BWCNS
MCID: BWN001
MIFTS: 43

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 58 12 77 54 26 60 76 38 30 13 6 45 15 41 74
Bwcns 58 54 26 76
Bowen-Conradi Hutterite Syndrome 54 26
Bowen Syndrome, Hutterite Type 26 60
Fetal Growth Retardation 45 74
Bowen Hutterite Syndrome, Formerly 58
Bowen Syndrome Hutterite Type 76
Bowen Hutterite Syndrome 26
Hutterite Syndrome 26

Characteristics:

Orphanet epidemiological data:

60
bowen-conradi syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
bowen-conradi syndrome:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050684
OMIM 58 211180
KEGG 38 H00616
MESH via Orphanet 46 C537081
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C1859405
Orphanet 60 ORPHA1270
MedGen 43 C1859405

Summaries for Bowen-Conradi Syndrome

Genetics Home Reference : 26 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 are Ribosome biogenesis in eukaryotes and Gene Expression. Affiliated tissues include brain, kidney and testes, and related phenotypes are joint stiffness and microcephaly

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 : 54 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 : 76 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 : 77 Bowen–Conradi syndrome is a disease in humans that can affect children. The disease is due to an... more...

Description from OMIM: 211180

Related Diseases for Bowen-Conradi Syndrome

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:

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
2 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
3 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
4 feeding difficulties in infancy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008872
5 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
6 severe global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011344
7 sloping forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000340
8 severe postnatal growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008850
9 prominent nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000448
10 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
11 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
12 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
13 rocker bottom foot 60 33 frequent (33%) Frequent (79-30%) HP:0001838
14 severe intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0008846
15 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
16 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
17 oral cleft 60 33 occasional (7.5%) Occasional (29-5%) HP:0000202
18 abnormal lung lobation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002101
19 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
20 malformation of the heart and great vessels 60 Occasional (29-5%)
21 death in infancy 60 Very frequent (99-80%)
22 abnormal joint morphology 33 HP:0001367
23 small for gestational age 33 HP:0001518

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Nuclear 40S maturation defects GR00209-A-2 8.62 EMG1 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 30 EMG1

Anatomical Context for Bowen-Conradi Syndrome

MalaCards organs/tissues related to Bowen-Conradi Syndrome:

42
Brain, Kidney, Testes, Lung, Heart, Placenta

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 Ψ1191 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 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:

76
# 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:

38
# 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
12.89 EMG1 RPS19 RRP8 UTP4
2
Show member pathways
11.61 EMG1 RPS19 UTP4
3 10.98 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 EMG1 LARP7 RPS19 RRP8 UTP4
2 nucleolus GO:0005730 9.46 EMG1 RPS19 RRP8 UTP4
3 nucleoplasm GO:0005654 9.35 EMG1 LARP7 RPS19 RRP8 UTP4
4 small-subunit processome GO:0032040 8.62 EMG1 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 9.37 EMG1 RRP8
2 ribosome biogenesis GO:0042254 9.32 EMG1 UTP4
3 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.26 RPS19 UTP4
4 ribosomal small subunit biogenesis GO:0042274 9.16 EMG1 RPS19
5 maturation of SSU-rRNA GO:0030490 8.96 RPS19 UTP4
6 rRNA processing GO:0006364 8.92 EMG1 RPS19 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 EMG1 LARP7 RPS19 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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