CMDHH
MCID: CRD229
MIFTS: 39

Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism (CMDHH)

Categories: Endocrine diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

MalaCards integrated aliases for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism:

Name: Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 58 76
Malouf Syndrome 58 77 54 60 76 13 74
Najjar Syndrome 58 54 60 76 56 74
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome 54 60 30 6
Cardiogenital Syndrome 58 54 60 76
Genital Anomaly with Cardiomyopathy 58 54 76
Cardiomyopathy with Primary Testicular Failure 58 76
Cardiomyopathy, Congestive, with Hypergonadotropic Hypogonadism 58
Cardiomyopathy Congestive with Hypergonadotropic Hypogonadism 76
Dilated Cardiomyopathy with Hypergonadotropic Hypogonadism 54
Cardiomyopathy, Dilated, with Premature Ovarian Failure 58
Cardiomyopathy Dilated with Premature Ovarian Failure 76
Cmdhh 76

Characteristics:

Orphanet epidemiological data:

60
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cardiomyopathy, dilated, with hypergonadotropic hypogonadism:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

NIH Rare Diseases : 54 Dilated cardiomyopathy with hypergonadotropic hypogonadism (DCMHH) is a condition that primarily affects the heart and gonads (male testes or female ovaries). It is characterized by a disease of the heart muscle (dilated cardiomyopathy) and little or no production of sex hormones due to a problem with the pituitary gland or hypothalamus (hypergonadotropic hypogonadism). Other symptoms might include: characteristic facial features, intellectual disability, mild skeletal anomalies, and abnormalities of the metabolic system. Some cases of DCMHH are caused by mutations in the LMNA gene. Both autosomal dominant and autosomal recessive inheritance patterns have been described. Although there is no specific treatment or cure for DCMHH, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.

MalaCards based summary : Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism, also known as malouf syndrome, is related to crigler-najjar syndrome, type i and crigler-najjar syndrome, type ii. An important gene associated with Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism is LMNA (Lamin A/C). The drugs carbamide peroxide and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and ovary, and related phenotypes are ptosis and precocious puberty

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, dilated, with hypergonadotropic hypogonadism: A disorder characterized by the association of genital anomalies, hypergonadotropic hypogonadism and dilated cardiomyopathy. Patients can present other variable clinical manifestations including mental retardation, skeletal anomalies, scleroderma-like skin, graying and thinning of hair, osteoporosis. Dilated cardiomyopathy is characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia.

Wikipedia : 77 Malouf syndrome (also known as "congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome") is a... more...

Description from OMIM: 212112

Related Diseases for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Diseases related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 crigler-najjar syndrome, type i 12.9
2 crigler-najjar syndrome, type ii 12.8
3 seow najjar syndrome 12.1
4 gilbert syndrome 11.8
5 hutchinson-gilford progeria syndrome 11.4
6 kernicterus 10.3
7 dilated cardiomyopathy 10.2
8 46 xx gonadal dysgenesis 10.2
9 cholestasis 10.1
10 bilirubin metabolic disorder 10.1
11 hypogonadism 10.1
12 frasier syndrome 9.9
13 hemophilia a 9.9
14 ichthyosis, x-linked 9.9
15 beta-thalassemia 9.9
16 hepatitis 9.9
17 liver cirrhosis 9.9
18 thalassemia 9.9
19 hereditary spherocytosis 9.9
20 acute cholangitis 9.9
21 ichthyosis 9.9
22 neonatal jaundice 9.9
23 influenza 9.9
24 cholangitis 9.9
25 hemophilia 9.9
26 congenital nonhemolytic jaundice 9.9
27 encephalopathy 9.9

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism:



Diseases related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Symptoms & Phenotypes for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Human phenotypes related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 60 33 occasional (7.5%) Very frequent (99-80%) HP:0000508
2 precocious puberty 60 33 hallmark (90%) Very frequent (99-80%) HP:0000826
3 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
4 dilated cardiomyopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001644
5 hypergonadotropic hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000815
6 polycystic ovaries 60 33 hallmark (90%) Very frequent (99-80%) HP:0000147
7 aplasia of the phalanges of the 3rd toe 60 33 hallmark (90%) Very frequent (99-80%) HP:0100362
8 intellectual disability 33 occasional (7.5%) HP:0001249
9 retrognathia 33 HP:0000278
10 lipodystrophy 33 HP:0009125
11 mitral regurgitation 33 HP:0001653
12 down-sloping shoulders 33 HP:0200021
13 short clavicles 33 HP:0000894

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
retrognathia

Endocrine Features:
hypergonadotropic hypogonadism

Chest External Features:
sloping shoulders

Head And Neck Eyes:
ptosis, bilateral (in some patients)

Cardiovascular Heart:
cardiomyopathy, dilated
mitral valve insufficiency
tricuspid valve insufficiency

Genitourinary Internal Genitalia Female:
ovarian failure, premature
ovarian dysgenesis

Skeletal Hands:
acrogeric appearance (prominent veins and lack of subcutaneous tissue)

Laboratory Abnormalities:
elevated serum levels of follicle stimulating hormone (fsh)
elevated serum levels of luteinizing hormone (lh)

Muscle Soft Tissue:
lipodystrophy

Neurologic Central Nervous System:
mental retardation (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
clavicular hypoplasia

Head And Neck Nose:
narrow, beaked nose

Genitourinary Internal Genitalia Male:
testicular failure

Skeletal:
osteopenia/osteoporosis

Skeletal Feet:
acrogeric appearance (prominent veins and lack of subcutaneous tissue)

Clinical features from OMIM:

212112

GenomeRNAi Phenotypes related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.26 LMNA
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.26 LMNA UGT1A1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.26 LMNA
4 Increased gamma-H2AX phosphorylation GR00053-A 8.62 LMNA UGT1A1

Drugs & Therapeutics for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Drugs for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved Phase 1, Phase 2 124-43-6
2 Liver Extracts Phase 1, Phase 2
3
Ornithine Approved, Nutraceutical Phase 1 3184-13-2, 70-26-8 6262
4
Acetylcholine Approved, Investigational Not Applicable 51-84-3 187
5
Orlistat Approved, Investigational Not Applicable 96829-58-2 3034010
6 Botulinum Toxins, Type A Not Applicable
7 Neurotransmitter Agents Not Applicable
8 Acetylcholine Release Inhibitors Not Applicable
9 Cholinergic Agents Not Applicable
10 Peripheral Nervous System Agents Not Applicable
11 abobotulinumtoxinA Not Applicable
12 Botulinum Toxins Not Applicable
13 Neuromuscular Agents Not Applicable
14 Anti-Obesity Agents Not Applicable
15 Lipid Regulating Agents Not Applicable
16
Bilirubin Not Applicable 635-65-4, 69853-43-6 5280352 21252250

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Safety Study of HepaStem for the Treatment of Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN) Completed NCT01765283 Phase 1, Phase 2
2 Gene Therapy for Severe Crigler Najjar Syndrome Recruiting NCT03466463 Phase 1, Phase 2
3 Gene Transfer Clinical Study in Crigler-Najjar Syndrome Recruiting NCT03223194 Phase 1, Phase 2
4 Hepatocyte Transplantation for Liver Based Metabolic Disorders Suspended NCT01345578 Phase 1 human hepatocyte transplantation
5 Long-term Safety Follow-up Study of Patients Having Received HepaStem (SAF001) Unknown status NCT02051049
6 New Phototherapy Device to Treat Patients With Crigler-Najjar Disease Unknown status NCT02356978 Not Applicable
7 Comparison of Biofeedback vs. Botox Injection to Treat Levator Ani Syndrome Unknown status NCT00564707 Not Applicable
8 Clinical Assessment Study in Crigler-Najjar Syndrome Completed NCT03078881
9 Immunity Against AAV in Crigler Najjar Patient Completed NCT02302690
10 Orlistat Treatment of Crigler-Najjar Disease Completed NCT00461799 Not Applicable orlistat
11 HepaStem Long-Term Safety Registry Not yet recruiting NCT03343756

Search NIH Clinical Center for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Genetic Tests for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Genetic tests related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome 30 LMNA

Anatomical Context for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

MalaCards organs/tissues related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism:

42
Heart, Testes, Ovary, Skin, Bone, Pituitary, Hypothalamus

Publications for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Articles related to Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism:

# Title Authors Year
1
Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy: two-case report and literature review. ( 25544917 )
2014
2
Dilated cardiomyopathy and ovarian dysgenesis in a patient with Malouf syndrome: a case report. ( 24008991 )
2013
3
Case of ovarian dysgenesis and dilated cardiomyopathy supports existence of Malouf syndrome. ( 1488988 )
1992

Variations for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism:

76
# Symbol AA change Variation ID SNP ID
1 LMNA p.Ala57Pro VAR_017656 rs28928903
2 LMNA p.Leu59Arg VAR_064055 rs58922911

ClinVar genetic disease variations for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.169G> C (p.Ala57Pro) single nucleotide variant Pathogenic rs28928903 GRCh37 Chromosome 1, 156084878: 156084878
2 LMNA NM_170707.3(LMNA): c.169G> C (p.Ala57Pro) single nucleotide variant Pathogenic rs28928903 GRCh38 Chromosome 1, 156115087: 156115087
3 LMNA NM_170707.3(LMNA): c.176T> G (p.Leu59Arg) single nucleotide variant Pathogenic rs58922911 GRCh37 Chromosome 1, 156084885: 156084885
4 LMNA NM_170707.3(LMNA): c.176T> G (p.Leu59Arg) single nucleotide variant Pathogenic rs58922911 GRCh38 Chromosome 1, 156115094: 156115094
5 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
6 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
7 LMNA NM_170707.3(LMNA): c.1487C> T (p.Thr496Met) single nucleotide variant Uncertain significance rs200466188 GRCh37 Chromosome 1, 156106818: 156106818
8 LMNA NM_170707.3(LMNA): c.1487C> T (p.Thr496Met) single nucleotide variant Uncertain significance rs200466188 GRCh38 Chromosome 1, 156137027: 156137027

Expression for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism.

Pathways for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

GO Terms for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

Sources for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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