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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: Axenfeld-Rieger syndrome (C535679)
Parent Node: Diseases (C)
..Starting node ..AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Child Nodes:
Sister Nodes:
..AARSKOG SYNDROME, AUTOSOMAL DOMINANT (OMIM:100050)
..ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE (OMIM:201250)
..Animal Diseases (D000820) 139
..AORTIC VALVE DISEASE 1 (OMIM:109730)
..ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
..AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
..AXENFELD-RIEGER SYNDROME, TYPE 2 (OMIM:601499)
..AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
..Bacterial Infections and Mycoses (D001423) 620
..BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..BRACHYDACTYLY, TYPE E1 (OMIM:113300)
..BRACHYDACTYLY-MENTAL RETARDATION SYNDROME (OMIM:600430)
..CAPILLARY MALFORMATIONS, CONGENITAL (OMIM:163000)
..Cardiovascular Diseases (D002318) 1025
..CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
..Chemically-Induced Disorders (D064419) 111
..CHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..CHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230)
..Congenital, Hereditary, and Neonatal Diseases and Abnormalities (D009358) 4904
..CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
..COUSIN SYNDROME (OMIM:260660)
..CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
..CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
..D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
..DEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
..DEAFNESS, AUTOSOMAL RECESSIVE 8 (OMIM:601072)
..Digestive System Diseases (D004066) 640
..Disorders of Environmental Origin (D007280) 4
..ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
..ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE (OMIM:225100)
..EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
..Endocrine System Diseases (D004700) 742
..Eye Diseases (D005128) 1278
..Female Urogenital Diseases and Pregnancy Complications (D005261) 962
..FRONTONASAL DYSPLASIA 1 (OMIM:136760)
..FRONTONASAL DYSPLASIA 2 (OMIM:613451)
..FRONTONASAL DYSPLASIA 3 (OMIM:613456)
..GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
..GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
..GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS (OMIM:138800)
..GREENBERG DYSPLASIA (OMIM:215140)
..Hemic and Lymphatic Diseases (D006425) 790
..HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
..HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
..HYPOTRICHOSIS 2 (OMIM:146520)
..ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 (OMIM:602400)
..Immune System Diseases (D007154) 597
..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
..KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
..LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
..Male Urogenital Diseases (D052801) 765
..MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME (OMIM:277000)
..MEGALOBLASTIC ANEMIA 1 (OMIM:261100)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
..Mental Disorders (D001523) 1080
..METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
..MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
..MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
..MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..Musculoskeletal Diseases (D009140) 2320
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1 (OMIM:607949)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2 (OMIM:611046)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3 (OMIM:612929)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED (OMIM:300259)
..MYOPATHY, SPHEROID BODY (OMIM:182920)
..Neoplasms (D009369) 1125
..Nervous System Diseases (D009422) 3641
..NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
..NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A (OMIM:310500)
..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B (OMIM:257270)
..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C (OMIM:613216)
..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A (OMIM:300071)
..NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR (OMIM:607721)
..NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
..Nutritional and Metabolic Diseases (D009750) 1518
..Occupational Diseases (D009784) 28
..Otorhinolaryngologic Diseases (D010038) 602
..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (OMIM:215150)
..PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL (OMIM:613000)
..Parasitic Diseases (D010272) 178
..Pathological Conditions, Signs and Symptoms (D013568) 3149
..POLYDACTYLY, PREAXIAL II (OMIM:174500)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
..PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
..PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
..RENAL TUBULAR DYSGENESIS (OMIM:267430)
..Respiratory Tract Diseases (D012140) 422
..SCAPULOPERONEAL MYOPATHY, MYH7-RELATED (OMIM:181430)
..SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
..Skin and Connective Tissue Diseases (D017437) 1491
..SPLIT-HAND/FOOT MALFORMATION 2 (OMIM:313350)
..SPLIT-HAND/FOOT MALFORMATION 3 (OMIM:246560)
..SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
..SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
..SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
..SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
..SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
..Stomatognathic Diseases (D009057) 594
..THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
..VAN DER WOUDE SYNDROME 1, MODIFIER OF (OMIM:604547)
..VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
..VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (OMIM:611938)
..VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
..Virus Diseases (D014777) 307
..VISCERAL MYOPATHY (OMIM:155310)
..WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
..Wounds and Injuries (D014947) 274
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1110

Name:

AXENFELD-RIEGER SYNDROME, TYPE 3

Definition:

Alternative IDs:

ParentIDs:

MESH:C535679

TreeNumbers:

C11.250/C535679/602482 |C16.131.384/C535679/602482

Synonyms:

Slim Mappings:

Congenital abnormality|Eye disease

Reference:

MedGen: 602482
MeSH: 602482
OMIM: 602482;

Genes: FOXC1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001631	Atrial septal defect
3	HP:0001320	Cerebellar vermis hypoplasia
4	HP:0011120	Concave nasal ridge
5	HP:0009918	Ectopia pupillae
6	HP:0000501	Glaucoma
7	HP:0001425	Heterogeneous
8	HP:0000316	Hypertelorism
9	HP:0000668	Hypodontia
10	HP:0007676	Hypoplasia of the iris
11	HP:0000272	Malar flattening
12	HP:0000691	Microdontia
13	HP:0011800	Midface retrusion
14	HP:0001643	Patent ductus arteriosus
15	HP:0000627	Posterior embryotoxon
16	HP:0000520	Proptosis
17	HP:0000407	Sensorineural hearing impairment

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_001453.2(FOXC1):c.67C>T (p.Gln23Ter)	2296	FOXC1	Pathogenic	104893952	RCV000008973;	N	MedGen:C2678503,OMIM:602482	6	1610747	1610747	NM_001453.2:c.67C>T	NP_001444.2:p.Gln23Ter	NC_000006.11:g.1610747C>T	OMIM Allelic Variant:601090.0005	C2678503 602482 Axenfeld-Rieger syndrome type 3
NM_001453.2(FOXC1):c.245G>C (p.Ser82Thr)	2296	FOXC1	Pathogenic	104893953	RCV000008978;	N	MedGen:C2678503,OMIM:602482	6	1610925	1610925	NM_001453.2:c.245G>C	NP_001444.2:p.Ser82Thr	NC_000006.11:g.1610925G>C	OMIM Allelic Variant:601090.0008	C2678503 602482 Axenfeld-Rieger syndrome type 3
NM_001453.2(FOXC1):c.335T>C (p.Phe112Ser)	2296	FOXC1	Pathogenic	104893951	RCV000008972; RCV000008970; RCV000008971;	N	MedGen:C0266548,ORPHA:98978; MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003; MedGen:C2678503,OMIM:602482	6	1611015	1611015	NM_001453.2:c.335T>C	NP_001444.2:p.Phe112Ser	NC_000006.11:g.1611015T>C	OMIM Allelic Variant:601090.0004	C0266548 Axenfeld anomaly; C2678503 602482 Axenfeld-Rieger syndrome type 3; C0344559 604229 Irido-corneo-trabecular dysgenesis
NM_001453.2(FOXC1):c.358C>T (p.Gln120Ter)	2296	FOXC1	Pathogenic	121909339	RCV000008982; RCV000008981;	N	MedGen:C0344559,OMIM:604229,ORPHA:708,SNOMED CT:204153003; MedGen:C2678503,OMIM:602482	6	1611038	1611038	NM_001453.2:c.358C>T	NP_001444.2:p.Gln120Ter	NC_000006.11:g.1611038C>T	OMIM Allelic Variant:601090.0011	C2678503 602482 Axenfeld-Rieger syndrome type 3; C0344559 604229 Irido-corneo-trabecular dysgenesis
NM_001453.2(FOXC1):c.388C>T (p.Leu130Phe)	2296	FOXC1	Pathogenic;Uncertain significance	121909338	RCV000008980; RCV000173256;	N	MedGen:C2678503,OMIM:602482; MedGen:CN221809	6	1611068	1611068	NM_001453.2:c.388C>T	NP_001444.2:p.Leu130Phe	NC_000006.11:g.1611068C>T	OMIM Allelic Variant:601090.0010	C2678503 602482 Axenfeld-Rieger syndrome type 3; CN221809 not provided
NM_001453.2(FOXC1):c.392C>T (p.Ser131Leu)	2296	FOXC1	Pathogenic	104893957	RCV000008968;	N	MedGen:C2678503,OMIM:602482	6	1611072	1611072	NM_001453.2:c.392C>T	NP_001444.2:p.Ser131Leu	NC_000006.11:g.1611072C>T	OMIM Allelic Variant:601090.0002	C2678503 602482 Axenfeld-Rieger syndrome type 3