Cardiomyopathy, and Constipation

Diseases related with Cardiomyopathy and Constipation

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Constipation that can help you solving undiagnosed cases.


Top matches:

Medium match DESMINOPATHY


Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.

DESMINOPATHY Is also known as desmin-related myofibrillar myopathy

Related symptoms:

  • Cardiomyopathy
  • Diarrhea
  • Arrhythmia
  • Constipation
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about DESMINOPATHY

Medium match MALONIC ACIDURIA


Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

MALONIC ACIDURIA Is also known as malonyl-coa decarboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MALONIC ACIDURIA

Medium match ATTRV122I AMYLOIDOSIS


Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.

ATTRV122I AMYLOIDOSIS Is also known as attr cardiomyopathy|attrv122i-related amyloidosis|transthyretin-related familial amyloid cardiomyopathy|transthyretin amyloid cardiopathy|ttr-related amyloid cardiomyopathy|ttr-related cardiac amyloidosis

Related symptoms:

  • Muscle weakness
  • Cardiomyopathy
  • Diarrhea
  • Congestive heart failure
  • Arrhythmia


SOURCES: ORPHANET MENDELIAN

More info about ATTRV122I AMYLOIDOSIS

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Other less relevant matches:

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33


COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33

Medium match RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA


Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.

RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA Is also known as inverse recessive dystrophic epidermolysis bullosa|rdeb-i|dystrophic epidermolysis bullosa inversa|inverse rdeb

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA

Medium match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Medium match MATERNALLY-INHERITED DIABETES AND DEAFNESS


Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Medium match SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA


Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type|severe generalized rdeb|dystrophic epidermolysis bullosa, autosomal recessive|rdeb generalisata gravis|epidermolysis bullosa dystrophica, hallopeau-siemens type|rdeb-sev gen|autosomal recessive dystrophic epidermolysis bullosa

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

Medium match MYOPATHY, MYOFIBRILLAR, 1; MFM1


Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 1; MFM1

Medium match WOLFRAM SYNDROME


Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Constipation

Symptoms // Phenotype % cases
Diarrhea Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Dilated cardiomyopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Constipation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness Hypertrophic cardiomyopathy Arrhythmia Peripheral neuropathy Elevated serum creatine phosphokinase Ophthalmoplegia Growth delay Congestive heart failure Flexion contracture Intellectual disability Seizures EMG: myopathic abnormalities Atrial fibrillation

Rare Symptoms - Less than 30% cases


Dilatation Limb muscle weakness Hearing impairment Joint stiffness External ophthalmoplegia Ventricular hypertrophy Lower limb muscle weakness Hypothyroidism Optic atrophy Diabetes mellitus Myalgia Malabsorption Vertigo Ptosis Dysarthria Sensorineural hearing impairment Delayed puberty Atrophic scars Abnormality of the anus Esophageal stricture Squamous cell carcinoma of the skin Ankyloglossia Respiratory insufficiency Corneal erosion Exercise intolerance Ataxia Milia Abnormal blistering of the skin Nephropathy Nail dystrophy Narrow mouth Renal insufficiency Dysphagia Heart block Bundle branch block Right ventricular cardiomyopathy Restrictive heart failure Right bundle branch block Atrioventricular block Metabolic acidosis Bulbar palsy Respiratory insufficiency due to muscle weakness Ventricular tachycardia Sudden cardiac death Distal muscle weakness Recurrent urinary tract infections Late-onset proximal muscle weakness Pain Facial palsy Skeletal myopathy Proximal muscle weakness Short stature Paresthesia Hyporeflexia of lower limbs Acidosis Neck muscle weakness Left bundle branch block Skin vesicle Malnutrition Squamous cell carcinoma Ectropion Fragile skin Scarring alopecia of scalp Blepharitis Atypical scarring of skin Corneal scarring Absent toenail Absent fingernail Refractory anemia Loss of eyelashes Esophageal stenosis Mitten deformity Spontaneous esophageal perforation Hypoalbuminemia Sick sinus syndrome Dermal atrophy Visual loss Vestibular dysfunction Macular dystrophy Abnormal retinal morphology Progressive sensorineural hearing impairment Glomerulopathy Retinal atrophy Abnormality of lipid metabolism Abnormal chorioretinal morphology Neoplasm Syndactyly Alopecia Neoplasm of the skin Osteoporosis Osteopenia Carcinoma Scarring Pruritus Carious teeth Toe syndactyly Nail dysplasia Hypoplasia of dental enamel Joint contracture of the hand Conjunctivitis Progressive visual loss Gait disturbance Scoliosis Tricuspid regurgitation Hypogonadism Muscle stiffness Elbow flexion contracture Dementia Behavioral abnormality Scapular winging Nystagmus Limb-girdle muscular dystrophy Akinesia Pica Third degree atrioventricular block Increased variability in muscle fiber diameter Progressive muscle weakness Mildly elevated creatine phosphokinase Difficulty climbing stairs Hypokinesia Spinal rigidity Rimmed vacuoles Centrally nucleated skeletal muscle fibers Progressive proximal muscle weakness Ventricular extrasystoles Atrial flutter Restrictive cardiomyopathy Myofibrillar myopathy Cerebral cortical atrophy Palpitations Delayed speech and language development Abnormality of the urinary system Intestinal pseudo-obstruction Gastric ulcer Central apnea Respiratory distress Pneumonia Male hypogonadism Dysuria Respiratory failure Dyspnea Diabetes insipidus Polydipsia Abnormal autonomic nervous system physiology Myocardial infarction Hallucinations Gastrointestinal hemorrhage Sleep disturbance Feeding difficulties in infancy Muscular dystrophy Developmental regression Tachycardia Generalized muscle weakness Glaucoma Hyperglycemia Syncope Chest pain Omphalocele Aplasia/Hypoplasia of the cerebellum Fatigue Right ventricular hypertrophy Reduced ejection fraction Abnormal echocardiogram Atrial arrhythmia Biventricular hypertrophy Peripheral edema Cardiac amyloidosis Abnormal ventricular filling Orthostatic syncope Hepatomegaly Encephalopathy Exertional dyspnea Elevated hepatic transaminase Abnormality of the liver Astigmatism Increased serum lactate Oligohydramnios Cardiomegaly Nephrotic syndrome Left ventricular hypertrophy Amblyopia Progressive external ophthalmoplegia Edema of the lower limbs Orthostatic hypotension Recurrent skin infections Hypoglycemia Abnormal levels of creatine kinase in blood Left anterior fascicular block Trifascicular block Global developmental delay Generalized hypotonia Failure to thrive Muscular hypotonia Feeding difficulties Vomiting Abdominal pain Lactic acidosis Pericardial effusion Febrile seizures Pachygyria Heterotopia Hyperammonemia Poor appetite Ketosis Chronic constipation Episodic vomiting Abnormal cardiac septum morphology Peripheral axonal neuropathy Impotence Congenital nephrotic syndrome Keratitis Constriction of peripheral visual field Increased T3/T4 ratio Congenital hip dislocation Wormian bones Coxa vara Hypercholesterolemia Relative macrocephaly Congenital hypothyroidism Drowsiness Long thorax Thyroid hormone receptor defect No permanent dentition Visual impairment Hoarse voice Hypertension Proteinuria Abnormality of the kidney Retinopathy Unsteady gait Retinal degeneration Pigmentary retinopathy Bilateral sensorineural hearing impairment Type II diabetes mellitus Pancytopenia Ragged-red muscle fibers Increased body weight Clumsiness Microglossia Macrocephaly Stenosis of the external auditory canal Abnormal vagina morphology Skin erosion Tongue atrophy Oral mucosal blisters Hypertelorism Abnormal facial shape Cognitive impairment Motor delay Depressed nasal bridge Talipes equinovarus Broad-based gait Anteverted nares Delayed skeletal maturation Skeletal dysplasia Joint laxity Intellectual disability, moderate Hip dislocation Dry skin Flat face Delayed eruption of teeth Macroglossia Limb undergrowth Abnormality of mesentery morphology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Generalized myoclonic seizures, related diseases and genetic alterations Dysarthria and Abnormality of the kidney, related diseases and genetic alterations Delayed speech and language development and Glaucoma, related diseases and genetic alterations Myopathy and Polyneuropathy, related diseases and genetic alterations

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