CMD1GG
MCID: CRD082
MIFTS: 37

Cardiomyopathy, Dilated, 1gg (CMD1GG)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1gg

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1gg:

Name: Cardiomyopathy, Dilated, 1gg 56 13 71
Dilated Cardiomyopathy 1gg 12 29 6 15
Cmd1gg 56 12 73
Cardiomyopathy, Dilated, Type 1gg 39
Cardiomyopathy, Dilated 1gg 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset 32 weeks gestation to 8 months


HPO:

31
cardiomyopathy, dilated, 1gg:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110435
OMIM 56 613642
OMIM Phenotypic Series 56 PS115200
MeSH 43 D002311
ICD10 32 I42.0
MedGen 41 C3150898
SNOMED-CT via HPO 68 195021004 258211005 399020009
UMLS 71 C3150898

Summaries for Cardiomyopathy, Dilated, 1gg

UniProtKB/Swiss-Prot : 73 Cardiomyopathy, dilated 1GG: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

MalaCards based summary : Cardiomyopathy, Dilated, 1gg, also known as dilated cardiomyopathy 1gg, is related to leigh syndrome with leukodystrophy and hereditary renal cell carcinoma. An important gene associated with Cardiomyopathy, Dilated, 1gg is SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include heart, and related phenotype is dilated cardiomyopathy.

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the SDHA gene on chromosome 5p15.33.

More information from OMIM: 613642 PS115200

Related Diseases for Cardiomyopathy, Dilated, 1gg

Diseases in the Rare Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Dilated Cardiomyopathy
Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines

Diseases related to Cardiomyopathy, Dilated, 1gg via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 leigh syndrome with leukodystrophy 10.3 SDHA NDUFS2
2 hereditary renal cell carcinoma 10.3 SDHA FH
3 persistent generalized lymphadenopathy 10.2 SDHA FH
4 fumarase deficiency 10.2 SDHA FH
5 carbuncle 10.1 NFKBIA CAT
6 paraganglioma and gastric stromal sarcoma 10.0 SDHA FH
7 postgastrectomy syndrome 9.9 MLN ATP12A
8 vagus nerve disease 9.9 ATP4A ATP12A
9 hemangioma of intra-abdominal structure 9.9 ATP4A ATP12A
10 acquired gastric outlet stenosis 9.9 ATP4A ATP12A
11 displacement of cardia through esophageal hiatus 9.9 ATP4A ATP12A
12 angiodysplasia of intestine 9.9 ATP4A ATP12A
13 angiodysplasia 9.9 ATP4A ATP12A
14 benzylpenicillin allergy 9.9 ATP4A ATP12A
15 penicillin allergy 9.9 ATP4A ATP12A
16 granulomatous gastritis 9.9 ATP4A ATP12A
17 bacterial esophagitis 9.9 ATP4A ATP12A
18 lingual goiter 9.9 ATP4A ATP12A
19 cascade stomach 9.9 ATP4A ATP12A
20 gastrojejunal ulcer 9.8 ATP4A ATP12A
21 median arcuate ligament syndrome 9.8 ATP4A ATP12A
22 laryngeal tuberculosis 9.8 ATP4A ATP12A
23 fungal esophagitis 9.8 ATP4A ATP12A
24 dieulafoy lesion 9.8 ATP4A ATP12A
25 esophagus melanoma 9.8 ATP4A ATP12A
26 emphysematous cholecystitis 9.8 ATP4A ATP12A
27 necrotizing gastritis 9.8 ATP4A ATP12A
28 cervix erosion 9.8 ATP4A ATP12A
29 gastric gastrinoma 9.8 ATP4A ATP12A
30 superior mesenteric artery syndrome 9.8 ATP4A ATP12A
31 chronic laryngitis 9.8 ATP4A ATP12A
32 laryngitis 9.8 ATP4A ATP12A
33 cefuroxime allergy 9.8 ATP4A ATP12A
34 polyposis, skin pigmentation, alopecia, and fingernail changes 9.8 ATP4A ATP12A
35 chronic intestinal vascular insufficiency 9.8 ATP4A ATP12A
36 peptic ulcer perforation 9.8 ATP4A ATP12A
37 rumination disorder 9.8 ATP4A ATP12A
38 acute laryngitis 9.8 ATP4A ATP12A
39 gastroduodenitis 9.8 ATP4A ATP12A
40 duodenitis 9.8 ATP4A ATP12A
41 duodenal gastrinoma 9.8 ATP4A ATP12A
42 gastric hemangioma 9.8 ATP4A ATP12A
43 internal hemorrhoid 9.8 ATP4A ATP12A
44 hemorrhoid 9.8 ATP4A ATP12A
45 pancreatic gastrinoma 9.8 ATP4A ATP12A
46 gastric dilatation 9.8 ATP4A ATP12A
47 scalp dermatosis 9.8 ATP4A ATP12A
48 central nervous system origin vertigo 9.8 ATP4A ATP12A
49 diclofenac allergy 9.8 ATP4A ATP12A
50 lymphocytic gastritis 9.8 ATP4A ATP12A

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1gg:



Diseases related to Cardiomyopathy, Dilated, 1gg

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1gg

Human phenotypes related to Cardiomyopathy, Dilated, 1gg:

31
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 HP:0001644

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
left ventricular hypertrophy
cardiomyopathy
cardiogenic shock
left ventricular noncompaction
mitral valve insufficiency
more
Laboratory Abnormalities:
mildly increased lactate
decreased complex ii activity muscle (50-60% residual activity)
decreased complex ii activity myocardium (15-18% residual activity)

Respiratory:
respiratory distress secondary to cardiac insufficiency

Clinical features from OMIM:

613642

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1gg

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 1gg

Genetic Tests for Cardiomyopathy, Dilated, 1gg

Genetic tests related to Cardiomyopathy, Dilated, 1gg:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1gg 29 SDHA

Anatomical Context for Cardiomyopathy, Dilated, 1gg

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1gg:

40
Heart

Publications for Cardiomyopathy, Dilated, 1gg

Articles related to Cardiomyopathy, Dilated, 1gg:

# Title Authors PMID Year
1
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. 6 56
20551992 2010
2
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. 6
16798039 2006
3
Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II. 6
12794685 2003
4
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. 6
10746566 2000
5
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. 6
7550341 1995

Variations for Cardiomyopathy, Dilated, 1gg

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 1gg:

6 (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SDHA NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu)SNV Pathogenic 8745 rs137852768 5:251453-251453 5:251338-251338
2 SDHA NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)SNV Conflicting interpretations of pathogenicity 142601 rs142441643 5:223624-223624 5:223509-223509
3 SDHA NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)SNV Conflicting interpretations of pathogenicity 160358 rs200397144 5:251542-251542 5:251427-251427
4 SDHA NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)SNV Conflicting interpretations of pathogenicity 231183 rs377632619 5:256513-256513 5:256398-256398
5 SDHA NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)SNV Conflicting interpretations of pathogenicity 252908 rs372480044 5:256459-256459 5:256344-256344
6 SDHA NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)SNV Conflicting interpretations of pathogenicity 252912 rs200526913 5:233687-233687 5:233572-233572
7 SDHA NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)SNV Conflicting interpretations of pathogenicity 371975 rs199844384 5:233751-233751 5:233636-233636
8 SDHA NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)SNV Uncertain significance 239687 rs752532780 5:223625-223625 5:223510-223510
9 SDHA NM_004168.4(SDHA):c.694C>T (p.Arg232Cys)SNV Uncertain significance 239680 rs878854635 5:228372-228372 5:228257-228257
10 SDHA NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)SNV Uncertain significance 252906 rs377470390 5:224479-224479 5:224364-224364
11 SDHA NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)SNV Uncertain significance 221076 rs144513891 5:228382-228382 5:228267-228267
12 SDHA NM_004168.4(SDHA):c.739A>G (p.Ile247Val)SNV Uncertain significance 232828 rs571292356 5:228417-228417 5:228302-228302
13 SDHA NM_004168.4(SDHA):c.613T>C (p.Tyr205His)SNV Uncertain significance 412329 rs61754481 5:226154-226154 5:226039-226039
14 SDHA NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)SNV Uncertain significance 412364 rs377509915 5:233651-233651 5:233536-233536
15 SDHA NM_004168.4(SDHA):c.812C>G (p.Thr271Ser)SNV Uncertain significance 412341 rs765611464 5:231032-231032 5:230917-230917
16 SDHA NM_004168.4(SDHA):c.685G>A (p.Gly229Arg)SNV Uncertain significance 441034 rs41495051 5:228363-228363 5:228248-228248
17 SDHA NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala)SNV Uncertain significance 472302 rs776888362 5:235344-235344 5:235229-235229
18 SDHA NM_004168.4(SDHA):c.994C>T (p.Pro332Ser)SNV Uncertain significance 472424 rs373509391 5:233690-233690 5:233575-233575
19 SDHA NM_004168.4(SDHA):c.445G>A (p.Ala149Thr)SNV Uncertain significance 486367 rs575617625 5:225666-225666 5:225551-225551
20 SDHA NM_004168.4(SDHA):c.448G>A (p.Val150Met)SNV Uncertain significance 486371 rs542980860 5:225669-225669 5:225554-225554
21 SDHA NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys)SNV Uncertain significance 578770 rs182055219 5:233598-233598 5:233483-233483

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1gg:

73
# Symbol AA change Variation ID SNP ID
1 SDHA p.Gly555Glu VAR_016879 rs137852768

Expression for Cardiomyopathy, Dilated, 1gg

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1gg.

Pathways for Cardiomyopathy, Dilated, 1gg

GO Terms for Cardiomyopathy, Dilated, 1gg

Cellular components related to Cardiomyopathy, Dilated, 1gg according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.26 SDHA NDUFS2 HADHA CKMT2
2 mitochondrion GO:0005739 9.17 SDHA OXCT1 NDUFS2 HADHA FH CKMT2

Biological processes related to Cardiomyopathy, Dilated, 1gg according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tricarboxylic acid cycle GO:0006099 9.32 SDHA FH
2 cellular sodium ion homeostasis GO:0006883 9.26 ATP4A ATP12A
3 sodium ion export across plasma membrane GO:0036376 9.16 ATP4A ATP12A
4 cellular potassium ion homeostasis GO:0030007 8.96 ATP4A ATP12A
5 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 8.62 ATP4A ATP12A

Molecular functions related to Cardiomyopathy, Dilated, 1gg according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NAD binding GO:0051287 9.26 NDUFS2 HADHA
2 sodium:potassium-exchanging ATPase activity GO:0005391 9.16 ATP4A ATP12A
3 potassium-transporting ATPase activity GO:0008556 8.96 ATP4A ATP12A
4 potassium:proton exchanging ATPase activity GO:0008900 8.62 ATP4A ATP12A

Sources for Cardiomyopathy, Dilated, 1gg

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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