MCID: CRD235
MIFTS: 22

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
Inheritance:
isolated cases

Miscellaneous:
onset of symptoms in fifth decade


HPO:

32
cardioneuromyopathy with hyaline masses and nemaline rods:
Inheritance sporadic


Classifications:



External Ids:

OMIM 57 606842
MedGen 42 C1847387

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 (DCM). Related phenotypes are respiratory insufficiency and dyspnea

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 all 34)
# Related Disease Score Top Affiliating Genes
1 myopathy 29.7 TTN NEB DES
2 myofibrillar myopathy 28.8 TTN NEB DMD DES
3 nemaline myopathy 10.4
4 myopathy, spheroid body 10.0 TTN DES
5 extracardiac rhabdomyoma 10.0 DMD DES
6 cytoplasmic body myopathy 10.0 DMD DES
7 microcolon 10.0 DMD DES
8 muscular dystrophy, limb-girdle, autosomal recessive 7 10.0 TTN DMD
9 cardiomyopathy, dilated, 1e 9.9 TTN DES
10 muscular dystrophy, limb-girdle, autosomal recessive 6 9.9 TTN DMD
11 centronuclear myopathy 9.9 TTN DMD
12 intrinsic cardiomyopathy 9.9 TTN DMD
13 miyoshi muscular dystrophy 9.9 TTN DMD
14 rigid spine muscular dystrophy 1 9.9 TTN DMD
15 restrictive cardiomyopathy 9.9 TTN DES
16 muscular dystrophy, congenital, lmna-related 9.9 TTN DMD
17 central core disease of muscle 9.8 NEB DES
18 nemaline myopathy 2 9.8 TTN NEB
19 myositis 9.8 TTN DMD
20 hypertrophic cardiomyopathy 9.8 TTN DES
21 limb-girdle muscular dystrophy 9.7 TTN DMD
22 muscle tissue disease 9.6 NEB DMD
23 scoliosis 9.6 TTN DMD
24 myopathy, congenital 9.5 NEB DMD
25 familial isolated dilated cardiomyopathy 9.5 TTN DMD DES
26 dilated cardiomyopathy 9.5 TTN DMD DES
27 neuromuscular disease 9.5 TTN DMD DES
28 atrial standstill 1 9.5 TTN DMD DES
29 left ventricular noncompaction 9.5 TTN DMD DES
30 arrhythmogenic right ventricular cardiomyopathy 9.5 TTN DMD DES
31 rhabdomyosarcoma 9.5 TTN DES
32 muscular disease 9.2 TTN NEB DMD
33 reducing body myopathy 8.8 TTN NEB DMD DES
34 muscular dystrophy 8.8 TTN NEB DMD DES

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:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 32 HP:0002093
2 dyspnea 32 HP:0002094
3 areflexia 32 HP:0001284
4 cardiomyopathy 32 HP:0001638
5 nemaline bodies 32 HP:0003798
6 hyporeflexia 32 HP:0001265
7 limb muscle weakness 32 HP:0003690
8 distal sensory impairment 32 HP:0002936
9 limitation of neck motion 32 HP:0005986
10 widening of cervical spinal canal 32 HP:0004571
11 fusion of midcervical facet joints 32 HP:0004575
12 global systolic dysfunction 32 HP:0005185
13 cervical vertebral bodies with decreased anteroposterior diameter 32 HP:0008483

Symptoms via clinical synopsis from OMIM:

57
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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.26 DES DMD NEB TTN
2 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. 38 8
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 cytoskeleton GO:0005856 9.54 NEB DMD DES
2 sarcolemma GO:0042383 9.32 DMD DES
3 sarcomere GO:0030017 9.26 TTN NEB
4 myofibril GO:0030016 9.16 NEB DMD
5 contractile fiber GO:0043292 8.96 NEB DES
6 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 9.32 DMD DES
2 muscle contraction GO:0006936 9.26 TTN DES
3 muscle organ development GO:0007517 9.16 NEB DMD
4 cardiac muscle contraction GO:0060048 8.96 TTN DMD
5 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 actin filament binding GO:0051015 9.16 TTN NEB
2 structural constituent of cytoskeleton GO:0005200 8.96 DMD DES
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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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