CUGS
MCID: CRD245
MIFTS: 18

Cardiac-Urogenital Syndrome (CUGS)

Categories: Genetic diseases

Aliases & Classifications for Cardiac-Urogenital Syndrome

MalaCards integrated aliases for Cardiac-Urogenital Syndrome:

Name: Cardiac-Urogenital Syndrome 58 6
Cugs 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
cardiac defects noted on prenatal ultrasound


Classifications:



External Ids:

OMIM 58 618280

Summaries for Cardiac-Urogenital Syndrome

OMIM : 58 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 myotonic dystrophy and myotonia atrophica. An important gene associated with Cardiac-Urogenital Syndrome is MYRF (Myelin Regulatory Factor). Affiliated tissues include spleen, thyroid and heart.

Related Diseases for Cardiac-Urogenital Syndrome

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 myotonic dystrophy 10.7
2 myotonia atrophica 10.7
3 myotonic dystrophy 1 10.3
4 bowenoid papulosis 10.3
5 lung cancer 10.2
6 hydronephrosis 10.1
7 neurofibromatosis, type i 10.0
8 neurofibromatosis, type iv, of riccardi 10.0
9 small cell cancer of the lung 10.0
10 hepatitis 10.0
11 autosomal dominant cerebellar ataxia 10.0
12 myopathy 10.0
13 hepatitis e 10.0
14 myotonia 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

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
patent ductus arteriosus
atrial septal defect
hypoplastic left heart
tetralogy of fallot
ventricular septal defect
more
Abdomen Gastrointestinal:
intestinal malrotation
meckel band

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

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

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

Head And Neck Neck:
thymic involution

Abdomen Liver:
hepatopulmonary fusion
hepatotesticular fusion

Endocrine Features:
interstitial fibrosis of thyroid gland

Genitourinary Internal Genitalia Male:
cryptorchidism
hepatotesticular fusion
splenotesticular fusion

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

Respiratory Lung:
pulmonary hypoplasia
hepatopulmonary fusion

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

Chest Diaphragm:
left diaphragmatic hernia
right diaphragmatic hernia

Clinical features from OMIM:

618280

Drugs & Therapeutics for Cardiac-Urogenital Syndrome

Search Clinical Trials , NIH Clinical Center for Cardiac-Urogenital Syndrome

Genetic Tests for Cardiac-Urogenital Syndrome

Anatomical Context for Cardiac-Urogenital Syndrome

MalaCards organs/tissues related to Cardiac-Urogenital Syndrome:

42
Spleen, Thyroid, Heart, Ovary, Uterus, Trachea

Publications for Cardiac-Urogenital Syndrome

Variations for Cardiac-Urogenital Syndrome

ClinVar genetic disease variations for Cardiac-Urogenital Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYRF NM_013279.3(MYRF): c.2309+1G> A single nucleotide variant Uncertain significance rs1057518279 GRCh37 Chromosome 11, 61547403: 61547403
2 MYRF NM_013279.3(MYRF): c.2309+1G> A single nucleotide variant Uncertain significance rs1057518279 GRCh38 Chromosome 11, 61779931: 61779931
3 MYRF NM_001127392.2(MYRF): c.2518C> T (p.Arg840Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 61780991: 61780991
4 MYRF NM_001127392.2(MYRF): c.2518C> T (p.Arg840Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 61548463: 61548463
5 MYRF NM_001127392.2(MYRF): c.1254_1255dup (p.Thr419Argfs) duplication Pathogenic GRCh38 Chromosome 11, 61774105: 61774106
6 MYRF NM_001127392.2(MYRF): c.1254_1255dup (p.Thr419Argfs) duplication Pathogenic GRCh37 Chromosome 11, 61541577: 61541578
7 MYRF NM_001127392.2(MYRF): c.1303G> A (p.Gly435Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 61541626: 61541626
8 MYRF NM_001127392.2(MYRF): c.1303G> A (p.Gly435Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 61774154: 61774154
9 MYRF NM_001127392.2(MYRF): c.2084G> A (p.Arg695His) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 61546805: 61546805
10 MYRF NM_001127392.2(MYRF): c.2084G> A (p.Arg695His) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 61779333: 61779333

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
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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