Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandEye Abnormalities (D005124)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandHip Dislocation, Congenital (D006618)
Parent Node:
expandOsteochondrodysplasias (D010009)
Parent Node:
expandTooth Abnormalities (D014071)
..Starting node
..expandCODAS syndrome (C536434)

       Child Nodes:



 Sister Nodes: 
..expandAckerman syndrome (C538170)
..expandAnodontia (D000848) Child29
..expandAREDYLD Syndrome (C537427)
..expandBlepharo-cheilo-dontic syndrome (C536188)
..expandBook Syndrome (C562993)
..expandCarabelli Anomaly of Maxillary Molar Teeth (C566175)
..expandCleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only (C563974)
..expandCODAS syndrome (C536434)
..expandDeafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) (C548011)
..expandDeafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..expandDeafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..expandDens in Dente (D003719) Child1
..expandDental Enamel Hypoplasia (D003744) Child29
..expandDentin Dysplasia (D003805) Child3
..expandDentinogenesis Imperfecta (D003811) Child7
..expandDermoodontodysplasia (C565103)
..expandDiastema, Dental Medial (C565098)
..expandEuhidrotic ectodermal dysplasia (C535763)
..expandFacial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
..expandFaciocardiomelic Dysplasia, Lethal (C565578)
..expandFused Teeth (D005671)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHypoglossia-Hypodactylia (C566308)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandKallmann Syndrome 2 with Selective Tooth Agenesis (C566948)
..expandKBG syndrome (C537015)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandLarsen syndrome, dominant type (C537873)
..expandNance-Horan syndrome (C538336)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculotrichodysplasia (C564934)
..expandOdontodysplasia (D018126) Child3
..expandOdontomicronychial dysplasia (C537741)
..expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
..expandOroacral Syndrome, Verloes-Koulischer Type (C566374)
..expandOtodental Dysplasia (C563482)
..expandPolydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..expandRodrigues blindness (C535865)
..expandSpondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..expandTaurodontism (C536946)
..expandTaurodontism, microdontia, and dens invaginatus (C536947)
..expandTeeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
..expandTeeth, Odd Shapes Of (C566076)
..expandTemtamy preaxial brachydactyly syndrome (C536958)
..expandTooth Agenesis, Selective, 2 (C566513)
..expandTooth Agenesis, Selective, 3 (C567036)
..expandTooth Agenesis, Selective, 4 (C563634)
..expandTooth Agenesis, Selective, 5 (C565757)
..expandTooth Agenesis, Selective, 6 (C567755)
..expandTooth Agenesis, Selective, X-Linked, 1 (C567060)
..expandTooth, Supernumerary (D014096) Child3
..expandTricho-dento-osseous syndrome 1 (C536550)
..expandTRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..expandWeyers acrofacial dysostosis (C536695)
..expandZazam Sheriff Phillips syndrome (C536723)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2457
Name:CODAS syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D005124|MESH:D006130|MESH:D006618|MESH:D010009|MESH:D014071|MESH:D019465
TreeNumbers:C05.116.099.708/C536434 |C05.660.207/C536434 |C05.660.449/C536434 |C07.650.800/C536434 |C07.793.700/C536434 |C11.250/C536434 |C16.131.384/C536434 |C16.131.621.207/C536434 |C16.131.621.449/C536434 |C16.131.850.800/C536434 |C23.550.393/C536434
Synonyms:Cerebral, ocular, dental, auricular, and skeletal syndrome |Cerebral, Ocular, Dental, Auricular, Skeletal Anomalies Syndrome
Slim Mappings:Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease|Pathology (process)
Reference: MedGen: C536434
MeSH: C536434
OMIM: 600373;

Genes: LONP1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002023Anal atresiaHP:0040283
3 HP:0000463Anteverted nares
4 HP:0001631Atrial septal defect
5 HP:0006695Atrioventricular canal defect
6 HP:0002682Broad skull
7 HP:0001374Congenital hip dislocation
8 HP:0003417Coronal cleft vertebrae
9 HP:0000028CryptorchidismHP:0040283
10 HP:0000684Delayed eruption of teeth
11 HP:0001216Delayed ossification of carpal bones
12 HP:0002750Delayed skeletal maturation
13 HP:0005280Depressed nasal bridge
14 HP:0000519Developmental cataract
15 HP:0006297Enamel hypoplasia
16 HP:0001290Generalized hypotonia
17 HP:0002857Genu valgum
18 HP:0001263Global developmental delay
19 HP:0002079Hypoplasia of the corpus callosum
20 HP:0003311Hypoplasia of the odontoid process
21 HP:0001252Hypotonia
22 HP:0100255Metaphyseal dysplasia
23 HP:0001539OmphaloceleHP:0040283
24 HP:0008081Pes valgus
25 HP:0001561Polyhydramnios
26 HP:0009623Proximal placement of thumbHP:0040283
27 HP:0000508Ptosis
28 HP:0000143Rectovaginal fistulaHP:0040283
29 HP:0001250SeizureHP:0040283
30 HP:0000407Sensorineural hearing impairment
31 HP:0005792Short humerus
32 HP:0010049Short metacarpal
33 HP:0009803Short phalanx of finger
34 HP:0004322Short stature
35 HP:0003177Squared iliac bones
36 HP:0001629Ventricular septal defect
37 HP:0001604Vocal cord paresis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_004793.3(LONP1):c.2353A>G (p.Arg785Gly)9361LONP1Pathogenic730880293RCV000157620; NMedGen:C1838180,OMIM:600373,ORPHA:14581956937485693748NM_004793.3:c.2353A>GNP_004784.2:p.Arg785GlyNC_000019.9:g.5693748T>COMIM Allelic Variant:605490.0001C1838180 600373 CODAS syndrome