CUGS
MCID: CRD245
MIFTS: 36

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 56 73 29 6 17
Cugs 56 73
Urogenital Abnormalities 43

Characteristics:

OMIM:

56
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

OMIM : 56 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 Hydrocortisone and Hydrocortisone acetate 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 : 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 115)
# 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 myotonic dystrophy 1 10.6
13 neuromuscular disease 10.5
14 muscular dystrophy 10.4
15 ataxia and polyneuropathy, adult-onset 10.3
16 huntington disease 10.3
17 autosomal dominant cerebellar ataxia 10.3
18 muscular atrophy 10.3
19 myotonia 10.3
20 myopathy 10.2
21 rapidly involuting congenital hemangioma 10.2
22 amyotrophic lateral sclerosis 1 10.1
23 small cell cancer of the lung 10.1
24 lung cancer 10.1
25 hydronephrosis 10.1
26 lateral sclerosis 10.1
27 pagod syndrome 10.1
28 meacham syndrome 10.1
29 cryptorchidism, unilateral or bilateral 10.0
30 candidiasis, familial, 1 10.0
31 cardiac conduction defect 10.0
32 paramyotonia congenita of von eulenburg 10.0
33 parkinson disease, late-onset 10.0
34 triiodothyronine receptor auxiliary protein 10.0
35 wilms tumor 1 10.0
36 fragile x tremor/ataxia syndrome 10.0
37 fragile x syndrome 10.0
38 frontotemporal dementia 10.0
39 wilms tumor 5 10.0
40 myotonic dystrophy 2 10.0
41 huntington disease-like 2 10.0
42 amyotrophic lateral sclerosis 3 10.0
43 spinocerebellar ataxia 8 10.0
44 lung cancer susceptibility 3 10.0
45 spinocerebellar ataxia 36 10.0
46 helix syndrome 10.0
47 t-cell lymphoma, subcutaneous panniculitis-like 10.0
48 fragile x-associated tremor/ataxia syndrome 10.0
49 lymphoma 10.0
50 spinal muscular atrophy 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:

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 bronchomalacia 31 HP:0002780
18 patent urachus 31 HP:0010479
19 scimitar anomaly 31 HP:0011626
20 dysplastic tricuspid valve 31 HP:0030732
21 hepatopulmonary fusion 31 HP:0410259

Symptoms via clinical synopsis from OMIM:

56
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

Drugs & Therapeutics for Cardiac-Urogenital Syndrome

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 1 50-23-7 5754
2
Hydrocortisone acetate Approved, Vet_approved Phase 1 50-03-3
3 Hormone Antagonists Phase 1
4 Hormones Phase 1
5 Hydrocortisone 17-butyrate 21-propionate Phase 1
6 glucocorticoids Phase 1
7 Hydrocortisone-17-butyrate Phase 1
8 Hydrocortisone hemisuccinate Phase 1
9 Anti-Inflammatory Agents Phase 1
10
Caffeine Approved 58-08-2 2519
11
Formaldehyde Approved, Vet_approved 50-00-0 712
12 Coconut Approved Early Phase 1
13
Calcium polycarbophil Approved Early Phase 1 126040-58-2
14 Pharmaceutical Solutions
15 Androgens
16 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 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
3 Biomechanical Assessment of Level Gait in Patient's Status Post Bladder Exstrophy Completed NCT00863070
4 WAGR Syndrome and Other 11p Contiguous Gene Deletions: Clinical Characterization and Correlation With Genotype Completed NCT00758108
5 Integrated Community Case Management of Common Childhood Diseases: Mozambique and Uganda Completed NCT01972321
6 Using Anogenital Distance to Determinate Fetal Gender Beetween 18 et 41 Weeks of Gestation. Recruiting NCT03898440
7 Long Term Assessment and Outcome of Adult Patients With Congenital Genitourinary Abnormalities. Recruiting NCT03061084
8 Distribution of Smooth Muscle In Dartos In The Non Conspicuous Penis, an Observational a Prospective, Descriptive, Observational Study Recruiting NCT03295175
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, Thyroid, Uterus, Heart, Smooth Muscle, Breast, Ovary

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. 56 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. (). 6 56
30070761 2018
3
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. 6 56
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 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYRF NM_001127392.3(MYRF):c.2518C>T (p.Arg840Ter)SNV Pathogenic 599372 rs1565304230 11:61548463-61548463 11:61780991-61780991
2 MYRF NM_001127392.3(MYRF):c.1254_1255dup (p.Thr419fs)duplication Pathogenic 599373 rs1565295395 11:61541575-61541576 11:61774103-61774104
3 MYRF NM_001127392.3(MYRF):c.1303G>A (p.Gly435Arg)SNV Pathogenic 619228 rs1565295550 11:61541626-61541626 11:61774154-61774154
4 MYRF NM_001127392.3(MYRF):c.2084G>A (p.Arg695His)SNV Pathogenic 619229 rs1382225004 11:61546805-61546805 11:61779333-61779333
5 MYRF NM_001127392.3(MYRF):c.350_366delinsT (p.Gly117fs)indel Pathogenic 635276 rs1565286228 11:61533645-61533661 11:61766173-61766189
6 MYRF NM_001127392.3(MYRF):c.3118A>G (p.Arg1040Gly)SNV Pathogenic 635274 rs1565307564 11:61551071-61551071 11:61783599-61783599
7 MYRF NM_001127392.3(MYRF):c.3239dup (p.Glu1081fs)duplication Pathogenic 635275 rs1565308384 11:61551793-61551794 11:61784321-61784322
8 MYRF NM_001127392.3(MYRF):c.3367G>A (p.Ala1123Thr)SNV Uncertain significance 802678 11:61553338-61553338 11:61785866-61785866
9 MYRF NM_001127392.3(MYRF):c.2336+1G>ASNV Uncertain significance 373200 rs1057518279 11:61547403-61547403 11:61779931-61779931

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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