BWCNS
MCID: BWN001
MIFTS: 51

Bowen-Conradi Syndrome (BWCNS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Bowen-Conradi Syndrome

MalaCards integrated aliases for Bowen-Conradi Syndrome:

Name: Bowen-Conradi Syndrome 56 12 74 52 25 58 73 36 29 13 6 43 15 39 71
Bwcns 56 52 25 73
Bowen-Conradi Hutterite Syndrome 52 25
Bowen Syndrome, Hutterite Type 25 58
Fetal Growth Retardation 43 71
Bowen Hutterite Syndrome, Formerly 56
Bowen Syndrome Hutterite Type 73
Bowen Hutterite Syndrome 25
Hutterite Syndrome 25

Characteristics:

Orphanet epidemiological data:

58
bowen-conradi syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
all patients were from hutterite populations in alberta, saskatchewan, manitoba, north and south dakota, and montana
birth prevalence estimated to be 1/355 live births
most children die within the first 2 years of life (range 1 day - 9 years)


HPO:

31
bowen-conradi syndrome:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050684
OMIM 56 211180
KEGG 36 H00616
MESH via Orphanet 44 C537081
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1859405
Orphanet 58 ORPHA1270
MedGen 41 C1859405
UMLS 71 C0015934 C1859405

Summaries for Bowen-Conradi Syndrome

Genetics Home Reference : 25 Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly. Their head is unusually small overall (microcephaly), but is longer than expected compared with its width (dolichocephaly). Characteristic facial features include a prominent, high-bridged nose and an unusually small jaw (micrognathia) and chin. Affected individuals typically have pinky fingers that are curved toward or away from the ring finger (fifth finger clinodactyly) or permanently flexed (camptodactyly), feet with soles that are rounded outward (rocker-bottom feet), and restricted joint movement. Other features that occur in some affected individuals include seizures; structural abnormalities of the kidneys, heart, brain, or other organs; and an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Affected males may have the opening of the urethra on the underside of the penis (hypospadias) or undescended testes (cryptorchidism). Babies with Bowen-Conradi syndrome do not achieve developmental milestones such as smiling or sitting, and they usually do not survive more than 6 months.

MalaCards based summary : Bowen-Conradi Syndrome, also known as bwcns, is related to gracile syndrome and intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. An important gene associated with Bowen-Conradi Syndrome is EMG1 (EMG1 N1-Specific Pseudouridine Methyltransferase), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and Gene Expression. The drugs Tinzaparin and Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and kidney, and related phenotypes are joint stiffness and short stature

Disease Ontology : 12 An autosomal recessive disease that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has material basis in homozygous mutation in the EMG1 gene on chromosome 12p13.

NIH Rare Diseases : 52 Bowen-Conradi syndrome is a very rare genetic disorder characterized by growth delays before birth, failure to thrive during infancy, and malformations of the head and facial area. Other physical abnormalities include small head , prominent nose, small chin , mild joint restriction, clinodactyly , camptodactyly , foot deformities, and/or undescended testes (cryptorchidism ) in affected males. Some affected infants may also have kidney, brain, and/or other abnormalities. Many infants die within the first few months of life. This condition is inherited in an autosomal recessive fashion.

KEGG : 36 Bowen-Conradi syndrome (BCS) is an autosomal-recessive disorder characterized by severely impaired prenatal and postnatal growth, profound psychomotor retardation. Most patients do not survive beyond the first year of life, as a result of complications associated with reduced mobility and failure to thrive. Recently, a missense mutation in EMG1 was reported to be the cause of BCS. EMG1 is a putative methyltransferase that is required for biogenesis of the 40S subunit of the ribosome.

UniProtKB/Swiss-Prot : 73 Bowen-Conradi syndrome: A combination of malformations characterized in newborns by low birth weight, microcephaly, mild joint restriction, a prominent nose, micrognathia, fifth finger clinodactyly, and 'rocker-bottom' feet. The syndrome is transmitted as an autosomal recessive trait. The prognosis is poor, with all infants dying within the first few months of life.

Wikipedia : 74 Bowen-Conradi syndrome is a disease in humans that can affect children. The disease is due to an... more...

More information from OMIM: 211180

Related Diseases for Bowen-Conradi Syndrome

Diseases related to Bowen-Conradi Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 gracile syndrome 11.6
2 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 11.4
3 autosomal recessive disease 10.6
4 pre-eclampsia 10.6
5 eclampsia 10.4
6 placental insufficiency 10.4
7 neural tube defects 10.3
8 charge syndrome 10.3
9 hypospadias 10.3
10 microcephaly 10.3
11 chromosomal triplication 10.3
12 hypoglycemia 10.2
13 autosomal dominant non-syndromic intellectual disability 1 10.1 UTP4 UTP14A
14 dubowitz syndrome 10.1 RNMT BUD23
15 insulin-like growth factor i 10.1
16 oligohydramnios 10.1
17 placenta disease 10.1
18 hemosiderosis 10.0
19 severe pre-eclampsia 10.0
20 lactic acidosis 10.0
21 aminoaciduria 10.0
22 rare hereditary hemochromatosis 10.0
23 hypertension, essential 9.9
24 down syndrome 9.9
25 diabetes mellitus, insulin-dependent 9.9
26 asphyxia neonatorum 9.9
27 disseminated intravascular coagulation 9.9
28 gestational diabetes 9.9
29 cholestasis 9.9
30 antiphospholipid syndrome 9.9
31 placental abruption 9.9
32 triploidy 9.9
33 hypoxia 9.9
34 cataract 9.9
35 autoimmune disease 9.8
36 neurofibromatosis, type iv, of riccardi 9.8
37 osteoporosis 9.8
38 silver-russell syndrome 9.8
39 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8
40 lysinuric protein intolerance 9.8
41 renal tubular dysgenesis 9.8
42 sudden infant death syndrome 9.8
43 androgen insensitivity, partial 9.8
44 carbonic anhydrase va deficiency, hyperammonemia due to 9.8
45 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.8
46 fetal alcohol syndrome 9.8
47 glucose intolerance 9.8
48 hydrocephalus 9.8
49 visual epilepsy 9.8
50 hellp syndrome 9.8

Graphical network of the top 20 diseases related to Bowen-Conradi Syndrome:



Diseases related to Bowen-Conradi Syndrome

Symptoms & Phenotypes for Bowen-Conradi Syndrome

Human phenotypes related to Bowen-Conradi Syndrome:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
6 sloping forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000340
7 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
8 severe postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008850
9 prominent nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000448
10 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
11 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
12 rocker bottom foot 58 31 frequent (33%) Frequent (79-30%) HP:0001838
13 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
14 severe intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008846
15 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
16 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
17 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
18 abnormal lung lobation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002101
19 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
20 malformation of the heart and great vessels 58 Occasional (29-5%)
21 death in infancy 58 Very frequent (99-80%)
22 abnormal joint morphology 31 HP:0001367
23 small for gestational age 31 HP:0001518

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
uncoordinated swallowing

Head And Neck Head:
microcephaly

Head And Neck Nose:
prominent nose

Growth Other:
small for gestational age

Skeletal Feet:
clubfeet
rocker-bottom feet
vertical tali

Head And Neck Mouth:
cleft lip/palate (less common)

Cardiovascular Heart:
congenital heart defect (less common)

Genitourinary Internal Genitalia Male:
undescended testes

Head And Neck Face:
micrognathia

Prenatal Manifestations Delivery:
breech presentation

Skeletal Hands:
camptodactyly
fifth finger clinodactyly

Skeletal Limbs:
knee contractures
hip contractures

Growth Weight:
low birth weight

Skeletal Pelvis:
hip contractures

Abdomen Gastrointestinal:
uncoordinated swallowing

Clinical features from OMIM:

211180

GenomeRNAi Phenotypes related to Bowen-Conradi Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Nuclear 40S maturation defects GR00209-A-2 9.55 EMG1 NOC4L NOP14 RPL11 UTP4
2 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.43 BUD23 NOC4L NOP14 RPL11 UTP14A UTP4
3 Synthetic lethal with Ras GR00018-A-0 9.1 EMG1 NOP14 RPS19 TCHHL1 UTP14A UTP4

Drugs & Therapeutics for Bowen-Conradi Syndrome

Drugs for Bowen-Conradi Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 181)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tinzaparin Approved Phase 4 9041-08-1, 9005-49-6 25244225
2
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
3
Zinc Approved, Investigational Phase 4 7440-66-6 32051
4
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
5
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
6
Iodine Approved, Investigational Phase 4 7553-56-2 807
7
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
8
leucovorin Approved Phase 4 58-05-9 6006 143
9
Copper Approved, Investigational Phase 4 7440-50-8 27099
10
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
11
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
12
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
13
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
14
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
15
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
16
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
17
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
18
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
19
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
20
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
21
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
22
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
23
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
24
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
25
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
26
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
27
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
28
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
29 Tocotrienol Investigational Phase 4 6829-55-6
30
Cobalamin Experimental Phase 4 13408-78-1 6857388
31 Vasodilator Agents Phase 4
32 Hormones Phase 4
33 Antioxidants Phase 4
34 Protective Agents Phase 4
35 Antimetabolites Phase 4
36 Fibrinolytic Agents Phase 4
37 Calcium, Dietary Phase 4
38 Tocopherols Phase 4
39 Tocotrienols Phase 4
40 Vitamins Phase 4
41 Nutrients Phase 4
42 Trace Elements Phase 4
43 Micronutrients Phase 4
44 Vitamin B 12 Phase 4
45 retinol Phase 4
46 Vitamin B3 Phase 4
47 Vitamin B Complex Phase 4
48 Vitamin B9 Phase 4
49 Retinol palmitate Phase 4
50 Folic Acid Antagonists Phase 4

Interventional clinical trials:

(show top 50) (show all 149)
# Name Status NCT ID Phase Drugs
1 Improvement of Utero-Placental Perfusion and Fetal Growth in IUGR and PET by Administration of Sildenafil Citrate in Pregnancy Unknown status NCT00347867 Phase 4 Viagra administration in IUGR/PET pregnancies
2 A Pilot Study of Maternally Administered Melatonin to Decrease the Level of Oxidative Stress in Human Pregnancies Affected by Intrauterine Growth Restriction. Completed NCT01695070 Phase 4 Melatonin
3 Growth Hormone Treatment of Children After Intrauterine Growth Retardation Completed NCT01697644 Phase 4 somatropin;somatropin
4 Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers Completed NCT01729468 Phase 4 Aspirin;Placebo
5 Can Treatment With Low Molecular Weight Heparin During Pregnancy With Intrauterine Growth Restriction Increase Birth Weight? Completed NCT01390051 Phase 4 Innohep (Tinzaparin);tinzaparin
6 Discontinued Administration (6 Months a Year) of Growth Hormone to Children With Very Short Stature and Having Suffered From Intrauterine Growth Retardation: Safety and Effect on Growth of Long-term Therapy Completed NCT01734447 Phase 4 somatropin;somatropin;somatropin
7 Evaluation of Dose-response Effect of Acetylsalicylic Acid on Placental Development, Preterm Birth, Fetal Growth and Hypertension in Pregnancy in Women With Previous History of Preeclampsia Completed NCT01352234 Phase 4 Acetylsalicylic Acid 160 mg;Acetylsalicylic Acid 80 mg
8 Prevention of Intrauterine Growth Retardation in Hounde District, Burkina Faso: the Malaria Component Completed NCT00680732 Phase 4 Chloroquine (CQ);Sulphadoxyne-pyrimethamine (SP)
9 An Open-label Randomized-Controlled Trial of Early Screening Test for Pre-eclampsia and Growth Restriction Completed NCT03674606 Phase 4 Low dose aspirin
10 Prevention of Intrauterine Growth Retardation in Hounde District, Burkina Faso Completed NCT00642408 Phase 4
11 Effect of Prenatal Nutritional Supplementation on Birth Outcome in Hounde District, Burkina Faso Completed NCT00909974 Phase 4
12 Phase IV Study of Oral Administration of Bovine Lactoferrin (bLf) to Prevent and Cure Iron Deficiency (ID) and Iron Deficiency Anemia (IDA) Until Delivery in Hereditary Thrombophilia (HT) Affected Pregnant Women Completed NCT01221844 Phase 4 FerroGrad by Abbott
13 Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies--A Multicenter, Prospective, Open, Randomized, Controlled Clinical Trial Recruiting NCT04051567 Phase 4 Aspirin 100mg
14 Phase 2 Study of Fetal Growth Retardation Treatment by Sildenafil Unknown status NCT01107782 Phase 2, Phase 3 sildenafil;placebo
15 Treatment of Intrauterine Growth Restriction With Low Molecular Heparin: Randomized Clinical Trial. Tratamiento Del Crecimiento Intrauterino Restringido Precoz Con Heparina de Bajo Peso Molecular: Ensayo clínico Aleatorizado. Unknown status NCT03324139 Phase 3 Low molecular weight heparin;Placebos
16 Sildenafil Citrate for Treatment of Growth-restricted Fetuses Unknown status NCT03177824 Phase 3 Sildenafil Citrate 25Mg Tab;Placebo Oral Tablet
17 Sildenafil Versus Low Molecular Weight Heparin in Fetal Growth Restriction Treatment Unknown status NCT03230162 Phase 3 Sildenafil;low molecular weight heparin
18 Docosahexaenoic Acid (DHA) Supplementation During Pregnancy to Prevent Deep Placentation Disorders: A Randomized Clinical Trial and a Study of the Molecular Pathways of Abnormal Placentation Prevention Unknown status NCT02336243 Phase 3
19 Evolution of IGF-1 in Children Born Small for Gestational Age and With Growth Retardation, Treated by Genotonorm Especially Evolution After Dose Adaptation. Completed NCT00174252 Phase 3 Genotonorm (Somatropin)
20 A Cohort of Pre-pubertal Children for the Study of Optimization of Methods of Administration of the Biosynthetic Growth Hormone MAXOMAT ® in the Treatment of Severe Early Onset Intrauterine Growth Retardation Completed NCT00452491 Phase 3 somatropin;somatropin
21 A Two Years Multicentre Study of Genotropin Treatment of Short Prepubertal Children With Intra-Uterine Growth Retardation Completed NCT01073605 Phase 3 Genotonorm;Genotonorm;Genotonorm
22 A Randomized Controlled Trial Evaluating the Role of Sildenafil in the Treatment of Fetal Growth Restriction Completed NCT02590536 Phase 3 Sildenafil citrate;placebo
23 Antepartum Chronic Epidural Therapy (ACET) Using Ropivacaine to Improve Uteroplacental Blood Flow in Pre-Eclampsia and Intrauterine Growth Restriction Completed NCT00197340 Phase 3 Epidural ropivacaine
24 An Open Study of the Safety and Efficacy of Saizen®, (Recombinant Human Growth Hormone, r-hGH), in Children Born With Serious Intra-uterine Growth Retardation (IUGR) Treated to Final Height Completed NCT01400698 Phase 3 Saizen® A;Saizen® B
25 Low Molecular Weight Heparin, Enoxaparin, to Prevent Adverse Maternal and Perinatal Outcomes in Women With Previous Severe Preeclampsia at Less Than 34 Weeks' Gestation. A Prospective Randomized Trial Completed NCT00986765 Phase 3 Lovenox® (enoxaparin);Aspegic ® (Aspirin)
26 Low-molecular-weight Heparin in Constituted Vascular Intrauterine Growth Restriction. Randomized Multicenter Trial Recruiting NCT02672566 Phase 3 Enoxaparin
27 Pentaerithrityltetranitrat (PETN) Zur Sekundärprophylaxe Der Intrauterinen Wachstumsretardierung Recruiting NCT03669185 Phase 3 Pentalong;Placebos
28 Sleep Apnea and Fetal Growth Restriction Recruiting NCT04084990 Phase 3
29 Impact of Pre-Pregnancy Micronutrient Supplementation on Maternal and Child Outcomes Active, not recruiting NCT01665378 Phase 3
30 The Dutch STRIDER (Sildenafil TheRapy In Dismal Prognosis Early-onset Fetal Growth Restriction) Terminated NCT02277132 Phase 2, Phase 3 Sildenafil;Placebo
31 L-Arginine Treatment for Severe Vascular Fetal Intrauterine Growth Restriction: a Randomized Double Bind Controlled Trial Terminated NCT00549575 Phase 3 L ARG;Placebo
32 STRIDER Canada: A Randomized Controlled Trial of Sildenafil Therapy In Dismal Prognosis Early-Onset Intrauterine Growth Restriction (Canada) Terminated NCT02442492 Phase 2, Phase 3 Sildenafil;Placebo
33 Sildenafil Citrate for the Management of Asymmetrical Intrauterine Growth Restriction Unknown status NCT02678221 Phase 2 Sildenafil citrate;Aspirin
34 Preterm Fetal Growth Restriction and Developmental Care Unknown status NCT00166660 Phase 2
35 Effect of Low-dose Aspirin on Fetal Weight of Idiopathic Asymmetrically Intrauterine Growth Restricted Fetuses With Abnormal Umbilical Doppler Indices Completed NCT03038607 Phase 2 Aspirin
36 Effect of Low Dose Aspirin on Birthweight in Twins: The GAP Trial Completed NCT02280031 Phase 2 Acetylsalicylic Acid;Placebo
37 The Effect of Omega 3 on Pregnancy Complicated by Asymmetrical Intrauterine Growth Restriction Completed NCT02696577 Phase 2 Low dose aspirin;Omega 3
38 Effects of Oral Ginkgo Biloba Extract on Pregnancy Complicated by Asymmetrically Intrauterine Growth Restriction: a Double-blinded Randomized Placebo-controlled Trial Completed NCT02425436 Phase 2 Ginkgo Biloba Extract
39 Controlled-Release Misoprostol Vaginal Insert in Parous Women for Labor Induction: Randomized Trial Completed NCT00346840 Phase 2 Misoprostol vaginal insert 25 mcg;Misoprostol vaginal insert 50 mcg;Misoprostol vaginal insert 100 mcg;Misoprostol vaginal insert 200 mcg
40 Randomized Controlled Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells for Facial Soft Tissue Augmentation in Patients With Craniofacial Microsomia. Completed NCT01674439 Phase 2
41 Nicotine Replacement Therapy Methods for Pregnant Women Completed NCT00341432 Phase 2
42 The Role of Pro-angiogenic Immune Cells in Human Pregnancies Unknown status NCT01177020
43 Prediction of Low Birth Weight Infants Using Ultrasound Measurement of Placental Diameter and Thickness Unknown status NCT01501851
44 Does Antenatal Allopurinol Administration Improve Maternal and Neonatal Outcome in Intrauterine Growth Restriction? Unknown status NCT00346463 Allopurinol
45 Antiphospholipid Antibodies and Early Fetal Growth Restriction (<34 Weeks of Gestation). A Case Control Study. Unknown status NCT01538134
46 Genetic Study of Insulin-Like Growth Factor-I Receptor Mutations in Patients With Intrauterine Growth Retardation Unknown status NCT00005105
47 Multidimensional Modeling in Evaluation of Infants With Intrauterine Growth Restriction Unknown status NCT02515292
48 First-trimester Study of the Morphometric Characteristics of the Placenta to Assess the Risk of Preeclampsia and Intrauterine Growth Restriction in Singleton Pregnancies Unknown status NCT02879942
49 Social Deprivation and Pregnancy Unknown status NCT03121196
50 Intrauterine Growth Restriction Has an Impact on Amplitude-integrated EEG in Preterm Infants Unknown status NCT01942525

Search NIH Clinical Center for Bowen-Conradi Syndrome

Cochrane evidence based reviews: fetal growth retardation

Genetic Tests for Bowen-Conradi Syndrome

Genetic tests related to Bowen-Conradi Syndrome:

# Genetic test Affiliating Genes
1 Bowen-Conradi Syndrome 29 EMG1

Anatomical Context for Bowen-Conradi Syndrome

MalaCards organs/tissues related to Bowen-Conradi Syndrome:

40
Brain, Testes, Kidney, Heart, Placenta, Bone, Endothelial

Publications for Bowen-Conradi Syndrome

Articles related to Bowen-Conradi Syndrome:

(show all 29)
# Title Authors PMID Year
1
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. 61 56 6
19463982 2009
2
A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3. 61 56
15578624 2005
3
Bowen-Conradi syndrome: a clinical and genetic study. 61 56
12838567 2003
4
Bowen-Conradi syndrome in non Hutterite infant. 61 56
12002150 2002
5
Bowen-Conradi syndrome. 61 56
12002151 2002
6
Bowen-Conradi syndrome in an Indian infant: first non Hutterite case. 61 56
11310999 2001
7
The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities. 61 56
484596 1979
8
[Phenocopy of trisomy 18: an autosomal recessive disease? (author's transl)]. 56
7294952 1981
9
Quantum Language of MicroRNA: Application for New Cancer Therapeutic Targets. 61
29435930 2018
10
Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment. 61
27798105 2016
11
Nucleolar Enrichment of Brain Proteins with Critical Roles in Human Neurodevelopment. 61
27053602 2016
12
Growth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression. 61
25708872 2015
13
A Hutterite condition that mimics Bowen-Conradi syndrome. 61
25906497 2015
14
Bowen-Conradi Syndrome: a trisomy 18-like autosomal recessive disorder common in Hutterites. 61
25799636 2015
15
Mutation of EMG1 causing Bowen-Conradi syndrome results in reduced cell proliferation rates concomitant with G2/M arrest and 18S rRNA processing delay. 61
26676230 2014
16
Human diseases of the SSU processome. 61
24240090 2014
17
Bowen-Conradi: a common Hutterite condition that mimics trisomy 18. 61
22856010 2012
18
Genetic interactions of yeast NEP1 (EMG1), encoding an essential factor in ribosome biogenesis. 61
22588997 2012
19
Structural insight into the functional mechanism of Nep1/Emg1 N1-specific pseudouridine methyltransferase in ribosome biogenesis. 61
21087996 2011
20
The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly factor and in the methylation of Ψ1191 in yeast 18S rRNA. 61
20972225 2011
21
EMG1 is essential for mouse pre-implantation embryo development. 61
20858271 2010
22
The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase. 61
20047967 2010
23
Mystery behind Bowen-Conradi syndrome solved: a novel ribosome biogenesis defect. 61
20096068 2010
24
Backbone resonance assignments of the 48 kDa dimeric putative 18S rRNA-methyltransferase Nep1 from Methanocaldococcus jannaschii. 61
19779849 2009
25
A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. 61
17975804 2007
26
Hypospadias as a new congenital anomaly in Bowen-Conradi syndrome. 61
7888139 1994
27
[Genetic-morphologic fatal syndromes. Bowen-Conradi syndrome]. 61
8367389 1993
28
[A newborn infant with the Bowen-Conradi syndrome; a fatal hereditary disorder]. 61
7123536 1982
29
[Bowen-Conrad syndrome]. 61
7447745 1980

Variations for Bowen-Conradi Syndrome

ClinVar genetic disease variations for Bowen-Conradi Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EMG1 NM_006331.8(EMG1):c.257A>G (p.Asp86Gly)SNV Pathogenic 890 rs74435397 12:7083589-7083589 12:6974427-6974427

UniProtKB/Swiss-Prot genetic disease variations for Bowen-Conradi Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 EMG1 p.Asp86Gly VAR_062480 rs74435397

Expression for Bowen-Conradi Syndrome

Search GEO for disease gene expression data for Bowen-Conradi Syndrome.

Pathways for Bowen-Conradi Syndrome

Pathways related to Bowen-Conradi Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Ribosome biogenesis in eukaryotes hsa03008

Pathways related to Bowen-Conradi Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 UTP4 UTP14A TSR3 RPS19 RPL11 RNMT
2
Show member pathways
12.13 UTP4 UTP14A TSR3 RPS19 RPL11 NOP14
3 11.35 UTP4 UTP14A EMG1

GO Terms for Bowen-Conradi Syndrome

Cellular components related to Bowen-Conradi Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.18 UTP4 UTP14A RSL1D1 RPS19 RPL11 RNMT
2 nucleoplasm GO:0005654 10 UTP4 UTP14A RPS19 RPL11 RNMT NSUN5
3 t-UTP complex GO:0034455 9.37 UTP4 NOL11
4 nucleolus GO:0005730 9.36 UTP4 UTP14A RSL1D1 RPS19 RPL11 NSUN5
5 small-subunit processome GO:0032040 9.35 UTP4 UTP14A NOP14 NOC4L EMG1
6 90S preribosome GO:0030686 9.33 UTP4 RSL1D1 NOP14
7 Noc4p-Nop14p complex GO:0030692 9.32 NOP14 NOC4L

Biological processes related to Bowen-Conradi Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.67 RNMT NSUN5 EMG1 BUD23
2 ribosome biogenesis GO:0042254 9.56 UTP4 UTP14A TSR3 NOP14 NOL11 NOC4L
3 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.5 UTP4 RPS19 NOP14
4 maturation of SSU-rRNA GO:0030490 9.46 UTP4 TSR3 RPS19 NOL11
5 ribosomal small subunit biogenesis GO:0042274 9.43 RPS19 NOP14 EMG1
6 rRNA base methylation GO:0070475 9.4 NSUN5 EMG1
7 rRNA processing GO:0006364 9.36 UTP4 UTP14A TSR3 RPS19 RPL11 NSUN5

Molecular functions related to Bowen-Conradi Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.4 UTP4 UTP14A RSL1D1 RPS19 RPL11 RNMT
2 methyltransferase activity GO:0008168 9.26 RNMT NSUN5 EMG1 BUD23
3 rRNA binding GO:0019843 9.16 RPL11 EMG1

Sources for Bowen-Conradi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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