COACHS
MCID: CCH002
MIFTS: 55

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 13 43 15 39 71
Joubert Syndrome with Congenital Hepatic Fibrosis 56 12 52 58 73
Joubert Syndrome with Hepatic Defect 12 52 58 29 6
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 arima syndrome 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 hepatomegaly 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 intellectual disability , 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, also known as Joubert syndrome with hepatic defect, is a rare autosomal recessive... 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 294)
# Related Disease Score Top Affiliating Genes
1 arima syndrome 32.7 TMEM237 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
2 congenital hepatic fibrosis 31.0 TMEM67 RPGRIP1L CC2D2A AHI1
3 joubert syndrome 15 30.4 TMEM237 RPGRIP1L NPHP1
4 ciliopathy 30.3 TMEM67 TMEM231 RPGRIP1L
5 pathologic nystagmus 30.3 TMEM67 MKS1 CEP290 AHI1
6 encephalocele 30.2 TMEM67 MKS1 CEP290 CC2D2A B9D1
7 oculomotor apraxia 30.2 NPHP1 CSPP1 ARL13B AHI1
8 joubert syndrome 6 30.1 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
9 apraxia 29.6 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L NPHP1
10 joubert syndrome 2 29.2 TMEM67 TMEM216 TMEM138 TCTN2 RPGRIP1L OFD1
11 meckel syndrome, type 3 28.9 TMEM67 TMEM237 TMEM231 TMEM216 TCTN3 TCTN2
12 coloboma of macula 28.8 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN3
13 fundus dystrophy 28.5 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN3
14 joubert syndrome 1 28.5 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN3
15 nephronophthisis 28.3 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN3
16 meckel syndrome, type 1 28.0 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN3
17 orofaciodigital syndrome i 10.6 OFD1 CEP290
18 nephronophthisis 1 10.5 NPHP1 B9D1 AHI1
19 retinal aplasia 10.5 NPHP1 CEP290
20 retinal ciliopathy 10.5 INPP5E CEP290
21 orofaciodigital syndrome iii 10.5 TMEM231 OFD1
22 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.5 INPP5E CC2D2A
23 occipital encephalocele 10.5 TCTN3 CEP290
24 polydactyly 10.5 MKS1 INPP5E CEP290 CC2D2A
25 renal dysplasia, cystic 10.5 INPP5E CEP290
26 bardet-biedl syndrome 6 10.5 RPGRIP1L MKS1 CEP290
27 autism 10.5
28 meckel syndrome, type 7 10.4 TMEM216 CC2D2A B9D1
29 cogan syndrome 10.4 NPHP1 CEP290 AHI1
30 autism spectrum disorder 10.4
31 simpson-golabi-behmel syndrome, type 2 10.4 OFD1 CEP290
32 alstrom syndrome 10.4 RPGRIP1L NPHP1 CEP290
33 cerebellar hypoplasia 10.4 TMEM67 RPGRIP1L CC2D2A
34 polycystic kidney disease 2 with or without polycystic liver disease 10.4 TMEM67 MKS1 ARL13B
35 renal-hepatic-pancreatic dysplasia 10.4 OFD1 NPHP1 CEP290
36 eating disorder 10.4
37 nephronophthisis 13 10.4 NPHP1 CEP290
38 leber congenital amaurosis 6 10.4 MKS1 CEP290
39 joubert syndrome 20 10.4 TMEM237 TMEM231
40 ataxia and polyneuropathy, adult-onset 10.4
41 pulmonary disease, chronic obstructive 10.4
42 oligohydramnios 10.4 TMEM67 TMEM231 MKS1 CC2D2A
43 nephronophthisis 16 10.3 TMEM67 RPGRIP1L NPHP1 MKS1 CEP290
44 hutterite cerebroosteonephrodysplasia syndrome 10.3
45 heart disease 10.3
46 congestive heart failure 10.3
47 traumatic brain injury 10.3
48 nephronophthisis 19 10.3 TMEM67 RPGRIP1L NPHP1 CEP290 AHI1
49 nephronophthisis 12 10.3 NPHP1 CEP290
50 orofaciodigital syndrome v 10.3 TMEM231 TCTN3 TCTN1 OFD1

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 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
4 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
5 aplasia/hypoplasia of the cerebellum 58 31 hallmark (90%) Very frequent (99-80%) HP:0007360
6 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
7 apnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002104
8 congenital hepatic fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002612
9 cerebellar vermis hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001320
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 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
13 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
14 nephropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000112
15 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
16 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
17 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
18 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
19 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
20 chorioretinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000567
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 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
24 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
25 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
26 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
27 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
28 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
29 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
30 portal hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001409
31 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
32 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
33 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
34 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
35 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
36 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
37 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
38 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
39 abnormality of neuronal migration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002269
40 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
41 postaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001162
42 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
43 abnormality of the hypothalamus-pituitary axis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000864
44 neoplasm of the liver 58 31 occasional (7.5%) Occasional (29-5%) HP:0002896
45 occipital encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002085
46 chronic hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0100626
47 seizure 31 occasional (7.5%) HP:0001250
48 global developmental delay 31 HP:0001263
49 hypertelorism 31 HP:0000316
50 seizures 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Head And Neck Eyes:
hypertelorism
nystagmus
oculomotor apraxia
ocular coloboma

Genitourinary Kidneys:
nephronophthisis
renal failure
medullary cystic renal disease

Laboratory Abnormalities:
abnormal liver enzymes

Abdomen Liver:
hepatomegaly
portal hypertension
cirrhosis
ductal plate malformation
hepatic fibrosis, congenital
more
Neurologic Central Nervous System:
ataxia
hyperreflexia
cerebellar vermis hypoplasia
hypotonia
mental retardation
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 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 AHI1 ARL13B B9D1 CC2D2A CEP290 INPP5E
2 cardiovascular system MP:0005385 10.24 B9D1 CC2D2A CEP290 MKS1 OFD1 RPGRIP1L
3 embryo MP:0005380 10.18 ARL13B B9D1 CC2D2A INPP5E MKS1 OFD1
4 craniofacial MP:0005382 10.11 B9D1 CC2D2A CEP290 INPP5E MKS1 OFD1
5 growth/size/body region MP:0005378 10.11 AHI1 ARL13B B9D1 CC2D2A CEP290 INPP5E
6 mortality/aging MP:0010768 10.1 AHI1 ARL13B B9D1 CC2D2A CEP290 INPP5E
7 limbs/digits/tail MP:0005371 10.06 B9D1 CC2D2A INPP5E MKS1 OFD1 RPGRIP1L
8 nervous system MP:0003631 10.06 AHI1 ARL13B B9D1 CC2D2A CEP290 INPP5E
9 digestive/alimentary MP:0005381 10.03 B9D1 CC2D2A INPP5E MKS1 OFD1 RPGRIP1L
10 renal/urinary system MP:0005367 9.7 AHI1 ARL13B B9D1 CC2D2A CEP290 INPP5E
11 vision/eye MP:0005391 9.4 AHI1 ARL13B B9D1 CC2D2A CEP290 INPP5E

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 Joubert Syndrome with Hepatic Defect 29 CC2D2A RPGRIP1L TMEM67

Anatomical Context for Coach Syndrome

MalaCards organs/tissues related to Coach Syndrome:

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

Publications for Coach Syndrome

Articles related to Coach Syndrome:

(show all 33)
# Title Authors PMID Year
1
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 61 6 56
19574260 2010
2
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 61 6 56
19058225 2009
3
COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation. 6 56 61
8862632 1996
4
Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. 6 56
2929661 1989
5
Early detection of severe cholestatic hepatopathy in COACH syndrome. 56 61
12210305 2002
6
Renal insufficiency is a component of COACH syndrome. 56 61
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
Nephronophthisis 61
27336129 2016
17
Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome. 61
26075130 2015
18
Coach syndrome: the first case from Turkey. 61
25698282 2015
19
Unraveling the genetics of Joubert and Meckel-Gruber syndromes. 61
25729630 2014
20
Dealing with congenital hepatic fibrosis? Remember COACH syndrome. 61
26183508 2014
21
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
22
[Progression of hepatic fibrosis observed by repeated liver biopsies in an adult case of COACH syndrome]. 61
22790627 2012
23
Pulmonary embolism after long duration rail travel: economy class syndrome or rail coach syndrome. 61
22315757 2011
24
COACH syndrome: an unusual cause of neonatal cholestasis. 61
21237470 2011
25
Clinical and molecular features of Joubert syndrome and related disorders. 61
19876931 2009
26
The first Japanese case of COACH syndrome. 61
19261004 2009
27
Successful combined liver and kidney transplant for COACH syndrome and 5-yr follow-up. 61
16313315 2005
28
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. 61
14981712 2004
29
COACH syndrome associated with multifocal liver tumors. 61
12385458 2002
30
Hepatic insufficiency and liver transplantation in a patient with COACH syndrome. 61
12390436 2002
31
Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases. 61
12368986 2002
32
Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. 61
10508989 1999
33
Imaging findings in COACH syndrome. 61
9530063 1998

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 TMEM67 NM_153704.6(TMEM67):c.439C>T (p.Gln147Ter)SNV Pathogenic 431704 rs1554615516 8:94776102-94776102 8:93763874-93763874
2 CC2D2A NM_001080522.2(CC2D2A):c.4483G>T (p.Glu1495Ter)SNV Pathogenic 522909 rs1553845300 4:15599075-15599075 4:15597452-15597452
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_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)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.2313+1G>TSNV Pathogenic 1379 rs786200867 8:94821185-94821185 8:93808957-93808957
9 TMEM67 NM_001142301.1(TMEM67):c.-62+734G>ASNV Pathogenic 1380 rs786200868 8:94768099-94768099 8:93755871-93755871
10 TMEM67 NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)SNV Pathogenic 1381 rs267607115 8:94807731-94807731 8:93795503-93795503
11 CC2D2A NM_001080522.2(CC2D2A):c.2683C>T (p.Gln895Ter)SNV Pathogenic 210609 rs764719093 4:15558984-15558984 4:15557361-15557361
12 CC2D2A NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter)SNV Pathogenic 217618 rs781252161 4:15534907-15534907 4:15533284-15533284
13 CC2D2A NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter)SNV Pathogenic/Likely pathogenic 217602 rs370880399 4:15565018-15565018 4:15563395-15563395
14 TMEM67 NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)SNV Pathogenic/Likely pathogenic 217726 rs863225235 8:94794672-94794672 8:93782444-93782444
15 TMEM67 NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)SNV Pathogenic/Likely pathogenic 217725 rs752362727 8:94798483-94798483 8:93786255-93786255
16 TMEM67 NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)SNV Pathogenic/Likely pathogenic 1383 rs201893408 8:94808198-94808198 8:93795970-93795970
17 TMEM67 NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)SNV Pathogenic/Likely pathogenic 56762 rs386834180 8:94793953-94793953 8:93781725-93781725
18 TMEM67 NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)SNV Pathogenic/Likely pathogenic 1378 rs267607119 8:94821126-94821126 8:93808898-93808898
19 CC2D2A NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter)SNV Pathogenic/Likely pathogenic 747 rs386833750 4:15565108-15565108 4:15563485-15563485
20 CC2D2A NM_001080522.2(CC2D2A):c.3122_3123del (p.Ile1041fs)deletion Likely pathogenic 587631 rs1560184664 4:15565084-15565085 4:15563461-15563462
21 TMEM67 NM_153704.6(TMEM67):c.1353del (p.Glu452fs)deletion Likely pathogenic 225493 rs749435317 8:94798515-94798515 8:93786287-93786287
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.2804G>A (p.Arg935Gln)SNV Conflicting interpretations of pathogenicity 126234 rs187003641 4:15559105-15559105 4:15557482-15557482
25 CC2D2A NM_001080522.2(CC2D2A):c.3347C>T (p.Thr1116Met)SNV Conflicting interpretations of pathogenicity 748 rs267606709 4:15569358-15569358 4:15567735-15567735
26 RPGRIP1L NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)SNV Conflicting interpretations of pathogenicity 1074 rs121918203 16:53679606-53679606 16:53645694-53645694
27 CC2D2A NM_001080522.2(CC2D2A):c.1946C>T (p.Thr649Met)SNV Conflicting interpretations of pathogenicity 497958 rs201884883 4:15539703-15539703 4:15538080-15538080
28 CC2D2A NM_001080522.2(CC2D2A):c.3869T>C (p.Val1290Ala)SNV Conflicting interpretations of pathogenicity 421683 rs200427832 4:15581688-15581688 4:15580065-15580065
29 RPGRIP1L NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)SNV Conflicting interpretations of pathogenicity 423510 rs79524027 16:53690423-53690423 16:53656511-53656511
30 CC2D2A NM_001080522.2(CC2D2A):c.2326G>A (p.Gly776Arg)SNV Conflicting interpretations of pathogenicity 238276 rs200764366 4:15552591-15552591 4:15550968-15550968
31 CC2D2A NM_001080522.2(CC2D2A):c.4852C>T (p.Arg1618Cys)SNV Uncertain significance 238282 rs201219078 4:15603037-15603037 4:15601414-15601414
32 CC2D2A NM_001080522.2(CC2D2A):c.2624C>T (p.Ser875Leu)SNV Uncertain significance 429980 rs200904521 4:15556832-15556832 4:15555209-15555209
33 TMEM67 NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile)SNV Uncertain significance 497917 rs370004832 8:94809607-94809607 8:93797379-93797379
34 RPGRIP1L NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala)SNV Uncertain significance 406249 rs201131571 16:53686827-53686827 16:53652915-53652915
35 RPGRIP1L NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met)SNV Uncertain significance 530904 rs367845452 16:53674971-53674971 16:53641059-53641059
36 CC2D2A NM_001080522.2(CC2D2A):c.2323G>A (p.Glu775Lys)SNV Uncertain significance 634449 rs751808973 4:15552588-15552588 4:15550965-15550965
37 CC2D2A NM_001080522.2(CC2D2A):c.3841T>C (p.Phe1281Leu)SNV Uncertain significance 634561 rs1560192615 4:15581660-15581660 4:15580037-15580037
38 RPGRIP1L NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)SNV Uncertain significance 193717 rs137982921 16:53698869-53698869 16:53664957-53664957
39 CC2D2A NM_001080522.2(CC2D2A):c.1837G>A (p.Glu613Lys)SNV Uncertain significance 194715 rs201439617 4:15539594-15539594 4:15537971-15537971
40 RPGRIP1L NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)SNV Uncertain significance 289611 rs143863631 16:53686789-53686789 16:53652877-53652877
41 RPGRIP1L NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)SNV Uncertain significance 319668 rs151212590 16:53726256-53726256 16:53692344-53692344
42 CC2D2A NM_001080522.2(CC2D2A):c.3135G>A (p.Val1045=)SNV Uncertain significance 388321 rs371608031 4:15565098-15565098 4:15563475-15563475
43 RPGRIP1L NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)SNV Uncertain significance 235636 rs151332923 16:53639522-53639522 16:53605610-53605610

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:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.41 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN3
2 cytoplasm GO:0005737 10.36 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
3 cytoskeleton GO:0005856 10.17 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
4 centrosome GO:0005813 10.03 TMEM67 RPGRIP1L OFD1 MKS1 CSPP1 CEP290
5 MKS complex GO:0036038 9.96 TMEM67 TMEM231 TMEM216 TCTN2 TCTN1 MKS1
6 microtubule organizing center GO:0005815 9.89 RPGRIP1L OFD1 MKS1 CSPP1 CEP290
7 ciliary basal body GO:0036064 9.85 RPGRIP1L OFD1 MKS1 CEP290 B9D1 AHI1
8 ciliary transition zone GO:0035869 9.85 TMEM67 TMEM237 TMEM231 TMEM216 TCTN1 RPGRIP1L
9 ciliary membrane GO:0060170 9.8 TMEM67 TMEM231 TCTN3 TCTN2 ARL13B
10 cilium GO:0005929 9.8 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 RPGRIP1L
11 centriole GO:0005814 9.78 OFD1 MKS1 CEP290 AHI1
12 photoreceptor connecting cilium GO:0032391 9.76 TMEM237 RPGRIP1L NPHP1 CEP290
13 motile cilium GO:0031514 9.72 OFD1 NPHP1 ARL13B
14 axoneme GO:0005930 9.7 RPGRIP1L INPP5E ARL13B
15 cell projection GO:0042995 9.55 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.97 TMEM67 TMEM216 TCTN3 TCTN2 TCTN1 RPGRIP1L
2 in utero embryonic development GO:0001701 9.83 TMEM231 TCTN1 RPGRIP1L B9D1
3 cell projection organization GO:0030030 9.83 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN3
4 determination of left/right symmetry GO:0007368 9.73 RPGRIP1L MKS1 CC2D2A ARL13B
5 smoothened signaling pathway GO:0007224 9.73 TMEM231 TCTN3 TCTN2 CC2D2A B9D1 ARL13B
6 non-motile cilium assembly GO:1905515 9.72 TMEM216 RPGRIP1L MKS1 CC2D2A ARL13B
7 camera-type eye development GO:0043010 9.71 TMEM231 RPGRIP1L CC2D2A B9D1
8 embryonic digit morphogenesis GO:0042733 9.65 TMEM231 MKS1 B9D1
9 regulation of smoothened signaling pathway GO:0008589 9.63 TCTN1 RPGRIP1L MKS1
10 vasculature development GO:0001944 9.6 TMEM231 B9D1
11 telencephalon development GO:0021537 9.59 TCTN1 RPGRIP1L
12 motile cilium assembly GO:0044458 9.58 MKS1 CC2D2A
13 axoneme assembly GO:0035082 9.58 OFD1 CC2D2A
14 hindbrain development GO:0030902 9.57 CEP290 AHI1
15 head development GO:0060322 9.56 RPGRIP1L MKS1
16 embryonic brain development GO:1990403 9.55 MKS1 CC2D2A
17 left/right axis specification GO:0070986 9.54 ARL13B AHI1
18 protein localization to ciliary transition zone GO:1904491 9.54 TCTN2 TCTN1 CC2D2A
19 cilium assembly GO:0060271 9.53 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN3
20 neuroepithelial cell differentiation GO:0060563 9.51 TMEM231 B9D1
21 neural tube patterning GO:0021532 9.49 RPGRIP1L ARL13B

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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