MCID: CRD235
MIFTS: 27

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:



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 hyporeflexia and areflexia

Description from OMIM: 606842

Related Diseases for Cardioneuromyopathy with Hyaline Masses and Nemaline Rods

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

Symptoms via clinical synopsis from OMIM:

57
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

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

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

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 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 9.5 DES DMD NEB
2 sarcolemma GO:0042383 9.26 DES DMD
3 myofibril GO:0030016 9.16 DMD NEB
4 contractile fiber GO:0043292 8.96 DES NEB
5 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 structural constituent of cytoskeleton GO:0005200 8.96 DES DMD
2 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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