MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
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Dwarfism (D004392)
Parent Node:
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Genetic Diseases, X-Linked (D040181)
Parent Node:
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Hand Deformities, Congenital (D006228)
Parent Node:
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Heart Defects, Congenital (D006330)
..Starting node
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Aarskog Syndrome (C535331)

       Child Nodes:
........expandAARSKOG SYNDROME, AUTOSOMAL DOMINANT (OMIM:100050)



 Sister Nodes: 
..expand22q11 Deletion Syndrome (D058165) Child5
..expandAarskog Syndrome (C535331) Child1
..expandAl Gazali Aziz Salem syndrome (C535613)
..expandAlagille Syndrome (D016738)
..expandAmastia, Bilateral, With Ureteral Triplication And Dysmorphism (C566295)
..expandAortic Coarctation (D001017) Child3
..expandAortic Valve Disease 1 (C563178) Child1
..expandAplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts (C566997)
..expandArrhythmogenic Right Ventricular Dysplasia (D019571) Child13
..expandArterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..expandBaetz-Greenwalt syndrome (C537795)
..expandBarth Syndrome (D056889) Child2  LSDB  L: 00399;
..expandBEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..expandBeemer Ertbruggen syndrome (C537668)
..expandBixler Christian Gorlin syndrome (C537632)
..expandBlepharophimosis syndrome Ohdo type (C536232)
..expandBonneau Syndrome (C564875)
..expandBurn-Mckeown syndrome (C537411)
..expandCardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..expandCardiac Valvular Defect, Developmental (C565882)
..expandCardiac valvular dysplasia, X-linked (C535576)
..expandCardioauditory syndrome of Sanchez Cascos (C535577)
..expandCardiocranial syndrome (C535578)
..expandCardiofaciocutaneous syndrome (C535579)
..expandChromosome 1q21.1 Duplication Syndrome (C567290)
..expandChromosome 6pter-P24 Deletion Syndrome (C567239)
..expandCleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..expandCONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
..expandCONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
..expandCONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 (OMIM:614980)
..expandCONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 (OMIM:615779)
..expandCongenital Heart Defects, X-Linked (C567444)
..expandConotruncal cardiac defects (C535464) Child1
..expandCor Triatriatum (D003310)
..expandCoronary Vessel Anomalies (D003330) Child3
..expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..expandCranioacrofacial Syndrome (C565147)
..expandCraniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..expandCraniofaciofrontodigital Syndrome (C567298)
..expandCrisscross Heart (D003420)
..expandDeafness, Congenital Heart Defects, and Posterior Embryotoxon (C566604)
..expandDextrocardia (D003914) Child10
..expandDistichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
..expandDuctus Arteriosus, Patent (D004374) Child6
..expandEbstein Anomaly (D004437)
..expandEctopia Cordis (D054083)
..expandEctrodactyly cardiopathy dysmorphism (C536187)
..expandEctrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..expandEisenmenger Complex (D004541)
..expandEllis Yale Winter syndrome (C536205)
..expandEmanuel syndrome (C535733)
..expandFaciocardiomelic Dysplasia, Lethal (C565578)
..expandFaciocardiomelic Syndrome (C567176)
..expandFaciocardiorenal syndrome (C536388)
..expandFamilial anomalous origin of right pulmonary artery (C535681)
..expandFragile Site 16p12 (C565001)
..expandFrontoocular Syndrome (C565340)
..expandGay Feinmesser Cohen syndrome (C537676)
..expandGenito palato cardiac syndrome (C537683)
..expandGrowth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia (C565755)
..expandHeart defects limb shortening (C535850)
..expandHEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
..expandHeart Septal Defects (D006343) Child47
..expandHeart-hand syndrome, Slovenian type (C535852)
..expandHeart-hand syndrome, Spanish type (C535853)
..expandHecht Scott syndrome (C535856)
..expandHeterotaxy Syndrome (D059446) Child7
..expandHirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..expandHirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (C563939)
..expandHittner Hirsch Kreh syndrome (C538323)
..expandHo Kaufman Mcalister syndrome (C538325)
..expandHolt-Oram syndrome (C535326)
..expandHolzgreve Wagner Rehder syndrome (C535327)
..expandHydrolethalus syndrome (C536079)
..expandHypoplastic Left Heart Syndrome (D018636)
..expandIsolated Noncompaction of the Ventricular Myocardium (D056830) Child5
..expandKasznica Carlson Coppedge syndrome (C537011)
..expandKleefstra Syndrome (C563043)
..expandLEOPARD Syndrome (D044542) Child2
..expandLevocardia (D007979)
..expandLong QT Syndrome (D008133) Child20
..expandLowry Maclean syndrome (C537037)
..expandMalpuech facial clefting syndrome (C535704)
..expandMarcus Gunn phenomenon (C535908)
..expandMarfan Syndrome (D008382) Child9
..expandMcDonough syndrome (C538158)
..expandMcKusick Kaufman syndrome (C538159)
..expandMcPherson Clemens syndrome (C538160)
..expandMehta Lewis Patton syndrome (C536147)
..expandMENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
..expandMexican Cardiomelic Dysplasia (C563087)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..expandMULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
..expandNEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
..expandNoncompaction of Left Ventricular Myocardium with Congenital Heart Defects (C564690)
..expandNoonan Syndrome (D009634) Child12
..expandOrstavik Lindemann Solberg syndrome (C537137)
..expandPancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease (C564011)
..expandPilotto syndrome (C537400)
..expandPowell Chandra Saal syndrome (C538357)
..expandPseudodiastrophic dysplasia (C535826)
..expandPulmonary Atresia with Intact Ventricular Septum (C562832)
..expandRight ventricle hypoplasia (C535682)
..expandRommen Mueller Sybert syndrome (C535871)
..expandSaal Bulas syndrome (C537193)
..expandSacral meningocele conotruncal heart defects (C537223)
..expandScimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
..expandShort QT Syndrome 1 (C566506)
..expandShort QT Syndrome 2 (C566505)
..expandShort QT Syndrome 3 (C566504)
..expandSimpson-Golabi-Behmel syndrome (C537340)
..expandSonoda syndrome (C536680)
..expandSteinfeld Syndrome (C566655)
..expandStratton-Parker Syndrome (C566105)
..expandSubaortic Stenosis, Membranous (C564793)
..expandT-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
..expandTabatznik syndrome (C536784)
..expandTamari Goodman syndrome (C536896)
..expandTARP syndrome (C536942)
..expandTer Haar syndrome (C537274)
..expandTESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (OMIM:615542)
..expandTetralogy of Fallot (D013771) Child4
..expandThomas syndrome (C536514)
..expandTransposition of Great Vessels (D014188) Child5
..expandTricuspid Atresia (D018785) Child1
..expandTrilogy of Fallot (D014286)
..expandTrisomy 13 Syndrome (D000073839)
..expandTrisomy 18 Syndrome (D000073842)
..expandTurner Syndrome (D014424) Child2
..expandUhl anomaly (C536932)
..expandVACTERL association (C536495)
..expandVATER association (C536534)
..expandVater Association With Hydrocephalus (C564752)
..expandVater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency (C564244)
..expandVentricular extrasystoles perodactyly Robin sequence (C536537)
..expandVerloove-Vanhorick Brubakk syndrome (C536541)
..expandWolff-Parkinson-White Syndrome (D014927)
..expandYoung Simpson syndrome (C536717)
..expandZunich neuroectodermal syndrome (C536729)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:63
Name:Aarskog Syndrome
Definition:
Alternative IDs:DO:DOID:6683|OMIM:305400
ParentIDs:MESH:D004392|MESH:D006228|MESH:D006330|MESH:D040181
TreeNumbers:C05.116.099.343/C535331 |C05.390.408/C535331 |C05.660.585.988.425/C535331 |C14.240.400/C535331 |C14.280.400/C535331 |C16.131.240.400/C535331 |C16.131.621.585.988.500/C535331 |C16.320.240/C535331 |C16.320.322/C535331 |C19.297/C535331
Synonyms:Aarskog Disease |Aarskog-Like Syndrome |Aarskog-Scott Syndrome |AARSKOG SYNDROME, X-LINKED FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER, INCLUDED |AAS |Facio-Digito-Genital Dysplasia |Faciodigitogenital Syndrome |Faciodigitogenital Synd
Slim Mappings:Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease
Reference: MedGen: C535331
MeSH: C535331
OMIM: 305400;
MSeqDR LSDB:  
Genes: EDNRB; FGD1;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0000463Anteverted nares
3 HP:0007018Attention deficit hyperactivity disorder
4 HP:0001156Brachydactyly
5 HP:0001769Broad foot
6 HP:0001169Broad palm
7 HP:0000289Broad philtrum
8 HP:0003318Cervical spine hypermobility
9 HP:0000175Cleft palate
10 HP:0000204Cleft upper lip
11 HP:0030084Clinodactyly
12 HP:0000028Cryptorchidism
13 HP:0002055Curved linear dimple below the lower lip
14 HP:0000823Delayed puberty
NAMDC:  Prolonged pubertal growth spurt
15 HP:0000494Downslanted palpebral fissures
16 HP:0001508Failure to thrive
17 HP:0001187Hyperextensibility of the finger joints
18 HP:0000540Hypermetropia
19 HP:0000316Hypertelorism
20 HP:0000668Hypodontia
21 HP:0000327Hypoplasia of the maxilla
22 HP:0003311Hypoplasia of the odontoid process
23 HP:0012774Increased upper to lower segment ratio
24 HP:0000023Inguinal hernia
25 HP:0001249Intellectual disability
26 HP:0009748Large earlobe
27 HP:0003502Mild short stature
28 HP:0000767Pectus excavatum
29 HP:0001544Prominent umbilicus
30 HP:0000508Ptosis
NAMDC:  Ptosis
31 HP:0009466Radial deviation of finger
32 HP:0000311Round face
33 HP:0002650Scoliosis
34 HP:0000049Shawl scrotum
35 HP:0001773Short foot
36 HP:0000470Short neck
37 HP:0003196Short nose
38 HP:0004279Short palm
39 HP:0000954Single transverse palmar crease
40 HP:0000486Strabismus
41 HP:0001159Syndactyly
42 HP:0000431Wide nasal bridge
43 HP:0000349Widow's peak
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004463.3(FGD1):c.2761C>T (p.Arg921Ter)2245FGD1Uncertain significancers869312743RCV000210282; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5447266754472667GAX:g.54472667G>AClinGen:CA353590
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter)2245FGD1Likely pathogenicrs1269514277RCV000659639; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5447270054472700GAX:g.54472700G>A-C0175701 305400 Aarskog syndrome;
NM_004463.3(FGD1):c.2006T>G (p.Leu669Arg)2245FGD1Uncertain significancers1557188473RCV000659638; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5448189054481890ACX:g.54481890A>C-C0175701 305400 Aarskog syndrome;
NM_004463.3(FGD1):c.1966C>T (p.Arg656Ter)2245FGD1Pathogenicrs387906718RCV000022866; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5448193054481930GAX:g.54481930G>AClinGen:CA128808,OMIM:300546.0012C0175701 305400 Aarskog syndrome;
NM_004463.3(FGD1):c.1843-1G>A2245FGD1Pathogenicrs1601950553RCV000990838; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5448221854482218CTX:g.54482218C>T-
NM_004463.3(FGD1):c.1829G>A (p.Arg610Gln)2245FGD1Pathogenicrs28935497RCV000011572|RCV000309625; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915|MedGen:CN517202X5448266654482666CTX:g.54482666C>TClinGen:CA121189,UniProtKB:P98174#VAR_015237,OMIM:300546.0002C0175701 305400 Aarskog syndrome;
NM_004463.3(FGD1):c.1811A>G (p.Asn604Ser)2245FGD1Uncertain significancers1601950673RCV000995924|RCV001262422; NMedGen:CN517202|MONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5448268454482684TCX:g.54482684T>C-
NM_004463.3(FGD1):c.1733T>C (p.Leu578Ser)2245FGD1Uncertain significancers1557188567RCV000659637; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5448276254482762AGX:g.54482762A>G-C0175701 305400 Aarskog syndrome;
NM_004463.3(FGD1):c.1695+1G>A2245FGD1Pathogenic-1RCV001199015; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5448294154482941CTX:g.54482941C>T-
NM_004463.3(FGD1):c.1590T>A (p.Tyr530Ter)2245FGD1Pathogenicrs1601953552RCV000856740; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5449193054491930ATX:g.54491930A>T-
NM_004463.3(FGD1):c.1565G>A (p.Arg522His)2245FGD1Pathogenicrs137853264RCV000011573; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5449195554491955CTX:g.54491955C>TUniProtKB:P98174#VAR_015236,OMIM:300546.0003,ClinGen:CA121190C0175701 305400 Aarskog syndrome;
NM_004463.3(FGD1):c.1452G>A (p.Trp484Ter)2245FGD1Pathogenicrs1601953661RCV000990839; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5449217454492174CTX:g.54492174C>T-
NM_004463.3(FGD1):c.1445_1447dup (p.Asn482dup)2245FGD1Uncertain significancers1557189266RCV000659635; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5449217854492179GGTGTX:g.54492178_54492179insTGT-
NM_004463.3(FGD1):c.1396A>G (p.Met466Val)2245FGD1Pathogenicrs137853267RCV000011581; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5449223054492230TCX:g.54492230T>CClinGen:CA121197,OMIM:300546.0011C0175701 305400 Aarskog syndrome;
NM_004463.3(FGD1):c.1328G>T (p.Arg443Leu)2245FGD1Pathogenicrs137853266RCV000011579; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5449422954494229CAX:g.54494229C>AClinGen:CA121195,OMIM:300546.0009C0175701 305400 Aarskog syndrome;
NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu)2245FGD1Likely pathogenicrs1557189455RCV000659634|RCV001268403; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915|MedGen:CN517202X5449431654494316GAX:g.54494316G>A-
NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln)2245FGD1Pathogenicrs137853265RCV000011577; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5449433454494334CTX:g.54494334C>TClinGen:CA121193,OMIM:300546.0007C0175701 305400 Aarskog syndrome;
NM_004463.3(FGD1):c.1143_1145del (p.Leu382del)2245FGD1Pathogenicrs1601954686RCV000856731; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5449526654495268CAGGCX:g.54495266_54495268del-
NM_004463.3(FGD1):c.1035GGA[3] (p.Glu350del)2245FGD1Uncertain significance-1RCV001198425; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5449650454496506TTCCTX:g.54496504_54496506del-
NM_004463.3(FGD1):c.944dup (p.Ala316fs)2245FGD1Pathogenicrs1569541255RCV000011580; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5449660554496606AAGX:g.54496605_54496606insGOMIM:300546.0010
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu)2245FGD1Conflicting interpretations of pathogenicityrs28935498RCV000011575|RCV000224897|RCV000604954|RCV000720983|RCV001252498; NMedGen:C3275558|MedGen:CN517202|MONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915|MedGen:C2711754|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,X5449661554496615GAX:g.54496615G>AUniProtKB:P98174#VAR_019269,OMIM:300546.0005,ClinGen:CA121191C0175701 305400 Aarskog syndrome;
NM_004463.3(FGD1):c.892dup (p.Cys298fs)2245FGD1Likely pathogenicrs1557189608RCV000577914; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5449665754496658CCAX:g.54496657_54496658insAClinGen:CA658658992
NM_004463.3(FGD1):c.679del (p.Ser227fs)2245FGD1Pathogenic-1RCV001089540; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5449687154496871GAGX:g.54496871_54496871del-
NM_004463.3(FGD1):c.598C>T (p.Pro200Ser)2245FGD1Uncertain significancers773941303RCV000660579; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5449707754497077GAX:g.54497077G>A-C0175701 305400 Aarskog syndrome;
NM_004463.3(FGD1):c.545del (p.Pro182fs)2245FGD1Pathogenic-1RCV001262443; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5449713054497130AGAX:g.54497130_54497130del-
NM_004463.3(FGD1):c.527dup (p.Leu177fs)2245FGD1Pathogenic/Likely pathogenicrs756586058RCV000177205|RCV000790801; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915|MedGen:CN517202X5449714754497148TTGX:g.54497147_54497148insGOMIM:300546.0006
NM_004463.3(FGD1):c.527del (p.Pro176fs)2245FGD1Pathogenicrs756586058RCV000415303|RCV000624698; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915|MeSH:D030342,MedGen:C0950123X5449714854497148TGTX:g.54497148_54497148delClinGen:CA10425253C0175701 305400 Aarskog syndrome;
NM_004463.3(FGD1):c.437A>G (p.Gln146Arg)2245FGD1Uncertain significancers1029761293RCV000990840; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5449779154497791TCX:g.54497791T>C-
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)2245FGD1Benign/Likely benignrs145644275RCV000081097|RCV000514781|RCV000608756|RCV000716931; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915|MedGen:C2711754X5449783354497833CTX:g.54497833C>TClinGen:CA148166C0175701 305400 Aarskog syndrome;
NM_004463.3(FGD1):c.386G>A (p.Gly129Asp)2245FGD1Uncertain significancers910374883RCV000990841; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5449784254497842CTX:g.54497842C>T-
NM_004463.3(FGD1):c.277dup (p.Tyr93fs)2245FGD1Likely pathogenicrs1557191567RCV000659633; NMONDO:MONDO:0010589,MedGen:C0175701,OMIM:305400, Orphanet:915X5452158854521589TTAX:g.54521588_54521589insA-
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