CUGS
MCID: CRD245
MIFTS: 37

Cardiac-Urogenital Syndrome (CUGS)

Categories: Genetic diseases, Immune diseases, Respiratory diseases

Aliases & Classifications for Cardiac-Urogenital Syndrome

MalaCards integrated aliases for Cardiac-Urogenital Syndrome:

Name: Cardiac-Urogenital Syndrome 57 73 36 29 6 17
Cugs 57 73
Urogenital Abnormalities 44

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
cardiac defects noted on prenatal ultrasound


HPO:

31
cardiac-urogenital syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiac-Urogenital Syndrome

KEGG : 36 Cardiac-urogenital syndrome (CUGS) is characterized by congenital diaphragmatic hernia, congenital heart disease and genitourinary abnormalities. Mutations in MYRF have been identified in patients. MYRF is a membrane-associated transcription factor that plays a pivotal role in oligodendrocyte differentiation and myelination.

MalaCards based summary : Cardiac-Urogenital Syndrome, also known as cugs, is related to dk phocomelia syndrome and alpha-thalassemia/mental retardation syndrome, x-linked. An important gene associated with Cardiac-Urogenital Syndrome is MYRF (Myelin Regulatory Factor). The drugs Racepinephrine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include spleen, heart and uterus, and related phenotypes are intellectual disability and motor delay

OMIM® : 57 Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism (Pinz et al., 2018). (618280) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Cardiac-urogenital syndrome: An autosomal dominant syndrome characterized by partial anomalous pulmonary venous return, tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism.

Related Diseases for Cardiac-Urogenital Syndrome

Diseases related to Cardiac-Urogenital Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 dk phocomelia syndrome 10.9
2 alpha-thalassemia/mental retardation syndrome, x-linked 10.9
3 schimmelpenning-feuerstein-mims syndrome 10.9
4 fraser syndrome 1 10.9
5 meier-gorlin syndrome 1 10.9
6 rudiger syndrome 10.9
7 tonne-kalscheuer syndrome 10.9
8 hypotonia, ataxia, and delayed development syndrome 10.9
9 fraser syndrome 2 10.9
10 fraser syndrome 3 10.9
11 cryptorchidism, unilateral or bilateral 10.1
12 pagod syndrome 10.0
13 meacham syndrome 10.0
14 renal hypodysplasia/aplasia 1 9.9
15 growth hormone deficiency 9.9
16 prune belly syndrome 9.8
17 cat eye syndrome 9.8
18 cleft palate, isolated 9.8
19 duane retraction syndrome 1 9.8
20 hirschsprung disease 1 9.8
21 optic nerve hypoplasia, bilateral 9.8
22 silver-russell syndrome 1 9.8
23 neural tube defects 9.8
24 split-hand/foot malformation 1 9.8
25 wilms tumor 1 9.8
26 denys-drash syndrome 9.8
27 anus, imperforate 9.8
28 cystic fibrosis 9.8
29 hemihyperplasia, isolated 9.8
30 branchiootic syndrome 1 9.8
31 polydactyly 9.8
32 testicular microlithiasis 9.8
33 congenital hypothyroidism 9.8
34 ptosis 9.8
35 omphalocele 9.8
36 thrombosis 9.8
37 split hand-foot malformation 9.8
38 alpha thalassemia-x-linked intellectual disability syndrome 9.8
39 microphthalmia 9.8
40 hypospadias 9.8
41 microcephaly 9.8
42 prostatic hypertrophy 9.8
43 oligohydramnios 9.8
44 varicocele 9.8
45 leukemia 9.8
46 acute cystitis 9.8
47 amenorrhea 9.8
48 hypothyroidism 9.8
49 thrombocytopenia 9.8
50 ectodermal dysplasia 9.8

Graphical network of the top 20 diseases related to Cardiac-Urogenital Syndrome:



Diseases related to Cardiac-Urogenital Syndrome

Symptoms & Phenotypes for Cardiac-Urogenital Syndrome

Human phenotypes related to Cardiac-Urogenital Syndrome:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 motor delay 31 very rare (1%) HP:0001270
3 cryptorchidism 31 HP:0000028
4 atrial septal defect 31 HP:0001631
5 hypoplastic left heart 31 HP:0004383
6 micropenis 31 HP:0000054
7 bifid scrotum 31 HP:0000048
8 tetralogy of fallot 31 HP:0001636
9 patent ductus arteriosus 31 HP:0001643
10 ventricular septal defect 31 HP:0001629
11 intestinal malrotation 31 HP:0002566
12 ambiguous genitalia 31 HP:0000062
13 dextrocardia 31 HP:0001651
14 accessory spleen 31 HP:0001747
15 pulmonary hypoplasia 31 HP:0002089
16 aplasia of the uterus 31 HP:0000151
17 patent urachus 31 HP:0010479
18 dysplastic tricuspid valve 31 HP:0030732
19 bronchomalacia 31 HP:0002780
20 scimitar anomaly 31 HP:0011626
21 hepatopulmonary fusion 31 HP:0410259

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Genitourinary Internal Genitalia Male:
cryptorchidism
hepatotesticular fusion
splenotesticular fusion

Genitourinary External Genitalia Male:
micropenis
bifid scrotum
ambiguous genitalia
hypospadias, penoscrotal
poorly defined urethral meatus

Abdomen Spleen:
accessory spleen
splenotesticular fusion
central fork-like cleft

Respiratory Airways:
bronchomalacia
narrowing of mid to distal trachea
abnormal bronchial branching

Genitourinary Bladder:
persistent urachus

Neurologic Central Nervous System:
motor delay (rare)
intellectual disability (rare)

Cardiovascular Vascular:
anomalous pulmonary venous return, partial or total
ascending aortic arch hypoplasia
transverse aortic arch hypoplasia
dextroposition and hypoplasia of right pulmonary artery
retroesophageal right subclavian artery

Endocrine Features:
interstitial fibrosis of thyroid gland

Cardiovascular Heart:
atrial septal defect
hypoplastic left heart
tetralogy of fallot
patent ductus arteriosus
ventricular septal defect
more
Abdomen Gastrointestinal:
intestinal malrotation
meckel band

Respiratory Lung:
pulmonary hypoplasia
hepatopulmonary fusion

Abdomen Liver:
hepatopulmonary fusion
hepatotesticular fusion

Genitourinary Internal Genitalia Female:
absent uterus
blind-ending vagina
absent ovaries

Head And Neck Neck:
thymic involution

Chest Diaphragm:
left diaphragmatic hernia
right diaphragmatic hernia

Clinical features from OMIM®:

618280 (Updated 05-Mar-2021)

Drugs & Therapeutics for Cardiac-Urogenital Syndrome

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved Phase 1 329-65-7 838
2
Epinephrine Approved, Vet_approved Phase 1 51-43-4 5816
3
Hydrocortisone acetate Approved, Vet_approved Phase 1 50-03-3
4
Hydrocortisone Approved, Vet_approved Phase 1 50-23-7 5754
5 Anti-Inflammatory Agents Phase 1
6 Hormone Antagonists Phase 1
7 Hormones Phase 1
8 Epinephryl borate Phase 1
9 glucocorticoids Phase 1
10 Hydrocortisone hemisuccinate Phase 1
11 Hydrocortisone 17-butyrate 21-propionate Phase 1
12 Hydrocortisone-17-butyrate Phase 1
13
Caffeine Approved 58-08-2 2519
14
Formaldehyde Approved, Vet_approved 50-00-0 712
15
Calcium polycarbophil Approved Early Phase 1 126040-58-2
16 Coconut Approved Early Phase 1
17 Pharmaceutical Solutions
18 Androgens
19 Psyllium Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Interval Bolus Delivery of Subcutaneous Hydrocortisone Via Infusion Pump in Children With Congenital Adrenal Hyperplasia Recruiting NCT03718234 Phase 1 Subcutaneous hydrocortisone;Standard glucocorticoid therapy
2 Biomechanical Assessment of Level Gait in Patient's Status Post Bladder Exstrophy Completed NCT00863070
3 WAGR Syndrome and Other 11p Contiguous Gene Deletions: Clinical Characterization and Correlation With Genotype Completed NCT00758108
4 Integrated Community Case Management of Common Childhood Diseases: Mozambique and Uganda Completed NCT01972321
5 Using Anogenital Distance to Determinate Fetal Gender Beetween 18 et 41 Weeks of Gestation. Recruiting NCT03898440
6 Distribution of Smooth Muscle In Dartos In The Non Conspicuous Penis, an Observational a Prospective, Descriptive, Observational Study Recruiting NCT03295175
7 Long Term Assessment and Outcome of Adult Patients With Congenital Genitourinary Abnormalities. Recruiting NCT03061084
8 Congenital Uterine Anomalies: Identifying Cancer Associations and Genetic and Environmental Factors to Improve Clinical Care Not yet recruiting NCT04661072
9 GSM (Genitourinary Syndrome Of Menopause) Management In Breast Cancer Survivors Terminated NCT03185169 Early Phase 1
10 Evaluation of Whether the Selective Progesterone Receptor Modulator CDB-2914 Can Reduce Bleeding in Premenopausal Women With Abnormal Uterine Bleeding: A Pilot Study Withdrawn NCT01493791 Early Phase 1 CDB-2914

Search NIH Clinical Center for Cardiac-Urogenital Syndrome

Cochrane evidence based reviews: urogenital abnormalities

Genetic Tests for Cardiac-Urogenital Syndrome

Genetic tests related to Cardiac-Urogenital Syndrome:

# Genetic test Affiliating Genes
1 Cardiac-Urogenital Syndrome 29 MYRF

Anatomical Context for Cardiac-Urogenital Syndrome

MalaCards organs/tissues related to Cardiac-Urogenital Syndrome:

40
Spleen, Heart, Uterus, Smooth Muscle, Thyroid, Trachea

Publications for Cardiac-Urogenital Syndrome

Articles related to Cardiac-Urogenital Syndrome:

(show all 13)
# Title Authors PMID Year
1
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. 57 6
30532227 2018
2
An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. (). 57 6
30070761 2018
3
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. 6 57
29446546 2018
4
The clinical overlap between cardiac-urogenital syndrome, Meacham syndrome, and PAGOD syndrome. Report of a new patient with cardiac-urogenital syndrome. 61
32181572 2020
5
Myotonic dystrophy: candidate small molecule therapeutics. 61
28780071 2017
6
Cooperation meets competition in microRNA-mediated DMPK transcript regulation. 61
26304544 2015
7
Candida albicans CUG mistranslation is a mechanism to create cell surface variation. 61
23800396 2013
8
Biological action of parathyroid hormone (PTH)-related peptide (PTHrP) mediated either by the PTH/PTHrP receptor or the nucleolar translocation in chondrocytes. 61
12557418 2002
9
Inefficient function of the signal sequence of PTHrP for targeting into the secretory pathway. 61
10873655 2000
10
Endogenous basic fibroblast growth factor isoforms involved in different intracellular protein complexes. 61
9337877 1997
11
The sea pansy Renilla reniformis luciferase serves as a sensitive bioluminescent reporter for differential gene expression in Candida albicans. 61
8550405 1996
12
Translational enhancement of FGF-2 by eIF-4 factors, and alternate utilization of CUG and AUG codons for translation initiation. 61
8570185 1995
13
Studies on FGF-2: nuclear localization and function of high molecular weight forms and receptor binding in the absence of heparin. 61
7999354 1994

Variations for Cardiac-Urogenital Syndrome

ClinVar genetic disease variations for Cardiac-Urogenital Syndrome:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYRF NM_001127392.3(MYRF):c.2336+1G>A SNV Pathogenic 373200 rs1057518279 11:61547403-61547403 11:61779931-61779931
2 MYRF NM_001127392.3(MYRF):c.2518C>T (p.Arg840Ter) SNV Pathogenic 599372 rs1565304230 11:61548463-61548463 11:61780991-61780991
3 MYRF NM_001127392.3(MYRF):c.1254_1255dup (p.Thr419fs) Duplication Pathogenic 599373 rs1565295395 11:61541575-61541576 11:61774103-61774104
4 MYRF NM_001127392.3(MYRF):c.1303G>A (p.Gly435Arg) SNV Pathogenic 619228 rs1565295550 11:61541626-61541626 11:61774154-61774154
5 MYRF NM_001127392.3(MYRF):c.3118A>G (p.Arg1040Gly) SNV Pathogenic 635274 rs1565307564 11:61551071-61551071 11:61783599-61783599
6 MYRF NM_001127392.3(MYRF):c.3239dup (p.Glu1081fs) Duplication Pathogenic 635275 rs1565308384 11:61551793-61551794 11:61784321-61784322
7 MYRF NM_001127392.3(MYRF):c.350_366delinsT (p.Gly117fs) Indel Pathogenic 635276 rs1565286228 11:61533645-61533661 11:61766173-61766189
8 MYRF NM_001127392.3(MYRF):c.2572+1G>A SNV Pathogenic 929443 11:61548518-61548518 11:61781046-61781046
9 MYRF NM_001127392.3(MYRF):c.2074C>G (p.Leu692Val) SNV Likely pathogenic 929446 11:61546795-61546795 11:61779323-61779323
10 MYRF NM_001127392.3(MYRF):c.2042C>A (p.Ala681Asp) SNV Likely pathogenic 986362 11:61546763-61546763 11:61779291-61779291
11 MYRF NM_001127392.3(MYRF):c.3367G>A (p.Ala1123Thr) SNV Uncertain significance 802678 rs1591137099 11:61553338-61553338 11:61785866-61785866
12 MYRF NM_001127392.3(MYRF):c.2084G>A (p.Arg695His) SNV Uncertain significance 619229 rs1382225004 11:61546805-61546805 11:61779333-61779333

UniProtKB/Swiss-Prot genetic disease variations for Cardiac-Urogenital Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 MYRF p.Gly435Arg VAR_081884 rs156529555

Expression for Cardiac-Urogenital Syndrome

Search GEO for disease gene expression data for Cardiac-Urogenital Syndrome.

Pathways for Cardiac-Urogenital Syndrome

GO Terms for Cardiac-Urogenital Syndrome

Sources for Cardiac-Urogenital Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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