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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Ataxia (D001259)
Parent Node: Cholestasis (D002779)
Parent Node: Coloboma (D003103)
Parent Node: Liver Diseases (D008107)
..Starting node ..COACH syndrome (C536430)
Child Nodes:
Sister Nodes:
..alpha 1-Antitrypsin Deficiency (D019896) 1
..Budd-Chiari Syndrome (D006502) 1
..Carnitine Palmitoyltransferase II Deficiency, Infantile (C563462)
..Cholestasis, Intrahepatic (D002780) 14
..COACH syndrome (C536430)
..Congenital Hepatic Fibrosis (C580013)
..Cyanosis and Hepatic Disease (C565660)
..Drug-Induced Liver Injury (D056486) 2
..Fatty Liver (D005234) 6
..Focal Nodular Hyperplasia (D020518)
..Glycogen Storage Disease 0, Liver (C565485)
..GSD IV, Nonprogressive Hepatic (C565540)
..Hepatic Insufficiency (D048550) 9
..Hepatic Veno-Occlusive Disease (D006504) 1
..Hepatitis (D006505) 17
..Hepatolenticular Degeneration (D006527) 2
..Hepatomegaly (D006529) 4
..Hepatopulmonary Syndrome (D020065)
..Hepatorenal Syndrome (D006530)
..Hypertension, Portal (D006975) 3
..Liver Abscess (D008100) 2
..Liver Cirrhosis (D008103) 16
..Liver Diseases, Alcoholic (D008108) 3
..Liver Diseases, Parasitic (D008109) 5
..Liver Fibrocystic Disease and Polydactyly (C565272)
..Liver Neoplasms (D008113) 8
..Navajo neurohepatopathy (C538344) 1
..Peliosis Hepatis (D010382)
..Phosphoenolpyruvate carboxykinase deficiency (C536654)
..Polycystic liver disease (C536330)
..Porphyrias, Hepatic (D017094) 14
..RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
..Retinohepatoendocrinologic Syndrome (C564839)
..Tuberculosis, Hepatic (D014386)
..Zellweger Syndrome (D015211) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2446

Name:

COACH syndrome

Definition:

Alternative IDs:

OMIM:216360

ParentIDs:

MESH:D000015|MESH:D001259|MESH:D002779|MESH:D003103|MESH:D008107

TreeNumbers:

C06.130.120.135/C536430 |C06.552/C536430 |C10.597.350.090/C536430 |C11.250.110/C536430 |C16.131.077/C536430 |C16.131.384.282/C536430 |C23.888.592.350.090/C536430

Synonyms:

Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis |Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis |JOUBERT SYNDROME WITH CONGENITAL HEPATIC FIBROSIS

Slim Mappings:

Congenital abnormality|Digestive system disease|Eye disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C536430
MeSH: C536430
OMIM: 216360;

Genes: CC2D2A; RPGRIP1L; TMEM67;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001438	Abnormal abdomen morphology
4	HP:0000463	Anteverted nares
5	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
6	HP:0001251	Ataxia
7	HP:0001320	Cerebellar vermis hypoplasia
8	HP:0001394	Cirrhosis
9	HP:0000589	Coloboma
10	HP:0002910	Elevated hepatic transaminase
11	HP:0001290	Generalized hypotonia
12	HP:0001263	Global developmental delay
13	HP:0001510	Growth delay
14	HP:0001395	Hepatic fibrosis
15	HP:0002240	Hepatomegaly
16	HP:0001425	Heterogeneous
17	HP:0001347	Hyperreflexia
18	HP:0000316	Hypertelorism
19	HP:0001252	Hypotonia
20	HP:0002342	Intellectual disability, moderate
21	HP:0002419	Molar tooth sign on MRI
22	HP:0008659	Multiple small medullary renal cysts
23	HP:0000090	Nephronophthisis
24	HP:0000639	Nystagmus
25	HP:0002085	Occipital encephalocele
26	HP:0000657	Oculomotor apraxia
27	HP:0001409	Portal hypertension
28	HP:0001162	Postaxial hand polydactyly
29	HP:0000508	Ptosis
30	HP:0000083	Renal insufficiency
31	HP:0000311	Round face
32	HP:0001250	Seizure	HP:0040283
33	HP:0001257	Spasticity
34	HP:0001744	Splenomegaly
35	HP:0000154	Wide mouth

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter)	57545	CC2D2A	Pathogenic	386833750	RCV000199602; RCV000000783; RCV000023922;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1857662,OMIM:216360,ORPHA:1454; MedGen:CN121474	4	15565108	15565108	NM_001080522.2:c.3145C>T	NP_001073991.2:p.Arg1049Ter	NC_000004.11:g.15565108C>G,NC_000004.11:g.15565108C>T	OMIM Allelic Variant:612013.0007	C1857662 216360 COACH syndrome; C0431399 213300 Familial aplasia of the vermis; CN121474 Joubert syndrome 9/15, digenic
NM_001080522.2(CC2D2A):c.3347C>T (p.Thr1116Met)	57545	CC2D2A	Pathogenic	267606709	RCV000201781; RCV000000784;	N	MedGen:C1857662,OMIM:216360,ORPHA:1454; MedGen:C2676788,OMIM:612285	4	15569358	15569358	NM_001080522.2:c.3347C>T	NP_001073991.2:p.Thr1116Met	NC_000004.11:g.15569358C>T	OMIM Allelic Variant:612013.0008	C1857662 216360 COACH syndrome; C2676788 612285 Joubert syndrome 9
NM_015272.3(RPGRIP1L):c.2413C>T (p.Arg805Ter)	23322	RPGRIP1L	Pathogenic	145665129	RCV000001134; RCV000201645;	N	MedGen:C1857662,OMIM:216360,ORPHA:1454; MedGen:C1969053,OMIM:611560	16	53679807	53679807	NM_015272.3:c.2413C>T	NP_056087.2:p.Arg805Ter	NC_000016.9:g.53679807G>A	OMIM Allelic Variant:610937.0011	C1857662 216360 COACH syndrome; C1969053 611560 Joubert syndrome 7
NM_015272.3(RPGRIP1L):c.1975T>C (p.Ser659Pro)	23322	RPGRIP1L	Pathogenic	267607020	RCV000001135; RCV000201757;	N	MedGen:C1857662,OMIM:216360,ORPHA:1454; MedGen:C1969053,OMIM:611560	16	53686624	53686624	NM_015272.3:c.1975T>C	NP_056087.2:p.Ser659Pro	NC_000016.9:g.53686624A>G	OMIM Allelic Variant:610937.0012	C1857662 216360 COACH syndrome; C1969053 611560 Joubert syndrome 7
NM_153704.5(TMEM67):c.312+5G>A	91147	TMEM67	Pathogenic	786200868	RCV000001448;	N	MedGen:C1857662,OMIM:216360,ORPHA:1454	8	94768099	94768099	NM_153704.5:c.312+5G>A		NC_000008.10:g.94768099G>A	OMIM Allelic Variant:609884.0015	C1857662 216360 COACH syndrome
NM_153704.5(TMEM67):c.1538A>G (p.Tyr513Cys)	91147	TMEM67	Pathogenic	137853107	RCV000001437; RCV000001436;	N	MedGen:C1853153,OMIM:610688; MedGen:C1857662,OMIM:216360,ORPHA:1454	8	94803510	94803510	NM_153704.5:c.1538A>G	NP_714915.3:p.Tyr513Cys	NC_000008.10:g.94803510A>G	OMIM Allelic Variant:609884.0006	C1857662 216360 COACH syndrome; C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.1769T>C (p.Phe590Ser)	91147	TMEM67	Pathogenic	267607115	RCV000001449; RCV000201677;	N	MedGen:C1853153,OMIM:610688; MedGen:C1857662,OMIM:216360,ORPHA:1454	8	94807731	94807731	NM_153704.5:c.1769T>C	NP_714915.3:p.Phe590Ser	NC_000008.10:g.94807731T>C	OMIM Allelic Variant:609884.0016	C1857662 216360 COACH syndrome; C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.1961-2A>C	91147	TMEM67	Pathogenic	758948621	RCV000001441; RCV000201576;	N	MedGen:C1853153,OMIM:610688; MedGen:C1857662,OMIM:216360,ORPHA:1454	8	94809557	94809557	NM_153704.5:c.1961-2A>C		NC_000008.10:g.94809557A>C	OMIM Allelic Variant:609884.0017	C1857662 216360 COACH syndrome; C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.2498T>C (p.Ile833Thr)	91147	TMEM67	Pathogenic	267607119	RCV000001445; RCV000001446;	N	MedGen:C1853153,OMIM:610688; MedGen:C1857662,OMIM:216360,ORPHA:1454	8	94821126	94821126	NM_153704.5:c.2498T>C	NP_714915.3:p.Ile833Thr	NC_000008.10:g.94821126T>C	OMIM Allelic Variant:609884.0013	C1857662 216360 COACH syndrome; C1853153 610688 Joubert syndrome 6
NM_153704.5(TMEM67):c.2556+1G>T	91147	TMEM67	Pathogenic	786200867	RCV000001447; RCV000201565;	N	MedGen:C1853153,OMIM:610688; MedGen:C1857662,OMIM:216360,ORPHA:1454	8	94821185	94821185	NM_153704.5:c.2556+1G>T		NC_000008.10:g.94821185G>T	OMIM Allelic Variant:609884.0014	C1857662 216360 COACH syndrome; C1853153 610688 Joubert syndrome 6