MCID: CRD235
MIFTS: 26

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 58

Characteristics:

OMIM:

58
Inheritance:
isolated cases

Miscellaneous:
onset of symptoms in fifth decade


HPO:

33
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, spheroid body and extracardiac rhabdomyoma. 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 Arrhythmogenic right ventricular cardiomyopathy (ARVC). Related phenotypes are respiratory insufficiency and dyspnea

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

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:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 33 HP:0002093
2 dyspnea 33 HP:0002094
3 cardiomyopathy 33 HP:0001638
4 nemaline bodies 33 HP:0003798
5 areflexia 33 HP:0001284
6 hyporeflexia 33 HP:0001265
7 limb muscle weakness 33 HP:0003690
8 distal sensory impairment 33 HP:0002936
9 limitation of neck motion 33 HP:0005986
10 global systolic dysfunction 33 HP:0005185
11 cervical vertebral bodies with decreased anteroposterior diameter 33 HP:0008483
12 fusion of midcervical facet joints 33 HP:0004575
13 widening of cervical spinal canal 33 HP:0004571

Symptoms via clinical synopsis from OMIM:

58
Respiratory Lung:
respiratory insufficiency
dyspnea, progressive

Head And Neck Neck:
limitation of neck motion

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

Cardiovascular Heart:
cardiomyopathy
global systolic dysfunction

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

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:

47
# 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 Year
1
Familial cardioneuromyopathy with hyaline masses and nemaline rods: a novel phenotype. ( 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 DES DMD NEB
2 sarcolemma GO:0042383 9.32 DES DMD
3 sarcomere GO:0030017 9.26 NEB TTN
4 myofibril GO:0030016 9.16 DMD NEB
5 contractile fiber GO:0043292 8.96 DES NEB
6 Z disc GO:0030018 8.92 DES DMD NEB TTN

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 DES DMD
2 muscle contraction GO:0006936 9.26 DES TTN
3 muscle organ development GO:0007517 9.16 DMD NEB
4 cardiac muscle contraction GO:0060048 8.96 DMD TTN
5 muscle filament sliding GO:0030049 8.92 DES DMD NEB TTN

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 NEB TTN
2 structural constituent of cytoskeleton GO:0005200 8.96 DES DMD
3 structural constituent of muscle GO:0008307 8.8 DMD NEB TTN

Sources for Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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