MCID: CRD235
MIFTS: 23

Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

Categories: Cardiovascular diseases

Aliases & Classifications for Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

MalaCards integrated aliases for Cardioneuromyopathy with Hyaline Masses and Nemaline Rods:

Name: Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
isolated cases

Miscellaneous:
onset of symptoms in fifth decade


HPO:

31
cardioneuromyopathy with hyaline masses and nemaline rods:
Inheritance sporadic


Classifications:



Summaries for Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

MalaCards based summary : Cardioneuromyopathy with Hyaline Masses and Nemaline Rods is related to myopathy and myofibrillar myopathy. An important gene associated with Cardioneuromyopathy with Hyaline Masses and Nemaline Rods is DES (Desmin), and among its related pathways/superpathways are Cardiac conduction and Dilated cardiomyopathy. Related phenotypes are respiratory insufficiency and nemaline bodies

More information from OMIM: 606842

Related Diseases for Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

Diseases related to Cardioneuromyopathy with Hyaline Masses and Nemaline Rods via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 myopathy 29.6 TTN NEB DMD DES
2 myofibrillar myopathy 29.6 TTN NEB DMD DES
3 autosomal recessive limb-girdle muscular dystrophy type 2g 10.0 TTN DES
4 extracardiac rhabdomyoma 10.0 DMD DES
5 cytoplasmic body myopathy 10.0 DMD DES
6 cardiomyopathy, dilated, 1h 10.0 TTN DES
7 autosomal dominant distal myopathy 10.0 DMD DES
8 microcolon 10.0 DMD DES
9 atrioventricular block 10.0 TTN DES
10 muscular dystrophy, limb-girdle, autosomal recessive 7 10.0 TTN DMD
11 muscular dystrophy, limb-girdle, autosomal recessive 6 10.0 TTN DMD
12 autosomal recessive limb-girdle muscular dystrophy type 2a 9.9 TTN DMD
13 myopathy, myofibrillar, 3 9.9 TTN DMD
14 cardiomyopathy, familial hypertrophic, 4 9.9 TTN DMD
15 nonaka myopathy 9.9 TTN DMD
16 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.9 TTN DMD
17 megacystis-microcolon-intestinal hypoperistalsis syndrome 9.9 DMD DES
18 muscle hypertrophy 9.9 TTN DMD
19 isolated elevated serum creatine phosphokinase levels 9.9 TTN DMD
20 myopathy, myofibrillar, 5 9.9 TTN DMD
21 rigid spine muscular dystrophy 1 9.9 TTN DMD
22 foot drop 9.9 TTN NEB
23 central core disease of muscle 9.9 NEB DES
24 cardiomyopathy, dilated, 1e 9.9 TTN DES
25 dysphagia 9.9 NEB DES
26 myopathy, spheroid body 9.8 NEB DES
27 intrinsic cardiomyopathy 9.8 TTN DMD
28 hyaline body myopathy 9.8 TTN NEB
29 congenital structural myopathy 9.8 TTN NEB
30 myopathy, myofibrillar, 9, with early respiratory failure 9.8 TTN NEB
31 primary cutaneous amyloidosis 9.8 TTN NEB
32 myocarditis 9.8 TTN DMD
33 muscular dystrophy, congenital, lmna-related 9.7 TTN DMD
34 bethlem myopathy 1 9.7 NEB DMD
35 autosomal recessive limb-girdle muscular dystrophy 9.7 TTN DMD DES
36 miyoshi muscular dystrophy 9.7 TTN DMD DES
37 restrictive cardiomyopathy 9.7 TTN DMD DES
38 emery-dreifuss muscular dystrophy 9.7 TTN DMD DES
39 muscular dystrophy, limb-girdle, autosomal recessive 2 9.7 TTN DMD DES
40 atrial standstill 1 9.7 TTN DMD DES
41 muscular dystrophy, duchenne type 9.7 TTN DMD DES
42 arrhythmogenic right ventricular cardiomyopathy 9.7 TTN DMD DES
43 neuromuscular disease 9.7 TTN DMD DES
44 multiple pterygium syndrome, escobar variant 9.7 NEB DMD
45 rhabdomyosarcoma 9.6 TTN DMD DES
46 hypertrophic cardiomyopathy 9.6 TTN DMD DES
47 neuropathy 9.6 TTN DMD DES
48 cardiomyopathy, familial hypertrophic, 1 9.6 TTN NEB DES
49 tibial muscular dystrophy 9.5 TTN NEB DMD
50 congenital fiber-type disproportion 9.5 TTN NEB DMD

Graphical network of the top 20 diseases related to Cardioneuromyopathy with Hyaline Masses and Nemaline Rods:



Diseases related to Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

Symptoms & Phenotypes for Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

Human phenotypes related to Cardioneuromyopathy with Hyaline Masses and Nemaline Rods:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 31 HP:0002093
2 nemaline bodies 31 HP:0003798
3 dyspnea 31 HP:0002094
4 areflexia 31 HP:0001284
5 hyporeflexia 31 HP:0001265
6 cardiomyopathy 31 HP:0001638
7 limb muscle weakness 31 HP:0003690
8 distal sensory impairment 31 HP:0002936
9 limitation of neck motion 31 HP:0005986
10 global systolic dysfunction 31 HP:0005185
11 widening of cervical spinal canal 31 HP:0004571
12 fusion of midcervical facet joints 31 HP:0004575
13 cervical vertebral bodies with decreased anteroposterior diameter 31 HP:0008483

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Respiratory Lung:
respiratory insufficiency
dyspnea, progressive

Head And Neck Neck:
limitation of neck motion

Neurologic Central Nervous System:
hyporeflexia/areflexia
limb muscle weakness (distal greater than proximal)
mild distal sensory deficits
emg shows fibrillation potentials and mixed myopathic and neurogenic motor unit potentials

Cardiovascular Heart:
cardiomyopathy
global systolic dysfunction

Skeletal Spine:
widening of cervical spinal canal
fusion of midcervical facet joints
cervical vertebral bodies with decreased anteroposterior diameter

Muscle Soft Tissue:
type i fibers with large, irregularly polygonal congophilic hyaline masses and nemaline rods consistent with nonlysosomal protein degradation

Clinical features from OMIM®:

606842 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Cardioneuromyopathy with Hyaline Masses and Nemaline Rods:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 DES DMD NEB TTN

Drugs & Therapeutics for Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

Search Clinical Trials , NIH Clinical Center for Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

Genetic Tests for Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

Anatomical Context for Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

Publications for Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

Articles related to Cardioneuromyopathy with Hyaline Masses and Nemaline Rods:

# Title Authors PMID Year
1
Familial cardioneuromyopathy with hyaline masses and nemaline rods: a novel phenotype. 61 57
11835379 2002

Variations for Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

Expression for Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

Search GEO for disease gene expression data for Cardioneuromyopathy with Hyaline Masses and Nemaline Rods.

Pathways for Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

GO Terms for Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

Cellular components related to Cardioneuromyopathy with Hyaline Masses and Nemaline Rods according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.26 DMD DES
2 myofibril GO:0030016 9.16 NEB DMD
3 contractile fiber GO:0043292 8.96 NEB DES
4 Z disc GO:0030018 8.92 TTN NEB DMD DES

Biological processes related to Cardioneuromyopathy with Hyaline Masses and Nemaline Rods according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.37 DMD DES
2 muscle contraction GO:0006936 9.32 TTN DES
3 muscle organ development GO:0007517 9.26 NEB DMD
4 cardiac muscle contraction GO:0060048 9.16 TTN DMD
5 muscle fiber development GO:0048747 8.96 NEB DMD
6 muscle filament sliding GO:0030049 8.92 TTN NEB DMD DES

Molecular functions related to Cardioneuromyopathy with Hyaline Masses and Nemaline Rods according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.16 DMD DES
2 actin filament binding GO:0051015 9.13 TTN NEB DMD
3 structural constituent of muscle GO:0008307 8.8 TTN NEB DMD

Sources for Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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