BWCNS
MCID: BWN001
MIFTS: 44

Bowen-Conradi Syndrome (BWCNS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Bowen-Conradi Syndrome

Aliases & Descriptions for Bowen-Conradi Syndrome:

Name: Bowen-Conradi Syndrome 54 12 50 25 56 66 29 13 14 69
Bwcns 50 25 66
Bowen-Conradi Hutterite Syndrome 50 25
Bowen Syndrome, Hutterite Type 25 56
Fetal Growth Retardation 42 69
Bowen Syndrome Hutterite Type 66
Bowen Hutterite Syndrome 25
Hutterite Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
bowen-conradi syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;

HPO:

32
bowen-conradi syndrome:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 211180
Disease Ontology 12 DOID:0050684
Orphanet 56 ORPHA1270
MESH via Orphanet 43 C537081
UMLS via Orphanet 70 C1859405
ICD10 via Orphanet 34 Q87.8
MedGen 40 C1859405
MeSH 42 D005317

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.

MalaCards based summary : Bowen-Conradi Syndrome, also known as bwcns, is related to image syndrome and gracile syndrome, and has symptoms including seizures, joint stiffness and microcephaly. An important gene associated with Bowen-Conradi Syndrome is EMG1 (EMG1, N1-Specific Pseudouridine Methyltransferase). The drugs Methyldopa and Metformin have been mentioned in the context of this disorder. Affiliated tissues include testes, kidney and brain, and related phenotype is Nuclear 40S maturation defects.

NIH Rare Diseases : 50 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. last updated: 4/22/2011

UniProtKB/Swiss-Prot : 66 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.

Description 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 all 20)
id Related Disease Score Top Affiliating Genes
1 image syndrome 10.9
2 gracile syndrome 10.8
3 hypospadias 10.1
4 microcephaly 10.1
5 placental insufficiency 10.0
6 lactic acidosis 9.9
7 aminoaciduria 9.9
8 insulin-like growth factor i 9.8
9 pre-eclampsia 9.8
10 eclampsia 9.8
11 exencephaly 9.6
12 fetal hydantoin syndrome 9.6
13 neural tube defects 9.6
14 febrile seizures 9.6
15 hypoxia 9.6
16 lysinuric protein intolerance 9.6
17 endotheliitis 9.6
18 hellp syndrome 9.6
19 cholestasis 9.6
20 episodic ataxia/myokymia syndrome 9.2 CUL4B EIF4A3 EMG1 LARP7 RRP8

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



Diseases related to Bowen-Conradi Syndrome

Symptoms & Phenotypes for Bowen-Conradi Syndrome

Symptoms by clinical synopsis from OMIM:

211180

Clinical features from OMIM:

211180

Human phenotypes related to Bowen-Conradi Syndrome:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 joint stiffness 56 32 Very frequent (99-80%) HP:0001387
3 microcephaly 56 32 Very frequent (99-80%) HP:0000252
4 short stature 56 32 Very frequent (99-80%) HP:0004322
5 feeding difficulties in infancy 56 32 Very frequent (99-80%) HP:0008872
6 micrognathia 56 32 Very frequent (99-80%) HP:0000347
7 severe global developmental delay 56 32 Very frequent (99-80%) HP:0011344
8 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
9 ventriculomegaly 56 32 Occasional (29-5%) HP:0002119
10 clinodactyly of the 5th finger 56 32 Frequent (79-30%) HP:0004209
11 camptodactyly of finger 56 32 Frequent (79-30%) HP:0100490
12 oral cleft 56 32 Occasional (29-5%) HP:0000202
13 sloping forehead 56 32 Very frequent (99-80%) HP:0000340
14 severe postnatal growth retardation 56 32 Very frequent (99-80%) HP:0008850
15 abnormal lung lobation 56 32 Occasional (29-5%) HP:0002101
16 prominent nose 56 32 Very frequent (99-80%) HP:0000448
17 rocker bottom foot 56 32 Frequent (79-30%) HP:0001838
18 severe intrauterine growth retardation 56 32 Frequent (79-30%) HP:0008846
19 malformation of the heart and great vessels 56 Occasional (29-5%)
20 death in infancy 56 Very frequent (99-80%)
21 abnormality of cardiovascular system morphology 32 HP:0030680
22 small for gestational age 32 HP:0001518
23 abnormal joint morphology 32 HP:0001367

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Nuclear 40S maturation defects GR00209-A-2 8.62 EIF4A3 EMG1

Drugs & Therapeutics for Bowen-Conradi Syndrome

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

(show top 50) (show all 248)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyldopa Approved Phase 4 555-30-6 38853
2
Metformin Approved Phase 4 657-24-9 14219 4091
3
Dalteparin Approved Phase 4,Phase 3,Phase 2 9041-08-1
4
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2 9005-49-6 772 46507594
5
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-78-2 2244
6
Tinzaparin Approved Phase 4 9005-49-6, 9041-08-1 25244225
7
Copper Approved Phase 4,Phase 3 15158-11-9, 7440-50-8 27099
8
Hydroxocobalamin Approved Phase 4,Phase 3 13422-51-0 11953898 5460373 44475014
9
Iron Approved Phase 4,Phase 3 7439-89-6 23925
10
Selenium Approved, Vet_approved Phase 4,Phase 3 7782-49-2
11
Zinc Approved Phase 4,Phase 3 7440-66-6 32051 23994
12
chloroquine Approved, Vet_approved Phase 4,Phase 3 54-05-7 2719
13
Pyrimethamine Approved, Vet_approved Phase 4,Phase 3 58-14-0 4993
14
Sulfadoxine Approved Phase 4,Phase 3 2447-57-6 17134
15
Dinoprostone Approved Phase 4 363-24-6 5280360
16
Warfarin Approved Phase 4 81-81-2 6691 54678486
17
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-30-3 6037
18
leucovorin Approved, Nutraceutical Phase 4,Phase 3 58-05-9 54575, 6560146 143
19
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
20
Cyanocobalamin Approved, Nutraceutical Phase 4,Phase 3 68-19-9 44176380
21
Niacin Approved, Investigational, Nutraceutical Phase 4,Phase 3 59-67-6 938
22
Nicotinamide Approved, Nutraceutical Phase 4,Phase 3 98-92-0 936
23
Pyridoxal Approved, Nutraceutical Phase 4,Phase 3 66-72-8 1050
24
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 65-23-6 1054
25
Riboflavin Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 83-88-5 493570
26
Thiamine Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-43-8 1130
27
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Early Phase 1 11103-57-4, 68-26-8 445354
28
Vitamin C Approved, Nutraceutical Phase 4,Phase 3 50-81-7 5785 54670067
29
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-02-9 14985
30
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
31 Hormone Antagonists Phase 4,Phase 2,Phase 3
32 Hormones Phase 4,Phase 2,Phase 3
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3
34 Hypoglycemic Agents Phase 4
35 insulin Phase 4
36 Insulin, Globin Zinc Phase 4
37 Antihypertensive Agents Phase 4
38 Imatinib Mesylate Phase 4 123596
39 Anticoagulants Phase 4,Phase 3,Phase 2
40 calcium heparin Phase 4,Phase 3,Phase 2
41 Fibrinolytic Agents Phase 4,Phase 3,Phase 2
42 Heparin, Low-Molecular-Weight Phase 4,Phase 3,Phase 2
43 Antioxidants Phase 4,Phase 3
44 Protective Agents Phase 4,Phase 3
45 Hematinics Phase 4,Phase 3
46 Micronutrients Phase 4,Phase 3
47 Trace Elements Phase 4,Phase 3
48 Vitamin B Complex Phase 4,Phase 3
49 vitamin d Phase 4,Phase 3
50 Vitamins Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 225)
id Name Status NCT ID Phase
1 Study to Examine Insulin Resistance During Growth Hormone Treatment for Short Stature Due to Low Birthweight Unknown status NCT00120497 Phase 4
2 Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia (Metildopape) Unknown status NCT01361425 Phase 4
3 Effectiveness of Metformin in Recurrent Miscarriage in a Woman With Hyperinsulinaemia Unknown status NCT01718340 Phase 4
4 Assessment Of Gh-Igf-1 Axis In Children With Chronic Myelogenous Leukemia (CML) In Remission Unknown status NCT01901666 Phase 4
5 Can Low Molecular Weight Heparin During Pregnancy With Intrauterine Growth Restriction Increase Birth Weight? Completed NCT01390051 Phase 4
6 Melatonin to Prevent Brain Injury in Unborn Growth Restricted Babies Completed NCT01695070 Phase 4
7 Prevention of Intrauterine Growth Retardation in Hounde District, Burkina Faso Completed NCT00642408 Phase 4
8 Long Term Effect of Somatropin in Subjects With Intrauterine Growth Retardation Completed NCT01734447 Phase 4
9 Growth Hormone Treatment of Children Diagnosed of Intrauterine Growth Retardation Completed NCT01697644 Phase 4
10 Prevention of Intrauterine Growth Retardation in Burkina Faso: the Malaria Component Completed NCT00680732 Phase 4
11 Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia Completed NCT01352234 Phase 4
12 Effect of Prenatal Nutritional Supplementation on Birth Outcome in Hounde District, Burkina Faso Completed NCT00909974 Phase 4
13 Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers Completed NCT01729468 Phase 4
14 The Balloon Project for Birth Induction Completed NCT01255839 Phase 4
15 Low Molecular Weight Heparin in Recurrent Miscarriage With Negative Antiphospholipid Antibodies Completed NCT01608347 Phase 4
16 Timing of Initiation of LMWH Administration in Pregnant Women With APS Completed NCT02326051 Phase 4
17 Use of Warfarin After the First Trimester in Pregnant Women With APS Recruiting NCT02303171 Phase 4
18 LMWH to Prevent Preeclampsia and Fetal Growth Restriction Terminated NCT00260520 Phase 4
19 Sildenafil and Uteroplacental Perfusion Unknown status NCT01107782 Phase 2, Phase 3
20 Heparin for Pregnant Women With Thrombophilia Unknown status NCT01019655 Phase 3
21 PP13 and Doppler Study to Predict Preeclampsia Unknown status NCT00928213 Phase 2, Phase 3
22 A Randomized Clinical Trial of Oral Magnesium Supplementation in Pregnancy Unknown status NCT02032186 Phase 3
23 Low Dose Aspirin for the Prevention of Preeclampsia Unknown status NCT01890005 Phase 3
24 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3
25 MAXOMAT ® in the Treatment of Severe Early Onset Intrauterine Growth Retardation on Pre-pubertal Children Completed NCT00452491 Phase 3
26 Antepartum Chronic Epidural Therapy (ACET) to Improve Blood Flow to the Uterus, Placenta and Baby in Pre-Eclampsia and Intrauterine Growth Restriction Completed NCT00197340 Phase 3
27 Saizen in Intra-uterine Growth Retardation Completed NCT01400698 Phase 3
28 Genotropin Treatment in Short Prepubertal Children With Intra-Uterine Growth Retardation Completed NCT01073605 Phase 3
29 Study Aimed At Improving Height With Genotonorm In Children Born Little And/Or Light With Growth Retardation At The Age Completed NCT00174252 Phase 3
30 Prevention of Maternal and Perinatal Complications by Enoxaparin in Women With Previous Severe Preeclampsia Completed NCT00986765 Phase 3
31 Low Molecular Weight Heparin and/or Aspirin in Prevention of Habitual Abortion Completed NCT00959621 Phase 3
32 Efficacy and Safety of Growth Hormone Treatment in Children Small for Gestational Age Completed NCT00557336 Phase 3
33 TIPPS: Thrombophilia in Pregnancy Prophylaxis Study Completed NCT00967382 Phase 3
34 Maternal Acupuncture for Substance Abuse Completed NCT00225316 Phase 3
35 Pregnancy Outcomes in Women With Recurrent Pregnancy Loss Treated With Low Dose Aspirin and Unfractionated Heparin Completed NCT02144064 Phase 3
36 Establishing Effectiveness of Daily Co-trimoxazole Prophylaxis For Prevention of Malaria in Pregnancy Completed NCT01053325 Phase 3
37 Effectiveness of Dalteparin Therapy as Intervention in Recurrent Pregnancy Loss Completed NCT00400387 Phase 3
38 Chloroquine for Malaria in Pregnancy Completed NCT01443130 Phase 3
39 High Dose Folic Acid Supplementation Throughout Pregnancy for Preeclampsia Prevention Completed NCT01355159 Phase 3
40 The Dutch STRIDER (Sildenafil TheRapy In Dismal Prognosis Early-onset Fetal Growth Restriction) Recruiting NCT02277132 Phase 2, Phase 3
41 Sildenafil Therapy In Dismal Prognosis Early-Onset Intrauterine Growth Restriction Recruiting NCT02442492 Phase 2, Phase 3
42 Sildenafil Citrate for Treatment of Growth-restricted Fetuses Recruiting NCT03177824 Phase 3
43 A Randomized Trial of Docosahexaenoic Acid Supplementation During Pregnancy to Prevent Deep Placentation Disorders Recruiting NCT02336243 Phase 3
44 Evaluation of the Efficacy of Citrulline Supplementation on the Delay of Delivery for Women Hospitalized for Pre-eclampsia (CITRUPE) Recruiting NCT02801695 Phase 2, Phase 3
45 Low Dose Aspirin in the Prevention of Preeclampsia in China Recruiting NCT02797249 Phase 3
46 Medico-economic Impact of Screening Atopobium Vaginae and Gardnerella Vaginalis in Molecular Biology by "Point-of-care" During Pregnancy Recruiting NCT02288832 Phase 2, Phase 3
47 Impact of a Booster Course of Antenatal Steroids on Neonatal Outcome in Patients With Premature Rupture of the Membranes Recruiting NCT02469519 Phase 2, Phase 3
48 Assessing the Feasibility of Integrating Maternal Nutrition Interventions Into an Existing MNCH Platform in Bangladesh Active, not recruiting NCT02745249 Phase 3
49 Impact of Pre-pregnancy Micronutrient Supplementation on Maternal and Child Outcomes Active, not recruiting NCT01665378 Phase 3
50 A Trial Evaluating the Role of Sildenafil in the Treatment of Fetal Growth Restriction Not yet recruiting NCT02590536 Phase 3

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:

id Genetic test Affiliating Genes
1 Bowen-Conradi Syndrome 29

Anatomical Context for Bowen-Conradi Syndrome

MalaCards organs/tissues related to Bowen-Conradi Syndrome:

39
Testes, Kidney, Brain, Lung, Heart

Publications for Bowen-Conradi Syndrome

Articles related to Bowen-Conradi Syndrome:

(show all 16)
id Title Authors Year
1
Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment. ( 27798105 )
2016
2
Bowen-Conradi Syndrome: a trisomy 18-like autosomal recessive disorder common in Hutterites. ( 25799636 )
2015
3
Growth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression. ( 25708872 )
2015
4
A Hutterite condition that mimics Bowen-Conradi syndrome. ( 25906497 )
2015
5
Mutation of EMG1 causing Bowen-Conradi syndrome results in reduced cell proliferation rates concomitant with G2/M arrest and 18S rRNA processing delay. ( 26676230 )
2014
6
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 I"1191 in yeast 18S rRNA. ( 20972225 )
2011
7
The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase. ( 20047967 )
2010
8
Mystery behind Bowen-Conradi syndrome solved: a novel ribosome biogenesis defect. ( 20096068 )
2010
9
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. ( 19463982 )
2009
10
A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3. ( 15578624 )
2005
11
Bowen-Conradi syndrome: a clinical and genetic study. ( 12838567 )
2003
12
Bowen-Conradi syndrome. ( 12002151 )
2002
13
Bowen-Conradi syndrome in non Hutterite infant. ( 12002150 )
2002
14
Bowen-Conradi syndrome in an Indian infant: first non Hutterite case. ( 11310999 )
2001
15
Hypospadias as a new congenital anomaly in Bowen-Conradi syndrome. ( 7888139 )
1994
16
The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities. ( 484596 )
1979

Variations for Bowen-Conradi Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 EMG1 p.Asp86Gly VAR_062480 rs74435397

ClinVar genetic disease variations for Bowen-Conradi Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 EMG1 NM_006331.7(EMG1): c.257A> G (p.Asp86Gly) single nucleotide variant Pathogenic rs74435397 GRCh37 Chromosome 12, 7083589: 7083589

Expression for Bowen-Conradi Syndrome

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

Pathways for Bowen-Conradi Syndrome

GO Terms for Bowen-Conradi Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.35 CUL4B EIF4A3 EMG1 LARP7 RRP8
2 nucleoplasm GO:0005654 9.02 CUL4B EIF4A3 EMG1 LARP7 RRP8

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

id Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 8.96 EMG1 RRP8
2 rRNA processing GO:0006364 8.8 EIF4A3 EMG1 RRP8

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

id Name GO ID Score Top Affiliating Genes
1 methyltransferase activity GO:0008168 8.96 EMG1 RRP8
2 RNA binding GO:0003723 8.92 EIF4A3 EMG1 LARP7 RRP8

Sources for Bowen-Conradi 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
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42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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