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:
expandAlopecia (D000505)
Parent Node:
expandCraniosynostoses (D003398)
Parent Node:
expandCryptorchidism (D003456)
Parent Node:
expandDiseases (C)
Parent Node:
expandFrontonasal dysplasia (C538065)
Parent Node:
expandHypertelorism (D006972)
..Starting node
..expandFRONTONASAL DYSPLASIA 2 (OMIM:613451)

       Child Nodes:



 Sister Nodes: 
..expandAcrootoocular Syndrome (C564866)
..expandAtrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects (C566351)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandBagatelle Cassidy syndrome (C537796)
..expandBarber Say syndrome (C537908)
..expandBrachycephalofrontonasal dysplasia (C537085)
..expandCamptodactyly Syndrome, Guadalajara, Type II (C567138)
..expandCamptodactyly Syndrome, Guadalajara, Type III (C567455)
..expandChromosome 6pter-P24 Deletion Syndrome (C567239)
..expandDe Hauwere Leroy Adriaenssens syndrome (C535991)
..expandFacial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
..expandFRONTONASAL DYSPLASIA 1 (OMIM:136760)
..expandFRONTONASAL DYSPLASIA 2 (OMIM:613451)
..expandFRONTONASAL DYSPLASIA 3 (OMIM:613456)
..expandGastrocutaneous syndrome (C535651)
..expandHirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..expandHYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
..expandHypertelorism and tetralogy of Fallot (C538386)
..expandHypertelorism with esophageal abnormality and hypospadias (C538387)
..expandHYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
..expandHypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
..expandHypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss (C566373)
..expandKrauss Herman Holmes syndrome (C537618)
..expandMarles Greenberg Persaud syndrome (C536022)
..expandNaguib-Richieri-Costa syndrome (C538332)
..expandOpitz GBBB Syndrome, X-Linked (C567932)
..expandPolycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
..expandRoberts Syndrome (C535687)
..expandSantos Mateus Leal syndrome (C537235)
..expandSchwartz-Lelek syndrome (C537519)
..expandSeaver Cassidy syndrome (C537529)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4431
Name:FRONTONASAL DYSPLASIA 2
Definition:
Alternative IDs:
ParentIDs:MESH:C538065|MESH:D000505|MESH:D003398|MESH:D003456|MESH:D006972
TreeNumbers:C05.116.099.370.231.480/613451 |C05.116.099.370.894.232/613451 |C05.660.207.231.480/613451 |C05.660.207.240/613451 |C05.660.207.707.249/613451 |C05.660.207/C538065/613451 |C05.660.906.364/613451 |C12.294.829.258/613451 |C12.706.258/613451 |C16.131.621.207.231.480
Synonyms:FND2
Slim Mappings:Congenital abnormality|Endocrine system disease|Musculoskeletal disease|Pathology (anatomical condition)|Skin disease|Urogenital disease (male)
Reference: MedGen: 613451
MeSH: 613451
OMIM: 613451;

Genes: ALX4;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001596AlopeciaHP:0040283
3 HP:0000456Bifid nasal tip
4 HP:0001320Cerebellar vermis hypoplasia
5 HP:0001363Craniosynostosis
6 HP:0000633Decreased lacrimationHP:0040283
7 HP:0005280Depressed nasal bridge
8 HP:0000457Depressed nasal ridge
9 HP:0002084Encephalocele
10 HP:0000316Hypertelorism
11 HP:0000966HypohidrosisHP:0040283
12 HP:0002079Hypoplasia of the corpus callosum
13 HP:0001249Intellectual disabilityHP:0040283
14 HP:0000252Microcephaly
15 HP:0002697Parietal foramina
16 HP:0012745Short palpebral fissure
17 HP:0000535Sparse and thin eyebrow
18 HP:0000653Sparse eyelashes
19 HP:0000582Upslanted palpebral fissure
20 HP:0003828Variable expressivity
21 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_021926.3(ALX4):c.793C>T (p.Arg265Ter)60529ALX4Pathogenic267606653RCV000005323; NMedGen:C3150703,OMIM:613451,ORPHA:228390114428915744289157NM_021926.3:c.793C>TNP_068745.2:p.Arg265TerNC_000011.9:g.44289157G>AOMIM Allelic Variant:605420.0008C3150703 613451 Frontonasal dysplasia 2
NM_021926.3(ALX4):c.673C>G (p.Gln225Glu)60529ALX4Pathogenic587777701RCV000144037; NMedGen:C3150703,OMIM:613451,ORPHA:228390114429700244297002NM_021926.3:c.673C>GNP_068745.2:p.Gln225Glu11:g.44297002G>COMIM Allelic Variant:605420.0011C3150703 613451 Frontonasal dysplasia 2
NM_021926.3(ALX4):c.291delG (p.Gln98Serfs)60529ALX4Pathogenic869320717RCV000210924; NMedGen:C3150703,OMIM:613451,ORPHA:228390114433132244331322NM_021926.3:c.291delGNP_068745.2:p.Gln98SerfsNC_000011.9:g.44331322delC-C3150703 613451 Frontonasal dysplasia 2