Failure to thrive, and Tachycardia

Diseases related with Failure to thrive and Tachycardia

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

Top matches:

Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. Three forms of PAP have been described: hereditary (usually congenital), secondary, and acquired. Hereditary PAP is associated with mutations in the CSF2RA gene or in genes encoding surfactant proteins. Secondary PAP develops in conditions in which there are reduced numbers or functional impairment of alveolar macrophages and is associated with inhalation of inorganic dust (silica) or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, infections, and impaired CSF2RB (OMIM ) expression. Acquired PAP (OMIM ), the most common form, usually occurs in adults and is caused by neutralizing autoantibodies to CSF2 (OMIM ) (Martinez-Moczygemba et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of congenital pulmonary surfactant metabolism dysfunction, see SMDP1 (OMIM ).

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4 Is also known as pulmonary alveolar proteinosis, congenital, 4|csf2ra deficiency|pap due to csf2ra deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Respiratory insufficiency
  • Respiratory distress
  • Pneumonia


SOURCES: MESH OMIM MENDELIAN

More info about SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4

Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by Yu et al., 2011).

IMMUNODEFICIENCY 19; IMD19 Is also known as scid, t cell-negative, b cell-positive, nk cell-positive|cd3-delta deficiency|severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive

Related symptoms:

  • Failure to thrive
  • Fever
  • Respiratory distress
  • Diarrhea
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 19; IMD19

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency|doss porphyria|delta-aminolevulinate dehydratase deficiency|alad porphyria|porphyria, alad|porphyria of doss|alad deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY

Other less relevant matches:

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3 Is also known as linear skin defects with cardiomyopathy and other congenital anomalies

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3

Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014).

PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME Is also known as nlrc4-related macrophage activation syndrome|nlrc4-related infantile enterocolitis-autoinflammatory syndrome|nlrc4-related autoinflammatory syndrome with macrophage activation syndrome|nlrc4-related mas|nlrc4-related autoinflammatory syndrome with mas

Related symptoms:

  • Seizures
  • Short stature
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (OMIM ).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

GITELMAN SYNDROME; GTLMNS Is also known as hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|potassium and magnesium depletion

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GITELMAN SYNDROME; GTLMNS

Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.

NESTOR-GUILLERMO PROGERIA SYNDROME Is also known as progeria syndrome, childhood-onset, with osteolysis|ngps|pscoo

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NESTOR-GUILLERMO PROGERIA SYNDROME

Low match DK1-CDG

DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

Low match OGDEN SYNDROME

Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.

OGDEN SYNDROME Is also known as n-terminal acetyltransferase deficiency|premature aging appearance-developmental delay-cardiac arrhythmia syndrome|natd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about OGDEN SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Tachycardia

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Tachycardia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ventricular tachycardia Global developmental delay Muscular hypotonia Diarrhea Sparse and thin eyebrow Cardiomyopathy Vomiting Hypertension Pain Muscle weakness Fever

Rare Symptoms - Less than 30% cases

Encephalopathy Hypoglycemia Congestive heart failure Bradycardia Hepatomegaly Ventricular fibrillation Respiratory distress Nystagmus Paresthesia Strabismus Cognitive impairment Severe muscular hypotonia Tachypnea Cardiac arrest Ataxia Intellectual disability Dilated cardiomyopathy Scoliosis Abdominal pain Midface retrusion Myalgia Respiratory insufficiency Sparse eyelashes Arthralgia Lymphopenia Proptosis Splenomegaly Fatigue Muscular hypotonia of the trunk Constipation Anemia Inflammatory abnormality of the skin Lipoatrophy Behavioral abnormality Neurodevelopmental delay Sacral dimple Abnormality of coagulation Bilateral talipes equinovarus Hyperglycemia Erythroderma Leukopenia Hypoketotic hypoglycemia Microcytic anemia Adactyly Low-set ears Cryptorchidism Abnormal facial shape Hypertelorism Microcephaly Aplasia of the fingers Abnormal isoelectric focusing of serum transferrin Epileptic spasms Reduced antithrombin III activity Type I transferrin isoform profile Aplasia/Hypoplasia of the nipples Congenital hepatic fibrosis Aspiration Myocarditis Recurrent pneumonia Apnea Postnatal microcephaly Abnormality of the forearm Insulin resistance Osteolysis Atherosclerosis Tricuspid regurgitation Right bundle branch block Bundle branch block Reduced subcutaneous adipose tissue Delayed closure of the anterior fontanelle Arteriosclerosis Wide cranial sutures Sinus tachycardia Osteolytic defects of the distal phalanges of the hand Spotty hyperpigmentation Progressive clavicular acroosteolysis Renal insufficiency Thin skin Dilatation Absent speech Elevated serum creatine phosphokinase Alopecia Cerebral cortical atrophy Hyperkeratosis Elevated hepatic transaminase Dry skin Ichthyosis Neutropenia Tetraplegia Abnormal bleeding Cyanosis Hypsarrhythmia High palate Acetabular dysplasia Depressed nasal bridge Broad hallux Long eyelashes Abnormality of the forehead Stereotypy Low anterior hairline Microretrognathia Torticollis Cutis laxa Abnormal head movements Shock Scrotal hypoplasia Delayed gross motor development Coarse hair Deep philtrum Redundant skin Delayed cranial suture closure Narrow forehead Everted upper lip vermilion Torsade de pointes Supraventricular tachycardia Thick upper lip vermilion Shuffling gait Excessive daytime somnolence Ventricular extrasystoles Premature coronary artery atherosclerosis Aplasia/Hypoplasia of the eyebrow Capillary malformation Abnormality of the nares Short columella Cardiogenic shock Pulmonary artery stenosis Poor eye contact Fine hair Waddling gait Epicanthus Delayed skeletal maturation Wide nasal bridge Downslanted palpebral fissures Frontal bossing Ventricular septal defect Ventriculomegaly Atrial septal defect Hypertonia Abnormality of the dentition Enlarged naris Unilateral cryptorchidism Cerebral atrophy Recurrent infections Hernia Inguinal hernia Mitral regurgitation Underdeveloped nasal alae Pectus carinatum Highly arched eyebrow Small hand Minimal subcutaneous fat High, narrow palate Abnormality of the foot Lethargy Autistic behavior Prominent forehead Postnatal growth retardation Neonatal hypotonia Deeply set eye Thin upper lip vermilion Coarse facial features Macrotia Dental crowding Pollakisuria Hypertriglyceridemia Colitis Pericardial effusion Sclerocornea Dilation of lateral ventricles Cavum septum pellucidum Lacrimal duct atresia Histiocytoid cardiomyopathy Hyperpigmented streaks Arthritis Skin rash Pancytopenia Decreased liver function Abnormality of the coagulation cascade Loss of consciousness Increased serum ferritin Cerebellar hypoplasia Enterocolitis Disseminated intravascular coagulation Secretory diarrhea Diffuse alveolar hemorrhage Spasticity Feeding difficulties Motor delay Optic atrophy Dystonia Acidosis Hypertrophic cardiomyopathy Small for gestational age Poor speech Lactic acidosis Agenesis of corpus callosum Microphthalmia Ascites Chronic diarrhea Pneumonia Respiratory failure Abnormal lung morphology Restrictive ventilatory defect Hypoxemia Foam cells Alveolar proteinosis Crackles Immunodeficiency Recurrent respiratory infections Respiratory tract infection Hepatic failure Hepatitis Recurrent otitis media Combined immunodeficiency Intrauterine growth retardation Severe combined immunodeficiency Peripheral neuropathy Hemolytic anemia Sensory neuropathy Polyneuropathy Psychosis Hemiparesis Hyponatremia Motor axonal neuropathy Respiratory paralysis Wrist drop Abdominal colic Elevated urinary delta-aminolevulinic acid Myopia Metabolic acidosis Increased serum lactate Pulmonary arterial hypertension Hypokalemic metabolic alkalosis Hyperventilation Hypomagnesemia Renal salt wasting Alkalosis Chondrocalcinosis Enuresis Tetany Metabolic alkalosis Increased circulating renin level Periodic paralysis Hypovolemia Hypocalciuria Hypokalemic alkalosis Nocturia Rhabdomyolysis Renal potassium wasting Hypochloremia Renal magnesium wasting Salt craving Micrognathia Flexion contracture Abnormality of the skeletal system Malar flattening Osteoporosis Diabetes mellitus Dyspnea Joint stiffness Convex nasal ridge Abnormality of the ribs Episodic fever Prolonged QT interval Cardiomegaly Confusion Infantile muscular hypotonia Pleural effusion Aspiration pneumonia Ketonuria Wolff-Parkinson-White syndrome Sinus bradycardia Severe lactic acidosis Hyperalaninemia Decreased activity of mitochondrial respiratory chain Anxiety Erythema Paralysis Nausea and vomiting Delayed puberty Vertigo Blurred vision Nausea Nephropathy Postural instability Muscle cramps Generalized muscle weakness Hypotension Dehydration Palpitations Ventricular arrhythmia Hyperkinesis Hypokalemia Hypercalciuria Polydipsia Polyuria Facial wrinkling


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Delayed eruption of teeth, related diseases and genetic alterations Dysarthria and Constipation, related diseases and genetic alterations Intellectual disability, severe and Coarse facial features, related diseases and genetic alterations Tremor and Hypertriglyceridemia, related diseases and genetic alterations