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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: Atrial Septal Defect with Atrioventricular Conduction Defects (C566238)
Parent Node: Atrioventricular Block (D054537)
Parent Node: Diseases (C)
..Starting node ..ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
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:

1031

Name:

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

Definition:

Alternative IDs:

ParentIDs:

MESH:C566238|MESH:D054537

TreeNumbers:

C14.240.400.560.375/C566238/108900 |C14.280.067.558.230/108900 |C14.280.067.558/C566238/108900 |C14.280.400.560.375/C566238/108900 |C16.131.240.400.560.375/C566238/108900 |C23.550.073.425.062/108900 |C23.550.073.425/C566238/108900

Synonyms:

ASD7 |ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Pathology (process)

Reference:

MedGen: 108900
MeSH: 108900
OMIM: 108900;

Genes: NKX2-5;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005110	Atrial fibrillation
3	HP:0001712	Left ventricular hypertrophy	HP:0040283
4	HP:0012248	Prolonged PR interval
5	HP:0004935	Pulmonary artery atresia	HP:0040283
6	HP:0001684	Secundum atrial septal defect
7	HP:0001682	Subvalvular aortic stenosis	HP:0040283
8	HP:0001636	Tetralogy of Fallot	HP:0040283
9	HP:0001629	Ventricular septal defect	HP:0040283

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_004387.3(NKX2-5):c.896A>G (p.Asp299Gly)	1482	NKX2-5	Pathogenic	137852683	RCV000009579; RCV000009580;	N	MedGen:C1833590; MedGen:C1862388,OMIM:108900	5	172659651	172659651	NM_004387.3:c.896A>G	NP_004378.1:p.Asp299Gly	NC_000005.9:g.172659651T>C	OMIM Allelic Variant:600584.0011	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects; C1833590 Atrioventricular septal defect, somatic
NM_004387.3(NKX2-5):c.768T>A (p.Tyr256Ter)	1482	NKX2-5	Pathogenic	104893907	RCV000009583;	N	MedGen:C1862388,OMIM:108900	5	172659779	172659779	NM_004387.3:c.768T>A	NP_004378.1:p.Tyr256Ter	NC_000005.9:g.172659779A>T	OMIM Allelic Variant:600584.0014	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.721_728delTACGGCGT (p.Tyr241Glyfs)	1482	NKX2-5	Pathogenic	587782930	RCV000144178;	N	MedGen:C1862388,OMIM:108900	5	172659819	172659826	NM_004387.3:c.721_728delTACGGCGT	NP_004378.1:p.Tyr241Glyfs	NC_000005.9:g.172659819_172659826delACGCCGTA	-	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.618delG (p.Leu207Cysfs)	1482	NKX2-5	Pathogenic	587782929	RCV000144177;	N	MedGen:C1862388,OMIM:108900	5	172659929	172659929	NM_004387.3:c.618delG	NP_004378.1:p.Leu207Cysfs	NC_000005.9:g.172659929delC	-	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.592C>T (p.Gln198Ter)	1482	NKX2-5	Pathogenic	104893903	RCV000009570;	N	MedGen:C1862388,OMIM:108900	5	172659955	172659955	NM_004387.3:c.592C>T	NP_004378.1:p.Gln198Ter	NC_000005.9:g.172659955G>A	OMIM Allelic Variant:600584.0003	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.568C>T (p.Arg190Cys)	1482	NKX2-5	Pathogenic	104893906	RCV000009582;	N	MedGen:C1862388,OMIM:108900	5	172659979	172659979	NM_004387.3:c.568C>T	NP_004378.1:p.Arg190Cys	NC_000005.9:g.172659979G>A	OMIM Allelic Variant:600584.0013	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.543G>C (p.Gln181His)	1482	NKX2-5	Likely pathogenic	72554028	RCV000030338;	N	MedGen:C1862388,OMIM:108900	5	172660004	172660004	NM_004387.3:c.543G>C	NP_004378.1:p.Gln181His	NC_000005.9:g.172660004C>G,NC_000005.9:g.172660004C>T	-	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.533C>T (p.Thr178Met)	1482	NKX2-5	Pathogenic	104893900	RCV000009568;	N	MedGen:C1862388,OMIM:108900	5	172660014	172660014	NM_004387.3:c.533C>T	NP_004378.1:p.Thr178Met	NC_000005.9:g.172660014G>A	OMIM Allelic Variant:600584.0001	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.508C>T (p.Gln170Ter)	1482	NKX2-5	Pathogenic	104893901	RCV000009569;	N	MedGen:C1862388,OMIM:108900	5	172660039	172660039	NM_004387.3:c.508C>T	NP_004378.1:p.Gln170Ter	NC_000005.9:g.172660039G>A	OMIM Allelic Variant:600584.0002	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.461A>G (p.Glu154Gly)	1482	NKX2-5	Pathogenic	587782928	RCV000144176;	N	MedGen:C1862388,OMIM:108900	5	172660086	172660086	NM_004387.3:c.461A>G	NP_004378.1:p.Glu154Gly	NC_000005.9:g.172660086T>C	-	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.380C>A (p.Ala127Glu)	1482	NKX2-5	Pathogenic	387906774	RCV000023021;	N	MedGen:C1862388,OMIM:108900	5	172660167	172660167	NM_004387.3:c.380C>A	NP_004378.1:p.Ala127Glu	NC_000005.9:g.172660167G>T	OMIM Allelic Variant:600584.0019	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.262delG (p.Ala88Profs)	1482	NKX2-5	Pathogenic	606231360	RCV000009581;	N	MedGen:C1862388,OMIM:108900	5	172661825	172661825	NM_004387.3:c.262delG	NP_004378.1:p.Ala88Profs	NC_000005.9:g.172661825delC	OMIM Allelic Variant:600584.0012	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.237G>A (p.Pro79=)	1482	NKX2-5	Likely benign	72554029	RCV000030335;	N	MedGen:C1862388,OMIM:108900	5	172661850	172661850	NM_004387.3:c.237G>A	NP_004378.1:p.Pro79=	NC_000005.9:g.172661850C>G,NC_000005.9:g.172661850C>T	-	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.237G>C (p.Pro79=)	1482	NKX2-5	Likely benign	72554029	RCV000030336;	N	MedGen:C1862388,OMIM:108900	5	172661850	172661850	NM_004387.3:c.237G>C	NP_004378.1:p.Pro79=	NC_000005.9:g.172661850C>G,NC_000005.9:g.172661850C>T	-	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.228_229delGC (p.Pro77Phefs)	1482	NKX2-5	Pathogenic	606231359	RCV000009578;	N	MedGen:C1862388,OMIM:108900	5	172661858	172661859	NM_004387.3:c.228_229delGC	NP_004378.1:p.Pro77Phefs	NC_000005.9:g.172661858_172661859delGC	OMIM Allelic Variant:600584.0010	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.215_221delAGCTGGG (p.Glu72Alafs)	1482	NKX2-5	Pathogenic	606231358	RCV000009577;	N	MedGen:C1862388,OMIM:108900	5	172661866	172661872	NM_004387.3:c.215_221delAGCTGGG	NP_004378.1:p.Glu72Alafs	NC_000005.9:g.172661866_172661872delCCCAGCT	OMIM Allelic Variant:600584.0009	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects
NM_004387.3(NKX2-5):c.73C>T (p.Arg25Cys)	1482	NKX2-5	Benign;Likely benign;Pathogenic	28936670	RCV000009572; RCV000206285; RCV000009573; RCV000023019; RCV000023017; RCV000023018; RCV000030339; RCV000171008; RCV000037968; RCV000146755;	N	Human Phenotype Ontology:HP:0001660,MedGen:CN001511; MedGen:C0039685,OMIM:187500,ORPHA:3303,SNOMED CT:86299006; MedGen:C0152021,SNOMED CT:13213009; MedGen:C0152419; MedGen:C1862388,OMIM:108900; MedGen:C2673630,OMIM:225250; MedGen:C3280795,OMIM:614435; MedGen:C	5	172662014	172662014	NM_004387.3:c.73C>T	NP_004378.1:p.Arg25Cys	NC_000005.9:g.172662014G>A	OMIM Allelic Variant:600584.0004	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects; C0152021 Congenital heart disease; C3280795 614435 Hypoplastic left heart syndrome 2; C2673630 225250 Hypothyroidism, congenital, nongoitrous, 5; C0152419 Inter
NM_004387.3(NKX2-5):c.44A>T (p.Lys15Ile)	1482	NKX2-5	Pathogenic	387906773	RCV000023020;	N	MedGen:C1862388,OMIM:108900	5	172662043	172662043	NM_004387.3:c.44A>T	NP_004378.1:p.Lys15Ile	NC_000005.9:g.172662043T>A	OMIM Allelic Variant:600584.0018	C1862388 108900 Atrial septal defect 7 with or without atrioventricular conduction defects