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:
expandChromosome Disorders (D025063)
Parent Node:
expandCleft Palate (D002972)
Parent Node:
expandHeart Defects, Congenital (D006330)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandMuscle Hypotonia (D009123)
..Starting node
..expandEmanuel syndrome (C535733)

       Child Nodes:



 Sister Nodes: 
..expandAllan-Herndon-Dudley syndrome (C537047)
..expandAtonic-Astatic Syndrome of Foerster (C565926)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandBirk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
..expandCarnitine Acetyltransferase Deficiency (C563249)
..expandCohen syndrome (C536438)
..expandCombined Oxidative Phosphorylation Deficiency 3 (C566467)
..expandCreases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)
..expandDer Kaloustian Mcintosh Silver syndrome (C538217)
..expandEmanuel syndrome (C535733)
..expandEthanolaminosis (C562651)
..expandFumaric aciduria (C538191)
..expandGerman Syndrome (C562543)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
..expandHypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandHypotonia-Cystinuria Syndrome (C564710)
..expandJoubert Syndrome 10 (C567582)
..expandJoubert syndrome 3 (C536295)
..expandJoubert syndrome 5 (C537688)
..expandKetoadipicaciduria (C565453)
..expandMENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..expandMidface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..expandMiller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
..expandOpitz-Kaveggia syndrome (C537923)
..expandQazi Markouizos syndrome (C536259)
..expandRadioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..expandScalp ear nipple syndrome (C536623)
..expandThree M Syndrome 2 (C567862)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3694
Name:Emanuel syndrome
Definition:
Alternative IDs:OMIM:609029
ParentIDs:MESH:D002972|MESH:D006330|MESH:D008607|MESH:D009123|MESH:D025063
TreeNumbers:C05.500.460.185/C535733 |C05.660.207.540.460.185/C535733 |C07.320.440.185/C535733 |C07.465.525.185/C535733 |C07.650.500.460.185/C535733 |C07.650.525.185/C535733 |C10.597.606.643/C535733 |C10.597.613.575/C535733 |C14.240.400/C535733 |C14.280.400/C535733 |C16.131.24
Synonyms:22) SYNDROME |Der(22) Syndrome Due To 3:1 Meiotic Disjunction Events |Supernumary Der(22) Syndrome |Supernumary Der(22)T(11;22) Syndrome |Supernumary Derivative 22 Chromosome Syndrome |Supernumerary der(22) syndrome |SUPERNUMERARY DER(22)t(11 |Supernumerary der
Slim Mappings:Cardiovascular disease|Congenital abnormality|Genetic disease (inborn)|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C535733
MeSH: C535733
OMIM: 609029;

Genes: AF8T;
Phenotypes
1 HP:0001939Abnormality of metabolism/homeostasis
2 HP:0002023Anal atresia
3 HP:0001650Aortic valve stenosis
4 HP:0001631Atrial septal defect
5 HP:0012802Broad jaw
6 HP:0002059Cerebral atrophy
7 HP:0000175Cleft palate
8 HP:0000776Congenital diaphragmatic hernia
9 HP:0001374Congenital hip dislocation
10 HP:0002019Constipation
11 HP:0000028Cryptorchidism
12 HP:0000490Deeply set eye
13 HP:0000680Delayed eruption of primary teeth
14 HP:0000750Delayed speech and language development
15 HP:0000678Dental crowding
16 HP:0000324Facial asymmetry
17 HP:0011968Feeding difficulties
18 HP:0002020Gastroesophageal reflux
19 HP:0001290Generalized hypotonia
20 HP:0001263Global developmental delay
21 HP:0000365Hearing impairment
22 HP:0000218High palate
23 HP:0002079Hypoplasia of the corpus callosum
24 HP:0001252Hypotonia
25 HP:0000023Inguinal hernia
26 HP:0001249Intellectual disability
27 HP:0001511Intrauterine growth retardation
28 HP:0002808Kyphosis
29 HP:0000343Long philtrum
30 HP:0009765Low hanging columella
31 HP:0000369Low-set ears
32 HP:0002562Low-set nipples
33 HP:0000400Macrotia
34 HP:0000252Microcephaly
35 HP:0000347Micrognathia
36 HP:0000054Micropenis
37 HP:0000545Myopia
38 HP:0001643Patent ductus arteriosus
39 HP:0004467Preauricular pit
40 HP:0000384Preauricular skin tag
41 HP:0001642Pulmonic stenosis
42 HP:0000403Recurrent otitis media
43 HP:0002205Recurrent respiratory infections
44 HP:0000104Renal agenesis
45 HP:0000089Renal hypoplasia
46 HP:0002650Scoliosis
47 HP:0001250Seizure
48 HP:0001195Single umbilical artery
49 HP:0000486Strabismus
50 HP:0000474Thickened nuchal skin fold
51 HP:0001660Truncus arteriosus
52 HP:0000582Upslanted palpebral fissure
53 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants