MCID: BWN001
MIFTS: 43

Bowen-Conradi Syndrome

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

Aliases & Classifications for Bowen-Conradi Syndrome

MalaCards integrated aliases for Bowen-Conradi Syndrome:

Name: Bowen-Conradi Syndrome 57 12 53 25 59 75 37 29 13 6 15 40 73
Bwcns 57 53 25 75
Bowen-Conradi Hutterite Syndrome 53 25
Bowen Syndrome, Hutterite Type 25 59
Fetal Growth Retardation 44 73
Bowen Hutterite Syndrome, Formerly 57
Bowen Syndrome Hutterite Type 75
Bowen Hutterite Syndrome 25
Hutterite Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
bowen-conradi syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 57 211180
Disease Ontology 12 DOID:0050684
Orphanet 59 ORPHA1270
MESH via Orphanet 45 C537081
UMLS via Orphanet 74 C1859405
ICD10 via Orphanet 34 Q87.8
MedGen 42 C1859405
MeSH 44 D005317
KEGG 37 H00616

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 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies and gracile syndrome. An important gene associated with Bowen-Conradi Syndrome is EMG1 (EMG1, N1-Specific Pseudouridine Methyltransferase), and among its related pathways/superpathways is Ribosome biogenesis in eukaryotes. Affiliated tissues include testes, brain and kidney, and related phenotypes are cryptorchidism and oral cleft

NIH Rare Diseases : 53 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.

UniProtKB/Swiss-Prot : 75 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 : 76 Bowen–Conradi syndrome (BCS or BWCNS) is a disease in humans that can affect children. The disease is... more...

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 24)
# 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 placenta disease 10.0
7 hemosiderosis 9.9
8 lactic acidosis 9.9
9 aminoaciduria 9.9
10 insulin-like growth factor i 9.8
11 pre-eclampsia 9.8
12 eclampsia 9.8
13 neural tube defects 9.7
14 lysinuric protein intolerance 9.7
15 neural tube defects, folate-sensitive 9.7
16 diabetes mellitus 9.7
17 hellp syndrome 9.7
18 cholestasis 9.7
19 thrombophilia 9.7
20 exencephaly 9.7
21 fetal hydantoin syndrome 9.7
22 febrile seizures 9.7
23 hypoxia 9.7
24 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:

57
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:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
2 oral cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0000202
3 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
4 sloping forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000340
5 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
6 prominent nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000448
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
9 rocker bottom foot 59 32 frequent (33%) Frequent (79-30%) HP:0001838
10 abnormal lung lobation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002101
11 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
12 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
13 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
14 severe intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0008846
15 severe postnatal growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008850
16 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
17 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
18 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
19 death in infancy 59 Very frequent (99-80%)
20 malformation of the heart and great vessels 59 Occasional (29-5%)
21 abnormal joint morphology 32 HP:0001367
22 small for gestational age 32 HP:0001518
23 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680

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

26 (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 EIF4A3 UTP4
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 29 EMG1

Anatomical Context for Bowen-Conradi Syndrome

MalaCards organs/tissues related to Bowen-Conradi Syndrome:

41
Testes, Brain, Kidney, Heart, Lung

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
A Hutterite condition that mimics Bowen-Conradi syndrome. ( 25906497 )
2015
4
Bowen-Conradi Syndrome: a trisomy 18-like autosomal recessive disorder common in Hutterites. ( 25799636 )
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. ( 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:

75
# 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
2 EMG1 NM_006331.7(EMG1): c.257A> G (p.Asp86Gly) single nucleotide variant Pathogenic rs74435397 GRCh38 Chromosome 12, 6974427: 6974427

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:

37
# 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 10.64 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 nucleus GO:0005634 9.65 EIF4A3 EMG1 ENSG00000126749 LARP7 UTP4
2 nucleoplasm GO:0005654 9.55 EIF4A3 EMG1 ENSG00000126749 LARP7 UTP4
3 small-subunit processome GO:0032040 8.96 EMG1 ENSG00000126749
4 nucleolus GO:0005730 8.92 EIF4A3 EMG1 ENSG00000126749 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 9.32 EMG1 ENSG00000126749
2 ribosome biogenesis GO:0042254 9.26 ENSG00000126749 UTP4
3 ribosomal small subunit biogenesis GO:0042274 9.16 EMG1 ENSG00000126749
4 rRNA base methylation GO:0070475 8.96 EMG1 ENSG00000126749
5 rRNA processing GO:0006364 8.92 EIF4A3 EMG1 ENSG00000126749 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 9.35 EIF4A3 EMG1 ENSG00000126749 LARP7 UTP4
2 methyltransferase activity GO:0008168 9.26 EMG1 ENSG00000126749
3 rRNA binding GO:0019843 9.16 EMG1 ENSG00000126749
4 rRNA (pseudouridine) methyltransferase activity GO:0070037 8.62 EMG1 ENSG00000126749

Sources for Bowen-Conradi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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