Congestive heart failure, and Constipation

Diseases related with Congestive heart failure and Constipation

In the following list you will find some of the most common rare diseases related to Congestive heart failure 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 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

Medium match OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16


Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae (Keller et al., 2018; Lindahl et al., 2018).

OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16 Is also known as oi, type xvi

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hepatomegaly
  • Congestive heart failure
  • Constipation


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16

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Other less relevant matches:

Medium match THYROTOXIC PERIODIC PARALYSIS


Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

Medium match DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS


Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

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 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 ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Medium match DUCHENNE MUSCULAR DYSTROPHY


Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

DUCHENNE MUSCULAR DYSTROPHY Is also known as dmd|duchenne muscular dystrophy|severe dystrophinopathy, duchenne type|muscular dystrophy, pseudohypertrophic progressive, duchenne type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DUCHENNE MUSCULAR DYSTROPHY

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4


Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Top 5 symptoms//phenotypes associated to Congestive heart failure and Constipation

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Diarrhea Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Constipation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Myopathy Vomiting Pain Flexion contracture Distal muscle weakness Proximal muscle weakness Sudden cardiac death Atrial fibrillation Muscle stiffness Weight loss Palpitations Dilatation Scoliosis Myalgia Intellectual disability Hearing impairment Malabsorption Dyspnea Renal insufficiency Hyporeflexia Exercise intolerance Mildly elevated creatine phosphokinase Muscular dystrophy Elevated serum creatine phosphokinase Tachycardia Hypertrophic cardiomyopathy Facial palsy Dilated cardiomyopathy Ventricular tachycardia EMG: myopathic abnormalities Paresthesia Late-onset proximal muscle weakness Atrioventricular block

Rare Symptoms - Less than 30% cases


Generalized hypotonia Progressive proximal muscle weakness Restrictive cardiomyopathy Arthritis Intestinal pseudo-obstruction Global developmental delay Urinary retention Dysphagia Hyperlordosis Prolonged QT interval Ventricular fibrillation Ventricular arrhythmia Myotonia Hypokalemia Seizures Chest pain Ataxia Peripheral neuropathy Generalized muscle weakness Limb muscle weakness Ventricular hypertrophy Joint stiffness Respiratory failure Progressive muscle weakness Lower limb muscle weakness Limb-girdle muscular dystrophy Respiratory insufficiency Delayed speech and language development Cataract Bundle branch block Bilateral sensorineural hearing impairment Vertigo Increased variability in muscle fiber diameter Difficulty climbing stairs Diabetes mellitus Spinal rigidity Dysarthria Visual impairment Sensorineural hearing impairment Pneumonia Hepatomegaly Respiratory insufficiency due to muscle weakness Orthostatic hypotension Impotence Peripheral axonal neuropathy Right bundle branch block Restrictive heart failure Bulbar palsy Neck muscle weakness Abnormal levels of creatine kinase in blood Hyporeflexia of lower limbs Right ventricular cardiomyopathy Heart block Left bundle branch block Cardiac amyloidosis Skeletal myopathy Exertional dyspnea Osteopenia Tremor Scarring Cerebral atrophy Shoulder girdle muscle weakness Limb-girdle muscle weakness Recurrent respiratory infections Hyperactivity EEG abnormality Abnormality of the eye Chromosome breakage Respiratory tract infection Male pseudohermaphroditism Myoglobinuria Gowers sign Congenital muscular dystrophy Nyctalopia Hypoventilation Attention deficit hyperactivity disorder Cough Difficulty running Falls Distal amyotrophy Abnormality of color vision Macroglossia Calf muscle hypertrophy Waddling gait Specific learning disability Toe walking Abnormal EKG Blindness Intellectual disability, mild Increased CSF protein Hallucinations Vasculitis Abnormal autonomic nervous system physiology Paraparesis Spastic paraparesis Cachexia Rheumatoid arthritis Cerebral hemorrhage Malnutrition Aphasia Axonal degeneration Decreased number of peripheral myelinated nerve fibers Amyloidosis Syringomyelia Multiple myeloma Behavioral abnormality Amyloid deposition in the vitreous humor Breech presentation Intellectual disability, severe Skeletal muscle atrophy Motor delay Cognitive impairment Muscular hypotonia Vitreous floaters Stroke-like episode Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Sensory ataxia Abnormal renal physiology Myelopathy Constrictive median neuropathy Congenital stationary night blindness Paralysis Gastrointestinal dysmotility Lipodystrophy IgA deficiency Secondary amenorrhea Lipoatrophy Reduced subcutaneous adipose tissue Cutis marmorata Skeletal muscle hypertrophy Failure to thrive in infancy Hyperinsulinemia Supraventricular tachycardia Prominent supraorbital ridges Pyloric stenosis Polycystic ovaries Reduced bone mineral density Delayed gross motor development Pancreatitis Atherosclerosis Protuberant abdomen Prominent superficial veins Acanthosis nigricans Atlantoaxial instability Muscle mounding Abnormality of skeletal muscle fiber size Cervical spine instability Generalized muscle hypertrophy Prominent umbilicus Abnormality of upper lip Congenital generalized lipodystrophy Polymorphic ventricular tachycardia Exercise-induced myalgia Fasting hyperinsulinemia Loss of subcutaneous adipose tissue in limbs Dysmenorrhea Atlantoaxial dislocation Prolonged QTc interval Generalized lipodystrophy Ileus Hyperlipidemia Accelerated skeletal maturation Cardiomegaly Red-green dyschromatopsia Recurrent infections Splenomegaly Talipes equinovarus Abnormality of the skeletal system Feeding difficulties Failure to thrive Absent muscle dystrophin expression Nocturnal hypoventilation Osteoporosis Hemiatrophy Proximal lower limb amyotrophy Calf muscle pseudohypertrophy Muscle fiber necrosis Gastroparesis Shoulder girdle muscle atrophy Proximal muscle weakness in lower limbs Delayed skeletal maturation Hypothyroidism Recurrent bacterial infections Epidermal acanthosis Pointed chin Bradycardia Sparse and thin eyebrow Insulin resistance Long eyelashes Thin skin Hypertriglyceridemia Growth hormone deficiency Hepatosplenomegaly Hepatic steatosis Hirsutism Spastic paraplegia Protruding ear Postnatal growth retardation Neonatal hypotonia Elevated hepatic transaminase Rigidity Hemiparesis Polyneuropathy Peripheral demyelination Gastroesophageal reflux Nausea and vomiting Blue sclerae Carious teeth Autoimmunity Wormian bones Arthralgia Spontaneous abortion Pulmonary arterial hypertension Reduced number of teeth Prolonged bleeding time Agenesis of permanent teeth Thin ribs Soft skin Thyrotoxicosis with toxic multinodular goitre Abnormality of the skin Telangiectasia Transient hypophosphatemia Dyspareunia Bruising susceptibility Recurrent fractures Abnormal bowel sounds Narrow foramen obturatorium Hypertensive crisis Decreased urine output Oliguria Skin ulcer Osteolytic defects of the phalanges of the hand Pulmonary infiltrates Xerostomia Scleroderma Telangiectasia of the skin Pulmonary fibrosis Osteolysis Thyrotoxicosis with toxic single thyroid nodule Decreased urinary potassium Micromelia Hyperreflexia Rhabdomyolysis Hyperthyroidism Dentinogenesis imperfecta Fractures of the long bones Hyperkalemia Beaded ribs Ophthalmoparesis Hashimoto thyroiditis Goiter EMG abnormality Obesity Hyperhidrosis Tetraplegia Muscle cramps Thyroiditis Hypomagnesemia Episodic hypokalemia Increased intramyocellular lipid droplets Thyrotoxicosis with diffuse goiter Second degree atrioventricular block Episodic flaccid weakness Respiratory paralysis Exercise-induced muscle fatigue Periodic hypokalemic paresis Shortened PR interval Heat intolerance Impaired myocardial contractility Postprandial hyperglycemia Abnormality of muscle fibers Periodic paralysis Vertebral compression fractures Abnormality of peripheral nerve conduction Graves disease Joint hypermobility Small for gestational age Neuronal loss in central nervous system Tricuspid regurgitation Atrial flutter Ventricular extrasystoles Centrally nucleated skeletal muscle fibers Rimmed vacuoles Hypokinesia Left anterior fascicular block Akinesia Sick sinus syndrome Scapular winging Elbow flexion contracture Trifascicular block Myocardial infarction Abnormal cardiac septum morphology Syncope Myofibrillar myopathy Third degree atrioventricular block Edema of the lower limbs Nephropathy Hypotension Migraine Urinary incontinence Gliosis Coma Proptosis Paraplegia Pica Dementia Areflexia Headache Hydrocephalus Fever Spasticity Nystagmus Pericardial effusion Right ventricular hypertrophy Ptosis Unsteady gait Pancytopenia Type II diabetes mellitus Abnormal ventricular filling Pigmentary retinopathy Orthostatic syncope Retinal degeneration Ophthalmoplegia Ragged-red muscle fibers Retinopathy Abnormality of the kidney Proteinuria Short stature Optic atrophy Skeletal dysplasia Conductive hearing impairment External ophthalmoplegia Constriction of peripheral visual field Reduced ejection fraction Abnormal chorioretinal morphology Respiratory distress Abnormal echocardiogram Gait disturbance Atrial arrhythmia Biventricular hypertrophy Peripheral edema Abnormality of lipid metabolism Aplasia/Hypoplasia of the cerebellum Retinal atrophy Glomerulopathy Progressive sensorineural hearing impairment Abnormal retinal morphology Macular dystrophy Vestibular dysfunction Hyperglycemia Adipose tissue loss



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