CUGS
MCID: CRD245
MIFTS: 35

Cardiac-Urogenital Syndrome (CUGS)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Cardiac-Urogenital Syndrome

MalaCards integrated aliases for Cardiac-Urogenital Syndrome:

Name: Cardiac-Urogenital Syndrome 57 74 6
Cugs 57 74
Urogenital Abnormalities 44

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
cardiac defects noted on prenatal ultrasound


HPO:

32
cardiac-urogenital syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 618280

Summaries for Cardiac-Urogenital Syndrome

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)

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 Ofloxacin and Levofloxacin have been mentioned in the context of this disorder. Affiliated tissues include spleen, thyroid and uterus, and related phenotypes are intellectual disability and motor delay

UniProtKB/Swiss-Prot : 74 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 109)
# Related Disease Score Top Affiliating Genes
1 dk phocomelia syndrome 11.3
2 alpha-thalassemia/mental retardation syndrome, x-linked 11.3
3 schimmelpenning-feuerstein-mims syndrome 11.0
4 fraser syndrome 1 11.0
5 meier-gorlin syndrome 1 11.0
6 rudiger syndrome 11.0
7 tonne-kalscheuer syndrome 11.0
8 hypotonia, ataxia, and delayed development syndrome 11.0
9 fraser syndrome 2 11.0
10 fraser syndrome 3 11.0
11 myotonic dystrophy 10.9
12 myotonia atrophica 10.9
13 myotonic dystrophy 1 10.6
14 neuromuscular disease 10.5
15 muscular dystrophy 10.3
16 huntington disease 10.3
17 ataxia and polyneuropathy, adult-onset 10.3
18 autosomal dominant cerebellar ataxia 10.3
19 muscular atrophy 10.3
20 myotonic dystrophy 2 10.2
21 myopathy 10.2
22 myotonia 10.2
23 rapidly involuting congenital hemangioma 10.2
24 small cell cancer of the lung 10.1
25 lung cancer 10.1
26 hydronephrosis 10.1
27 cryptorchidism, unilateral or bilateral 10.0
28 amyotrophic lateral sclerosis 1 10.0
29 candidiasis, familial, 1 10.0
30 neurofibromatosis, type iv, of riccardi 10.0
31 parkinson disease, late-onset 10.0
32 triiodothyronine receptor auxiliary protein 10.0
33 wilms tumor 1 10.0
34 pancreatic cancer 10.0
35 fragile x syndrome 10.0
36 frontotemporal dementia 10.0
37 wilms tumor 5 10.0
38 huntington disease-like 2 10.0
39 amyotrophic lateral sclerosis 3 10.0
40 spinocerebellar ataxia 8 10.0
41 lung cancer susceptibility 3 10.0
42 spinocerebellar ataxia 36 10.0
43 helix syndrome 10.0
44 t-cell lymphoma, subcutaneous panniculitis-like 10.0
45 lymphoma 10.0
46 spinal muscular atrophy 10.0
47 dilated cardiomyopathy 10.0
48 myotonia congenita 10.0
49 lateral sclerosis 10.0
50 hepatitis e 10.0

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:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 very rare (1%) HP:0001249
2 motor delay 32 very rare (1%) HP:0001270
3 patent ductus arteriosus 32 HP:0001643
4 cryptorchidism 32 HP:0000028
5 atrial septal defect 32 HP:0001631
6 hypoplastic left heart 32 HP:0004383
7 micropenis 32 HP:0000054
8 bifid scrotum 32 HP:0000048
9 tetralogy of fallot 32 HP:0001636
10 ventricular septal defect 32 HP:0001629
11 intestinal malrotation 32 HP:0002566
12 ambiguous genitalia 32 HP:0000062
13 accessory spleen 32 HP:0001747
14 dextrocardia 32 HP:0001651
15 pulmonary hypoplasia 32 HP:0002089
16 aplasia of the uterus 32 HP:0000151
17 bronchomalacia 32 HP:0002780
18 patent urachus 32 HP:0010479
19 scimitar anomaly 32 HP:0011626
20 dysplastic tricuspid valve 32 HP:0030732
21 hepatopulmonary fusion 32 HP:0410259

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
patent ductus arteriosus
atrial septal defect
hypoplastic left heart
tetralogy of fallot
ventricular septal defect
more
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

Genitourinary Internal Genitalia Male:
cryptorchidism
hepatotesticular fusion
splenotesticular fusion

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

Drugs & Therapeutics for Cardiac-Urogenital Syndrome

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ofloxacin Approved Phase 2 82419-36-1 4583
2
Levofloxacin Approved, Investigational Phase 2 100986-85-4 149096
3
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
4 Renal Agents Phase 2
5 Cytochrome P-450 Enzyme Inhibitors Phase 2
6 Anti-Bacterial Agents Phase 2
7 Topoisomerase Inhibitors Phase 2
8 Anti-Infective Agents, Urinary Phase 2
9 Antiparasitic Agents Phase 2
10 Cytochrome P-450 CYP1A2 Inhibitors Phase 2
11 Antimalarials Phase 2
12 Anti-Infective Agents Phase 2
13 Antiprotozoal Agents Phase 2
14
Hydrocortisone Approved, Vet_approved Phase 1 50-23-7 5754
15
Hydrocortisone acetate Approved, Vet_approved Phase 1 50-03-3
16 Anti-Inflammatory Agents Phase 1
17 Hormones Phase 1
18 glucocorticoids Phase 1
19 Hydrocortisone-17-butyrate Phase 1
20 Hormone Antagonists Phase 1
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
22 Hydrocortisone 17-butyrate 21-propionate Phase 1
23 Hydrocortisone hemisuccinate Phase 1
24
Caffeine Approved 58-08-2 2519
25
Formaldehyde Approved, Vet_approved 50-00-0 712
26
Loperamide Approved Early Phase 1 53179-11-6 3955
27 Coconut Approved Early Phase 1
28
Calcium polycarbophil Approved Early Phase 1 126040-58-2
29
Calcium Approved, Nutraceutical Early Phase 1 7440-70-2 271
30 Pharmaceutical Solutions
31 Androgens
32 Gastrointestinal Agents Early Phase 1
33 Cathartics Early Phase 1
34 Psyllium Early Phase 1
35 Laxatives Early Phase 1
36 Calcium, Dietary Early Phase 1
37 Antidiarrheals Early Phase 1

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Comparative Controlled Trial of Treatment of Minor Unexpected Uterine Cavity Abnormalities Diagnosed by Office Hysteroscopy Screening in Women Indicated for IVF Terminated NCT00830401 Phase 2 Ofloxacinum/Doxycycline
2 Interval Bolus Delivery of Subcutaneous Hydrocortisone Via Infusion Pump in Children With Congenital Adrenal Hyperplasia Recruiting NCT03718234 Phase 1 Subcutaneous hydrocortisone;Standard glucocorticoid therapy
3 A Phase 1, Open-Label, Single-Dose, Sequential Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1 NBI-77860;NBI-77860;NBI-77860
4 Prevalence of Congenital Uterine Malformations in Women With a History of Preterm Delivery or Miscarriage Unknown status NCT01487616
5 Biomechanical Assessment of Level Gait in Patient's Status Post Bladder Exstrophy Completed NCT00863070
6 WAGR Syndrome and Other 11p Contiguous Gene Deletions: Clinical Characterization and Correlation With Genotype Completed NCT00758108
7 Integrated Community Case Management of Common Childhood Diseases: Mozambique and Uganda Completed NCT01972321
8 Using Anogenital Distance to Determinate Fetal Gender Beetween 18 et 41 Weeks of Gestation. Recruiting NCT03898440
9 Long Term Assessment and Outcome of Adult Patients With Congenital Genitourinary Abnormalities. Recruiting NCT03061084
10 Distribution of Smooth Muscle In Dartos In The Non Conspicuous Penis, an Observational a Prospective, Descriptive, Observational Study Recruiting NCT03295175
11 GSM (Genitourinary Syndrome Of Menopause) Management In Breast Cancer Survivors Terminated NCT03185169 Early Phase 1
12 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

Anatomical Context for Cardiac-Urogenital Syndrome

MalaCards organs/tissues related to Cardiac-Urogenital Syndrome:

41
Spleen, Thyroid, Uterus, Heart, Ovary, Breast, Smooth Muscle

Publications for Cardiac-Urogenital Syndrome

Articles related to Cardiac-Urogenital Syndrome:

(show all 12)
# 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. 8 71
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. (). 8 71
30070761 2018
3
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. 8 71
29446546 2018
4
Myotonic dystrophy: candidate small molecule therapeutics. 38
28780071 2017
5
Cooperation meets competition in microRNA-mediated DMPK transcript regulation. 38
26304544 2015
6
Candida albicans CUG mistranslation is a mechanism to create cell surface variation. 38
23800396 2013
7
Biological action of parathyroid hormone (PTH)-related peptide (PTHrP) mediated either by the PTH/PTHrP receptor or the nucleolar translocation in chondrocytes. 38
12557418 2002
8
Inefficient function of the signal sequence of PTHrP for targeting into the secretory pathway. 38
10873655 2000
9
Endogenous basic fibroblast growth factor isoforms involved in different intracellular protein complexes. 38
9337877 1997
10
The sea pansy Renilla reniformis luciferase serves as a sensitive bioluminescent reporter for differential gene expression in Candida albicans. 38
8550405 1996
11
Translational enhancement of FGF-2 by eIF-4 factors, and alternate utilization of CUG and AUG codons for translation initiation. 38
8570185 1995
12
Studies on FGF-2: nuclear localization and function of high molecular weight forms and receptor binding in the absence of heparin. 38
7999354 1994

Variations for Cardiac-Urogenital Syndrome

ClinVar genetic disease variations for Cardiac-Urogenital Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MYRF NM_001127392.3(MYRF): c.2518C> T (p.Arg840Ter) single nucleotide variant Pathogenic 11:61548463-61548463 11:61780991-61780991
2 MYRF NM_001127392.3(MYRF): c.1254_1255dup (p.Thr419fs) duplication Pathogenic 11:61541577-61541578 11:61774105-61774106
3 MYRF NM_001127392.3(MYRF): c.1303G> A (p.Gly435Arg) single nucleotide variant Pathogenic 11:61541626-61541626 11:61774154-61774154
4 MYRF NM_001127392.3(MYRF): c.2084G> A (p.Arg695His) single nucleotide variant Pathogenic 11:61546805-61546805 11:61779333-61779333
5 MYRF NM_001127392.3(MYRF): c.350_366delinsT (p.Gly117fs) indel Pathogenic 11:61533645-61533661 11:61766173-61766189
6 MYRF NM_001127392.3(MYRF): c.3118A> G (p.Arg1040Gly) single nucleotide variant Pathogenic 11:61551071-61551071 11:61783599-61783599
7 MYRF NM_001127392.3(MYRF): c.3239dup (p.Glu1081fs) duplication Pathogenic 11:61551796-61551796 11:61784324-61784324
8 MYRF NM_001127392.3(MYRF): c.2336+1G> A single nucleotide variant Uncertain significance rs1057518279 11:61547403-61547403 11:61779931-61779931

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

74
# Symbol AA change Variation ID SNP ID
1 MYRF p.Gly435Arg VAR_081884

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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