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:
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Craniofacial Abnormalities (D019465)
..Starting node
..expand
Frontonasal dysplasia (C538065)

       Child Nodes:



 Sister Nodes: 
..expand22q11 Deletion Syndrome (D058165) Child5
..expand3C syndrome (C535313)
..expandAbidi X-linked mental retardation syndrome (C535556)
..expandALAZAMI SYNDROME (OMIM:615071)
..expandALAZAMI-YUAN SYNDROME (OMIM:617126)
..expandAlopecia, epilepsy, pyorrhea, mental subnormality (C537057)
..expandAlport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..expandArthrogryposis multiplex congenita whistling face (C538401)
..expandArthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385)
..expandArthrogryposis-like hand anomaly and sensorineural deafness (C535386)
..expandArthropathy, Erosive (C565273)
..expandAsymmetric Short Stature Syndrome (C566248)
..expandAU-KLINE SYNDROME (OMIM:616580)
..expandAUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
..expandAXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
..expandB-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..expandBaker Vinters syndrome (C537899)
..expandBirk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
..expandBlepharochalasis And Double Lip (C562742)
..expandBlepharophimosis with Facial and Genital Anomalies and Mental Retardation (C565797)
..expandBrachymesomelia renal syndrome (C537096)
..expandBrachyphalangy, polydactyly, and tibial aplasia-hypoplasia (C537100)
..expandBrachytelephalangy characteristic facies Kallmann (C537101)
..expandBranchial Cleft Anomalies (C562384)
..expandCalvarial hyperostosis (C537963)
..expandCamptodactyly syndrome Guadalajara type 2 (C537971)
..expandCerebrofrontofacial Syndrome (C563904)
..expandCerebrooculofacioskeletal Syndrome 2 (C565185)
..expandCerebrooculofacioskeletal Syndrome 4 (C565184)
..expandCerebrooculonasal Syndrome (C565313)
..expandCHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
..expandChromosome 18 Pericentric Inversion (C563734)
..expandChromosome 2p16.1-P15 Deletion Syndrome (C567289)
..expandChromosome 2q31.2 Deletion Syndrome (C567344)
..expandCHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230)
..expandChromosome Xq28 Duplication Syndrome (C567580)
..expandCleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427)
..expandCleidocranial Dysplasia (D002973) Child5
..expandCOCOON SYNDROME (OMIM:613630)
..expandCODAS syndrome (C536434)
..expandCombined Oxidative Phosphorylation Deficiency 2 (C566468)  LSDB  L: 00096;
..expandCongenital Cataracts, Facial Dysmorphism, And Neuropathy (C565822)
..expandCONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
..expandCONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
..expandCORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA (OMIM:616819)
..expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..expandCostello Syndrome (D056685)
..expandCOUSIN SYNDROME (OMIM:260660)
..expandCranioacrofacial Syndrome (C565147)
..expandCraniodiaphyseal Dysplasia (C562940)
..expandCraniodiaphyseal Dysplasia, Autosomal Dominant (C567275)
..expandCraniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..expandCRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
..expandCraniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells (C565731)
..expandCraniofacial deafness hand syndrome (C536453)
..expandCraniofacial Dysostosis (D003394) Child68
..expandCraniofacial dyssynostosis (C536455)
..expandCraniofacioskeletal Syndrome (C567471)
..expandCraniofrontonasal dysplasia (C536456)
..expandCraniolenticulosutural Dysplasia (C564332)
..expandCraniomicromelic Syndrome (C566522)
..expandCraniorhiny (C565144)
..expandCraniosynostoses (D003398) Child64
..expandCurly hair-acral keratoderma-caries syndrome (C536220)
..expandDESANTO-SHINAWI SYNDROME (OMIM:616708)
..expandDesbuquois syndrome (C535943)
..expandDEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR (OMIM:616901)
..expandDiaphanospondylodysostosis (C564305)
..expandDigitorenocerebral Syndrome (C563052)
..expandDonohue Syndrome (D056731) Child1
..expandEctopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism (C563293)
..expandEVEN-PLUS SYNDROME (OMIM:616854)
..expandExchondrosis Of Pinna, Posterior (C565036)
..expandExocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis (C567195)
..expandFacial Dysmorphism with Multiple Malformations (C565579)
..expandFacial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly (C566524)
..expandFACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE (OMIM:615139)
..expandFaciocardiomelic Syndrome (C567176)
..expandFg Syndrome 5 (C564480)
..expandFloating-harbor syndrome (C537062)
..expandForebrain Defects (C566067)
..expandFountain syndrome (C537270)
..expandFragile Site 16p12 (C565001)
..expandFraser-Like Syndrome (C565562)
..expandFronto-facio-nasal dysplasia (C538063)
..expandFrontonasal dysplasia (C538065) Child3
..expandFrontoocular Syndrome (C565340)
..expandFrontootopalatodigital Osteodysplasia (C567578)
..expandFryns-Aftimos Syndrome (C565258)
..expandGame Friedman Paradice syndrome (C535406)
..expandGenitopatellar Syndrome (C565255)
..expandGoldberg-Shprintzen megacolon syndrome (C537279)
..expandGomez Lopez Hernandez syndrome (C537285)
..expandGorlin Chaudhry Moss syndrome (C537290)
..expandGracile bone dysplasia (C537291)
..expandGrant syndrome (C537293)
..expandHall Riggs mental retardation syndrome (C535623)
..expandHanhart syndrome (C535629)
..expandHarrod Doman Keele syndrome (C535635)
..expandHaspeslagh Fryns Muelenaere syndrome (C535844)
..expandHecht Scott syndrome (C535856)
..expandHennekam lymphangiectasia lymphedema syndrome (C537255)
..expandHoloprosencephaly (D016142) Child22
..expandHumeroradial Synostosis with Craniofacial Anomalies (C566888)
..expandHypotonia-Cystinuria Syndrome (C564710)  LSDB  L: 00416;
..expandIchthyosis cheek eyebrow syndrome (C536084)
..expandIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
..expandIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (OMIM:614069)
..expandIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
..expandIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
..expandJequier Kozlowski skeletal dysplasia (C537569)
..expandJones Hersh Yusk syndrome (C535885)
..expandKapur Toriello syndrome (C537008)
..expandKEPPEN-LUBINSKY SYNDROME (OMIM:614098)
..expandKleefstra Syndrome (C563043)
..expandKLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
..expandKOSAKI OVERGROWTH SYNDROME (OMIM:616592)
..expandKosztolanyi syndrome (C537024)
..expandLarsen syndrome, dominant type (C537873)
..expandLeichtman Wood Rohn syndrome (C537003)
..expandLEOPARD Syndrome (D044542) Child2
..expandLIG4 Syndrome (C564694)
..expandLINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
..expandLoeys-Dietz Syndrome (D055947) Child5
..expandLujan Fryns syndrome (C537724)
..expandMalpuech facial clefting syndrome (C535704)
..expandMandibuloacral dysplasia with type B lipodystrophy (C535706)
..expandMandibulofacial Dysostosis Syndrome, Bauru Type (C565744)
..expandMandibulofacial Dysostosis with Macroblepharon and Macrostomia (C566520)
..expandMarshall syndrome (C536025)
..expandMarshall-Smith syndrome (C536026)
..expandMaxillofacial Abnormalities (D019767) Child169
..expandMegalencephaly (D058627) Child23
..expandMENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
..expandMental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810)
..expandMental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism (C565246)
..expandMicrocephaly (D008831) Child140  LSDB C:1
..expandMicrocephaly, Facial Abnormalities, Micromelia, and Mental Retardation (C566361)
..expandMicrophthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
..expandMIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
..expandMidface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..expandMorillo-Cucci Passarge syndrome (C536983)
..expandMOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM (OMIM:300845)
..expandMULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS (OMIM:245600)
..expandMyasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency (C563829)
..expandMyelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..expandNablus mask-like facial syndrome (C536110)
..expandNeurofaciodigitorenal syndrome (C537388)
..expandNF1 Microdeletion Syndrome (C563524)
..expandNoonan Syndrome (D009634) Child12
..expandOculoauriculofrontonasal syndrome (C537865)
..expandOculocerebral hypopigmentation syndrome type Preus (C537866)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculootofacial Dysplasia (C563682)
..expandOrbital Margin, Hypoplasia of (C563490)
..expandOrofaciodigital Syndromes (D009958) Child14
..expandOto-Palato-digital syndrome type 1 (C536065)
..expandOto-palato-digital syndrome, type 2 (C538089)
..expandOtocephaly (C562503)
..expandOtofacioosseous-Gonadal Syndrome (C566597)
..expandOtopalatodigital Spectrum Disorder (C567577)
..expandPallister W syndrome (C538106)
..expandPashayan syndrome (C536303)
..expandPitt-Hopkins-Like Syndrome 1 (C567657)
..expandPlagiocephaly (D059041) Child66
..expandPlatybasia (D010985) Child1
..expandPointer syndrome (C536323)
..expandPotato nose (C538354)
..expandPreauricular Fistulae, Congenital (C563015)
..expandPrieto X-linked mental retardation syndrome (C535274)
..expandPseudoaminopterin syndrome (C535823)
..expandReardon Hall Slaney syndrome (C535294)
..expandRiddle Syndrome (C567453)
..expandRoberts Syndrome (C535687)
..expandRobinow Syndrome, Autosomal Dominant (C562492)
..expandRommen Mueller Sybert syndrome (C535871)
..expandRozin Hertz Goodman syndrome (C535876)
..expandRubinstein-Taybi Syndrome (D012415) Child2
..expandSay Meyer syndrome (C536620)
..expandSCARF syndrome (C536625)
..expandSchaefer Stein Oshman syndrome (C536627)
..expandSchilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias (C563509)
..expandSchinzel-Giedion syndrome (C536632)
..expandSchwartz-Lelek syndrome (C537519)
..expandScimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
..expandSeaver Cassidy syndrome (C537529)
..expandSeckel like syndrome type Buebel (C537532)
..expandSener syndrome (C537579)
..expandShort Stature And Facioauriculothoracic Malformations (C566457)
..expandShort Stature-Obesity Syndrome (C564821)
..expandSilver-Russell Syndrome (D056730) Child1
..expandSimosa cranio facial syndrome (C537339)
..expandSonoda syndrome (C536680)
..expandSplenogonadal fusion limb defects micrognatia (C537318)
..expandSpondyloepimetaphyseal Dysplasia, Aggrecan Type (C567558)
..expandSpondyloocular Syndrome, Autosomal Recessive (C565285)
..expandStickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..expandTeebi Shaltout syndrome (C536950)
..expandTeebi syndrome (C536951)
..expandTelecanthus (C562941)
..expandTemtamy syndrome (C536959)
..expandTer Haar syndrome (C537274)
..expandTetrasomy X (C536502)
..expandTollner Horst Manzke syndrome (C536964)
..expandTricho-dento-osseous syndrome (C536549)
..expandTRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..expandUrioste Martinez-Frias syndrome (C536478)
..expandVan Bogaert-Hozay syndrome (C536526)
..expandVan Buchem disease type 2 (C536527)
..expandVan Maldergem Wetzburger Verloes syndrome (C536530)
..expandVERHEIJ SYNDROME (OMIM:615583)
..expandVertebral body fusion overgrowth (C536543)
..expandViljoen Kallis Voges syndrome (C536349)
..expandWeaver syndrome (C536687)
..expandWeaver-Like Syndrome (C562443)
..expandWiedemann Grosse Dibbern syndrome (C536704)
..expandWIEDEMANN-STEINER SYNDROME (OMIM:605130)
..expandWinter Shortland Temple syndrome (C536735)
..expandWITTEVEEN-KOLK SYNDROME (OMIM:613406)
..expandZimmerman 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 LSDB:  
Genes: ALX1; ALX3; ALX4;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001274Agenesis of corpus callosum
3 HP:0006992Anterior basal encephalocele
4 HP:0000456Bifid nasal tip
5 HP:0001156Brachydactyly
6 HP:0000455Broad nasal tip
7 HP:0012385Camptodactyly
8 HP:0000518Cataract
NAMDC:  Cataracts
9 HP:0030084Clinodactyly
10 HP:0000589Coloboma
11 HP:0000405Conductive hearing impairment
12 HP:0004423Cranium bifidum occultum
13 HP:0000286Epicanthus
14 HP:0007541Frontal cutaneous lipoma
15 HP:0000316Hypertelorism
16 HP:0000327Hypoplasia of the maxilla
17 HP:0002738Hypoplastic frontal sinuses
18 HP:0001249Intellectual disability
19 HP:0009473Joint contracture of the hand
20 HP:0006931Lipoma of corpus callosum
21 HP:0000369Low-set ears
22 HP:0000161Median cleft lip
23 HP:0009099Median cleft palate
24 HP:0000568Microphthalmia
25 HP:0005258Pectoral muscle hypoplasia/aplasia
26 HP:0001162Postaxial hand polydactyly
27 HP:0000384Preauricular skin tag
28 HP:0000508Ptosis
NAMDC:  Ptosis
29 HP:0009466Radial deviation of finger
30 HP:0002000Short columella
31 HP:0003745Sporadic
32 HP:0001636Tetralogy of Fallot
33 HP:0000431Wide nasal bridge
34 HP:0001566Widely-spaced maxillary central incisors
35 HP:0000349Widow's peak
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_006492.3(ALX3):c.736_737del (p.Leu246fs)257ALX3Likely pathogenicrs1553196068RCV000677633; NMONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:3914741110603650110603651CAGCNC_000001.10:g.110603650_110603651del-C1876203 136760 Frontonasal dysplasia 1;
NM_006492.3(ALX3):c.608A>G (p.Asn203Ser)257ALX3Pathogenicrs121908166RCV000004906; NMONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:3914741110604172110604172TC1:g.110604172T>CClinGen:CA116980,UniProtKB:O95076#VAR_063229,OMIM:606014.0002C1876203 136760 Frontonasal dysplasia 1;
NM_006492.3(ALX3):c.595-2A>T257ALX3Pathogenicrs1570936479RCV000004905; NMONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:3914741110604187110604187TANC_000001.10:g.110604187T>AOMIM:606014.0001C1876203 136760 Frontonasal dysplasia 1;
NM_006492.3(ALX3):c.586C>T (p.Arg196Trp)257ALX3Pathogenicrs121908170RCV000004911; NMONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:3914741110607217110607217GA1:g.110607217G>AClinGen:CA116986,UniProtKB:O95076#VAR_063228,OMIM:606014.0007C1876203 136760 Frontonasal dysplasia 1;
NM_006492.3(ALX3):c.578_581del (p.Thr193fs)257ALX3Pathogenicrs387906319RCV000004910; NMONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:3914741110607222110607225CTCAGC1:g.110607222_110607225delClinGen:CA116985,OMIM:606014.0006C1876203 136760 Frontonasal dysplasia 1;
NM_006492.3(ALX3):c.547C>T (p.Arg183Trp)257ALX3Pathogenicrs121908168RCV000004908; NMONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:3914741110607256110607256GA1:g.110607256G>AClinGen:CA116982,UniProtKB:O95076#VAR_063227,OMIM:606014.0004C1876203 136760 Frontonasal dysplasia 1;
NM_006492.3(ALX3):c.543T>A (p.Tyr181Ter)257ALX3Pathogenicrs121908169RCV000004909; NMONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:3914741110607260110607260AT1:g.110607260A>TClinGen:CA116983,OMIM:606014.0005C1876203 136760 Frontonasal dysplasia 1;
NM_006492.3(ALX3):c.502C>G (p.Leu168Val)257ALX3Pathogenicrs121908167RCV000004907; NMONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:3914741110607301110607301GC1:g.110607301G>CClinGen:CA116981,UniProtKB:O95076#VAR_063226,OMIM:606014.0003C1876203 136760 Frontonasal dysplasia 1;
NM_006492.3(ALX3):c.277+33C>T257ALX3Benign-1RCV001548883|RCV001647413; NMONDO:MONDO:0007636,MedGen:C1876203,OMIM:136760, Orphanet:391474|MedGen:CN5172021110612925110612925GA110612925-
MSeqDR Portal