MCID: BWN001
MIFTS: 40

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 54 12 50 25 56 71 29 13 14 69
Bwcns 50 25 71
Bowen-Conradi Hutterite Syndrome 50 25
Bowen Syndrome, Hutterite Type 25 56
Fetal Growth Retardation 42 69
Bowen Syndrome Hutterite Type 71
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;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

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


Classifications:



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 gracile syndrome and hypospadias, and has symptoms including short stature, ventriculomegaly and seizures. An important gene associated with Bowen-Conradi Syndrome is EMG1 (EMG1, N1-Specific Pseudouridine Methyltransferase), and among its related pathways/superpathways are Gene Expression and Ribosome biogenesis in eukaryotes. Affiliated tissues include testes, kidney and brain, and related phenotype is Increased shRNA abundance (Z-score > 2).

NIH Rare Diseases : 50 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

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.

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 19)
id Related Disease Score Top Affiliating Genes
1 gracile syndrome 10.8
2 hypospadias 10.0
3 microcephaly 10.0
4 placental insufficiency 10.0
5 aminoaciduria 9.9
6 lactic acidosis 9.9
7 insulin-like growth factor i 9.8
8 pre-eclampsia 9.8
9 eclampsia 9.8
10 exencephaly 9.6
11 fetal hydantoin syndrome 9.6
12 febrile seizures 9.6
13 neural tube defects 9.6
14 hypoxia 9.6
15 endotheliitis 9.6
16 lysinuric protein intolerance 9.6
17 hellp syndrome 9.6
18 cholestasis 9.6
19 thrombocytopenia 5 7.9 EIF4A3 EMG1 LARP7 RRP8 UTP4

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:

54

Cranium:
microcephaly

Limbs:
rocker-bottom feet
fifth finger clinodactyly

Nose:
prominent nose

Mandible:
micrognathia

Growth:
low birth weight
lethal in months

Joints:
mild restriction


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 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
3 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
5 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
6 sloping forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0000340
7 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
8 prominent nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0000448
9 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001387
10 feeding difficulties in infancy 56 32 hallmark (90%) Very frequent (99-80%) HP:0008872
11 abnormal lung lobation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002101
12 severe postnatal growth retardation 56 32 hallmark (90%) Very frequent (99-80%) HP:0008850
13 oral cleft 56 32 occasional (7.5%) Occasional (29-5%) HP:0000202
14 severe global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0011344
15 clinodactyly of the 5th finger 56 32 frequent (33%) Frequent (79-30%) HP:0004209
16 camptodactyly of finger 56 32 frequent (33%) Frequent (79-30%) HP:0100490
17 rocker bottom foot 56 32 frequent (33%) Frequent (79-30%) HP:0001838
18 severe intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0008846
19 small for gestational age 32 HP:0001518
20 death in infancy 56 Very frequent (99-80%)
21 malformation of the heart and great vessels 56 Occasional (29-5%)
22 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
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 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:

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
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:

71
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

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.35 EIF4A3 EMG1 LARP7 RRP8 UTP4
2 nucleolus GO:0005730 8.8 EMG1 RRP8 UTP4

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 9.16 EMG1 RRP8
2 rRNA processing GO:0006364 8.92 EIF4A3 EMG1 RRP8 UTP4
3 ribosome biogenesis GO:0042254 8.65 EMG1

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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