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Hello! Guest! Please Login or Register! Clinician Mode

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: Cataract (D002386)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Tooth Abnormalities (D014071)
..Starting node ..Nance-Horan syndrome (C538336)
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)
..Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) (C548011)
..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, Dental Medial (C565098)
..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, 2 (C566513)
..Tooth Agenesis, Selective, 3 (C567036)
..Tooth Agenesis, Selective, 4 (C563634)
..Tooth Agenesis, Selective, 5 (C565757)
..Tooth Agenesis, Selective, 6 (C567755)
..Tooth Agenesis, Selective, X-Linked, 1 (C567060)
..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, CTD

Term ID:

7764

Name:

Nance-Horan syndrome

Definition:

Alternative IDs:

OMIM:302350

ParentIDs:

MESH:D002386|MESH:D014071|MESH:D040181

TreeNumbers:

C07.650.800/C538336 |C07.793.700/C538336 |C11.510.245/C538336 |C16.131.850.800/C538336 |C16.320.322/C538336

Synonyms:

Cataract-Dental Syndrome |Cataract, X-linked, with Hutchinsonian Teeth |Mesiodens-Cataract Syndrome |NHS

Slim Mappings:

Congenital abnormality|Eye disease|Genetic disease (inborn)|Mouth disease

Reference:

MedGen: C538336
MeSH: C538336
OMIM: 302350;

Genes: NHS;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0000717	Autism
3	HP:0001500	Broad finger
4	HP:0000519	Developmental cataract
5	HP:0000699	Diastema
6	HP:0000501	Glaucoma
7	HP:0002342	Intellectual disability, moderate	HP:0040284
8	HP:0000276	Long face
9	HP:0000400	Macrotia
10	HP:0000482	Microcornea
11	HP:0000568	Microphthalmia
12	HP:0000275	Narrow face
13	HP:0000639	Nystagmus
14	HP:0008031	Posterior Y-sutural cataract
15	HP:0000426	Prominent nasal bridge
16	HP:0000448	Prominent nose
17	HP:0006346	Screwdriver-shaped incisors
18	HP:0009803	Short phalanx of finger
19	HP:0006332	Supernumerary maxillary incisor
20	HP:0000572	Visual loss

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_198270.3(NHS):c.115C>T (p.Gln39Ter)	4810	NHS	Pathogenic	104894881	RCV000011774;	N	MedGen:C0796085,OMIM:302350,ORPHA:627,SNOMED CT:445257004	X	17393995	17393995	NM_198270.3:c.115C>T	NP_938011.1:p.Gln39Ter	NC_000023.10:g.17393995C>T	OMIM Allelic Variant:300457.0005	C0796085 302350 Nance-Horan syndrome
NM_001136024.3(NHS):c.163C>T (p.Gln55Ter)	4810	NHS	Likely pathogenic	875989805	RCV000211110;	N	MedGen:C0796085,OMIM:302350,ORPHA:627,SNOMED CT:445257004	X	17705990	17705990	NM_001136024.3:c.163C>T	NP_001129496.1:p.Gln55Ter	NC_000023.10:g.17705990C>T	-	C0796085 302350 Nance-Horan syndrome
NM_198270.3(NHS):c.718dupG (p.Glu240Glyfs)	4810	NHS	Pathogenic	770771757	RCV000011773;	N	MedGen:C0796085,OMIM:302350,ORPHA:627,SNOMED CT:445257004	X	17706014	17706014	NM_198270.3:c.718dupG	NP_938011.1:p.Glu240Glyfs	NC_000023.10:g.17706014dupG	OMIM Allelic Variant:300457.0004	C0796085 302350 Nance-Horan syndrome
NM_198270.3(NHS):c.852delG (p.Ser285Profs)	4810	NHS	Pathogenic	786205677	RCV000170469;	N	MedGen:C0796085,OMIM:302350,ORPHA:627,SNOMED CT:445257004	X	17710588	17710588	NM_198270.3:c.852delG	NP_938011.1:p.Ser285Profs	NC_000023.10:g.17710588delG	OMIM Allelic Variant:300457.0009	C0796085 302350 Nance-Horan syndrome
NM_198270.3(NHS):c.853-2A>G	4810	NHS	Pathogenic	786205257	RCV000011775;	N	MedGen:C0796085,OMIM:302350,ORPHA:627,SNOMED CT:445257004	X	17739559	17739559	NM_198270.3:c.853-2A>G		NC_000023.10:g.17739559A>G	OMIM Allelic Variant:300457.0006	C0796085 302350 Nance-Horan syndrome
NM_198270.3(NHS):c.1117C>T (p.Arg373Ter)	4810	NHS	Pathogenic	132630322	RCV000011772; RCV000082793;	N	MedGen:C0796085,OMIM:302350,ORPHA:627,SNOMED CT:445257004; MedGen:CN221809	X	17742490	17742490	NM_198270.3:c.1117C>T	NP_938011.1:p.Arg373Ter	NC_000023.10:g.17742490C>T	HGMD:CM032969,OMIM Allelic Variant:300457.0003	C0796085 302350 Nance-Horan syndrome; CN221809 not provided
NM_198270.3(NHS):c.2387dupC (p.Ser797Phefs)	4810	NHS	Pathogenic	786205255	RCV000011770;	N	MedGen:C0796085,OMIM:302350,ORPHA:627,SNOMED CT:445257004	X	17744676	17744676	NM_198270.3:c.2387dupC	NP_938011.1:p.Ser797Phefs	NC_000023.10:g.17744676dupC	OMIM Allelic Variant:300457.0001	C0796085 302350 Nance-Horan syndrome
NM_198270.3(NHS):c.3459delC (p.Leu1154Cysfs)	4810	NHS	Pathogenic	786205256	RCV000011771;	N	MedGen:C0796085,OMIM:302350,ORPHA:627,SNOMED CT:445257004	X	17745748	17745748	NM_198270.3:c.3459delC	NP_938011.1:p.Leu1154Cysfs	NC_000023.10:g.17745748delC	OMIM Allelic Variant:300457.0002	C0796085 302350 Nance-Horan syndrome