variant Pathogenic rs267607119 GRCh38 Chromosome 8, 93808898: 93808898
19 TMEM67 NM_153704.5(TMEM67): c.2556+1G> T single nucleotide variant Pathogenic rs786200867 GRCh37 Chromosome 8, 94821185: 94821185
20 TMEM67 NM_153704.5(TMEM67): c.2556+1G> T single nucleotide variant Pathogenic rs786200867 GRCh38 Chromosome 8, 93808957: 93808957
21 TMEM67 NM_153704.5(TMEM67): c.312+5G> A single nucleotide variant Pathogenic rs786200868 GRCh37 Chromosome 8, 94768099: 94768099
22 TMEM67 NM_153704.5(TMEM67): c.312+5G> A single nucleotide variant Pathogenic rs786200868 GRCh38 Chromosome 8, 93755871: 93755871
23 TMEM67 NM_153704.5(TMEM67): c.1769T> C (p.Phe590Ser) single nucleotide variant Pathogenic rs267607115 GRCh37 Chromosome 8, 94807731: 94807731
24 TMEM67 NM_153704.5(TMEM67): c.1769T> C (p.Phe590Ser) single nucleotide variant Pathogenic rs267607115 GRCh38 Chromosome 8, 93795503: 93795503
25 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
26 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh38 Chromosome 8, 93795970: 93795970
27 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh37 Chromosome 8, 94793953: 94793953
28 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh38 Chromosome 8, 93781725: 93781725
29 CC2D2A NM_001080522.2(CC2D2A): c.2804G> A (p.Arg935Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs187003641 GRCh37 Chromosome 4, 15559105: 15559105
30 CC2D2A NM_001080522.2(CC2D2A): c.2804G> A (p.Arg935Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs187003641 GRCh38 Chromosome 4, 15557482: 15557482
31 RPGRIP1L NM_015272.2(RPGRIP1L): c.1156A> G (p.Lys386Glu) single nucleotide variant Uncertain significance rs137982921 GRCh37 Chromosome 16, 53698869: 53698869
32 RPGRIP1L NM_015272.2(RPGRIP1L): c.1156A> G (p.Lys386Glu) single nucleotide variant Uncertain significance rs137982921 GRCh38 Chromosome 16, 53664957: 53664957
33 CC2D2A NM_001080522.2(CC2D2A): c.1837G> A (p.Glu613Lys) single nucleotide variant Uncertain significance rs201439617 GRCh37 Chromosome 4, 15539594: 15539594
34 CC2D2A NM_001080522.2(CC2D2A): c.1837G> A (p.Glu613Lys) single nucleotide variant Uncertain significance rs201439617 GRCh38 Chromosome 4, 15537971: 15537971
35 CC2D2A NM_001080522.2(CC2D2A): c.2683C> T (p.Gln895Ter) single nucleotide variant Pathogenic rs764719093 GRCh38 Chromosome 4, 15557361: 15557361
36 CC2D2A NM_001080522.2(CC2D2A): c.2683C> T (p.Gln895Ter) single nucleotide variant Pathogenic rs764719093 GRCh37 Chromosome 4, 15558984: 15558984
37 CC2D2A NM_001080522.2(CC2D2A): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs781252161 GRCh37 Chromosome 4, 15534907: 15534907
38 CC2D2A NM_001080522.2(CC2D2A): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs781252161 GRCh38 Chromosome 4, 15533284: 15533284
39 CC2D2A NM_001080522.2(CC2D2A): c.3055C> T (p.Arg1019Ter) single nucleotide variant Pathogenic rs370880399 GRCh37 Chromosome 4, 15565018: 15565018
40 CC2D2A NM_001080522.2(CC2D2A): c.3055C> T (p.Arg1019Ter) single nucleotide variant Pathogenic rs370880399 GRCh38 Chromosome 4, 15563395: 15563395
41 TMEM67 NM_153704.5(TMEM67): c.1115C> A (p.Thr372Lys) single nucleotide variant Pathogenic/Likely pathogenic rs863225235 GRCh38 Chromosome 8, 93782444: 93782444
42 TMEM67 NM_153704.5(TMEM67): c.1115C> A (p.Thr372Lys) single nucleotide variant Pathogenic/Likely pathogenic rs863225235 GRCh37 Chromosome 8, 94794672: 94794672
43 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh38 Chromosome 8, 93786255: 93786255
44 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh37 Chromosome 8, 94798483: 94798483
45 TMEM67 NM_001142301.1(TMEM67): c.1110delA (p.Glu371Lysfs) deletion Likely pathogenic rs749435317 GRCh38 Chromosome 8, 93786287: 93786287
46 TMEM67 NM_001142301.1(TMEM67): c.1110delA (p.Glu371Lysfs) deletion Likely pathogenic rs749435317 GRCh37 Chromosome 8, 94798515: 94798515
47 RPGRIP1L NM_001127897.3(RPGRIP1L): c.3466C> T (p.Arg1156Cys) single nucleotide variant Uncertain significance rs151332923 GRCh37 Chromosome 16, 53639522: 53639522
48 RPGRIP1L NM_001127897.3(RPGRIP1L): c.3466C> T (p.Arg1156Cys) single nucleotide variant Uncertain significance rs151332923 GRCh38 Chromosome 16, 53605610: 53605610
49 CC2D2A NM_001080522.2(CC2D2A): c.2326G> A (p.Gly776Arg) single nucleotide variant Uncertain significance rs200764366 GRCh37 Chromosome 4, 15552591: 15552591
50 CC2D2A NM_001080522.2(CC2D2A): c.2326G> A (p.Gly776Arg) single nucleotide variant Uncertain significance rs200764366 GRCh38 Chromosome 4, 15550968: 15550968

Expression for Coach Syndrome

Search GEO for disease gene expression data for Coach Syndrome.

Pathways for Coach Syndrome

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 for Coach Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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