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Abnormalities, Multiple (D000015)
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Hearing Loss (D034381)
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Lacrimal Apparatus Diseases (D007766)
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Syndactyly (D013576)
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Tooth Abnormalities (D014071)
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Lacrimoauriculodentodigital syndrome (C538132)

       Child Nodes:



 Sister Nodes: 
..expandAckerman syndrome (C538170)
..expandAnodontia (D000848) Child29
..expandAREDYLD Syndrome (C537427)
..expandBlepharo-cheilo-dontic syndrome (C536188)
..expandBook Syndrome (C562993)
..expandCarabelli Anomaly of Maxillary Molar Teeth (C566175)
..expandCleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only (C563974)
..expandCODAS syndrome (C536434)
..expandCRANIOSYNOSTOSIS AND DENTAL ANOMALIES (OMIM:614188)
..expandDeafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..expandDeafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..expandDens in Dente (D003719) Child1
..expandDental Enamel Hypoplasia (D003744) Child29
..expandDentin Dysplasia (D003805) Child3
..expandDentinogenesis Imperfecta (D003811) Child7
..expandDermoodontodysplasia (C565103)
..expandDiastema (D003970) Child1
..expandEuhidrotic ectodermal dysplasia (C535763)
..expandFacial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
..expandFaciocardiomelic Dysplasia, Lethal (C565578)
..expandFused Teeth (D005671)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHypoglossia-Hypodactylia (C566308)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandKallmann Syndrome 2 with Selective Tooth Agenesis (C566948)
..expandKBG syndrome (C537015)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandLarsen syndrome, dominant type (C537873)
..expandNance-Horan syndrome (C538336)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculotrichodysplasia (C564934)
..expandOdontodysplasia (D018126) Child3
..expandOdontomicronychial dysplasia (C537741)
..expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
..expandOroacral Syndrome, Verloes-Koulischer Type (C566374)
..expandOtodental Dysplasia (C563482)
..expandPolydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..expandRodrigues blindness (C535865)
..expandSpondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..expandTaurodontism (C536946)
..expandTaurodontism, microdontia, and dens invaginatus (C536947)
..expandTeeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
..expandTeeth, Odd Shapes Of (C566076)
..expandTemtamy preaxial brachydactyly syndrome (C536958)
..expandTOOTH AGENESIS, SELECTIVE, 7 (OMIM:616724)
..expandTOOTH AGENESIS, SELECTIVE, 8 (OMIM:617073)
..expandTOOTH AGENESIS, SELECTIVE, 9 (OMIM:617275)
..expandTooth, Supernumerary (D014096) Child3
..expandTricho-dento-osseous syndrome 1 (C536550)
..expandTRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..expandWeyers acrofacial dysostosis (C536695)
..expandZazam Sheriff Phillips syndrome (C536723)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6754
Name:Lacrimoauriculodentodigital syndrome
Definition:
Alternative IDs:OMIM:149730
ParentIDs:MESH:D000015|MESH:D007766|MESH:D013576|MESH:D014071|MESH:D034381
TreeNumbers:C05.116.099.370.894.819/C538132 |C05.660.585.800/C538132 |C05.660.906.819/C538132 |C07.650.800/C538132 |C07.793.700/C538132 |C09.218.458.341/C538132 |C10.597.751.418.341/C538132 |C11.496/C538132 |C16.131.077/C538132 |C16.131.621.585.800/C538132 |C16.131.621.906.81
Synonyms:LADD |LADD SYNDROME |Levy Hollister syndrome |Levy-Hollister Syndrome
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Eye disease|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C538132
MeSH: C538132
OMIM: 149730;
MSeqDR LSDB:  
Genes: FGF10; FGFR2; FGFR3;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:00012332-3 finger syndactyly
3 HP:0000198Absence of Stensen duct
4 HP:0001092Absent lacrimal punctum
5 HP:0009637Absent proximal phalanx of thumb
6 HP:0003974Absent radius
7 HP:0000522Alacrima
8 HP:0009740Aplasia of the parotid gland
9 HP:0005707Bilateral triphalangeal thumbs
10 HP:0000337Broad forehead
11 HP:0010055Broad hallux
12 HP:0000670Carious teeth
13 HP:0004209Clinodactyly of the 5th finger
14 HP:0011065Conical incisor
15 HP:0100583Corneal perforation
16 HP:0008743Coronal hypospadias
17 HP:0000378Cupped ear
18 HP:0000620Dacryocystitis
19 HP:0000680Delayed eruption of primary teeth
20 HP:0000494Downslanted palpebral fissures
21 HP:0000974Hyperextensible skin
22 HP:0000316Hypertelorism
23 HP:0000668Hypodontia
24 HP:0006297Hypoplasia of dental enamel
25 HP:0007892Hypoplasia of the lacrimal punctum
26 HP:0002984Hypoplasia of the radius
27 HP:0003022Hypoplasia of the ulna
28 HP:0007900Hypoplastic lacrimal duct
29 HP:0007656Lacrimal gland aplasia
30 HP:0007732Lacrimal gland hypoplasia
31 HP:0000410Mixed hearing impairment
32 HP:0000579Nasolacrimal duct obstruction
33 HP:0009741Nephrosclerosis
34 HP:0009944Partial duplication of thumb phalanx
35 HP:0000629Periorbital fullness
36 HP:0100258Preaxial polydactyly
37 HP:0009462Radial deviation of the 3rd finger
38 HP:0000495Recurrent corneal erosions
39 HP:0000104Renal agenesis
40 HP:0001245Small thenar eminence
41 HP:0000506Telecanthus
42 HP:0000217Xerostomia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000005.9:g.44300489_44312646del2255FGF10Pathogenic-1RCV001726492; NMONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363; MONDO:MONDO:0009936,MedGen:C0456891,OMIM:265430, Orphanet:225754430048944312646nana-1-
NM_004465.1(FGF10):c.*5A>T2255FGF10Benign/Likely benignrs111763965RCV000315768|RCV000361118|RCV001692088; NMONDO:MONDO:0008397,MedGen:C0158667,OMIM:180920, Orphanet:86815|MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363|MedGen:CN51720254430509244305092TA5:g.44305092T>AClinGen:CA3258474C0158667 180920 Congenital absence of salivary gland;
NM_004465.2(FGF10):c.624A>G (p.Ser208=)2255FGF10Uncertain significancers886060653RCV000287224|RCV000398807; NMONDO:MONDO:0008397,MedGen:C0158667,OMIM:180920, Orphanet:86815|MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:236354430510044305100TC5:g.44305100T>CClinGen:CA10624890C0158667 180920 Congenital absence of salivary gland;
NM_004465.2(FGF10):c.550G>A (p.Gly184Arg)2255FGF10Likely pathogenicrs1554035469RCV000659647; NMONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:236354430517444305174CTNC_000005.9:g.44305174C>T-C0265269 149730 Levy-Hollister syndrome;
NM_004465.2(FGF10):c.541A>C (p.Asn181His)2255FGF10Uncertain significancers1332768200RCV000659646; NMONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:236354430518344305183TG5:g.44305183T>G-C0265269 149730 Levy-Hollister syndrome;
NM_004465.2(FGF10):c.467T>G (p.Ile156Arg)2255FGF10Pathogenicrs104893886RCV000007967; NMONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:236354430525744305257AC5:g.44305257A>CClinGen:CA118869,UniProtKB:O15520#VAR_029889,OMIM:602115.0004C0265269 149730 Levy-Hollister syndrome;
NM_004465.2(FGF10):c.409A>T (p.Lys137Ter)2255FGF10Pathogenicrs104893887RCV000007968|RCV000007969; NMONDO:MONDO:0008397,MedGen:C0158667,OMIM:180920, Orphanet:86815|MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:236354431054944310549TA5:g.44310549T>AClinGen:CA118870,OMIM:602115.0005C0158667 180920 Congenital absence of salivary gland;
NM_004465.2(FGF10):c.401T>A (p.Met134Lys)2255FGF10Likely pathogenicrs1554035757RCV000659645; NMONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:236354431055744310557ATNC_000005.9:g.44310557A>T-C0265269 149730 Levy-Hollister syndrome;
NM_004465.2(FGF10):c.356del (p.Gly119fs)2255FGF10Likely pathogenicrs1554035763RCV000659644; NMONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:236354431060244310602TCT5:g.44310602_44310602del-C0265269 149730 Levy-Hollister syndrome;
NM_004465.2(FGF10):c.317G>T (p.Cys106Phe)2255FGF10Pathogenicrs104893885RCV000007966; NMONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:236354438846844388468CA5:g.44388468C>AClinGen:CA118868,UniProtKB:O15520#VAR_029888,OMIM:602115.0003C0265269 149730 Levy-Hollister syndrome;
NM_004465.2(FGF10):c.256del (p.Thr86fs)2255FGF10Likely pathogenicrs1554040361RCV000659643; NMONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:236354438852944388529GTGNC_000005.9:g.44388529del-C0265269 149730 Levy-Hollister syndrome;
NM_004465.2(FGF10):c.240A>C (p.Arg80Ser)2255FGF10Pathogenicrs104893888RCV000007970|RCV000659642; NMONDO:MONDO:0008397,MedGen:C0158667,OMIM:180920, Orphanet:86815|MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:236354438854544388545TG5:g.44388545T>GClinGen:CA118872,OMIM:602115.0006C0158667 180920 Congenital absence of salivary gland;
NM_004465.2(FGF10):c.232del (p.Arg78fs)2255FGF10Likely pathogenicrs1554040364RCV000659641; NMONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:236354438855344388553CGC5:g.44388553_44388553del-C0265269 149730 Levy-Hollister syndrome;
NM_004465.2(FGF10):c.116C>A (p.Ala39Asp)2255FGF10Uncertain significancers201790067RCV001196292; NMONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:236354438866944388669GT5:g.44388669G>T-
NM_004465.2(FGF10):c.1A>G (p.Met1Val)2255FGF10Likely pathogenicrs1554040396RCV000659640; NMONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:236354438878444388784TCNC_000005.9:g.44388784T>C-C0265269 149730 Levy-Hollister syndrome;
NM_000141.5(FGFR2):c.*1498_*1502del2263FGFR2Likely benignrs566259479RCV000287957|RCV000291506|RCV000313921|RCV000322912|RCV000345308|RCV000348873|RCV000383456|RCV000379787|RCV000394480; NMONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150, Orphanet:1540|MONDO:MONDO:0007041,MedGen:C0001193,OMIM:101200, Orphanet:87|MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363|MONDO:M10123237869123237873ATTTATANC_000010.10:g.123237872_123237876delClinGen:CA10628102C0001193 101200 Acrocephalosyndactyly type I;
NM_000141.5(FGFR2):c.*641_*644del2263FGFR2Likely benignrs548465887RCV000285303|RCV000291375|RCV000302982|RCV000342660|RCV000343940|RCV000355448|RCV000389928|RCV000396781|RCV000404772; NMONDO:MONDO:0007042,MedGen:C0175699,OMIM:101400, Orphanet:794|MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363|MONDO:MONDO:0007412,MedGen:C1852406,OMIM:123790, Orphanet:1555|MONDO:MONDO:0007041,MedGen:C0001193,OMIM:101200, Orphanet:87|Human Ph10123238727123238730GATTAGNC_000010.10:g.123238730_123238733delClinGen:CA10631069C0001193 101200 Acrocephalosyndactyly type I;
NM_000141.5(FGFR2):c.2021C>T (p.Ala674Val)2263FGFR2Likely pathogenicrs1554907337RCV000659649; NMONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:236310123246904123246904GANC_000010.10:g.123246904G>A-C0265269 149730 Levy-Hollister syndrome;
NM_000141.5(FGFR2):c.1947_1949del (p.Arg649_Asp650delinsSer)2263FGFR2Pathogenicrs879253720RCV000014223; NMONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:236310123247542123247544ATCTA10:g.123247542_123247544delClinGen:CA10575519,OMIM:176943.0036C0265269 149730 Levy-Hollister syndrome;
NM_000141.5(FGFR2):c.1942G>A (p.Ala648Thr)2263FGFR2Pathogenicrs121918508RCV000014222|RCV001291623; NMONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363|MedGen:CN51720210123247549123247549CT10:g.123247549C>TClinGen:CA122998,UniProtKB:P21802#VAR_029885,OMIM:176943.0035C0265269 149730 Levy-Hollister syndrome;
NM_000141.5(FGFR2):c.1882G>A (p.Ala628Thr)2263FGFR2Pathogenicrs121918509RCV000014224|RCV000414415; NMONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363|MedGen:CN51720210123247609123247609CT10:g.123247609C>TClinGen:CA123000,UniProtKB:P21802#VAR_029884,OMIM:176943.0037C0265269 149730 Levy-Hollister syndrome;
NM_000141.5(FGFR2):c.1544C>T (p.Ala515Val)2263FGFR2Pathogenicrs1847510893RCV001250712; NMONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:236310123260357123260357GA10:g.123260357G>A-
NM_000141.5(FGFR2):c.1477G>T (p.Gly493Trp)2263FGFR2Likely pathogenicrs1554917471RCV000659648; NMONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:236310123260424123260424CANC_000010.10:g.123260424C>A-C0265269 149730 Levy-Hollister syndrome;
NM_000141.5(FGFR2):c.110-22TC[3]2263FGFR2Conflicting interpretations of pathogenicityrs773932794RCV000261993|RCV000267981|RCV000275299|RCV000311649|RCV000317100|RCV000323000|RCV000356791|RCV000371758|RCV000377753|RCV002059527; NMedGen:CN043619|MONDO:MONDO:0007400,MedGen:C0795998,OMIM:123150, Orphanet:1540|MONDO:MONDO:0007041,MedGen:C0001193,OMIM:101200, Orphanet:87|MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orpha10123325233123325234GGAGNC_000010.10:g.123325233GA[3]ClinGen:CA5721218C0001193 101200 Acrocephalosyndactyly type I;
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe)2261FGFR3not providedrs761325047RCV000709871; NMONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15; MONDO:MONDO:0012504,MedGen:C1864852,OMIM:610474, Orphanet:85164; MONDO:MONDO:0012833,MedGen:C2677099,OMIM:612247, Orphanet:93262; MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363; MONDO418066151806615CTNC_000004.11:g.1806615C>T-
NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn)2261FGFR3Uncertain significancers121913112RCV001580446|RCV000017764; NMedGen:CN517202|MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363418072881807288GA4:g.1807288G>AClinGen:CA126384,UniProtKB:P22607#VAR_029887,OMIM:134934.0028C0265269 149730 Levy-Hollister syndrome;
NM_000142.5(FGFR3):c.1882G>A (p.Asp628Asn)2261FGFR3Pathogenicrs1453271838RCV000656386; NMONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363418078231807823GANC_000004.11:g.1807823G>AOMIM:134934.0038C0265269 149730 Levy-Hollister syndrome;
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