MCID: BWN001
MIFTS: 44

Bowen-Conradi Syndrome

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

Aliases & Classifications for Bowen-Conradi Syndrome

MalaCards integrated aliases for Bowen-Conradi Syndrome:

Name: Bowen-Conradi Syndrome 53 12 49 24 55 71 36 28 13 14 69
Bwcns 53 49 24 71
Bowen-Conradi Hutterite Syndrome 49 24
Bowen Syndrome, Hutterite Type 24 55
Fetal Growth Retardation 41 69
Bowen Hutterite Syndrome, Formerly 53
Bowen Syndrome Hutterite Type 71
Bowen Hutterite Syndrome 24
Hutterite Syndrome 24

Characteristics:

Orphanet epidemiological data:

55
bowen-conradi syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
bowen-conradi syndrome:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 211180
Disease Ontology 12 DOID:0050684
Orphanet 55 ORPHA1270
MESH via Orphanet 42 C537081
UMLS via Orphanet 70 C1859405
ICD10 via Orphanet 33 Q87.8
MedGen 39 C1859405
MeSH 41 D005317
KEGG 36 H00616

Summaries for Bowen-Conradi Syndrome

Genetics Home Reference : 24 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 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 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), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and Gene Expression. Affiliated tissues include brain, kidney and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot : 71 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.

NIH Rare Diseases : 49 Bowen-Conradi syndromeis 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

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 22)
# Related Disease Score Top Affiliating Genes
1 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 11.1
2 gracile syndrome 10.9
3 hypospadias 10.1
4 microcephaly 10.1
5 placental insufficiency 10.0
6 hemosiderosis 9.9
7 lactic acidosis 9.9
8 aminoaciduria 9.9
9 insulin-like growth factor i 9.8
10 pre-eclampsia 9.8
11 eclampsia 9.8
12 neural tube defects 9.7
13 lysinuric protein intolerance 9.7
14 neural tube defects, folate-sensitive 9.7
15 diabetes mellitus 9.7
16 hellp syndrome 9.7
17 cholestasis 9.7
18 exencephaly 9.7
19 fetal hydantoin syndrome 9.7
20 febrile seizures 9.7
21 hypoxia 9.7
22 endotheliitis 9.7

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 via clinical synopsis from OMIM:

53
Cranium:
microcephaly

Nose:
prominent nose

Growth:
low birth weight
lethal in months

Mandible:
micrognathia

Limbs:
fifth finger clinodactyly
rocker-bottom feet

Joints:
mild restriction


Clinical features from OMIM:

211180

Human phenotypes related to Bowen-Conradi Syndrome:

55 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 feeding difficulties in infancy 55 31 hallmark (90%) Very frequent (99-80%) HP:0008872
6 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
7 severe global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0011344
8 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
9 ventriculomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002119
10 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
11 camptodactyly of finger 55 31 frequent (33%) Frequent (79-30%) HP:0100490
12 oral cleft 55 31 occasional (7.5%) Occasional (29-5%) HP:0000202
13 sloping forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000340
14 severe postnatal growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0008850
15 abnormal lung lobation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002101
16 prominent nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0000448
17 rocker bottom foot 55 31 frequent (33%) Frequent (79-30%) HP:0001838
18 severe intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0008846
19 malformation of the heart and great vessels 55 Occasional (29-5%)
20 death in infancy 55 Very frequent (99-80%)
21 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
22 abnormal joint morphology 31 HP:0001367
23 small for gestational age 31 HP:0001518

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

25 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.93 EIF4A3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.93 UTP4 EIF4A3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.93 UTP4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.93 UTP4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.93 UTP4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.93 EIF4A3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.93 EIF4A3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.93 EIF4A3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.93 EIF4A3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.93 EIF4A3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.93 UTP4
12 Nuclear 40S maturation defects GR00209-A-2 9.13 EIF4A3 EMG1 UTP4
13 Nucleoplasmic pre-40S maturation defects GR00209-A-1 8.62 EIF4A3 UTP4

Drugs & Therapeutics for Bowen-Conradi Syndrome

Search Clinical Trials , 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 28 EMG1

Anatomical Context for Bowen-Conradi Syndrome

MalaCards organs/tissues related to Bowen-Conradi Syndrome:

38
Brain, Kidney, Testes, Lung, Heart

Publications for Bowen-Conradi Syndrome

Articles related to Bowen-Conradi Syndrome:

(show all 16)
# Title Authors Year
1
Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment. ( 27798105 )
2016
2
Growth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression. ( 25708872 )
2015
3
Bowen-Conradi Syndrome: a trisomy 18-like autosomal recessive disorder common in Hutterites. ( 25799636 )
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
Mystery behind Bowen-Conradi syndrome solved: a novel ribosome biogenesis defect. ( 20096068 )
2010
8
The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase. ( 20047967 )
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 in non Hutterite infant. ( 12002150 )
2002
13
Bowen-Conradi syndrome. ( 12002151 )
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:

71
# Symbol AA change Variation ID SNP ID
1 EMG1 p.Asp86Gly VAR_062480 rs74435397

ClinVar genetic disease variations for Bowen-Conradi Syndrome:

6
# 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

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
12.69 EIF4A3 EMG1 RRP8 UTP4
2 10.65 EMG1 UTP4

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 nucleoplasm GO:0005654 9.35 EIF4A3 EMG1 LARP7 RRP8 UTP4
2 nucleolus GO:0005730 8.92 EIF4A3 EMG1 RRP8 UTP4

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

# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.16 EMG1 RRP8
2 ribosome biogenesis GO:0042254 8.96 EMG1 UTP4
3 rRNA processing GO:0006364 8.92 EIF4A3 EMG1 RRP8 UTP4

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 9.02 EIF4A3 EMG1 LARP7 RRP8 UTP4
2 methyltransferase activity GO:0008168 8.96 EMG1 RRP8

Sources for Bowen-Conradi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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