MCID: EMN001
MIFTS: 41

Emanuel Syndrome

Categories: Rare diseases, Genetic diseases, Fetal diseases

Aliases & Classifications for Emanuel Syndrome

MalaCards integrated aliases for Emanuel Syndrome:

Name: Emanuel Syndrome 54 23 50 24 25 56 69
Supernumerary Der(22) Syndrome 50 25 56
Der(22) Syndrome Due to 3:1 Meiotic Disjunction Events 25
Supernumerary Derivative 22 Chromosome Syndrome 25
Supernumerary Der(22),t(11;22) Syndrome 50
Supernumerary Der(22)t(11;22) Syndrome 25
Supernumerary Der(22)t(11 24
Der(22)t(11;22) Syndrome 56

Characteristics:

OMIM:

54
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:

23
Penetrance Penetrance is complete in individuals with the supernumerary der(22)...

Classifications:



Summaries for Emanuel Syndrome

NIH Rare Diseases : 50 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. last updated: 6/28/2016

MalaCards based summary : Emanuel Syndrome, also known as supernumerary der(22) syndrome, is related to congenital diaphragmatic hernia and acute myeloblastic leukemia without maturation, and has symptoms including failure to thrive, scoliosis and dysphagia. An important gene associated with Emanuel Syndrome is DER22T11-22 (Emanuel Syndrome). The drugs Asparaginase and Cytarabine have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and skin.

Genetics Home Reference : 25 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 : 54
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 : 72 Derivative 22 syndrome, or der(22), is a rare disorder associated with multiple congenital anomalies,... more...

GeneReviews: NBK1263

Related Diseases for Emanuel Syndrome

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

id Related Disease Score Top Affiliating Genes
1 congenital diaphragmatic hernia 9.8
2 acute myeloblastic leukemia without maturation 9.4 LOC108449888 LOC108449897
3 polyarteritis nodosa, childhood-onset 8.6 DER22T11-22 LOC108449888 LOC108449897

Symptoms & Phenotypes for Emanuel Syndrome

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
high-arched palate
cleft palate

Neurologic- Central Nervous System:
hypotonia
mental retardation
white matter abnormalities
cerebral atrophy
seizures
more
Head And Neck- Eyes:
strabismus
myopia
deep-set eyes
upslanting palpebral fissures
hooded eyelids

Head And Neck- Ears:
low-set ears
large ears
hearing loss
preauricular tag
recurrent otitis media
more
Genitourinary- External Genitalia Male:
micropenis
inguinal hernia

Cardiovascular- Vascular:
patent ductus arteriosus
truncus arteriosus

Prenatal Manifestations- Placenta And Umbilical Cord:
single umbilical artery

Skeletal- Pelvis:
congenital hip dislocation

Genitourinary- Kidneys:
absent kidney
hypoplastic kidney

Genitourinary- Internal Genitalia Male:
undescended testis

Chest- Ribs Sternum Clavicles And Scapulae:
13 pairs of ribs

Chest- Breasts:
low-set nipples

Skeletal- Spine:
scoliosis
kyphosis

Respiratory:
recurrent respiratory infections

Head And Neck- Head:
microcephaly

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

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

Abdomen- Gastroin testinal:
gastroesophageal reflux
constipation
feeding difficulties
imperforate anus
tight anal sphincter
more
Head And Neck- Teeth:
crowded teeth
delayed eruption of primary teeth
misaligned teeth

Chest- Diaphragm:
diaphragmatic hernia

Growth- Other:
prenatal growth retardation

Head And Neck- Neck:
excess nuchal skin

Head And Neck- Nose:
low hanging columella

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

Human phenotypes related to Emanuel Syndrome:

56 32 (show top 50) (show all 89)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 frequent (33%) Frequent (79-30%) HP:0001508
2 scoliosis 56 32 Frequent (79-30%) HP:0002650
3 dysphagia 56 32 frequent (33%) Frequent (79-30%) HP:0002015
4 recurrent respiratory infections 56 32 frequent (33%) Frequent (79-30%) HP:0002205
5 broad jaw 56 32 frequent (33%) Frequent (79-30%) HP:0012802
6 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
7 myopia 56 32 frequent (33%) Frequent (79-30%) HP:0000545
8 cerebral atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0002059
9 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
10 ptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000508
11 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
12 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
13 low-set ears 56 32 frequent (33%) Frequent (79-30%) HP:0000369
14 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
15 micropenis 56 32 frequent (33%) Frequent (79-30%) HP:0000054
16 intrauterine growth retardation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001511
17 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
18 patent ductus arteriosus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001643
19 kyphoscoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002751
20 premature birth 56 32 occasional (7.5%) Occasional (29-5%) HP:0001622
21 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
22 gastroesophageal reflux 56 32 frequent (33%) Frequent (79-30%) HP:0002020
23 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
24 breech presentation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001623
25 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
26 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
27 bifid uvula 56 32 occasional (7.5%) Occasional (29-5%) HP:0000193
28 infertility 56 32 frequent (33%) Frequent (79-30%) HP:0000789
29 ventricular septal defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001629
30 long philtrum 56 32 frequent (33%) Frequent (79-30%) HP:0000343
31 agenesis of corpus callosum 56 32 occasional (7.5%) Occasional (29-5%) HP:0001274
32 pulmonic stenosis 56 32 frequent (33%) Frequent (79-30%) HP:0001642
33 single umbilical artery 56 32 frequent (33%) Frequent (79-30%) HP:0001195
34 constipation 56 32 frequent (33%) Frequent (79-30%) HP:0002019
35 dandy-walker malformation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001305
36 hypogonadism 56 32 frequent (33%) Frequent (79-30%) HP:0000135
37 astigmatism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000483
38 unilateral renal agenesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000122
39 feeding difficulties 56 32 frequent (33%) Frequent (79-30%) HP:0011968
40 renal hypoplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000089
41 oligohydramnios 56 32 occasional (7.5%) Occasional (29-5%) HP:0001562
42 cough 56 32 occasional (7.5%) Occasional (29-5%) HP:0012735
43 hypermetropia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000540
44 congenital hip dislocation 56 32 frequent (33%) Frequent (79-30%) HP:0001374
45 high palate 56 32 frequent (33%) Frequent (79-30%) HP:0000218
46 generalized hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001290
47 decreased fetal movement 56 32 occasional (7.5%) Occasional (29-5%) HP:0001558
48 supernumerary ribs 56 32 frequent (33%) Frequent (79-30%) HP:0005815
49 recurrent otitis media 56 32 frequent (33%) Frequent (79-30%) HP:0000403
50 preauricular skin tag 56 32 frequent (33%) Frequent (79-30%) HP:0000384

UMLS symptoms related to Emanuel Syndrome:


constipation, seizures

Drugs & Therapeutics for Emanuel Syndrome

Drugs for Emanuel Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 150)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Asparaginase Approved Phase 3 9015-68-3
2
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
3
Daunorubicin Approved Phase 3 20830-81-3 30323
4
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754 657311
5
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
6
Thioguanine Approved Phase 3 154-42-7 2723601
7
Etoposide Approved Phase 3 33419-42-0 36462
8
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
9
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
10
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
11
Amitriptyline Approved Phase 3 50-48-6 2160
12
Baclofen Approved Phase 3 1134-47-0 2284
13
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
14
Perphenazine Approved Phase 3 58-39-9 4748
15
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
16
Memantine Approved, Investigational Phase 3 19982-08-2 4054
17
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
18
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
19
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
20
Levoleucovorin Approved Phase 3 68538-85-2
21
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
22
Pegaspargase Approved, Investigational Phase 3 130167-69-0
23
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
24
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
25
Acetylcarnitine Approved, Investigational Phase 3 3040-38-8 1
26
Dactinomycin Approved Phase 3 50-76-0 2019 457193
27
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
28
Clofarabine Approved, Investigational Phase 3 123318-82-1 119182
29
Cortisone acetate Approved Phase 3 1950-04-4, 50-04-4 5745
30
Dasatinib Approved, Investigational Phase 3 302962-49-8 3062316
31
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
32
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
33
Butyric Acid Experimental Phase 3 107-92-6 264
34
Doxil Approved June 1999 Phase 3 31703
35 Anti-Bacterial Agents Phase 3
36 Antibiotics, Antitubercular Phase 3
37 Anti-Infective Agents Phase 3
38 Anti-Inflammatory Agents Phase 3
39 Antimetabolites Phase 3
40 Antimetabolites, Antineoplastic Phase 3
41 Antirheumatic Agents Phase 3
42 Antiviral Agents Phase 3
43 Cortisol succinate Phase 3
44 Dermatologic Agents Phase 3,Phase 2
45 Folic Acid Antagonists Phase 3
46 Hydrocortisone 17-butyrate 21-propionate Phase 3
47 Hydrocortisone acetate Phase 3
48 Hydrocortisone-17-butyrate Phase 3
49 Immunosuppressive Agents Phase 3
50 Nucleic Acid Synthesis Inhibitors Phase 3

Interventional clinical trials:

(show all 25)

id Name Status NCT ID Phase Drugs
1 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;methotrexate;therapeutic hydrocortisone;thioguanine
2 Combination Chemotherapy in Treating Young Patients With Down Syndrome and Acute Myeloid Leukemia or Myelodysplastic Syndromes Completed NCT00369317 Phase 3 asparaginase;daunorubicin hydrochloride;cytarabine;thioguanine;etoposide
3 Cyclophosphamide and Prednisone With or Without Immunoglobulin in Treating Abnormal Muscle Movement in Children With Neuroblastoma Completed NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
4 Combination Chemotherapy With or Without Gemtuzumab in Treating Young Patients With Newly Diagnosed Acute Myeloid Leukemia Completed NCT00372593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;etoposide;gemtuzumab ozogamicin;mitoxantrone hydrochloride
5 Baclofen-Amitriptyline Hydrochloride-Ketamine Gel in Treating Peripheral Neuropathy Caused by Chemotherapy in Patients With Cancer Completed NCT00516503 Phase 3 baclofen/amitriptyline/ketamine gel
6 Memantine in Preventing Side Effects in Patients Undergoing Whole-Brain Radiation Therapy for Brain Metastases From Solid Tumors Completed NCT00566852 Phase 3 Memantine
7 Study to Evaluate the Efficacy and Safety of OraVescent Fentanyl Citrate Treatment for the Management of Breakthrough Pain in Opioid-Tolerant Patients With Noncancer-Related Chronic Pain Completed NCT00343733 Phase 3 OraVescent Fentanyl
8 Dexamethasone Compared With Prednisone During Induction Therapy and MTX With or Without Leucovorin During Maintenance Therapy in Treating Patients With Newly Diagnosed High-Risk Acute Lymphoblastic Leukemia Completed NCT00075725 Phase 3 cyclophosphamide;cytarabine;daunorubicin hydrochloride;dexamethasone;doxorubicin hydrochloride;leucovorin calcium;mercaptopurine;methotrexate;pegaspargase;prednisone;thioguanine;vincristine sulfate
9 S0715: Acetyl-L-Carnitine in Preventing Neuropathy in Women With Stage I, II, or IIIA Breast Cancer Undergoing Chemo Completed NCT00775645 Phase 3
10 Combination Chemotherapy With or Without Radiation Therapy in Treating Young Patients With Newly Diagnosed Stage III or Stage IV Wilms' Tumor Completed NCT00379340 Phase 3 doxorubicin hydrochloride;liposomal vincristine sulfate;cyclophosphamide;etoposide
11 Vincristine, Dactinomycin, and Doxorubicin With or Without Radiation Therapy or Observation Only in Treating Younger Patients Who Are Undergoing Surgery for Newly Diagnosed Stage I, Stage II, or Stage III Wilms' Tumor Completed NCT00352534 Phase 3 vincristine sulfate;doxorubicin hydrochloride
12 Risk-Adapted Chemotherapy in Treating Younger Patients With Newly Diagnosed Standard-Risk Acute Lymphoblastic Leukemia or Localized B-Lineage Lymphoblastic Lymphoma Recruiting NCT01190930 Phase 3 Cyclophosphamide;Cytarabine;Dexamethasone;Doxorubicin Hydrochloride;Leucovorin Calcium;Mercaptopurine;Methotrexate;Pegaspargase;Thioguanine;Vincristine Sulfate
13 Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate;Carboplatin;Cyclophosphamide;Etoposide Phosphate
14 Combination Chemotherapy in Treating Young Patients With Newly Diagnosed Acute Lymphoblastic Leukemia Active, not recruiting NCT00103285 Phase 3 doxorubicin hydrochloride;cytarabine;dexamethasone;pegaspargase;methotrexate;leucovorin calcium;mercaptopurine;cyclophosphamide;thioguanine;vincristine sulfate
15 Combination Chemotherapy in Treating Young Patients With Newly Diagnosed High-Risk B Acute Lymphoblastic Leukemia and Ph-Like TKI Sensitive Mutations Suspended NCT02883049 Phase 3 Clofarabine;Cyclophosphamide;Cytarabine;Dasatinib;Dexamethasone;Doxorubicin Hydrochloride;Etoposide;Hydrocortisone Sodium Succinate;Leucovorin Calcium;Mercaptopurine;Methotrexate;Pegaspargase;Prednisone;Thioguanine;Vincristine Sulfate
16 Cyproheptadine and Megestrol in Preventing Weight Loss in Children With Cachexia Caused By Cancer or Cancer Treatment Completed NCT00066248 Phase 2 cyproheptadine hydrochloride;megestrol acetate
17 Extension of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase (IT)in Conjunction With Elaprase in Pediatric Patients With Hunter Syndrome and Cognitive Impairment Active, not recruiting NCT01506141 Phase 1, Phase 2 Idursulfase-IT
18 Observational Study of Sepsis and Pneumonia to Develop Diagnostic Tests Unknown status NCT00258869
19 S9910, Collecting and Storing Blood and Bone Marrow Samples From Patients With Hematologic Cancer Completed NCT00919425
20 Brain Function in Young Patients Receiving Methotrexate for Acute Lymphoblastic Leukemia Completed NCT00437060
21 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
22 Neuropsychological and Behavioral Testing in Younger Patients With Cancer Recruiting NCT00772200
23 Study of Kidney Tumors in Younger Patients Recruiting NCT00898365
24 Study of Blood Samples From Newborns With Down Syndrome Active, not recruiting NCT00959283
25 Multi-marker INDex for the Risk Assessment of Sepsis in the Emergency departmenT (MINDSET) Withdrawn NCT00472628

Search NIH Clinical Center for Emanuel Syndrome

Genetic Tests for Emanuel Syndrome

Genetic tests related to Emanuel Syndrome:

id Genetic test Affiliating Genes
1 Emanuel Syndrome 24

Anatomical Context for Emanuel Syndrome

MalaCards organs/tissues related to Emanuel Syndrome:

39
Heart, Kidney, Skin, Brain, Testes, Bone, Eye

Publications for Emanuel Syndrome

Articles related to Emanuel Syndrome:

(show all 16)
id Title Authors Year
1
A clinical and molecular analysis of a patient with Emanuel syndrome. ( 28075445 )
2017
2
Anesthetic Management of a Patient With Emanuel Syndrome. ( 27973931 )
2016
3
Anesthetic management of pediatric patients with Emanuel syndrome. ( 25603733 )
2015
4
Emanuel Syndrome (ES): new case-report and review of the literature. ( 26076791 )
2015
5
A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother. ( 27785401 )
2015
6
Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome. ( 26167235 )
2015
7
Prevalence of Emanuel syndrome: theoretical frequency and surveillance result. ( 24980921 )
2014
8
Derivative 11;22 (emanuel) syndrome: a case report and a review. ( 23691404 )
2013
9
Lipodermoid in a patient with Emanuel syndrome. ( 23528375 )
2013
10
Prenatal screening characteristics in Emanuel syndrome: a case series and review of the literature. ( 22434056 )
2012
11
Emanuel syndrome due to unusual segregation of paternal origin. ( 22876593 )
2012
12
Emanuel syndrome (supernumerary derivative 22), the result of a maternal translocation. A case report. ( 21149990 )
2010
13
Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome. ( 19434659 )
2009
14
Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. ( 19606488 )
2009
15
Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel features. ( 18286821 )
2007
16
Emanuel Syndrome ( 20301440 )
1993

Variations for Emanuel Syndrome

Copy number variations for Emanuel Syndrome from CNVD:

7
id 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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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