COACHS
MCID: CCH002
MIFTS: 50

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 56 12 52 58 73 36 29 13 6 43 39 71
Joubert Syndrome with Congenital Hepatic Fibrosis 56 12 52 58 73
Joubert Syndrome with Hepatic Defect 12 52 58
Gentile Syndrome 12 52 58
Js-H 12 52 58
Cerebellar Vermis Hypo/aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis 56 12
Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis 52 58
Cerebellar Vermis Hypo/aplasia Oligophrenia Congenital Ataxia Ocular Coloboma and Hepatic Fibrosis 73
Cerebellar Vermis Hypo/aplasia, Oligophrenia, Ataxia Congenital, Coloboma, and Hepatic Fibrosis 52
Coachs 73

Characteristics:

Orphanet epidemiological data:

58
joubert syndrome with hepatic defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
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:

31
coach syndrome:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare hepatic diseases
Developmental anomalies during embryogenesis


Summaries for Coach Syndrome

OMIM : 56 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 encephalocele and congenital hepatic fibrosis, 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. Affiliated tissues include liver, eye and brain, and related phenotypes are ataxia and muscular hypotonia

Disease Ontology : 12 A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has material basis in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L).

NIH Rare Diseases : 52 COACH syndrome is 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 .

KEGG : 36 COACH syndrome is a rare autosomal recessive disorder with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. The vermis hypoplasia comprises a part of a spectrum of mid-hindbrain malformation called the 'molar tooth sign' that is characteristic to Joubert syndrome.

UniProtKB/Swiss-Prot : 73 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 : 74 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 257)
# Related Disease Score Top Affiliating Genes
1 encephalocele 29.4 TMEM67 CC2D2A
2 congenital hepatic fibrosis 29.4 TMEM67 RPGRIP1L CC2D2A
3 coloboma of macula 29.3 TMEM67 RPGRIP1L CC2D2A
4 meckel syndrome, type 3 29.1 TMEM67 RPGRIP1L CC2D2A
5 ciliopathy 29.0 TMEM67 RPGRIP1L
6 joubert syndrome 6 28.9 TMEM67 RPGRIP1L CC2D2A
7 fundus dystrophy 28.7 TMEM67 RPGRIP1L INPP5E CC2D2A
8 joubert syndrome 1 28.7 TMEM67 RPGRIP1L INPP5E CC2D2A
9 joubert syndrome 2 28.7 TMEM67 RPGRIP1L CC2D2A
10 apraxia 28.6 TMEM67 RPGRIP1L CC2D2A
11 nephronophthisis 28.5 TMEM67 RPGRIP1L INPP5E CC2D2A
12 meckel syndrome, type 1 28.4 TMEM67 RPGRIP1L CC2D2A
13 arima syndrome 11.6
14 autism 10.5
15 autism spectrum disorder 10.4
16 eating disorder 10.4
17 ataxia and polyneuropathy, adult-onset 10.4
18 pulmonary disease, chronic obstructive 10.4
19 heart disease 10.3
20 congestive heart failure 10.3
21 traumatic brain injury 10.3
22 anxiety 10.3
23 diabetes mellitus 10.3
24 attention deficit-hyperactivity disorder 10.3
25 hutterite cerebroosteonephrodysplasia syndrome 10.3
26 substance abuse 10.3
27 inherited retinal disorder 10.3
28 back pain 10.3
29 head injury 10.3
30 stroke, ischemic 10.2
31 disease of mental health 10.2
32 cerebrovascular disease 10.2
33 asthma 10.2
34 coronary heart disease 1 10.2
35 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.2
36 brain injury 10.2
37 cardiac arrest 10.2
38 periodontal ehlers-danlos syndrome 10.2
39 depression 10.2
40 chronic pain 10.2
41 varicose veins 10.2
42 portal hypertension 10.2
43 body mass index quantitative trait locus 11 10.1
44 body mass index quantitative trait locus 9 10.1
45 body mass index quantitative trait locus 8 10.1
46 body mass index quantitative trait locus 4 10.1
47 body mass index quantitative trait locus 10 10.1
48 body mass index quantitative trait locus 7 10.1
49 major affective disorder 8 10.1
50 body mass index quantitative trait locus 12 10.1

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:

58 31 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
4 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
5 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
6 apnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002104
7 aplasia/hypoplasia of the cerebellum 58 31 hallmark (90%) Very frequent (99-80%) HP:0007360
8 cerebellar vermis hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001320
9 congenital hepatic fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002612
10 oculomotor apraxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000657
11 intrahepatic biliary atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005248
12 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
13 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
14 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
15 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
16 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
17 nephropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000112
18 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
19 chorioretinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000567
20 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
21 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
22 optic nerve coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000588
23 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
24 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
25 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
26 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
27 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
28 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
29 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
30 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
31 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
32 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
33 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
34 portal hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001409
35 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
36 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
37 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
38 abnormality of neuronal migration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002269
39 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
40 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
41 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
42 postaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001162
43 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
44 abnormality of the hypothalamus-pituitary axis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000864
45 chronic hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0100626
46 neoplasm of the liver 58 31 occasional (7.5%) Occasional (29-5%) HP:0002896
47 occipital encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002085
48 hypertelorism 31 HP:0000316
49 spasticity 31 HP:0001257
50 hypertension 31 HP:0000822

Symptoms via clinical synopsis from OMIM:

56
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:
hyperreflexia
ataxia
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.71 CC2D2A INPP5E RPGRIP1L TMEM67
2 craniofacial MP:0005382 9.67 CC2D2A INPP5E RPGRIP1L TMEM67
3 digestive/alimentary MP:0005381 9.62 CC2D2A INPP5E RPGRIP1L TMEM67
4 embryo MP:0005380 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

Search Clinical Trials , NIH Clinical Center for Coach Syndrome

Cochrane evidence based reviews: coach syndrome

Genetic Tests for Coach Syndrome

Genetic tests related to Coach Syndrome:

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

Anatomical Context for Coach Syndrome

MalaCards organs/tissues related to Coach Syndrome:

40
Liver, Eye, Brain, Kidney, Heart, Cerebellum, Hypothalamus

Publications for Coach Syndrome

Articles related to Coach Syndrome:

(show all 35)
# Title Authors PMID Year
1
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 61 56 6
19574260 2010
2
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 61 56 6
19058225 2009
3
COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation. 61 56 6
8862632 1996
4
Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. 56 6
2929661 1989
5
Early detection of severe cholestatic hepatopathy in COACH syndrome. 61 56
12210305 2002
6
Renal insufficiency is a component of COACH syndrome. 61 56
8669436 1996
7
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 6
22246503 2012
8
Clinical utility gene card for: Joubert syndrome. 6
21448235 2011
9
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 6
21633164 2011
10
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 6
19508969 2009
11
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 56
18950740 2008
12
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 6
17160906 2007
13
Familial juvenile nephronophthisis with hepatic fibrosis and neurocutaneous dysplasia. 56
7410112 1980
14
Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. 61
28860541 2017
15
EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT). 61
28726664 2017
16
Hassab's operation for Joubert syndrome with congenital hepatic fibrosis: A case report. 61
28402911 2017
17
Nephronophthisis 61
27336129 2016
18
Coach syndrome: the first case from Turkey. 61
25698282 2015
19
Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome. 61
26075130 2015
20
Unraveling the genetics of Joubert and Meckel-Gruber syndromes. 61
25729630 2014
21
Dealing with congenital hepatic fibrosis? Remember COACH syndrome. 61
26183508 2014
22
Identification of hemostatic genes expressed in human and rat leg muscles and a novel gene (LPP1/PAP2A) suppressed during prolonged physical inactivity (sitting). 61
23061662 2012
23
[Progression of hepatic fibrosis observed by repeated liver biopsies in an adult case of COACH syndrome]. 61
22790627 2012
24
Pulmonary embolism after long duration rail travel: economy class syndrome or rail coach syndrome. 61
22315757 2011
25
COACH syndrome: an unusual cause of neonatal cholestasis. 61
21237470 2011
26
Clinical and molecular features of Joubert syndrome and related disorders. 61
19876931 2009
27
The first Japanese case of COACH syndrome. 61
19261004 2009
28
Successful combined liver and kidney transplant for COACH syndrome and 5-yr follow-up. 61
16313315 2005
29
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. 61
14981712 2004
30
COACH syndrome associated with multifocal liver tumors. 61
12385458 2002
31
Hepatic insufficiency and liver transplantation in a patient with COACH syndrome. 61
12390436 2002
32
Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases. 61
12368986 2002
33
Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. 61
10508989 1999
34
Imaging findings in COACH syndrome. 61
9530063 1998
35
Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders. 61
7538263 1994

Variations for Coach Syndrome

ClinVar genetic disease variations for Coach Syndrome:

6 (show all 43) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CC2D2A NM_001080522.2(CC2D2A):c.2683C>T (p.Gln895Ter)SNV Pathogenic 210609 rs764719093 4:15558984-15558984 4:15557361-15557361
2 CC2D2A NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter)SNV Pathogenic 217618 rs781252161 4:15534907-15534907 4:15533284-15533284
3 RPGRIP1L NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)SNV Pathogenic 1076 rs121918204 16:53686549-53686549 16:53652637-53652637
4 RPGRIP1L NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)SNV Pathogenic 1079 rs145665129 16:53679807-53679807 16:53645895-53645895
5 RPGRIP1L NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)SNV Pathogenic 1080 rs267607020 16:53686624-53686624 16:53652712-53652712
6 TMEM67 NM_001142301.1(TMEM67):c.1295A>G (p.Tyr432Cys)SNV Pathogenic 1371 rs137853107 8:94803510-94803510 8:93791282-93791282
7 TMEM67 NM_001142301.1(TMEM67):c.1718-2A>CSNV Pathogenic 1375 rs758948621 8:94809557-94809557 8:93797329-93797329
8 TMEM67 NM_001142301.1(TMEM67):c.2255T>C (p.Ile752Thr)SNV Pathogenic 1378 rs267607119 8:94821126-94821126 8:93808898-93808898
9 TMEM67 NM_001142301.1(TMEM67):c.2313+1G>TSNV Pathogenic 1379 rs786200867 8:94821185-94821185 8:93808957-93808957
10 TMEM67 NM_001142301.1(TMEM67):c.-62+734G>ASNV Pathogenic 1380 rs786200868 8:94768099-94768099 8:93755871-93755871
11 TMEM67 NM_001142301.1(TMEM67):c.1526T>C (p.Phe509Ser)SNV Pathogenic 1381 rs267607115 8:94807731-94807731 8:93795503-93795503
12 TMEM67 NM_001142301.1(TMEM67):c.196C>T (p.Gln66Ter)SNV Pathogenic 431704 rs1554615516 8:94776102-94776102 8:93763874-93763874
13 CC2D2A NM_001080522.2(CC2D2A):c.4483G>T (p.Glu1495Ter)SNV Pathogenic 522909 rs1553845300 4:15599075-15599075 4:15597452-15597452
14 TMEM67 NM_001142301.1(TMEM67):c.1600T>C (p.Cys534Arg)SNV Pathogenic/Likely pathogenic 1383 rs201893408 8:94808198-94808198 8:93795970-93795970
15 TMEM67 NM_001142301.1(TMEM67):c.803T>C (p.Leu268Ser)SNV Pathogenic/Likely pathogenic 56762 rs386834180 8:94793953-94793953 8:93781725-93781725
16 CC2D2A NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter)SNV Pathogenic/Likely pathogenic 217602 rs370880399 4:15565018-15565018 4:15563395-15563395
17 TMEM67 NM_001142301.1(TMEM67):c.872C>A (p.Thr291Lys)SNV Pathogenic/Likely pathogenic 217726 rs863225235 8:94794672-94794672 8:93782444-93782444
18 TMEM67 NM_001142301.1(TMEM67):c.1078C>T (p.Arg360Cys)SNV Pathogenic/Likely pathogenic 217725 rs752362727 8:94798483-94798483 8:93786255-93786255
19 CC2D2A NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter)SNV Pathogenic/Likely pathogenic 747 rs386833750 4:15565108-15565108 4:15563485-15563485
20 TMEM67 NM_001142301.1(TMEM67):c.1110del (p.Glu371fs)deletion Likely pathogenic 225493 rs749435317 8:94798515-94798515 8:93786287-93786287
21 CC2D2A NM_001080522.2(CC2D2A):c.3122_3123del (p.Ile1041fs)deletion Likely pathogenic 587631 rs1560184664 4:15565084-15565085 4:15563461-15563462
22 CC2D2A NM_001080522.2(CC2D2A):c.3577A>G (p.Ile1193Val)SNV Conflicting interpretations of pathogenicity 288557 rs188891842 4:15572102-15572102 4:15570479-15570479
23 CC2D2A NM_001080522.2(CC2D2A):c.2945G>A (p.Arg982His)SNV Conflicting interpretations of pathogenicity 288560 rs150093365 4:15562176-15562176 4:15560553-15560553
24 CC2D2A NM_001080522.2(CC2D2A):c.2326G>A (p.Gly776Arg)SNV Conflicting interpretations of pathogenicity 238276 rs200764366 4:15552591-15552591 4:15550968-15550968
25 CC2D2A NM_001080522.2(CC2D2A):c.3869T>C (p.Val1290Ala)SNV Conflicting interpretations of pathogenicity 421683 rs200427832 4:15581688-15581688 4:15580065-15580065
26 RPGRIP1L NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)SNV Conflicting interpretations of pathogenicity 423510 rs79524027 16:53690423-53690423 16:53656511-53656511
27 CC2D2A NM_001080522.2(CC2D2A):c.3347C>T (p.Thr1116Met)SNV Conflicting interpretations of pathogenicity 748 rs267606709 4:15569358-15569358 4:15567735-15567735
28 RPGRIP1L NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)SNV Conflicting interpretations of pathogenicity 1074 rs121918203 16:53679606-53679606 16:53645694-53645694
29 CC2D2A NM_001080522.2(CC2D2A):c.2804G>A (p.Arg935Gln)SNV Conflicting interpretations of pathogenicity 126234 rs187003641 4:15559105-15559105 4:15557482-15557482
30 RPGRIP1L NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)SNV Uncertain significance 235636 rs151332923 16:53639522-53639522 16:53605610-53605610
31 RPGRIP1L NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)SNV Uncertain significance 193717 rs137982921 16:53698869-53698869 16:53664957-53664957
32 CC2D2A NM_001080522.2(CC2D2A):c.1837G>A (p.Glu613Lys)SNV Uncertain significance 194715 rs201439617 4:15539594-15539594 4:15537971-15537971
33 CC2D2A NM_001080522.2(CC2D2A):c.2624C>T (p.Ser875Leu)SNV Uncertain significance 429980 rs200904521 4:15556832-15556832 4:15555209-15555209
34 CC2D2A NM_001080522.2(CC2D2A):c.4852C>T (p.Arg1618Cys)SNV Uncertain significance 238282 rs201219078 4:15603037-15603037 4:15601414-15601414
35 RPGRIP1L NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)SNV Uncertain significance 289611 rs143863631 16:53686789-53686789 16:53652877-53652877
36 RPGRIP1L NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)SNV Uncertain significance 319668 rs151212590 16:53726256-53726256 16:53692344-53692344
37 CC2D2A NM_001080522.2(CC2D2A):c.3135G>A (p.Val1045=)SNV Uncertain significance 388321 rs371608031 4:15565098-15565098 4:15563475-15563475
38 RPGRIP1L NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala)SNV Uncertain significance 406249 rs201131571 16:53686827-53686827 16:53652915-53652915
39 CC2D2A NM_001080522.2(CC2D2A):c.2323G>A (p.Glu775Lys)SNV Uncertain significance 634449 rs751808973 4:15552588-15552588 4:15550965-15550965
40 CC2D2A NM_001080522.2(CC2D2A):c.3841T>C (p.Phe1281Leu)SNV Uncertain significance 634561 rs1560192615 4:15581660-15581660 4:15580037-15580037
41 RPGRIP1L NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met)SNV Uncertain significance 530904 rs367845452 16:53674971-53674971 16:53641059-53641059
42 TMEM67 NM_001142301.1(TMEM67):c.1766C>T (p.Thr589Ile)SNV Uncertain significance 497917 rs370004832 8:94809607-94809607 8:93797379-93797379
43 CC2D2A NM_001080522.2(CC2D2A):c.1946C>T (p.Thr649Met)SNV Uncertain significance 497958 rs201884883 4:15539703-15539703 4:15538080-15538080

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

73 (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

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 TMEM67 RPGRIP1L INPP5E CC2D2A
2 cell projection GO:0042995 9.56 TMEM67 RPGRIP1L INPP5E CC2D2A
3 axoneme GO:0005930 9.37 RPGRIP1L INPP5E
4 cilium GO:0005929 9.26 TMEM67 RPGRIP1L INPP5E CC2D2A
5 MKS complex GO:0036038 9.16 TMEM67 CC2D2A
6 ciliary transition zone GO:0035869 8.8 TMEM67 RPGRIP1L CC2D2A

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 TMEM67 CC2D2A
2 determination of left/right symmetry GO:0007368 9.32 RPGRIP1L CC2D2A
3 camera-type eye development GO:0043010 9.26 RPGRIP1L CC2D2A
4 non-motile cilium assembly GO:1905515 9.16 RPGRIP1L CC2D2A
5 cilium assembly GO:0060271 9.13 TMEM67 RPGRIP1L CC2D2A
6 ciliary basal body-plasma membrane docking GO:0097711 8.8 TMEM67 RPGRIP1L CC2D2A

Sources for Coach Syndrome

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
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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
71 UMLS
72 UMLS via Orphanet
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