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 57 75
Malouf Syndrome 57 76 53 59 75 13 73
Najjar Syndrome 57 53 59 75 55 73
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome 53 59 29 6
Cardiogenital Syndrome 57 53 59 75
Genital Anomaly with Cardiomyopathy 57 53 75
Cardiomyopathy with Primary Testicular Failure 57 75
Cardiomyopathy, Congestive, with Hypergonadotropic Hypogonadism 57
Cardiomyopathy Congestive with Hypergonadotropic Hypogonadism 75
Dilated Cardiomyopathy with Hypergonadotropic Hypogonadism 53
Cardiomyopathy, Dilated, with Premature Ovarian Failure 57
Cardiomyopathy Dilated with Premature Ovarian Failure 75
Cmdhh 75

Characteristics:

Orphanet epidemiological data:

59
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cardiomyopathy, dilated, with hypergonadotropic hypogonadism:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

NIH Rare Diseases : 53 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). Affiliated tissues include heart, testes and ovary, and related phenotypes are ptosis and precocious puberty

UniProtKB/Swiss-Prot : 75 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 : 76 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 bilirubin metabolic disorder 10.2
8 dilated cardiomyopathy 10.2
9 cholestasis 10.1
10 hypogonadism 10.0
11 frasier syndrome 9.9
12 hemophilia a 9.9
13 ichthyosis, x-linked 9.9
14 beta-thalassemia 9.9
15 hepatitis 9.9
16 liver cirrhosis 9.9
17 thalassemia 9.9
18 hereditary spherocytosis 9.9
19 acute cholangitis 9.9
20 ichthyosis 9.9
21 neonatal jaundice 9.9
22 influenza 9.9
23 viral infectious disease 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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 occasional (7.5%) Very frequent (99-80%) HP:0000508
2 precocious puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0000826
3 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
4 dilated cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001644
5 hypergonadotropic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000815
6 polycystic ovaries 59 32 hallmark (90%) Very frequent (99-80%) HP:0000147
7 aplasia of the phalanges of the 3rd toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0100362
8 intellectual disability 32 occasional (7.5%) HP:0001249
9 retrognathia 32 HP:0000278
10 lipodystrophy 32 HP:0009125
11 mitral regurgitation 32 HP:0001653
12 down-sloping shoulders 32 HP:0200021
13 short clavicles 32 HP:0000894

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

26
# 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

Search Clinical Trials , 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 29 LMNA

Anatomical Context for Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism

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

41
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:

75
# 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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17 ExPASy
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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