MCID: EMN001
MIFTS: 36

Emanuel Syndrome

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Emanuel Syndrome

MalaCards integrated aliases for Emanuel Syndrome:

Name: Emanuel Syndrome 58 25 54 26 60 38 13 74
Supernumerary Der(22)t(11;22) Syndrome 58 25 26
Supernumerary Der(22) Syndrome 54 26 60
Der(22) Syndrome Due to 3:1 Meiotic Disjunction Events 26
Supernumerary Derivative 22 Chromosome Syndrome 26
Supernumerary Der(22),t(11;22) Syndrome 54
Supernumerary Der(22)t(11 58
Der(22)t(11;22) Syndrome 60
22) Syndrome 58

Characteristics:

OMIM:

58
Inheritance:
inherited chromosomal imbalance

Miscellaneous:
risk of affected offspring in maternal translocation carrier - 4-10%
risk of affected offspring in paternal translocation carrier - 0-7%


GeneReviews:

25
Penetrance Penetrance is complete in individuals with the supernumerary der(22)...

Classifications:



Summaries for Emanuel Syndrome

NIH Rare Diseases : 54 Emanuel syndrome is a chromosomal disorder that is characterized by learning problems and stunted growth and development. The signs and symptoms are varied and may include decreased muscle tone (hypotonia) and developmental delay in childhood, intellectual disability severe, extremely small head (microcephaly), distinctive facial features, small jaw, ear anomalies, arched palate (roof of the mouth), cleft palate, heart defects, kidney malformations, and genital abnormalities (in males). Emanuel syndrome is caused by the presence of additional genetic material of the chromosomes 11 and 22 in each cell. This condition is usually inherited from a parent who has a balanced translocation between chromosomes 11 and 22. Treatment depends on the signs and symptoms present in the individual. People with Emanuel syndrome are typically by a team of several specialists.

MalaCards based summary : Emanuel Syndrome, also known as supernumerary der(22)t(11;22) syndrome, is related to ring chromosome 22 and heart disease, and has symptoms including seizures and constipation. An important gene associated with Emanuel Syndrome is DER22T11-22 (Emanuel Syndrome). Affiliated tissues include heart, kidney and skin, and related phenotypes are global developmental delay and low-set ears

Genetics Home Reference : 26 Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). Their development is significantly delayed, and most affected individuals have severe to profound intellectual disability.

OMIM : 58 Emanuel syndrome is characterized by multiple congenital anomalies, craniofacial dysmorphism, and significant developmental delay and mental retardation. Features include ear anomalies, preauricular tag or sinus, cleft or high-arched palate, micrognathia, microcephaly, kidney abnormalities, heart defects, and genital abnormalities in males (summary by Carter et al., 2009). Carriers of the balanced constitutional t(11;22) translocation are phenotypically normal but have a 10% risk of having progeny with supernumerary der(22)t(11;22) syndrome as a result of malsegregation of the der(22). The affected progeny are genotypically unbalanced because they carry the der(22) as a supernumerary chromosome--either 47,XX,+der(22)t(11;22) or 47,XY,+der(22)t(11;22) (Zackai and Emanuel, 1980; Lin et al., 1986). (609029)

Wikipedia : 77 Emanuel syndrome, also known as derivative 22 syndrome, or der(22) syndrome, is a rare disorder... more...

GeneReviews: NBK1263

Related Diseases for Emanuel Syndrome

Diseases related to Emanuel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 ring chromosome 22 11.2
2 heart disease 10.4
3 dandy-walker complex 10.3
4 diaphragmatic hernia, congenital 10.0
5 kabuki syndrome 1 10.0
6 supernumerary der(22)t(8 10.0
7 trisomy 22 9.8
8 schizophrenia 9.5
9 digeorge syndrome 9.5
10 heparin cofactor ii deficiency 9.5
11 pseudohypoparathyroidism 9.5
12 chromosomal triplication 9.5
13 acute monoblastic leukemia 9.4 LOC108449888 LOC108449897

Graphical network of the top 20 diseases related to Emanuel Syndrome:



Diseases related to Emanuel Syndrome

Symptoms & Phenotypes for Emanuel Syndrome

Human phenotypes related to Emanuel Syndrome:

60 33 (show top 50) (show all 88)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
2 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
3 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
4 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
5 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
6 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
7 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
8 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
9 macrotia 60 33 frequent (33%) Frequent (79-30%) HP:0000400
10 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
11 delayed speech and language development 60 33 frequent (33%) Frequent (79-30%) HP:0000750
12 gastroesophageal reflux 60 33 frequent (33%) Frequent (79-30%) HP:0002020
13 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
14 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
15 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
16 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
17 delayed eruption of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000684
18 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
19 recurrent otitis media 60 33 frequent (33%) Frequent (79-30%) HP:0000403
20 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
21 congenital hip dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0001374
22 kyphoscoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002751
23 hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000135
24 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
25 dental crowding 60 33 frequent (33%) Frequent (79-30%) HP:0000678
26 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
27 truncus arteriosus 60 33 frequent (33%) Frequent (79-30%) HP:0001660
28 pulmonic stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0001642
29 preauricular skin tag 60 33 frequent (33%) Frequent (79-30%) HP:0000384
30 infertility 60 33 frequent (33%) Frequent (79-30%) HP:0000789
31 supernumerary ribs 60 33 frequent (33%) Frequent (79-30%) HP:0005815
32 preauricular pit 60 33 frequent (33%) Frequent (79-30%) HP:0004467
33 ectopic anus 60 33 frequent (33%) Frequent (79-30%) HP:0004397
34 micropenis 60 33 frequent (33%) Frequent (79-30%) HP:0000054
35 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
36 aortic valve stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0001650
37 single umbilical artery 60 33 frequent (33%) Frequent (79-30%) HP:0001195
38 broad jaw 60 33 frequent (33%) Frequent (79-30%) HP:0012802
39 cerebral atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002059
40 low-set nipples 60 33 frequent (33%) Frequent (79-30%) HP:0002562
41 low hanging columella 60 33 frequent (33%) Frequent (79-30%) HP:0009765
42 hooded eyelid 60 33 frequent (33%) Frequent (79-30%) HP:0030820
43 agenesis of corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0001274
44 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
45 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
46 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
47 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
48 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
49 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
50 intrauterine growth retardation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001511

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
recurrent otitis media
hearing loss
large ears
preauricular tag
more
Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
feeding difficulties
imperforate anus
tight anal sphincter
more
Genitourinary External Genitalia Male:
inguinal hernia
micropenis

Head And Neck Head:
microcephaly

Head And Neck Face:
long philtrum
micrognathia
asymmetric facies
broad mandible

Cardiovascular Vascular:
patent ductus arteriosus
truncus arteriosus

Skeletal Pelvis:
congenital hip dislocation

Head And Neck Teeth:
delayed eruption of primary teeth
crowded teeth
misaligned teeth

Head And Neck Nose:
low hanging columella

Genitourinary Kidneys:
absent kidney
hypoplastic kidney

Chest Diaphragm:
diaphragmatic hernia

Genitourinary Internal Genitalia Male:
undescended testis

Neurologic Central Nervous System:
seizures
global developmental delay
cerebral atrophy
hypotonia
mental retardation
more
Skeletal Spine:
scoliosis
kyphosis

Respiratory:
recurrent respiratory infections

Head And Neck Mouth:
cleft palate
high-arched palate

Head And Neck Eyes:
strabismus
myopia
deep-set eyes
upslanting palpebral fissures
hooded eyelids

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
pulmonic stenosis
aortic stenosis

Prenatal Manifestations Placenta And Umbilical Cord:
single umbilical artery

Chest Breasts:
low-set nipples

Growth Other:
prenatal growth retardation

Head And Neck Neck:
excess nuchal skin

Chest Ribs Sternum Clavicles And Scapulae:
13 pairs of ribs

Laboratory Abnormalities:
patients have supernumerary chromosome - 47,xx(or xy), +der(22), +(11:22)(q23:q11)
carriers have balanced constitutional translocation - 46,xx(or xy), +(11:22)(q23:q11)

Clinical features from OMIM:

609029

UMLS symptoms related to Emanuel Syndrome:


seizures, constipation

Drugs & Therapeutics for Emanuel Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Emanuel Syndrome

Genetic Tests for Emanuel Syndrome

Anatomical Context for Emanuel Syndrome

MalaCards organs/tissues related to Emanuel Syndrome:

42
Heart, Kidney, Skin, Eye, Testis

Publications for Emanuel Syndrome

Articles related to Emanuel Syndrome:

(show all 21)
# Title Authors Year
1
Oral and dental findings in emanuel syndrome. ( 30980693 )
2019
2
Ocular manifestations of Emanuel syndrome. ( 30178914 )
2018
3
A clinical and molecular analysis of a patient with Emanuel syndrome. ( 28075445 )
2017
4
Anesthetic Management of a Patient With Emanuel Syndrome. ( 27973931 )
2016
5
Anesthetic management of pediatric patients with Emanuel syndrome. ( 25603733 )
2015
6
Emanuel Syndrome (ES): new case-report and review of the literature. ( 26076791 )
2015
7
Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome. ( 26167235 )
2015
8
A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother. ( 27785401 )
2015
9
Prevalence of Emanuel syndrome: theoretical frequency and surveillance result. ( 24980921 )
2014
10
Lipodermoid in a patient with Emanuel syndrome. ( 23528375 )
2013
11
Derivative 11;22 (emanuel) syndrome: a case report and a review. ( 23691404 )
2013
12
Prenatal screening characteristics in Emanuel syndrome: a case series and review of the literature. ( 22434056 )
2012
13
Emanuel syndrome due to unusual segregation of paternal origin. ( 22876593 )
2012
14
Emanuel syndrome (supernumerary derivative 22), the result of a maternal translocation. A case report. ( 21149990 )
2010
15
Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome. ( 19434659 )
2009
16
Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. ( 19606488 )
2009
17
Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome. ( 19353589 )
2009
18
Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel features. ( 18286821 )
2007
19
Prenatal diagnosis of the supernumerary der(22)t(11;22) syndrome associated with abnormal sonographic findings. ( 17375536 )
2006
20
Cerebral defects confirm midline developmental field disturbances in supernumerary der(22), t(11;22) syndrome. ( 9007334 )
1996
21
Congenital heart disease in supernumerary der(22),t(11;22) syndrome. ( 3720005 )
1986

Variations for Emanuel Syndrome

Copy number variations for Emanuel Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 49675 11 110000000 120700000 Copy number Emanuel syndrome
2 49676 11 110000000 120700000 Deletion Emanuel syndrome
3 160205 22 11800000 24300000 Copy number Emanuel syndrome
4 160220 22 11800000 24300000 Deletion Emanuel syndrome

Expression for Emanuel Syndrome

Search GEO for disease gene expression data for Emanuel Syndrome.

Pathways for Emanuel Syndrome

GO Terms for Emanuel Syndrome

Sources for Emanuel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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