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Adrenal Insufficiency (D000309)
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Esophageal Achalasia (D004931)
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Achalasia Addisonianism Alacrimia syndrome (C536008)

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 Sister Nodes: 
..expandAchalasia Addisonianism Alacrimia syndrome (C536008)
..expandAchalasia microcephaly (C536010)
..expandAchalasia, familial esophageal (C536011)
..expandDeafness, Congenital, with Vitiligo and Achalasia (C565642)
..expandMOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA (OMIM:615750)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:134
Name:Achalasia Addisonianism Alacrimia syndrome
Definition:
Alternative IDs:OMIM:231550
ParentIDs:MESH:D000309|MESH:D004931
TreeNumbers:C06.405.117.119.500.432/C536008 |C19.053.500/C536008
Synonyms:AAAS |Aaa Syndrome |Achalasia-Addisonianism-Alacrima Syndrome |Achalasia-Addisonian Syndrome |Achalasia-Alacrima Syndrome |Achalasia alacrimia syndrome |Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima |ACTH resistant adrenal insufficiency, achalasi
Slim Mappings:Digestive system disease|Endocrine system disease
Reference: MedGen: C536008
MeSH: C536008
OMIM: 231550;
MSeqDR LSDB:  
Genes: AAAS;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002459Dysautonomia
3 HP:0011463Childhood onset
4 HP:0000649Abnormality of visual evoked potentials
5 HP:0002571Achalasia
6 HP:0008259Adrenocorticotropin receptor defect
7 HP:0000522Alacrima
8 HP:0009916Anisocoria
9 HP:0001251Ataxia
10 HP:0003487Babinski sign
11 HP:0004319Decreased circulating aldosterone level
12 HP:0008163Decreased circulating cortisol level
13 HP:0001260Dysarthria
NAMDC:  Dysarthria
14 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
15 HP:0001263Global developmental delay
NAMDC:  Mental retardation
16 HP:0000953Hyperpigmentation of the skin
17 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
18 HP:0001249Intellectual disability
19 HP:0000252Microcephaly
20 HP:0007002Motor axonal neuropathy
21 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
22 HP:0000648Optic atrophy
23 HP:0001278Orthostatic hypotension
24 HP:0000972Palmoplantar hyperkeratosis
25 HP:0003676Progressive
26 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_015665.5(AAAS):c.*32C>T8086AAASLikely benignrs138994144RCV000285683; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370124153701241GANC_000012.11:g.53701241G>AClinGen:CA6598778C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.1597G>A (p.Gly533Arg)8086AAASBenign/Likely benignrs34451260RCV000343022|RCV000886859; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370131753701317CTNC_000012.11:g.53701317C>TClinGen:CA6598796C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.1591C>T (p.Leu531Phe)8086AAASUncertain significancers886049647RCV000391927; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370132353701323GANC_000012.11:g.53701323G>AClinGen:CA10641983C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.1566C>T (p.Ser522=)8086AAASUncertain significancers886049648RCV000284339; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370134853701348GANC_000012.11:g.53701348G>AClinGen:CA10642826C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.1557T>C (p.Thr519=)8086AAASBenign/Likely benignrs112987708RCV000346438|RCV000972502; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370135753701357AGNC_000012.11:g.53701357A>GClinGen:CA6598801C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.1515T>C (p.Pro505=)8086AAASBenign/Likely benignrs35282133RCV000404740|RCV000886860; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370139953701399AG12:g.53701399A>GClinGen:CA6598808C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.1498C>T (p.Arg500Trp)8086AAASUncertain significancers886049649RCV000306536; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370141653701416GA12:g.53701416G>AClinGen:CA6598813C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.1450C>G (p.Leu484Val)8086AAASUncertain significancers764298213RCV000363575; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370146453701464GC12:g.53701464G>CClinGen:CA6598827C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)8086AAASPathogenicrs121918548RCV000005343|RCV000255523|RCV001778647; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926125370148253701482GA12:g.53701482G>AClinGen:CA117224,OMIM:605378.0002C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.1421G>A (p.Trp474Ter)8086AAASPathogenic-1RCV001781131; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370149353701493CT53701493-
NM_015665.6(AAAS):c.1417-14T>G8086AAASUncertain significancers748004231RCV001114236; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370151153701511AC12:g.53701511A>C-
NM_015665.6(AAAS):c.1416+8C>T8086AAASUncertain significancers370325323RCV000404477; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370162153701621GA12:g.53701621G>AClinGen:CA6598848C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.1389del (p.Phe464fs)8086AAASPathogenic-1RCV001783565; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370165653701656AGA53701655-
NM_015665.6(AAAS):c.1368_1372del (p.Gln456fs)8086AAASPathogenic-1RCV001783603; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370167353701677ATGAGCA53701672-
NM_015665.6(AAAS):c.1366C>T (p.Gln456Ter)8086AAASPathogenic-1RCV001782625; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370167953701679GA53701679-
NM_015665.6(AAAS):c.1331+1G>A8086AAASPathogenicrs150511103RCV000005346|RCV000254890; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370183553701835CT12:g.53701835C>TClinGen:CA6598880,OMIM:605378.0005C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.1331+1G>T8086AAASPathogenic-1RCV001781659; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370183553701835CA53701835-
NM_015665.6(AAAS):c.1310_1311del (p.Pro437fs)8086AAASPathogenic-1RCV001785078; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370185653701857CAGC53701855-
NM_015665.6(AAAS):c.1304del (p.Asn435fs)8086AAASPathogenic-1RCV001783231; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370186353701863GTG53701862-
NM_015665.6(AAAS):c.1301G>A (p.Arg434Gln)8086AAASConflicting interpretations of pathogenicityrs112579822RCV000314857|RCV002056317; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370186653701866CT12:g.53701866C>TClinGen:CA6598892C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.1300C>T (p.Arg434Ter)8086AAASUncertain significancers751369041RCV000778368; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370186753701867GANC_000012.11:g.53701867G>A-
NM_015665.6(AAAS):c.1288C>T (p.Leu430Phe)8086AAASPathogenic/Likely pathogenicrs121918551RCV000005350; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370187953701879GA12:g.53701879G>AClinGen:CA117229,OMIM:605378.0009C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.1264_1273del (p.Gln422fs)8086AAASPathogenic-1RCV001784693; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370189453701903TTACCATCCTGT53701893-
NM_015665.6(AAAS):c.1261dup (p.Val421fs)8086AAASPathogenic-1RCV001781735; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370190553701906AAC53701905-
NM_015665.6(AAAS):c.1249+8G>A8086AAASConflicting interpretations of pathogenicityrs200834285RCV000366879|RCV000888966; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370205853702058CT12:g.53702058C>TClinGen:CA6598921C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.1244T>C (p.Met415Thr)8086AAASUncertain significancers200871966RCV000274630|RCV001859850; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370207153702071AG12:g.53702071A>GClinGen:CA6598925C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.1229G>A (p.Arg410His)8086AAASUncertain significancers768786904RCV001114237; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370208653702086CT12:g.53702086C>T-
NM_015665.6(AAAS):c.1191dup (p.Glu398fs)8086AAASPathogenicrs746305979RCV000494064|RCV001782989; NMedGen:CN517202|MONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370212353702124CCT12:g.53702123_53702124insTClinGen:CA6598932CN517202 not provided;
NM_015665.6(AAAS):c.1190del (p.Gly397fs)8086AAASPathogenic-1RCV001783637; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370212553702125TCT53702124-
NM_015665.6(AAAS):c.1159C>T (p.Gln387Ter)8086AAASPathogenicrs763820204RCV000255961|RCV001782750; NMedGen:CN517202|MONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370224153702241GA12:g.53702241G>AClinGen:CA6598959CN517202 not provided;
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs)8086AAASPathogenic/Likely pathogenicrs770214071RCV000255826|RCV000778369; NMedGen:CN517202|MONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370225353702256TCAGAT12:g.53702253_53702256delClinGen:CA6598962CN517202 not provided;
NM_015665.6(AAAS):c.1142T>G (p.Leu381Arg)8086AAASLikely pathogenic-1RCV001785164; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370225853702258AC53702258-
NM_015665.6(AAAS):c.1104dup (p.Val369fs)8086AAASPathogenic-1RCV001785010; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370229553702296CCG53702295-
NM_015665.6(AAAS):c.1101del (p.Cys368fs)8086AAASPathogenic-1RCV001782052; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370229953702299ACA53702298-
NM_015665.6(AAAS):c.1088-59A>G8086AAASBenign-1RCV001544470|RCV001615286; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370237153702371TC53702371-
NM_015665.6(AAAS):c.1087+1G>A8086AAASPathogenicrs1035139364RCV000005349; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370250853702508CT12:g.53702508C>TClinGen:CA237331147,OMIM:605378.0008C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.1070C>T (p.Ser357Phe)8086AAASConflicting interpretations of pathogenicityrs368094339RCV000981492|RCV001110208; NMedGen:CN517202|MONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370252653702526GA12:g.53702526G>A-
NM_015665.6(AAAS):c.1066_1067del (p.Leu356fs)8086AAASPathogenicrs763216820RCV000255286|RCV001782751; NMedGen:CN517202|MONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370252953702530CAGC12:g.53702529_53702530delClinGen:CA6599003CN517202 not provided;
NM_015665.6(AAAS):c.1061_1062dup (p.Ser355fs)8086AAASPathogenic-1RCV001783353; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370253353702534AAGT53702533-
NM_015665.6(AAAS):c.1058T>C (p.Ile353Thr)8086AAASUncertain significancers765757844RCV000254739|RCV001263462; NMedGen:CN517202|MONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370253853702538AG12:g.53702538A>GClinGen:CA6599005CN169374 not specified;
NM_015665.6(AAAS):c.1024C>T (p.Arg342Ter)8086AAASPathogenic-1RCV001785045; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370257253702572GA53702572-
NM_015665.6(AAAS):c.996+12C>T8086AAASUncertain significancers200312077RCV000317951|RCV001805011; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370273253702732GA12:g.53702732G>AClinGen:CA6599029C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.988C>T (p.Arg330Cys)8086AAASUncertain significancers560069464RCV001110209; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370275253702752GA12:g.53702752G>A-
NM_015665.6(AAAS):c.980dup (p.Ser328fs)8086AAASPathogenicrs387906326RCV000005344; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370275953702760TTA12:g.53702759_53702760insAClinGen:CA117226,OMIM:605378.0003C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.981A>G (p.Leu327=)8086AAASUncertain significancers1174765635RCV001110210; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370275953702759TC12:g.53702759T>C-
NM_015665.6(AAAS):c.939C>T (p.Val313=)8086AAASConflicting interpretations of pathogenicityrs79881935RCV000356418|RCV002056318; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370280153702801GANC_000012.11:g.53702801G>AClinGen:CA6599041C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.938T>C (p.Val313Ala)8086AAASPathogenicrs773601814RCV000184015; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370280253702802AGNC_000012.11:g.53702802A>GClinGen:CA203842C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.936_937del (p.Val313Leufs)8086AAASLikely pathogenicrs1592513048RCV000791173; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370280353702804ACTA12:g.53702803_53702804del-
NM_015665.6(AAAS):c.936-2A>G8086AAASUncertain significancers1565777639RCV000778370; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370280653702806TCNC_000012.11:g.53702806T>C-
NM_015665.6(AAAS):c.936-5C>T8086AAASUncertain significancers1944343648RCV001110211; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370280953702809GA12:g.53702809G>A-
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter)8086AAASPathogenicrs121918547RCV000005342; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370294253702942GA12:g.53702942G>AClinGen:CA117222,OMIM:605378.0001C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.928_931del (p.Val310fs)8086AAASPathogenic-1RCV001784732; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370294553702948AAGACA53702944-
NM_015665.6(AAAS):c.922del (p.Ser308fs)8086AAASPathogenic-1RCV001784759; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370295453702954GAG53702953-
NM_015665.6(AAAS):c.912T>G (p.Ala304=)8086AAASConflicting interpretations of pathogenicityrs138749872RCV000259399|RCV000966397; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370296453702964ACNC_000012.11:g.53702964A>CClinGen:CA6599060C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.901A>T (p.Lys301Ter)8086AAASPathogenic-1RCV001784889; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370297553702975TA53702975-
NM_015665.6(AAAS):c.894C>T (p.Asp298=)8086AAASConflicting interpretations of pathogenicityrs199636211RCV000316949|RCV002056319; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370298253702982GANC_000012.11:g.53702982G>AClinGen:CA6599067C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.884G>A (p.Trp295Ter)8086AAASPathogenic-1RCV001783517; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370299253702992CT53702992-
NM_015665.6(AAAS):c.856C>T (p.Arg286Ter)8086AAASPathogenic-1RCV001783264|RCV001868847; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370302053703020GA53703020-
NM_015665.6(AAAS):c.855C>T (p.Phe285=)8086AAASBenignrs1546808RCV000116212|RCV000378616|RCV001594838; NMedGen:CN169374|MONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370302153703021GANC_000012.11:g.53703021G>AClinGen:CA151554C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.852G>A (p.Trp284Ter)8086AAASPathogenic-1RCV001784911; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370302453703024CT53703024-
NM_015665.6(AAAS):c.847C>T (p.Pro283Ser)8086AAASUncertain significance-1RCV002221411; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370302953703029GA53703029-
NM_015665.6(AAAS):c.843C>G (p.Pro281=)8086AAASConflicting interpretations of pathogenicityrs145196232RCV000286533|RCV000894842; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370303353703033GCNC_000012.11:g.53703033G>CClinGen:CA6599074C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.819T>C (p.Asp273=)8086AAASUncertain significancers149487112RCV001110959; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370305753703057AG12:g.53703057A>G-
NM_015665.6(AAAS):c.808C>T (p.Arg270Trp)8086AAASUncertain significancers779681475RCV001110960; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370338753703387GA12:g.53703387G>A-
NM_015665.6(AAAS):c.788C>T (p.Ser263Leu)8086AAASPathogenic-1RCV001785146; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370340753703407GA53703407-
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)8086AAASPathogenic/Likely pathogenicrs121918550RCV000005348|RCV000311283|RCV000415076|RCV000624696; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202|Human Phenotype Ontology:HP:0002313,Human Phenotype Ontology:HP:0007191,MedGen:C0037771; Human Phenotype Ontology:HP:0001352,Human Phenotype Ontology:HP:0003487,MedGen:C0034935; 125370340853703408AG12:g.53703408A>GUniProtKB:Q9NRG9#VAR_012806,OMIM:605378.0007,ClinGen:CA117228C0034935 Babinski sign;
NM_015665.6(AAAS):c.781_782del (p.Ala262fs)8086AAASLikely pathogenic-1RCV001785166; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370341353703414TGAT53703412-
NM_015665.6(AAAS):c.772C>T (p.Arg258Trp)8086AAASUncertain significancers182489063RCV001328918|RCV001859253; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370342353703423GA53703423-
NM_015665.6(AAAS):c.771del (p.Arg258fs)8086AAASPathogenic-1RCV001784932; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370342453703424GCG53703423-
NM_015665.6(AAAS):c.762del (p.Ser255fs)8086AAASLikely pathogenic-1RCV001785163; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370343353703433TGT53703432-
NM_015665.6(AAAS):c.721C>T (p.His241Tyr)8086AAASUncertain significance-1RCV002221393; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370347453703474GA53703474-
NM_015665.6(AAAS):c.709C>T (p.Gln237Ter)8086AAASPathogenic-1RCV001783477; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370348653703486GA53703486-
NM_015665.6(AAAS):c.689+71C>G8086AAASBenign-1RCV001544471|RCV001694084; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370801153708011GC53708011-
NM_015665.6(AAAS):c.689+1G>A8086AAASPathogenic-1RCV001784052; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370808153708081CT53708081-
NM_015665.6(AAAS):c.688C>T (p.Arg230Ter)8086AAASPathogenicrs758057774RCV001043399|RCV001784588; NMedGen:CN517202|MONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370808353708083GA12:g.53708083G>A-
NM_015665.6(AAAS):c.679T>C (p.Leu227=)8086AAASConflicting interpretations of pathogenicityrs80027466RCV000116211|RCV000322296|RCV000419976; NMedGen:CN517202|MONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN169374125370809253708092AG12:g.53708092A>GClinGen:CA230844C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.667G>C (p.Asp223His)8086AAASUncertain significancers141013947RCV001110961; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370810453708104CG12:g.53708104C>G-
NM_015665.6(AAAS):c.663C>G (p.Thr221=)8086AAASConflicting interpretations of pathogenicityrs886049650RCV000383886|RCV000899336; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370810853708108GCNC_000012.11:g.53708108G>CClinGen:CA10638069C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.618del (p.Ser207fs)8086AAASPathogenic-1RCV001783435; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370815353708153AGA53708152-
NM_015665.6(AAAS):c.602G>A (p.Trp201Ter)8086AAASPathogenic-1RCV001782110; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370816953708169CT53708169-
NM_015665.6(AAAS):c.580C>T (p.Arg194Ter)8086AAASPathogenic-1RCV001785965; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370819153708191GA53708191-
NM_015665.6(AAAS):c.577C>T (p.Gln193Ter)8086AAASPathogenic-1RCV001784967; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370819453708194GA53708194-
NM_015665.6(AAAS):c.546-2A>C8086AAASPathogenic-1RCV001784679; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370822753708227TG53708227-
NM_015665.6(AAAS):c.500C>A (p.Ala167Glu)8086AAASLikely pathogenicrs1017700992RCV000413311|RCV001782891; NMedGen:CN517202|MONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370858053708580GT12:g.53708580G>TClinGen:CA16042909CN517202 not provided;
NM_015665.6(AAAS):c.500C>T (p.Ala167Val)8086AAASPathogenic-1RCV001781989; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370858053708580GA53708580-
NM_015665.6(AAAS):c.479A>G (p.His160Arg)8086AAASLikely pathogenic-1RCV001785165; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370860153708601TC53708601-
NM_015665.6(AAAS):c.470_471del (p.Phe157fs)8086AAASPathogenic-1RCV001784862; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370860953708610CAAC53708608-
NM_015665.6(AAAS):c.464G>A (p.Arg155His)8086AAASPathogenic/Likely pathogenicrs758440592RCV001092484|RCV001706976; NMedGen:CN517202|MONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370861653708616CT12:g.53708616C>TOMIM:605378.0011
NM_015665.6(AAAS):c.464G>C (p.Arg155Pro)8086AAASPathogenic-1RCV001785104; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370861653708616CG53708616-
NM_015665.6(AAAS):c.446+1G>A8086AAASPathogenic-1RCV001783289; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370887753708877CT53708877-
NM_015665.6(AAAS):c.433C>T (p.Gln145Ter)8086AAASPathogenic-1RCV001783148; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370889153708891GA53708891-
NM_015665.6(AAAS):c.429del (p.Phe143fs)8086AAASPathogenic-1RCV001780483; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370889553708895CAC53708894-
NM_015665.6(AAAS):c.414T>C (p.Asp138=)8086AAASBenign/Likely benignrs11540353RCV000291773|RCV001536397; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370891053708910AGNC_000012.11:g.53708910A>GClinGen:CA6599204C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.400-2A>G8086AAASPathogenicrs1565781382RCV000005345; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370892653708926TC12:g.53708926T>COMIM:605378.0004C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.399+1G>A8086AAASPathogenic-1RCV001449917; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370911853709118CT53709118-
NM_015665.6(AAAS):c.362C>T (p.Ala121Val)8086AAASUncertain significancers201451157RCV001112963; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370915653709156GA12:g.53709156G>A-
NM_015665.6(AAAS):c.355C>T (p.Arg119Ter)8086AAASPathogenic-1RCV001784839; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370916353709163GA53709163-
NM_015665.6(AAAS):c.352del (p.Cys118fs)8086AAASPathogenic-1RCV001782149; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370916653709166CAC53709165-
NM_015665.6(AAAS):c.333C>T (p.Ser111=)8086AAASUncertain significancers146770218RCV000344324; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370918553709185GANC_000012.11:g.53709185G>AClinGen:CA6599260C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.327G>T (p.Thr109=)8086AAASBenign/Likely benignrs190876509RCV000915178|RCV001112964; NMedGen:CN517202|MONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370919153709191CA12:g.53709191C>A-
NM_015665.6(AAAS):c.327G>A (p.Thr109=)8086AAASUncertain significancers190876509RCV001112965; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370919153709191CT12:g.53709191C>T-
NM_015665.6(AAAS):c.308T>C (p.Val103Ala)8086AAASUncertain significancers201692749RCV001112966; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370921053709210AG12:g.53709210A>G-
NM_015665.6(AAAS):c.307+13C>T8086AAASConflicting interpretations of pathogenicityrs761242924RCV001112967|RCV002069821; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370949853709498GA12:g.53709498G>A-
NM_015665.6(AAAS):c.259G>T (p.Val87Leu)8086AAASUncertain significancers766985003RCV000393948; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370955953709559CANC_000012.11:g.53709559C>AClinGen:CA6599283C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.258T>A (p.Asp86Glu)8086AAASUncertain significancers749899811RCV000295188; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125370956053709560ATNC_000012.11:g.53709560A>TClinGen:CA6599284C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.252-142C>A8086AAASBenign-1RCV001544472|RCV001615287; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125370970853709708GT53709708-
NM_015665.6(AAAS):c.251+59A>C8086AAASBenign-1RCV001544473|RCV001673182; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125371429053714290TG53714290-
NM_015665.6(AAAS):c.251G>A (p.Trp84Ter)8086AAASPathogenicrs754637718RCV000005351; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125371434953714349CTNC_000012.11:g.53714349C>TClinGen:CA6599308,OMIM:605378.0010C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.250del (p.Trp84fs)8086AAASPathogenic-1RCV001449918; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125371435053714350CAC53714349-
NM_015665.6(AAAS):c.234G>A (p.Lys78=)8086AAASBenign/Likely benignrs145519240RCV000352315|RCV000903961; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125371436653714366CTNC_000012.11:g.53714366C>TClinGen:CA6599312C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.211del (p.His71fs)8086AAASPathogenic-1RCV001780449; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125371438953714389TGT53714388-
NM_015665.6(AAAS):c.200C>T (p.Thr67Ile)8086AAASUncertain significancers1114167372RCV000490645; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125371440053714400GA12:g.53714400G>AClinGen:CA385046364C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.124-4A>G8086AAASUncertain significancers886049651RCV000393947; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125371448053714480TCNC_000012.11:g.53714480T>CClinGen:CA10641984C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.124-20T>C8086AAASBenign-1RCV001540909|RCV001544474; NMedGen:CN517202|MONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125371449653714496AG53714496-
NM_015665.6(AAAS):c.124-33A>C8086AAASBenign-1RCV001544475|RCV001694085; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125371450953714509TG53714509-
NM_015665.6(AAAS):c.123+2T>C8086AAASPathogenic-1RCV001785861; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125371512553715125AG53715125-
NM_015665.6(AAAS):c.65A>G (p.Asn22Ser)8086AAASUncertain significancers774899476RCV000313149; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125371518553715185TCNC_000012.11:g.53715185T>CClinGen:CA6599372C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.63C>G (p.His21Gln)8086AAASConflicting interpretations of pathogenicityrs200408293RCV000337631|RCV000879353; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125371518753715187GCNC_000012.11:g.53715187G>CClinGen:CA6599373C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.57_58del (p.Tyr19_Glu20delinsTer)8086AAASPathogenicrs552637666RCV000254866|RCV001782749; NMedGen:CN517202|MONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125371519253715193TCAT12:g.53715192_53715193delClinGen:CA6599375CN517202 not provided;
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)8086AAASPathogenicrs121918549RCV000005347|RCV000255807; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869|MedGen:CN517202125371520753715207GTNC_000012.11:g.53715207G>TClinGen:CA117227,UniProtKB:Q9NRG9#VAR_012804,OMIM:605378.0006
NM_015665.6(AAAS):c.43C>T (p.Gln15Ter)8086AAASPathogenic-1RCV001780539; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125371520753715207GA53715207-
NM_015665.6(AAAS):c.11T>C (p.Leu4Pro)8086AAASUncertain significancers886049652RCV000403027; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125371523953715239AGNC_000012.11:g.53715239A>GClinGen:CA10633251C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.-70T>C8086AAASLikely benignrs186975061RCV001114322; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125371531953715319AG12:g.53715319A>G-
NM_015665.6(AAAS):c.-73G>A8086AAASUncertain significancers561616104RCV000297986; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125371532253715322CTNC_000012.11:g.53715322C>TClinGen:CA10642838C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.-84G>A8086AAASUncertain significancers886049653RCV000354929; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125371533353715333CTNC_000012.11:g.53715333C>TClinGen:CA10641985C0271742 231550 Glucocorticoid deficiency with achalasia;
NM_015665.6(AAAS):c.-130C>T8086AAASUncertain significancers149864679RCV000267393; NMONDO:MONDO:0009279,MedGen:C0271742,OMIM:231550, Orphanet:869125371537953715379GANC_000012.11:g.53715379G>AClinGen:CA10642842C0271742 231550 Glucocorticoid deficiency with achalasia;
MSeqDR Portal