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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

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: Abnormalities, Multiple (D000015)
Parent Node: Hearing Loss (D034381)
Parent Node: Lacrimal Apparatus Diseases (D007766)
Parent Node: Syndactyly (D013576)
Parent Node: Tooth Abnormalities (D014071)
..Starting node ..Lacrimoauriculodentodigital syndrome (C538132)
Child Nodes:
Sister Nodes:
..Ackerman syndrome (C538170)
..Anodontia (D000848) 29
..AREDYLD Syndrome (C537427)
..Blepharo-cheilo-dontic syndrome (C536188)
..Book Syndrome (C562993)
..Carabelli Anomaly of Maxillary Molar Teeth (C566175)
..Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only (C563974)
..CODAS syndrome (C536434)
..CRANIOSYNOSTOSIS AND DENTAL ANOMALIES (OMIM:614188)
..Deafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..Dens in Dente (D003719) 1
..Dental Enamel Hypoplasia (D003744) 29
..Dentin Dysplasia (D003805) 3
..Dentinogenesis Imperfecta (D003811) 7
..Dermoodontodysplasia (C565103)
..Diastema (D003970) 1
..Euhidrotic ectodermal dysplasia (C535763)
..Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Fused Teeth (D005671)
..Grubben de Cock Borghgraef syndrome (C537621)
..Hypoglossia-Hypodactylia (C566308)
..Iridogoniodysgenesis, dominant type (C535536)
..Kallmann Syndrome 2 with Selective Tooth Agenesis (C566948)
..KBG syndrome (C537015)
..Lacrimoauriculodentodigital syndrome (C538132)
..Larsen syndrome, dominant type (C537873)
..Nance-Horan syndrome (C538336)
..Oculodentodigital Dysplasia (C563160)
..Oculodentodigital Dysplasia, Autosomal Recessive (C567605)
..Oculotrichodysplasia (C564934)
..Odontodysplasia (D018126) 3
..Odontomicronychial dysplasia (C537741)
..Odontotrichoungual-Digital-Palmar Syndrome (C566598)
..Oroacral Syndrome, Verloes-Koulischer Type (C566374)
..Otodental Dysplasia (C563482)
..Polydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..Rodrigues blindness (C535865)
..Spondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..Taurodontism (C536946)
..Taurodontism, microdontia, and dens invaginatus (C536947)
..Teeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
..Teeth, Odd Shapes Of (C566076)
..Temtamy preaxial brachydactyly syndrome (C536958)
..TOOTH AGENESIS, SELECTIVE, 7 (OMIM:616724)
..TOOTH AGENESIS, SELECTIVE, 8 (OMIM:617073)
..TOOTH AGENESIS, SELECTIVE, 9 (OMIM:617275)
..Tooth, Supernumerary (D014096) 3
..Tricho-dento-osseous syndrome 1 (C536550)
..TRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..Weyers acrofacial dysostosis (C536695)
..Zazam 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:

Reference:

MedGen: C538132
MeSH: C538132
OMIM: 149730;
MSeqDR :
Genes: FGF10; FGFR2; FGFR3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001233	2-3 finger syndactyly
3	HP:0000198	Absence of Stensen duct
4	HP:0001092	Absent lacrimal punctum
5	HP:0009637	Absent proximal phalanx of thumb
6	HP:0003974	Absent radius
7	HP:0000522	Alacrima
8	HP:0009740	Aplasia of the parotid gland
9	HP:0005707	Bilateral triphalangeal thumbs
10	HP:0000337	Broad forehead
11	HP:0010055	Broad hallux
12	HP:0000670	Carious teeth
13	HP:0004209	Clinodactyly of the 5th finger
14	HP:0011065	Conical incisor
15	HP:0100583	Corneal perforation
16	HP:0008743	Coronal hypospadias
17	HP:0000378	Cupped ear
18	HP:0000620	Dacryocystitis
19	HP:0000680	Delayed eruption of primary teeth
20	HP:0000494	Downslanted palpebral fissures
21	HP:0000974	Hyperextensible skin
22	HP:0000316	Hypertelorism
23	HP:0000668	Hypodontia
24	HP:0006297	Hypoplasia of dental enamel
25	HP:0007892	Hypoplasia of the lacrimal punctum
26	HP:0002984	Hypoplasia of the radius
27	HP:0003022	Hypoplasia of the ulna
28	HP:0007900	Hypoplastic lacrimal duct
29	HP:0007656	Lacrimal gland aplasia
30	HP:0007732	Lacrimal gland hypoplasia
31	HP:0000410	Mixed hearing impairment
32	HP:0000579	Nasolacrimal duct obstruction
33	HP:0009741	Nephrosclerosis
34	HP:0009944	Partial duplication of thumb phalanx
35	HP:0000629	Periorbital fullness
36	HP:0100258	Preaxial polydactyly
37	HP:0009462	Radial deviation of the 3rd finger
38	HP:0000495	Recurrent corneal erosions
39	HP:0000104	Renal agenesis
40	HP:0001245	Small thenar eminence
41	HP:0000506	Telecanthus
42	HP:0000217	Xerostomia

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
NC_000005.9:g.44300489_44312646del	2255	FGF10	Pathogenic	-1	RCV001726492;	N	MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363; MONDO:MONDO:0009936,MedGen:C0456891,OMIM:265430, Orphanet:2257	5	44300489	44312646	na	na	-1	-
NM_004465.1(FGF10):c.*5A>T	2255	FGF10	Benign/Likely benign	rs111763965	RCV000315768\|RCV000361118\|RCV001692088;	N	MONDO:MONDO:0008397,MedGen:C0158667,OMIM:180920, Orphanet:86815\|MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363\|MedGen:CN517202	5	44305092	44305092	T	A	5:g.44305092T>A	ClinGen:CA3258474	C0158667 180920 Congenital absence of salivary gland;
NM_004465.2(FGF10):c.624A>G (p.Ser208=)	2255	FGF10	Uncertain significance	rs886060653	RCV000287224\|RCV000398807;	N	MONDO:MONDO:0008397,MedGen:C0158667,OMIM:180920, Orphanet:86815\|MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	5	44305100	44305100	T	C	5:g.44305100T>C	ClinGen:CA10624890	C0158667 180920 Congenital absence of salivary gland;
NM_004465.2(FGF10):c.550G>A (p.Gly184Arg)	2255	FGF10	Likely pathogenic	rs1554035469	RCV000659647;	N	MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	5	44305174	44305174	C	T	NC_000005.9:g.44305174C>T	-	C0265269 149730 Levy-Hollister syndrome;
NM_004465.2(FGF10):c.541A>C (p.Asn181His)	2255	FGF10	Uncertain significance	rs1332768200	RCV000659646;	N	MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	5	44305183	44305183	T	G	5:g.44305183T>G	-	C0265269 149730 Levy-Hollister syndrome;
NM_004465.2(FGF10):c.467T>G (p.Ile156Arg)	2255	FGF10	Pathogenic	rs104893886	RCV000007967;	N	MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	5	44305257	44305257	A	C	5:g.44305257A>C	ClinGen:CA118869,UniProtKB:O15520#VAR_029889,OMIM:602115.0004	C0265269 149730 Levy-Hollister syndrome;
NM_004465.2(FGF10):c.409A>T (p.Lys137Ter)	2255	FGF10	Pathogenic	rs104893887	RCV000007968\|RCV000007969;	N	MONDO:MONDO:0008397,MedGen:C0158667,OMIM:180920, Orphanet:86815\|MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	5	44310549	44310549	T	A	5:g.44310549T>A	ClinGen:CA118870,OMIM:602115.0005	C0158667 180920 Congenital absence of salivary gland;
NM_004465.2(FGF10):c.401T>A (p.Met134Lys)	2255	FGF10	Likely pathogenic	rs1554035757	RCV000659645;	N	MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	5	44310557	44310557	A	T	NC_000005.9:g.44310557A>T	-	C0265269 149730 Levy-Hollister syndrome;
NM_004465.2(FGF10):c.356del (p.Gly119fs)	2255	FGF10	Likely pathogenic	rs1554035763	RCV000659644;	N	MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	5	44310602	44310602	TC	T	5:g.44310602_44310602del	-	C0265269 149730 Levy-Hollister syndrome;
NM_004465.2(FGF10):c.317G>T (p.Cys106Phe)	2255	FGF10	Pathogenic	rs104893885	RCV000007966;	N	MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	5	44388468	44388468	C	A	5:g.44388468C>A	ClinGen:CA118868,UniProtKB:O15520#VAR_029888,OMIM:602115.0003	C0265269 149730 Levy-Hollister syndrome;
NM_004465.2(FGF10):c.256del (p.Thr86fs)	2255	FGF10	Likely pathogenic	rs1554040361	RCV000659643;	N	MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	5	44388529	44388529	GT	G	NC_000005.9:g.44388529del	-	C0265269 149730 Levy-Hollister syndrome;
NM_004465.2(FGF10):c.240A>C (p.Arg80Ser)	2255	FGF10	Pathogenic	rs104893888	RCV000007970\|RCV000659642;	N	MONDO:MONDO:0008397,MedGen:C0158667,OMIM:180920, Orphanet:86815\|MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	5	44388545	44388545	T	G	5:g.44388545T>G	ClinGen:CA118872,OMIM:602115.0006	C0158667 180920 Congenital absence of salivary gland;
NM_004465.2(FGF10):c.232del (p.Arg78fs)	2255	FGF10	Likely pathogenic	rs1554040364	RCV000659641;	N	MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	5	44388553	44388553	CG	C	5:g.44388553_44388553del	-	C0265269 149730 Levy-Hollister syndrome;
NM_004465.2(FGF10):c.116C>A (p.Ala39Asp)	2255	FGF10	Uncertain significance	rs201790067	RCV001196292;	N	MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	5	44388669	44388669	G	T	5:g.44388669G>T	-
NM_004465.2(FGF10):c.1A>G (p.Met1Val)	2255	FGF10	Likely pathogenic	rs1554040396	RCV000659640;	N	MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	5	44388784	44388784	T	C	NC_000005.9:g.44388784T>C	-	C0265269 149730 Levy-Hollister syndrome;
NM_000141.5(FGFR2):c.1498_1502del	2263	FGFR2	Likely benign	rs566259479	RCV000287957\|RCV000291506\|RCV000313921\|RCV000322912\|RCV000345308\|RCV000348873\|RCV000383456\|RCV000379787\|RCV000394480;	N	MONDO: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:M	10	123237869	123237873	ATTTAT	A	NC_000010.10:g.123237872_123237876del	ClinGen:CA10628102	C0001193 101200 Acrocephalosyndactyly type I;
NM_000141.5(FGFR2):c.641_644del	2263	FGFR2	Likely benign	rs548465887	RCV000285303\|RCV000291375\|RCV000302982\|RCV000342660\|RCV000343940\|RCV000355448\|RCV000389928\|RCV000396781\|RCV000404772;	N	MONDO: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 Ph	10	123238727	123238730	GATTA	G	NC_000010.10:g.123238730_123238733del	ClinGen:CA10631069	C0001193 101200 Acrocephalosyndactyly type I;
NM_000141.5(FGFR2):c.2021C>T (p.Ala674Val)	2263	FGFR2	Likely pathogenic	rs1554907337	RCV000659649;	N	MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	10	123246904	123246904	G	A	NC_000010.10:g.123246904G>A	-	C0265269 149730 Levy-Hollister syndrome;
NM_000141.5(FGFR2):c.1947_1949del (p.Arg649_Asp650delinsSer)	2263	FGFR2	Pathogenic	rs879253720	RCV000014223;	N	MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	10	123247542	123247544	ATCT	A	10:g.123247542_123247544del	ClinGen:CA10575519,OMIM:176943.0036	C0265269 149730 Levy-Hollister syndrome;
NM_000141.5(FGFR2):c.1942G>A (p.Ala648Thr)	2263	FGFR2	Pathogenic	rs121918508	RCV000014222\|RCV001291623;	N	MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363\|MedGen:CN517202	10	123247549	123247549	C	T	10:g.123247549C>T	ClinGen:CA122998,UniProtKB:P21802#VAR_029885,OMIM:176943.0035	C0265269 149730 Levy-Hollister syndrome;
NM_000141.5(FGFR2):c.1882G>A (p.Ala628Thr)	2263	FGFR2	Pathogenic	rs121918509	RCV000014224\|RCV000414415;	N	MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363\|MedGen:CN517202	10	123247609	123247609	C	T	10:g.123247609C>T	ClinGen:CA123000,UniProtKB:P21802#VAR_029884,OMIM:176943.0037	C0265269 149730 Levy-Hollister syndrome;
NM_000141.5(FGFR2):c.1544C>T (p.Ala515Val)	2263	FGFR2	Pathogenic	rs1847510893	RCV001250712;	N	MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	10	123260357	123260357	G	A	10:g.123260357G>A	-
NM_000141.5(FGFR2):c.1477G>T (p.Gly493Trp)	2263	FGFR2	Likely pathogenic	rs1554917471	RCV000659648;	N	MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	10	123260424	123260424	C	A	NC_000010.10:g.123260424C>A	-	C0265269 149730 Levy-Hollister syndrome;
NM_000141.5(FGFR2):c.110-22TC[3]	2263	FGFR2	Conflicting interpretations of pathogenicity	rs773932794	RCV000261993\|RCV000267981\|RCV000275299\|RCV000311649\|RCV000317100\|RCV000323000\|RCV000356791\|RCV000371758\|RCV000377753\|RCV002059527;	N	MedGen: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,Orpha	10	123325233	123325234	GGA	G	NC_000010.10:g.123325233GA[3]	ClinGen:CA5721218	C0001193 101200 Acrocephalosyndactyly type I;
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe)	2261	FGFR3	not provided	rs761325047	RCV000709871;	N	MONDO: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; MONDO	4	1806615	1806615	C	T	NC_000004.11:g.1806615C>T	-
NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn)	2261	FGFR3	Uncertain significance	rs121913112	RCV001580446\|RCV000017764;	N	MedGen:CN517202\|MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	4	1807288	1807288	G	A	4:g.1807288G>A	ClinGen:CA126384,UniProtKB:P22607#VAR_029887,OMIM:134934.0028	C0265269 149730 Levy-Hollister syndrome;
NM_000142.5(FGFR3):c.1882G>A (p.Asp628Asn)	2261	FGFR3	Pathogenic	rs1453271838	RCV000656386;	N	MONDO:MONDO:0007872,MedGen:C0265269,OMIM:149730, Orphanet:2363	4	1807823	1807823	G	A	NC_000004.11:g.1807823G>A	OMIM:134934.0038	C0265269 149730 Levy-Hollister syndrome;

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