COACH1
MCID: CCH009
MIFTS: 55

Coach Syndrome 1 (COACH1)

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

Aliases & Classifications for Coach Syndrome 1

MalaCards integrated aliases for Coach Syndrome 1:

Name: Coach Syndrome 1 57
Coach Syndrome 57 12 20 58 72 36 13 44 15 39 70
Joubert Syndrome with Congenital Hepatic Fibrosis 57 12 20 58 72
Joubert Syndrome with Hepatic Defect 12 20 58 29 6
Gentile Syndrome 12 20 58
Js-H 12 20 58
Cerebellar Vermis Hypo/aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis 57 12
Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis 20 58
Cerebellar Vermis Hypo/aplasia Oligophrenia Congenital Ataxia Ocular Coloboma and Hepatic Fibrosis 72
Cerebellar Vermis Hypo/aplasia, Oligophrenia, Ataxia Congenital, Coloboma, and Hepatic Fibrosis 20
Coach1 57
Coachs 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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 1:
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 1

OMIM® : 57 COACH syndrome is an autosomal recessive disorder characterized by impaired intellectual development, 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) (Updated 05-Apr-2021)

MalaCards based summary : Coach Syndrome 1, also known as coach syndrome, is related to arima syndrome and congenital hepatic fibrosis, and has symptoms including ataxia An important gene associated with Coach Syndrome 1 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 hepatomegaly

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).

GARD : 20 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 : 72 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 : 73 COACH syndrome, also known as Joubert syndrome with hepatic defect, is a rare autosomal recessive... more...

Related Diseases for Coach Syndrome 1

Diseases in the Coach Syndrome 1 family:

Coach Syndrome 2 Coach Syndrome 3

Diseases related to Coach Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 arima syndrome 31.6 TMEM237 TMEM231 TMEM216 TMEM138 CEP290 CC2D2A
2 congenital hepatic fibrosis 30.8 TMEM67 RPGRIP1L CC2D2A AHI1
3 pathologic nystagmus 30.2 TMEM67 MKS1 CEP290
4 joubert syndrome 6 30.1 TMEM67 TMEM216 RPGRIP1L NPHP1 MKS1 CEP290
5 ciliopathy 30.1 TMEM67 TMEM231 RPGRIP1L CEP290 CC2D2A
6 joubert syndrome 15 30.0 TMEM237 TMEM231 RPGRIP1L NPHP1 CC2D2A
7 apraxia 29.9 TMEM67 TCTN2 NPHP1 CPLANE1 CEP290 CC2D2A
8 joubert syndrome 9 29.8 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
9 spinocerebellar ataxia 29 29.2 TMEM67 TMEM237 TMEM216 TCTN2 TCTN1 RPGRIP1L
10 meckel syndrome, type 3 29.1 TMEM67 TMEM237 TMEM231 TMEM216 TCTN3 TCTN2
11 coloboma of macula 29.1 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN3
12 fundus dystrophy 28.9 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN3
13 joubert syndrome 1 28.8 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN3
14 meckel syndrome, type 1 28.7 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN3
15 nephronophthisis 28.5 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN3
16 coach syndrome 2 11.5
17 coach syndrome 3 11.5
18 orofaciodigital syndrome i 10.4 OFD1 CEP290
19 retinal aplasia 10.4 NPHP1 CEP290
20 retinal ciliopathy 10.4 INPP5E CEP290
21 familial clubfoot with or without associated lower limb anomalies 10.3 INPP5E CC2D2A
22 bardet-biedl syndrome 6 10.3 RPGRIP1L MKS1 CEP290
23 occipital encephalocele 10.3 TCTN3 CEP290
24 bardet-biedl syndrome 11 10.3 RPGRIP1L MKS1 CEP290
25 oligohydramnios 10.3 TMEM67 MKS1 CC2D2A
26 rhyns syndrome 10.3 TMEM67 TMEM231
27 inherited retinal disorder 10.3
28 ataxia and polyneuropathy, adult-onset 10.3
29 polycystic kidney disease 2 with or without polycystic liver disease 10.3 TMEM67 MKS1 ARL13B
30 nephronophthisis 1 10.3 NPHP1 MKS1 B9D1 AHI1
31 orofaciodigital syndrome iii 10.3 TMEM231 OFD1
32 simpson-golabi-behmel syndrome, type 2 10.3 OFD1 CEP290
33 renal dysplasia, cystic 10.3 INPP5E CEP290
34 nephronophthisis 16 10.3 TMEM67 RPGRIP1L NPHP1 CEP290
35 renal-hepatic-pancreatic dysplasia 10.3 OFD1 NPHP1 CEP290
36 kidney disease 10.3 TMEM67 NPHP1 MKS1 CEP290 CC2D2A
37 leber congenital amaurosis 6 10.3 MKS1 CEP290
38 joubert syndrome 20 10.3 TMEM237 TMEM231
39 bardet-biedl syndrome 1 10.2 TMEM67 TMEM216 NPHP1 MKS1 CEP290
40 cogan syndrome 10.2 RPGRIP1L NPHP1 CEP290 CC2D2A AHI1
41 retinitis pigmentosa 54 10.2 TMEM231 CC2D2A
42 bardet-biedl syndrome 13 10.2 MKS1 CEP290
43 cone-rod dystrophy 16 10.2 TMEM231 TMEM138 B9D1
44 joubert syndrome 14 10.2 TMEM237 TMEM231 TMEM216 B9D1
45 orofaciodigital syndrome v 10.2 TMEM231 TCTN3 OFD1 CPLANE1
46 varicose veins 10.2
47 portal hypertension 10.2
48 nephronophthisis 11 10.2 TMEM67 TMEM216 RPGRIP1L NPHP1 CEP290 CC2D2A
49 bardet-biedl syndrome 14 10.2 TMEM67 TMEM216 RPGRIP1L MKS1 CEP290 CC2D2A
50 acrocallosal syndrome 10.2 TMEM216 TCTN3 RPGRIP1L NPHP1 AHI1

Graphical network of the top 20 diseases related to Coach Syndrome 1:



Diseases related to Coach Syndrome 1

Symptoms & Phenotypes for Coach Syndrome 1

Human phenotypes related to Coach Syndrome 1:

58 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
4 aplasia/hypoplasia of the cerebellum 58 31 hallmark (90%) Very frequent (99-80%) HP:0007360
5 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
6 apnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002104
7 congenital hepatic fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002612
8 cerebellar vermis hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001320
9 oculomotor apraxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000657
10 intrahepatic biliary atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005248
11 hypotonia 31 hallmark (90%) HP:0001252
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 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 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
24 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
25 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
26 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
27 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
28 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
29 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
30 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
31 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
32 portal hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001409
33 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
34 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
35 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
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 seizures 58 Occasional (29-5%)
49 spasticity 31 HP:0001257
50 hypertension 31 HP:0000822

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
ataxia
cerebellar vermis hypoplasia
hypotonia
mental retardation
more
Abdomen Spleen:
splenomegaly

Genitourinary Kidneys:
nephronophthisis
renal failure
medullary cystic renal disease

Laboratory Abnormalities:
abnormal liver enzymes

Head And Neck Eyes:
nystagmus
hypertelorism
oculomotor apraxia
ocular coloboma

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 (Updated 05-Apr-2021)

UMLS symptoms related to Coach Syndrome 1:


ataxia

MGI Mouse Phenotypes related to Coach Syndrome 1:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.39 AHI1 ARL13B B9D1 CC2D2A CEP290 CPLANE1
2 cardiovascular system MP:0005385 10.37 B9D1 CC2D2A CEP290 CPLANE1 INPP5E MKS1
3 growth/size/body region MP:0005378 10.31 AHI1 ARL13B B9D1 CC2D2A CEP290 CPLANE1
4 embryo MP:0005380 10.27 ARL13B B9D1 CC2D2A CPLANE1 INPP5E MKS1
5 craniofacial MP:0005382 10.24 B9D1 CC2D2A CEP290 CPLANE1 INPP5E MKS1
6 mortality/aging MP:0010768 10.2 AHI1 ARL13B B9D1 CC2D2A CEP290 CPLANE1
7 nervous system MP:0003631 10.19 AHI1 ARL13B B9D1 CC2D2A CEP290 CPLANE1
8 limbs/digits/tail MP:0005371 10.15 B9D1 CC2D2A CPLANE1 INPP5E MKS1 OFD1
9 digestive/alimentary MP:0005381 10.13 B9D1 CC2D2A CPLANE1 INPP5E MKS1 OFD1
10 integument MP:0010771 10.01 B9D1 CC2D2A INPP5E MKS1 NPHP1 RPGRIP1L
11 renal/urinary system MP:0005367 9.93 AHI1 ARL13B B9D1 CC2D2A CEP290 CPLANE1
12 respiratory system MP:0005388 9.5 ARL13B CC2D2A CEP290 CPLANE1 MKS1 OFD1
13 vision/eye MP:0005391 9.5 AHI1 ARL13B B9D1 CC2D2A CEP290 CPLANE1

Drugs & Therapeutics for Coach Syndrome 1

Search Clinical Trials , NIH Clinical Center for Coach Syndrome 1

Cochrane evidence based reviews: coach syndrome

Genetic Tests for Coach Syndrome 1

Genetic tests related to Coach Syndrome 1:

# Genetic test Affiliating Genes
1 Joubert Syndrome with Hepatic Defect 29 TMEM67

Anatomical Context for Coach Syndrome 1

MalaCards organs/tissues related to Coach Syndrome 1:

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

Publications for Coach Syndrome 1

Articles related to Coach Syndrome 1:

(show all 34)
# Title Authors PMID Year
1
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 61 6 57
19574260 2010
2
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 57 6 61
19058225 2009
3
COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation. 61 57 6
8862632 1996
4
Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. 6 57
2929661 1989
5
Early detection of severe cholestatic hepatopathy in COACH syndrome. 57 61
12210305 2002
6
Renal insufficiency is a component of COACH syndrome. 57 61
8669436 1996
7
Expanding the phenome and variome of skeletal dysplasia. 6
29620724 2018
8
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 6
21633164 2011
9
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 6
19508969 2009
10
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 6
18950740 2008
11
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 6
17160906 2007
12
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 6
16415887 2006
13
Familial juvenile nephronophthisis with hepatic fibrosis and neurocutaneous dysplasia. 57
7410112 1980
14
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy. 61
33323469 2020
15
Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. 61
28860541 2017
16
EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT). 61
28726664 2017
17
Nephronophthisis 61
27336129 2016
18
Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome. 61
26075130 2015
19
Coach syndrome: the first case from Turkey. 61
25698282 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

Variations for Coach Syndrome 1

ClinVar genetic disease variations for Coach Syndrome 1:

6 (show top 50) (show all 63)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CC2D2A NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter) SNV Pathogenic 217618 rs781252161 GRCh37: 4:15534907-15534907
GRCh38: 4:15533284-15533284
2 CC2D2A NM_001080522.2(CC2D2A):c.2683C>T (p.Gln895Ter) SNV Pathogenic 210609 rs764719093 GRCh37: 4:15558984-15558984
GRCh38: 4:15557361-15557361
3 TMEM67 NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) SNV Pathogenic 217725 rs752362727 GRCh37: 8:94798483-94798483
GRCh38: 8:93786255-93786255
4 TMEM67 NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys) SNV Pathogenic 1371 rs137853107 GRCh37: 8:94803510-94803510
GRCh38: 8:93791282-93791282
5 TMEM67 NM_001142301.1(TMEM67):c.1718-2A>C SNV Pathogenic 1375 rs758948621 GRCh37: 8:94809557-94809557
GRCh38: 8:93797329-93797329
6 TMEM67 NM_001142301.1(TMEM67):c.2313+1G>T SNV Pathogenic 1379 rs786200867 GRCh37: 8:94821185-94821185
GRCh38: 8:93808957-93808957
7 TMEM67 NM_001142301.1(TMEM67):c.-62+734G>A SNV Pathogenic 1380 rs786200868 GRCh37: 8:94768099-94768099
GRCh38: 8:93755871-93755871
8 TMEM67 NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser) SNV Pathogenic 1381 rs267607115 GRCh37: 8:94807731-94807731
GRCh38: 8:93795503-93795503
9 CC2D2A NM_001080522.2(CC2D2A):c.4483G>T (p.Glu1495Ter) SNV Pathogenic 522909 rs1553845300 GRCh37: 4:15599075-15599075
GRCh38: 4:15597452-15597452
10 TMEM67 NM_153704.6(TMEM67):c.439C>T (p.Gln147Ter) SNV Pathogenic 431704 rs1554615516 GRCh37: 8:94776102-94776102
GRCh38: 8:93763874-93763874
11 RPGRIP1L NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) SNV Pathogenic 1076 rs121918204 GRCh37: 16:53686549-53686549
GRCh38: 16:53652637-53652637
12 TMEM67 NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) SNV Pathogenic 217726 rs863225235 GRCh37: 8:94794672-94794672
GRCh38: 8:93782444-93782444
13 TMEM67 NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) SNV Pathogenic 1378 rs267607119 GRCh37: 8:94821126-94821126
GRCh38: 8:93808898-93808898
14 CC2D2A NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) SNV Pathogenic 217602 rs370880399 GRCh37: 4:15565018-15565018
GRCh38: 4:15563395-15563395
15 TMEM67 NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) SNV Pathogenic 1383 rs201893408 GRCh37: 8:94808198-94808198
GRCh38: 8:93795970-93795970
16 CC2D2A NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter) SNV Pathogenic 982521 GRCh37: 4:15559104-15559104
GRCh38: 4:15557481-15557481
17 RPGRIP1L NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter) SNV Pathogenic 1029377 GRCh37: 16:53682941-53682941
GRCh38: 16:53649029-53649029
18 RPGRIP1L NM_015272.5(RPGRIP1L):c.3508C>T (p.Gln1170Ter) SNV Pathogenic 1029378 GRCh37: 16:53653045-53653045
GRCh38: 16:53619133-53619133
19 CC2D2A NM_001080522.2(CC2D2A):c.4065+2T>C SNV Pathogenic 594430 rs1179041639 GRCh37: 4:15587871-15587871
GRCh38: 4:15586248-15586248
20 CC2D2A NM_001378615.1(CC2D2A):c.942_943del (p.Tyr315fs) Deletion Pathogenic 1032610 GRCh37: 4:15517551-15517552
GRCh38: 4:15515928-15515929
21 RPGRIP1L NM_015272.5(RPGRIP1L):c.3556_3557AC[3] (p.Pro1187fs) Microsatellite Pathogenic 848273 GRCh37: 16:53652993-53652994
GRCh38: 16:53619081-53619082
22 CC2D2A NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) SNV Likely pathogenic 743 rs118204051 GRCh37: 4:15569375-15569375
GRCh38: 4:15567752-15567752
23 RPGRIP1L NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) SNV Likely pathogenic 1074 rs121918203 GRCh37: 16:53679606-53679606
GRCh38: 16:53645694-53645694
24 CC2D2A NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) SNV Likely pathogenic 747 rs386833750 GRCh37: 4:15565108-15565108
GRCh38: 4:15563485-15563485
25 TMEM67 NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) SNV Likely pathogenic 56762 rs386834180 GRCh37: 8:94793953-94793953
GRCh38: 8:93781725-93781725
26 CC2D2A NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs) Deletion Likely pathogenic 973861 GRCh37: 4:15569024-15569033
GRCh38: 4:15567401-15567410
27 CC2D2A NM_001080522.2(CC2D2A):c.3122_3123del (p.Ile1041fs) Deletion Likely pathogenic 587631 rs1560184664 GRCh37: 4:15565084-15565085
GRCh38: 4:15563461-15563462
28 TMEM67 NM_153704.6(TMEM67):c.1353del (p.Glu452fs) Deletion Likely pathogenic 225493 rs749435317 GRCh37: 8:94798515-94798515
GRCh38: 8:93786287-93786287
29 CC2D2A NM_001080522.2(CC2D2A):c.2804G>A (p.Arg935Gln) SNV Uncertain significance 126234 rs187003641 GRCh37: 4:15559105-15559105
GRCh38: 4:15557482-15557482
30 CC2D2A NM_001080522.2(CC2D2A):c.1946C>T (p.Thr649Met) SNV Uncertain significance 497958 rs201884883 GRCh37: 4:15539703-15539703
GRCh38: 4:15538080-15538080
31 CC2D2A NM_001080522.2(CC2D2A):c.2945G>A (p.Arg982His) SNV Uncertain significance 288560 rs150093365 GRCh37: 4:15562176-15562176
GRCh38: 4:15560553-15560553
32 CC2D2A NM_001080522.2(CC2D2A):c.3577A>G (p.Ile1193Val) SNV Uncertain significance 288557 rs188891842 GRCh37: 4:15572102-15572102
GRCh38: 4:15570479-15570479
33 CC2D2A NM_001080522.2(CC2D2A):c.2323G>A (p.Glu775Lys) SNV Uncertain significance 634449 rs751808973 GRCh37: 4:15552588-15552588
GRCh38: 4:15550965-15550965
34 CC2D2A NM_001080522.2(CC2D2A):c.3841T>C (p.Phe1281Leu) SNV Uncertain significance 634561 rs1560192615 GRCh37: 4:15581660-15581660
GRCh38: 4:15580037-15580037
35 RPGRIP1L NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala) SNV Uncertain significance 406249 rs201131571 GRCh37: 16:53686827-53686827
GRCh38: 16:53652915-53652915
36 RPGRIP1L NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) SNV Uncertain significance 319668 rs151212590 GRCh37: 16:53726256-53726256
GRCh38: 16:53692344-53692344
37 CC2D2A NM_001080522.2(CC2D2A):c.2624C>T (p.Ser875Leu) SNV Uncertain significance 429980 rs200904521 GRCh37: 4:15556832-15556832
GRCh38: 4:15555209-15555209
38 RPGRIP1L NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) SNV Uncertain significance 289611 rs143863631 GRCh37: 16:53686789-53686789
GRCh38: 16:53652877-53652877
39 RPGRIP1L NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile) SNV Uncertain significance 423510 rs79524027 GRCh37: 16:53690423-53690423
GRCh38: 16:53656511-53656511
40 CC2D2A NM_001080522.2(CC2D2A):c.2326G>A (p.Gly776Arg) SNV Uncertain significance 238276 rs200764366 GRCh37: 4:15552591-15552591
GRCh38: 4:15550968-15550968
41 CC2D2A NM_001080522.2(CC2D2A):c.3135G>A (p.Val1045=) SNV Uncertain significance 388321 rs371608031 GRCh37: 4:15565098-15565098
GRCh38: 4:15563475-15563475
42 CC2D2A NM_001080522.2(CC2D2A):c.3869T>C (p.Val1290Ala) SNV Uncertain significance 421683 rs200427832 GRCh37: 4:15581688-15581688
GRCh38: 4:15580065-15580065
43 RPGRIP1L NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) SNV Uncertain significance 235636 rs151332923 GRCh37: 16:53639522-53639522
GRCh38: 16:53605610-53605610
44 RPGRIP1L NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met) SNV Uncertain significance 530904 rs367845452 GRCh37: 16:53674971-53674971
GRCh38: 16:53641059-53641059
45 TMEM67 NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) SNV Uncertain significance 497917 rs370004832 GRCh37: 8:94809607-94809607
GRCh38: 8:93797379-93797379
46 CC2D2A NM_001080522.2(CC2D2A):c.1837G>A (p.Glu613Lys) SNV Uncertain significance 194715 rs201439617 GRCh37: 4:15539594-15539594
GRCh38: 4:15537971-15537971
47 CC2D2A NM_001080522.2(CC2D2A):c.4852C>T (p.Arg1618Cys) SNV Uncertain significance 238282 rs201219078 GRCh37: 4:15603037-15603037
GRCh38: 4:15601414-15601414
48 CC2D2A NM_001080522.2(CC2D2A):c.2039G>A (p.Arg680His) SNV Uncertain significance 194820 rs200236654 GRCh37: 4:15542495-15542495
GRCh38: 4:15540872-15540872
49 RPGRIP1L NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) SNV Uncertain significance 193717 rs137982921 GRCh37: 16:53698869-53698869
GRCh38: 16:53664957-53664957
50 RPGRIP1L NM_015272.5(RPGRIP1L):c.1499C>A (p.Ala500Glu) SNV Uncertain significance 1029108 GRCh37: 16:53691447-53691447
GRCh38: 16:53657535-53657535

UniProtKB/Swiss-Prot genetic disease variations for Coach Syndrome 1:

72 (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 1

Search GEO for disease gene expression data for Coach Syndrome 1.

Pathways for Coach Syndrome 1

GO Terms for Coach Syndrome 1

Cellular components related to Coach Syndrome 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.4 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN3
2 cytoskeleton GO:0005856 10.13 TMEM67 TMEM216 TCTN2 TCTN1 RPGRIP1L OFD1
3 centrosome GO:0005813 10 TMEM67 RPGRIP1L OFD1 MKS1 CEP290 B9D1
4 MKS complex GO:0036038 9.96 TMEM67 TMEM231 TMEM216 TCTN2 TCTN1 MKS1
5 ciliary transition zone GO:0035869 9.93 TMEM67 TMEM237 TMEM231 TMEM216 TCTN2 TCTN1
6 ciliary basal body GO:0036064 9.88 RPGRIP1L OFD1 MKS1 CEP290 B9D1 AHI1
7 microtubule organizing center GO:0005815 9.84 RPGRIP1L OFD1 MKS1 CEP290
8 cilium GO:0005929 9.83 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 RPGRIP1L
9 centriole GO:0005814 9.78 OFD1 MKS1 CEP290 AHI1
10 ciliary membrane GO:0060170 9.77 TMEM67 TMEM231 TCTN3 TCTN2 ARL13B
11 photoreceptor connecting cilium GO:0032391 9.73 TMEM237 RPGRIP1L NPHP1 CEP290
12 motile cilium GO:0031514 9.7 OFD1 NPHP1 ARL13B
13 axoneme GO:0005930 9.69 RPGRIP1L INPP5E ARL13B
14 cell projection GO:0042995 9.58 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN2

Biological processes related to Coach Syndrome 1 according to GeneCards Suite gene sharing:

(show all 22)
# 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 cell projection organization GO:0030030 9.86 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN3
3 in utero embryonic development GO:0001701 9.83 TMEM231 TCTN1 RPGRIP1L B9D1
4 non-motile cilium assembly GO:1905515 9.77 TMEM216 RPGRIP1L MKS1 CC2D2A ARL13B
5 kidney development GO:0001822 9.76 RPGRIP1L CPLANE1 CC2D2A
6 determination of left/right symmetry GO:0007368 9.76 RPGRIP1L MKS1 CC2D2A ARL13B
7 camera-type eye development GO:0043010 9.73 TMEM231 RPGRIP1L CC2D2A B9D1
8 smoothened signaling pathway GO:0007224 9.73 TMEM231 TCTN3 TCTN2 CC2D2A B9D1 ARL13B
9 embryonic digit morphogenesis GO:0042733 9.71 TMEM231 MKS1 CPLANE1 B9D1
10 regulation of smoothened signaling pathway GO:0008589 9.65 TCTN1 RPGRIP1L MKS1
11 protein localization to ciliary transition zone GO:1904491 9.62 TCTN2 TCTN1 CPLANE1 CC2D2A
12 telencephalon development GO:0021537 9.61 TCTN1 RPGRIP1L
13 vasculature development GO:0001944 9.6 TMEM231 B9D1
14 motile cilium assembly GO:0044458 9.59 MKS1 CC2D2A
15 hindbrain development GO:0030902 9.58 CEP290 AHI1
16 head development GO:0060322 9.57 RPGRIP1L MKS1
17 establishment of planar polarity GO:0001736 9.56 RPGRIP1L CPLANE1
18 embryonic brain development GO:1990403 9.55 MKS1 CC2D2A
19 cilium assembly GO:0060271 9.55 TMEM67 TMEM237 TMEM231 TMEM216 TMEM138 TCTN3
20 left/right axis specification GO:0070986 9.54 ARL13B AHI1
21 neuroepithelial cell differentiation GO:0060563 9.51 TMEM231 B9D1
22 neural tube patterning GO:0021532 9.49 RPGRIP1L ARL13B

Sources for Coach Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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