CUGS
MCID: CRD245
MIFTS: 38

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 58 76 6
Cugs 58 76
Urogenital Abnormalities 45

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
cardiac defects noted on prenatal ultrasound


Classifications:



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 schimmelpenning-feuerstein-mims syndrome and fraser syndrome 1. An important gene associated with Cardiac-Urogenital Syndrome is MYRF (Myelin Regulatory Factor). The drugs Menotropins and Ethinyl Estradiol have been mentioned in the context of this disorder. Affiliated tissues include ovary, spleen and thyroid, and related phenotypes are patent ductus arteriosus and cryptorchidism

UniProtKB/Swiss-Prot : 76 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 all 47)
# Related Disease Score Top Affiliating Genes
1 schimmelpenning-feuerstein-mims syndrome 10.9
2 fraser syndrome 1 10.9
3 dk phocomelia syndrome 10.9
4 rudiger syndrome 10.9
5 tonne-kalscheuer syndrome 10.9
6 alpha-thalassemia/mental retardation syndrome, x-linked 10.9
7 hypotonia, ataxia, and delayed development syndrome 10.9
8 fraser syndrome 2 10.9
9 fraser syndrome 3 10.9
10 myotonic dystrophy 10.8
11 myotonia atrophica 10.7
12 bowenoid papulosis 10.4
13 myotonic dystrophy 1 10.3
14 lung cancer 10.2
15 hydronephrosis 10.1
16 neurofibromatosis, type i 10.0
17 neurofibromatosis, type iv, of riccardi 10.0
18 parkinson disease, late-onset 10.0
19 small cell cancer of the lung 10.0
20 spinocerebellar ataxia 8 10.0
21 helix syndrome 10.0
22 hepatitis 10.0
23 muscle disorders 10.0
24 autosomal dominant cerebellar ataxia 10.0
25 myopathy 10.0
26 hepatitis e 10.0
27 myotonia 10.0
28 growth hormone deficiency 9.9
29 duane retraction syndrome 1 9.8
30 silver-russell syndrome 9.8
31 denys-drash syndrome 9.8
32 polydactyly 9.8
33 craniosynostosis 9.8
34 thrombocytopenia 9.8
35 congenital hypothyroidism 9.8
36 thrombosis 9.8
37 split hand-foot malformation 9.8
38 alpha thalassemia-x-linked intellectual disability syndrome 9.8
39 oligohydramnios 9.8
40 hypothyroidism 9.8
41 infertility 9.8
42 cleft lip 9.8
43 47, xxy 9.8
44 encephalocele 9.8
45 phocomelia 9.8
46 rectal duplication 9.8
47 cleft lip/palate 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:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 patent ductus arteriosus 33 HP:0001643
2 cryptorchidism 33 HP:0000028
3 ventricular septal defect 33 HP:0001629
4 intestinal malrotation 33 HP:0002566
5 ambiguous genitalia 33 HP:0000062
6 bifid scrotum 33 HP:0000048
7 micropenis 33 HP:0000054
8 pulmonary hypoplasia 33 HP:0002089
9 bronchomalacia 33 HP:0002780
10 dysplastic tricuspid valve 33 HP:0030732
11 hepatopulmonary fusion 33 HP:0410259

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

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

(show top 50) (show all 325)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menotropins Approved Phase 4 9002-68-0, 61489-71-2 5360545
2
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Not Applicable 57-63-6 5991
3
Cyproterone Acetate Approved, Investigational Phase 4,Not Applicable 427-51-0
4
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-28-2 5757
5
Drospirenone Approved Phase 4,Not Applicable 67392-87-4 68873
6
Polyestradiol phosphate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 28014-46-2
7
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 175805 71273
8
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 50-02-2 5743
9
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 1177-87-3
10
Progesterone Approved, Vet_approved Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1 57-83-0 5994
11
Hydrocortisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 50-23-7 5754
12
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3 53-03-2 5865
13
Hydrocortisone acetate Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 50-03-3
14
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 51-43-4 5816
15
Racepinephrine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 329-65-7 838
16
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 113775-47-6 5311068 68602
17
Zinc Approved, Investigational Phase 4,Phase 2,Not Applicable 7440-66-6 32051
18
Propofol Approved, Investigational, Vet_approved Phase 4,Not Applicable 2078-54-8 4943
19
leucovorin Approved Phase 4,Not Applicable 58-05-9 143 6006
20
Metformin Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 657-24-9 14219 4091
21
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 38396-39-3, 2180-92-9 2474
22
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Not Applicable 302-25-0
23
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Not Applicable 2921-57-5
24
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Not Applicable 50-24-8 5755
25
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Not Applicable 83-43-2 6741
26
Testosterone undecanoate Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 5949-44-0
27
Testosterone enanthate Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 315-37-7 9416
28
Methyltestosterone Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-18-4 6010
29
Testosterone Approved, Experimental, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-22-0, 481-30-1 10204 6013
30
Acetaminophen Approved Phase 4,Not Applicable 103-90-2 1983
31
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1 7440-70-2 271
32
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Not Applicable 59-30-3 6037
33
Cortisone Experimental Phase 4,Phase 2 53-06-5 222786
34
Prednisolone hemisuccinate Experimental Phase 4,Phase 3,Not Applicable 2920-86-7
35 Fertility Agents Phase 4,Phase 3,Phase 2,Early Phase 1
36 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
37 Chorionic Gonadotropin Phase 4,Not Applicable,Early Phase 1
38 Follicle Stimulating Hormone Phase 4,Phase 2,Not Applicable
39 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
40 Drospirenone and ethinyl estradiol combination Phase 4,Not Applicable
41 Cyproterone acetate, ethinyl estradiol drug combination Phase 4
42 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
43 Contraceptive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
44 Contraceptive Agents, Male Phase 4,Phase 3,Not Applicable
45 Contraceptives, Oral, Combined Phase 4,Phase 3,Phase 2,Not Applicable
46
Cyproterone Phase 4,Not Applicable 2098-66-0 5284537
47 Diuretics, Potassium Sparing Phase 4,Not Applicable,Early Phase 1
48 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 Natriuretic Agents Phase 4,Early Phase 1,Not Applicable
50 Hemostatics Phase 4,Not Applicable

Interventional clinical trials:

(show top 50) (show all 368)
# Name Status NCT ID Phase Drugs
1 Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic Hypogonadism Unknown status NCT02880280 Phase 4 Human Menopausal Gonadotropin;Human Chorionic Gonadotropin
2 Hemocoagulation and Lipoperoxidation in Women Using Combined Oral Contraceptives, Correction by Antioxidants Unknown status NCT02027337 Phase 4 20 mcg ethinylestradiol /3 mg drospirenone;20 mcg ethinylestradiol/3 mg drospirenone and Selmevit;30 mcg ethinylestradiol/3 mg drospirenone;30 mcg ethinylestradiol/3 mg drospirenone and Selmevit;35 mcg ethinylestradiol/2 mg cyproterone;35 mcg ethinylestradiol/2 mg cyproterone and Selmevit
3 Ethinyl Estradiol and Cyproterone Acetate in Irregular Menstruation Unknown status NCT01103518 Phase 4 Ethinyl Estradiol + Cyproterone acetate
4 Pudendal Block Versus Caudal Block for Hypospadias Completed NCT02390388 Phase 4
5 Effects of Dexmedetomidine as Adjunct to Pudendal Block for Pediatric Penile Surgery Completed NCT02848157 Phase 4 Dexmedetomidine;plain ropivacaine;Ropivacaine
6 Effect of Intravenous Dexamethasone With Pudendal Nerve Block on Postoperative Pain in Pediatric Hypospadias Repair Completed NCT03902249 Phase 4 Dexamethasone
7 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4 somatropin;somatropin
8 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4 somatropin;somatropin;somatropin;oestrogen
9 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Completed NCT03015909 Phase 4 Somatropin
10 Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years Completed NCT01066052 Phase 4 r-hGH
11 Sequential Therapy for Hypogonadotropic Hypogonadism Completed NCT01403532 Phase 4 Traditional intervention for HH using HCG and FSH;Sequential intervention for HH using HCG and FSH;Sequential intervention for HH using HCG and FSH plus zinc
12 The Effect of Induction Technique on Postoperative Pain and Agitation Completed NCT02110745 Phase 4 Sevofluorane;Propofol
13 First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study Completed NCT01419249 Phase 4
14 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
15 Low Dose OC Therapy in Women With Polycystic Ovary Syndrome (PCOS): Impact of BMI on Hyperandrogenism Completed NCT01360996 Phase 4 3 mg DRSP/20 μg EE
16 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4 estradiol
17 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
18 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
19 Effects of Metformin vs Oral Contraceptives on CV Risk Markers in PCOS Completed NCT00428311 Phase 4 Metformin;Ethynyl-estradiol plus cyproterone acetate
20 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
21 Effect of Intravenous Paracetamol in Combination With Caudal Ropivacaine on Quality of Postoperative Recovery in Paediatric Patients Undergoing Hypospadias Repair Recruiting NCT03781505 Phase 4 Paracetamol +caudal ropivacaine
22 Does Caudal Block Increase the Incidence of Urethrocutaneous Fistula Formation Following Hypospadias Repair in Infants? Recruiting NCT02861950 Phase 4 Caudal block with ropivacaine;penile nerve block with bupivacaine
23 Congenital Adrenal Hyperplasia Once Daily Hydrocortisone Treatment Recruiting NCT03760835 Phase 4 Conventional Glucocorticoids (immediate release hydrocortisone, cortisone acetate, prednisone, prednisolone, dexamethasone);Dual release hydrocortisone (plenadren)
24 TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY Recruiting NCT03325647 Phase 4 Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution;Placebo injectable saline
25 Ovarian Response to Recombinant Follicle Stimulating Hormone in Women With PCOS Recruiting NCT03252223 Phase 4 Recombinant Follicle Stimulating Hormone
26 Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Active, not recruiting NCT02408445 Phase 4 testosterone cypionate 200mg/ml
27 Efficacy and Safety of Long Term Use of hCG or hCG Plus hMG in Males With Isolated Hypogonadotropic Hypogonadism (IHH) Not yet recruiting NCT03687606 Phase 4 Human Chorionic Gonadotropin;human menopausal gonadotropin
28 COrticosteroid in Congenital Adrenal Hyperplasia Unknown status NCT02552251 Phase 2, Phase 3
29 Effectiveness of Caudal Epidural Block on Intraoperative Blood Loss During Hypospadias Repair Completed NCT02752308 Phase 2, Phase 3 Bupivacaine;Dilute epinephrine injection;Fentanyl;dextrose plus sodium chloride.;neostigmine and atropine
30 Dexmedetomidine Infusion in Hypospadias Surgery Completed NCT00926705 Phase 3 Dexmedetomidine and Fentanyl;Fentanyl
31 Local Oestrogen Versus Placebo as Preoperative Treatment in Patients With Severe Hypospadias: Effects on Post-operative Complications Completed NCT01370798 Phase 3 promestriene;Placebo
32 Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia Completed NCT02716818 Phase 3 Chronocort®;standard glucocorticoid therapy
33 An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG Completed NCT00250250 Phase 3 ZOMACTON
34 A Clinical Study to Assess the Efficacy and Safety of DA-3002 Completed NCT01813630 Phase 3 DA-3002;Genotropin®
35 Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome Completed NCT01710696 Phase 3 17-beta estradiol;17-beta estradiol
36 Use of Somatropin in Turner Syndrome Completed NCT01518036 Phase 3 somatropin;somatropin
37 Effect of a Commonly Used Antibiotic, Doxycycline, in Women With Polycystic Ovarian Syndrome Completed NCT01788215 Phase 3 doxycycline
38 The Effect of Growth Hormone in Very Young Girls With Turner Syndrome Completed NCT00406926 Phase 3 Somatropin
39 Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT01563926 Phase 3 somatropin
40 Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq Completed NCT00234533 Phase 3 Somatropin (rDNA origin)
41 Somatropin Treatment to Final Height in Turner Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
42 Androgen for Leydig Cell Proliferation Completed NCT01206270 Phase 2, Phase 3 Testosterone undecanoate;Castor Oil
43 The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome Completed NCT00029159 Phase 3 estrogen;androgen
44 The Effect of Metformin Added to Clomiphene Citrate on Pregnancy Rates in Hyperandrogenic, Chronic Oligoovulatory or Anovulatory Women Completed NCT00413179 Phase 3 Metformin;Clomiphene citrate;Placebo
45 Estrogen Treatment (Oral vs. Patches) in Turner Syndrome Completed NCT00140998 Phase 3 17 beta estradiol
46 An Extended Access Program for Bardoxolone Methyl in Patients With CKD (EAGLE) Recruiting NCT03749447 Phase 3 Bardoxolone methyl
47 Uterus Transplantation From Live Donors and From Deceased Donors - Clinical Study Recruiting NCT03277430 Phase 3 Tacrolimus
48 Primary Ovarian Insufficiency: Phenotype and Optimal Treatment Recruiting NCT03568708 Phase 3 Transdermal Estrogen
49 A Study of the Efficacy, Safety and Tolerability of Chronocort in Treating CAH Active, not recruiting NCT03062280 Phase 3 Hydrocortisone
50 A Phase 2/3 Trial of the Efficacy and Safety of Bardoxolone Methyl in Patients With Alport Syndrome - CARDINAL Active, not recruiting NCT03019185 Phase 2, Phase 3 Placebo Oral Capsule;Bardoxolone Methyl

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:

42
Ovary, Spleen, Thyroid, Kidney, Bone, Brain, Testis

Publications for Cardiac-Urogenital Syndrome

Articles related to Cardiac-Urogenital Syndrome:

(show all 16)
# Title Authors Year
1
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. ( 30532227 )
2018
2
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. ( 29446546 )
2018
3
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. (). ( 30070761 )
2018
4
Congenital urogenital abnormalities in children with congenital hypothyroidism. ( 28638814 )
2017
5
Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation. ( 27351625 )
2016
6
A rare case of Silver-Russell syndrome associated with growth hormone deficiency and urogenital abnormalities. ( 23565409 )
2012
7
Prenatal diagnosis of an atypical 1q21.1 microdeletion and duplication associated with foetal urogenital abnormalities. ( 22820078 )
2012
8
Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities. ( 16650085 )
2006
9
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome. ( 16813605 )
2006
10
A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome. ( 10077614 )
1999
11
Infertility and multiple urogenital abnormalities in a male with mosaic 46,XY/45,XO/47,XXY karyotype and mixed phenotype. ( 9873251 )
1998
12
Unusual association of congenital malformations: craniosynostosis, heart defect, abnormal intestinal innervation and urogenital abnormalities. ( 9546831 )
1998
13
Prenatal diagnosis of fetal urogenital abnormalities with oligohydramnios by magnetic resonance imaging using turbo spin echo technique. ( 9595370 )
1998
14
Chromosome 22 marker in a child with Duane syndrome and urogenital abnormalities. ( 8839890 )
1996
15
Ocular findings in a new heritable syndrome of brain, eye, and urogenital abnormalities. ( 3917610 )
1985
16
Syndrome of multiple congenital malformations including phocomelia, thrombocytopenia, encephalocele, and urogenital abnormalities. ( 6106133 )
1980

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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