MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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: Craniofacial Abnormalities (D019465)
..Starting node ..Frontonasal dysplasia (C538065)
Child Nodes:
Sister Nodes:
..22q11 Deletion Syndrome (D058165) 5
..3C syndrome (C535313)
..Abidi X-linked mental retardation syndrome (C535556)
..ALAZAMI SYNDROME (OMIM:615071)
..ALAZAMI-YUAN SYNDROME (OMIM:617126)
..Alopecia, epilepsy, pyorrhea, mental subnormality (C537057)
..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..Arthrogryposis multiplex congenita whistling face (C538401)
..Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385)
..Arthrogryposis-like hand anomaly and sensorineural deafness (C535386)
..Arthropathy, Erosive (C565273)
..Asymmetric Short Stature Syndrome (C566248)
..AU-KLINE SYNDROME (OMIM:616580)
..AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
..AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..Baker Vinters syndrome (C537899)
..Birk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
..Blepharochalasis And Double Lip (C562742)
..Blepharophimosis with Facial and Genital Anomalies and Mental Retardation (C565797)
..Brachymesomelia renal syndrome (C537096)
..Brachyphalangy, polydactyly, and tibial aplasia-hypoplasia (C537100)
..Brachytelephalangy characteristic facies Kallmann (C537101)
..Branchial Cleft Anomalies (C562384)
..Calvarial hyperostosis (C537963)
..Camptodactyly syndrome Guadalajara type 2 (C537971)
..Cerebrofrontofacial Syndrome (C563904)
..Cerebrooculofacioskeletal Syndrome 2 (C565185)
..Cerebrooculofacioskeletal Syndrome 4 (C565184)
..Cerebrooculonasal Syndrome (C565313)
..CHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
..Chromosome 18 Pericentric Inversion (C563734)
..Chromosome 2p16.1-P15 Deletion Syndrome (C567289)
..Chromosome 2q31.2 Deletion Syndrome (C567344)
..CHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230)
..Chromosome Xq28 Duplication Syndrome (C567580)
..Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427)
..Cleidocranial Dysplasia (D002973) 5
..COCOON SYNDROME (OMIM:613630)
..CODAS syndrome (C536434)
..Combined Oxidative Phosphorylation Deficiency 2 (C566468) L: 00096;
..Congenital Cataracts, Facial Dysmorphism, And Neuropathy (C565822)
..CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
..CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
..CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Costello Syndrome (D056685)
..COUSIN SYNDROME (OMIM:260660)
..Cranioacrofacial Syndrome (C565147)
..Craniodiaphyseal Dysplasia (C562940)
..Craniodiaphyseal Dysplasia, Autosomal Dominant (C567275)
..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
..Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells (C565731)
..Craniofacial deafness hand syndrome (C536453)
..Craniofacial Dysostosis (D003394) 68
..Craniofacial dyssynostosis (C536455)
..Craniofacioskeletal Syndrome (C567471)
..Craniofrontonasal dysplasia (C536456)
..Craniolenticulosutural Dysplasia (C564332)
..Craniomicromelic Syndrome (C566522)
..Craniorhiny (C565144)
..Craniosynostoses (D003398) 64
..Curly hair-acral keratoderma-caries syndrome (C536220)
..DESANTO-SHINAWI SYNDROME (OMIM:616708)
..Desbuquois syndrome (C535943)
..DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR (OMIM:616901)
..Diaphanospondylodysostosis (C564305)
..Digitorenocerebral Syndrome (C563052)
..Donohue Syndrome (D056731) 1
..Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism (C563293)
..EVEN-PLUS SYNDROME (OMIM:616854)
..Exchondrosis Of Pinna, Posterior (C565036)
..Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis (C567195)
..Facial Dysmorphism with Multiple Malformations (C565579)
..Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly (C566524)
..FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
..Faciocardiomelic Syndrome (C567176)
..Fg Syndrome 5 (C564480)
..Floating-harbor syndrome (C537062)
..Forebrain Defects (C566067)
..Fountain syndrome (C537270)
..Fragile Site 16p12 (C565001)
..Fraser-Like Syndrome (C565562)
..Fronto-facio-nasal dysplasia (C538063)
..Frontonasal dysplasia (C538065) 3
..Frontoocular Syndrome (C565340)
..Frontootopalatodigital Osteodysplasia (C567578)
..Fryns-Aftimos Syndrome (C565258)
..Game Friedman Paradice syndrome (C535406)
..Genitopatellar Syndrome (C565255)
..Goldberg-Shprintzen megacolon syndrome (C537279)
..Gomez Lopez Hernandez syndrome (C537285)
..Gorlin Chaudhry Moss syndrome (C537290)
..Gracile bone dysplasia (C537291)
..Grant syndrome (C537293)
..Hall Riggs mental retardation syndrome (C535623)
..Hanhart syndrome (C535629)
..Harrod Doman Keele syndrome (C535635)
..Haspeslagh Fryns Muelenaere syndrome (C535844)
..Hecht Scott syndrome (C535856)
..Hennekam lymphangiectasia lymphedema syndrome (C537255)
..Holoprosencephaly (D016142) 22
..Humeroradial Synostosis with Craniofacial Anomalies (C566888)
..Hypotonia-Cystinuria Syndrome (C564710) L: 00416;
..Ichthyosis cheek eyebrow syndrome (C536084)
..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
..Jequier Kozlowski skeletal dysplasia (C537569)
..Jones Hersh Yusk syndrome (C535885)
..Kapur Toriello syndrome (C537008)
..KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
..Kleefstra Syndrome (C563043)
..KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
..KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
..Kosztolanyi syndrome (C537024)
..Larsen syndrome, dominant type (C537873)
..Leichtman Wood Rohn syndrome (C537003)
..LEOPARD Syndrome (D044542) 2
..LIG4 Syndrome (C564694)
..LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
..Loeys-Dietz Syndrome (D055947) 5
..Lujan Fryns syndrome (C537724)
..Malpuech facial clefting syndrome (C535704)
..Mandibuloacral dysplasia with type B lipodystrophy (C535706)
..Mandibulofacial Dysostosis Syndrome, Bauru Type (C565744)
..Mandibulofacial Dysostosis with Macroblepharon and Macrostomia (C566520)
..Marshall syndrome (C536025)
..Marshall-Smith syndrome (C536026)
..Maxillofacial Abnormalities (D019767) 169
..Megalencephaly (D058627) 23
..MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
..Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810)
..Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism (C565246)
..Microcephaly (D008831) 140 C:1
..Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation (C566361)
..Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
..MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
..Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..Morillo-Cucci Passarge syndrome (C536983)
..MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM (OMIM:300845)
..MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
..Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency (C563829)
..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..Nablus mask-like facial syndrome (C536110)
..Neurofaciodigitorenal syndrome (C537388)
..NF1 Microdeletion Syndrome (C563524)
..Noonan Syndrome (D009634) 12
..Oculoauriculofrontonasal syndrome (C537865)
..Oculocerebral hypopigmentation syndrome type Preus (C537866)
..Oculodentodigital Dysplasia (C563160)
..Oculodentodigital Dysplasia, Autosomal Recessive (C567605)
..Oculootofacial Dysplasia (C563682)
..Orbital Margin, Hypoplasia of (C563490)
..Orofaciodigital Syndromes (D009958) 14
..Oto-Palato-digital syndrome type 1 (C536065)
..Oto-palato-digital syndrome, type 2 (C538089)
..Otocephaly (C562503)
..Otofacioosseous-Gonadal Syndrome (C566597)
..Otopalatodigital Spectrum Disorder (C567577)
..Pallister W syndrome (C538106)
..Pashayan syndrome (C536303)
..Pitt-Hopkins-Like Syndrome 1 (C567657)
..Plagiocephaly (D059041) 66
..Platybasia (D010985) 1
..Pointer syndrome (C536323)
..Potato nose (C538354)
..Preauricular Fistulae, Congenital (C563015)
..Prieto X-linked mental retardation syndrome (C535274)
..Pseudoaminopterin syndrome (C535823)
..Reardon Hall Slaney syndrome (C535294)
..Riddle Syndrome (C567453)
..Roberts Syndrome (C535687)
..Robinow Syndrome, Autosomal Dominant (C562492)
..Rommen Mueller Sybert syndrome (C535871)
..Rozin Hertz Goodman syndrome (C535876)
..Rubinstein-Taybi Syndrome (D012415) 2
..Say Meyer syndrome (C536620)
..SCARF syndrome (C536625)
..Schaefer Stein Oshman syndrome (C536627)
..Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias (C563509)
..Schinzel-Giedion syndrome (C536632)
..Schwartz-Lelek syndrome (C537519)
..Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
..Seaver Cassidy syndrome (C537529)
..Seckel like syndrome type Buebel (C537532)
..Sener syndrome (C537579)
..Short Stature And Facioauriculothoracic Malformations (C566457)
..Short Stature-Obesity Syndrome (C564821)
..Silver-Russell Syndrome (D056730) 1
..Simosa cranio facial syndrome (C537339)
..Sonoda syndrome (C536680)
..Splenogonadal fusion limb defects micrognatia (C537318)
..Spondyloepimetaphyseal Dysplasia, Aggrecan Type (C567558)
..Spondyloocular Syndrome, Autosomal Recessive (C565285)
..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..Teebi Shaltout syndrome (C536950)
..Teebi syndrome (C536951)
..Telecanthus (C562941)
..Temtamy syndrome (C536959)
..Ter Haar syndrome (C537274)
..Tetrasomy X (C536502)
..Tollner Horst Manzke syndrome (C536964)
..Tricho-dento-osseous syndrome (C536549)
..TRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..Urioste Martinez-Frias syndrome (C536478)
..Van Bogaert-Hozay syndrome (C536526)
..Van Buchem disease type 2 (C536527)
..Van Maldergem Wetzburger Verloes syndrome (C536530)
..VERHEIJ SYNDROME (OMIM:615583)
..Vertebral body fusion overgrowth (C536543)
..Viljoen Kallis Voges syndrome (C536349)
..Weaver syndrome (C536687)
..Weaver-Like Syndrome (C562443)
..Wiedemann Grosse Dibbern syndrome (C536704)
..WIEDEMANN-STEINER SYNDROME (OMIM:605130)
..Winter Shortland Temple syndrome (C536735)
..WITTEVEEN-KOLK SYNDROME (OMIM:613406)
..Zimmerman Laband syndrome (C536725)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4883

Name:

Frontonasal dysplasia

Definition:

Alternative IDs:

OMIM:136760|OMIM:613451|OMIM:613456

ParentIDs:

MESH:D019465

TreeNumbers:

C05.660.207/C538065 |C16.131.621.207/C538065

Synonyms:

FND |FND1 |FND2 |FND3 |FNM |FRONTONASAL DYSPLASIA |FRONTONASAL DYSPLASIA 1 |FRONTONASAL DYSPLASIA 2 |FRONTONASAL DYSPLASIA 3 |Frontonasal Malformation |Frontorhiny |Median facial cleft syndrome

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C538065
MeSH: C538065
OMIM: 136760;
MSeqDR :
Genes: ALX1; ALX3; ALX4;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001274	Agenesis of corpus callosum
3	HP:0006992	Anterior basal encephalocele
4	HP:0000456	Bifid nasal tip
5	HP:0001156	Brachydactyly
6	HP:0000455	Broad nasal tip
7	HP:0012385	Camptodactyly
8	HP:0000518	Cataract NAMDC: Cataracts
9	HP:0030084	Clinodactyly
10	HP:0000589	Coloboma
11	HP:0000405	Conductive hearing impairment
12	HP:0004423	Cranium bifidum occultum
13	HP:0000286	Epicanthus
14	HP:0007541	Frontal cutaneous lipoma
15	HP:0000316	Hypertelorism
16	HP:0000327	Hypoplasia of the maxilla
17	HP:0002738	Hypoplastic frontal sinuses
18	HP:0001249	Intellectual disability
19	HP:0009473	Joint contracture of the hand
20	HP:0006931	Lipoma of corpus callosum
21	HP:0000369	Low-set ears
22	HP:0000161	Median cleft lip
23	HP:0009099	Median cleft palate
24	HP:0000568	Microphthalmia
25	HP:0005258	Pectoral muscle hypoplasia/aplasia
26	HP:0001162	Postaxial hand polydactyly
27	HP:0000384	Preauricular skin tag
28	HP:0000508	Ptosis NAMDC: Ptosis
29	HP:0009466	Radial deviation of finger
30	HP:0002000	Short columella
31	HP:0003745	Sporadic
32	HP:0001636	Tetralogy of Fallot
33	HP:0000431	Wide nasal bridge
34	HP:0001566	Widely-spaced maxillary central incisors
35	HP:0000349	Widow's peak

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_006492.3(ALX3):c.736_737del (p.Leu246fs)	257	ALX3	Likely pathogenic	rs1553196068	RCV000677633;	N	MONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474	1	110603650	110603651	CAG	C	1:g.110603650_110603651del	-
NM_006492.3(ALX3):c.608A>G (p.Asn203Ser)	257	ALX3	Pathogenic	rs121908166	RCV000004906;	N	MONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474	1	110604172	110604172	T	C	1:g.110604172T>C	ClinGen:CA116980,UniProtKB:O95076#VAR_063229,OMIM:606014.0002	C1876203 136760 Frontonasal dysplasia 1;
NM_006492.3(ALX3):c.595-2A>T	257	ALX3	Pathogenic	rs1570936479	RCV000004905;	N	MONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474	1	110604187	110604187	T	A	1:g.110604187T>A	OMIM:606014.0001
NM_006492.3(ALX3):c.586C>T (p.Arg196Trp)	257	ALX3	Pathogenic	rs121908170	RCV000004911;	N	MONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474	1	110607217	110607217	G	A	1:g.110607217G>A	ClinGen:CA116986,UniProtKB:O95076#VAR_063228,OMIM:606014.0007	C1876203 136760 Frontonasal dysplasia 1;
NM_006492.3(ALX3):c.578_581del (p.Thr193fs)	257	ALX3	Pathogenic	rs387906319	RCV000004910;	N	MONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474	1	110607222	110607225	CTCAG	C	1:g.110607222_110607225del	ClinGen:CA116985,OMIM:606014.0006	C1876203 136760 Frontonasal dysplasia 1;
NM_006492.3(ALX3):c.547C>T (p.Arg183Trp)	257	ALX3	Pathogenic	rs121908168	RCV000004908;	N	MONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474	1	110607256	110607256	G	A	1:g.110607256G>A	OMIM:606014.0004,ClinGen:CA116982,UniProtKB:O95076#VAR_063227	C1876203 136760 Frontonasal dysplasia 1;
NM_006492.3(ALX3):c.543T>A (p.Tyr181Ter)	257	ALX3	Pathogenic	rs121908169	RCV000004909;	N	MONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474	1	110607260	110607260	A	T	1:g.110607260A>T	ClinGen:CA116983,OMIM:606014.0005	C1876203 136760 Frontonasal dysplasia 1;
NM_006492.3(ALX3):c.502C>G (p.Leu168Val)	257	ALX3	Pathogenic	rs121908167	RCV000004907;	N	MONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474	1	110607301	110607301	G	C	1:g.110607301G>C	ClinGen:CA116981,UniProtKB:O95076#VAR_063226,OMIM:606014.0003	C1876203 136760 Frontonasal dysplasia 1;
NM_006492.3(ALX3):c.277+33C>T	257	ALX3	Benign	-1	RCV001548883\|RCV001647413;	N	MONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474\|MedGen:CN517202	1	110612925	110612925	G	A	110612925	-

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