Congestive heart failure, and Feeding difficulties in infancy

Diseases related with Congestive heart failure and Feeding difficulties in infancy

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Feeding difficulties in infancy that can help you solving undiagnosed cases.


Top matches:

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23


Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Medium match HYPERKALEMIC PERIODIC PARALYSIS


Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.

HYPERKALEMIC PERIODIC PARALYSIS Is also known as adynamia episodica hereditaria|hypp|familial hyperkalemic periodic paralysis|hyperkpp|gamstorp disease|familial hyperpp|gamstorp episodic adynamy|hyperpp|hyperkalemic pp|primary hyperpp|primary hyperkalemic periodic paralysis

Related symptoms:

  • Flexion contracture
  • Skeletal muscle atrophy
  • Gait disturbance
  • Respiratory insufficiency
  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about HYPERKALEMIC PERIODIC PARALYSIS

Medium match SYSTEMIC PRIMARY CARNITINE DEFICIENCY


Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

SYSTEMIC PRIMARY CARNITINE DEFICIENCY Is also known as cud|carnitine uptake deficiency|carnitine transporter defect|systemic carnitine deficiency|deficiency of plasma-membrane carnitine transporter|scd|carnitine deficiency, primary|carnitine deficiency, systemic, due to defect in renal reabsorption of carniti

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYSTEMIC PRIMARY CARNITINE DEFICIENCY

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY


Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Medium match MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY


Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY Is also known as tfpd|tfp deficiency

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY

Medium match CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS


Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Medium match SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY


Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.

SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as scad deficiency|scadh deficiency|acads deficiency|lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency|scadd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Medium match CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME


Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

Medium match BARTH SYNDROME


Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.

BARTH SYNDROME Is also known as bths|3-methylglutaconic aciduria type 2|mgca2|x-linked cardioskeletal myopathy and neutropenia|cardioskeletal myopathy with neutropenia and abnormal mitochondria|mga2|mga, type ii|cardioskeletal myopathy-neutropenia syndrome|3-methylglutaconic aciduria, t

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BARTH SYNDROME

Medium match ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Congestive heart failure and Feeding difficulties in infancy

Symptoms // Phenotype % cases
Cardiomyopathy Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Congestive heart failure and Feeding difficulties in infancy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Motor delay

Uncommon Symptoms - Between 30% and 50% cases


Arrhythmia

Common Symptoms - More than 50% cases


Hypertrophic cardiomyopathy

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Flexion contracture Dilated cardiomyopathy Respiratory insufficiency Lactic acidosis Seizures Acidosis Growth delay Easy fatigability Exercise intolerance Hypoglycemia Respiratory tract infection Muscular hypotonia Lethargy Facial palsy Generalized muscle weakness Ophthalmoplegia Hypertonia Proximal muscle weakness Global developmental delay Respiratory distress Hyperammonemia External ophthalmoplegia Areflexia Decreased plasma carnitine Skeletal myopathy Vomiting Fatigue Ptosis Neonatal hypotonia Intellectual disability Scoliosis Aciduria Elevated serum creatine phosphokinase Organic aciduria Increased serum lactate Cognitive impairment

Rare Symptoms - Less than 30% cases


Talipes equinovarus 3-Methylglutaconic aciduria Ragged-red muscle fibers Abnormality of mitochondrial metabolism Mitochondrial myopathy Protruding ear Hyperlordosis High palate Delayed speech and language development Left ventricular noncompaction Short stature Stroke Diarrhea Retrognathia Dyspnea Pes cavus Waddling gait Edema Respiratory insufficiency due to muscle weakness Optic atrophy Decreased fetal movement Dysphagia Hyperreflexia Myopathic facies Microcephaly Rhabdomyolysis Infantile muscular hypotonia Cataract Hydrops fetalis Pectus excavatum Pigmentary retinopathy Nystagmus Apnea Peripheral neuropathy Type 1 muscle fiber predominance Facial diplegia Congenital contracture EMG: myopathic abnormalities Osteopenia Respiratory failure Myalgia Intrauterine growth retardation Skeletal muscle atrophy Ketonuria Gait disturbance Hypoketotic hypoglycemia Endocardial fibroelastosis Ophthalmoparesis Myotonia Visual impairment Elevated hepatic transaminase Recurrent respiratory infections Encephalopathy Left ventricular hypertrophy Hepatic steatosis Exercise-induced lactic acidemia Infantile axial hypotonia Inferior vermis hypoplasia Abnormal muscle fiber protein expression Fatty replacement of skeletal muscle Depletion of mitochondrial DNA in muscle tissue Decreased activity of mitochondrial respiratory chain Mandibular prognathia Dilatation Recurrent infections Abnormal heart morphology Macrotia Deeply set eye Broad forehead Delayed puberty Talipes Neutropenia Abnormal myelination Abnormal facial shape Right ventricular hypertrophy Pulmonary arterial hypertension Hypertension Myopia Headache Thrombocytopenia Cerebellar hypoplasia Glaucoma EMG abnormality Mental deterioration Fasciculations Congenital cataract Esotropia Hemiparesis Cardiorespiratory arrest Cardiac arrest Corneal dystrophy Tachypnea Chest pain Eosinophilia Recurrent upper respiratory tract infections Abnormal electroretinogram Premature ovarian insufficiency Paresthesia Hypoplasia of the brainstem Full cheeks Meningocele Sepsis Spontaneous abortion Sudden cardiac death Leukodystrophy Absent speech Babinski sign Dementia Myoclonus Developmental regression Retinopathy Tetraplegia Generalized myoclonic seizures Spastic tetraplegia Mitral regurgitation Congenital hip dislocation Blindness Leukoencephalopathy Oral-pharyngeal dysphagia Ketosis Preeclampsia Paraganglioma Hemolytic-uremic syndrome Increased intramyocellular lipid droplets Progressive leukoencephalopathy Decreased activity of mitochondrial complex II Abnormal mitochondria in muscle tissue Left ventricular systolic dysfunction Dystonia Spasticity Round face Abnormality of neutrophils Specific learning disability Eczema Reduced tendon reflexes Recurrent bacterial infections Ventricular arrhythmia Poor appetite Recurrent aphthous stomatitis Left ventricular failure Abnormality of the mitochondrion Hypocholesterolemia Granulocytopenia Ataxia Abnormal endocardium morphology Prolonged QTc interval Pyoderma Monocytosis Abnormal mitochondrial morphology Abnormal mitochondrial shape Agranulocytosis Cyclic neutropenia Increased mitochondrial number Recurrent infections in infancy and early childhood Intermittent lactic acidemia Strabismus Cerebral palsy Hypoglycemic encephalopathy Coma Gowers sign Generalized amyotrophy Difficulty climbing stairs Long fingers Exertional dyspnea Abnormal heart valve morphology Centrally nucleated skeletal muscle fibers Hip contracture Difficulty running Cardiomegaly Axial muscle weakness Bilateral ptosis EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Confusion Abnormality of the liver Small for gestational age Muscle cramps Irritability Cholestasis Abdominal pain Myoglobinuria Abnormality of the amniotic fluid Recurrent myoglobinuria Ventricular hypertrophy Dysphonia Fever Fasting hypoglycemia Irregular respiration Reduced muscle carnitine level Dysarthria Impaired gluconeogenesis Intellectual disability, mild Kyphosis Reye syndrome-like episodes Acute encephalopathy Narrow mouth Generalized tonic-clonic seizures with focal onset Difficulty walking Clumsiness Recurrent hypoglycemia Excessive daytime somnolence Distal muscle weakness Neck muscle weakness Long face Decreased muscle mass Bifid uvula Delayed gross motor development Progressive muscle weakness Scapular winging Bradycardia Prenatal maternal abnormality Hepatomegaly Ethylmalonic aciduria Late-onset distal muscle weakness Hypoventilation EMG: neuropathic changes Fetal akinesia sequence Nemaline bodies Breech presentation Slender build Neck flexor weakness Diaphragmatic paralysis Fetal distress Percussion myotonia Skeletal muscle hypertrophy Spinal rigidity Hyponatremia Hyperactivity Abnormality of the cerebral white matter Metabolic acidosis Hypokalemia Psychosis Progressive external ophthalmoplegia Decreased carnitine level in liver U-Shaped upper lip vermilion Nonketotic hypoglycemia Episodic metabolic acidosis Thin ribs Bulbar palsy Abnormality of the skeletal system Limb muscle weakness Pain Periodic hyperkalemic paralysis Episodic flaccid weakness Hyporeflexia Malignant hyperthermia Polyhydramnios Rigidity Paralysis Cough Arthrogryposis multiplex congenita Genu valgum Mildly elevated creatine phosphokinase Falls Pulmonary hypoplasia Bowel incontinence Frequent falls Joint contracture of the hand Narrow face Foot dorsiflexor weakness Knee flexion contracture Akinesia Mask-like facies Hyperkalemia Stress/infection-induced lactic acidosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Pectus excavatum, related diseases and genetic alterations Macrocephaly and Short neck, related diseases and genetic alterations Edema and Choanal atresia, related diseases and genetic alterations Myopathy and Lymphadenopathy, related diseases and genetic alterations Failure to thrive and Optic atrophy, related diseases and genetic alterations Hypertelorism and Flexion contracture, related diseases and genetic alterations Scoliosis and Tall stature, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more