Short stature, and Tachycardia

Diseases related with Short stature and Tachycardia

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


Top matches:

Low match ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9


Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Low-set ears
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9

Low match PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME


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

Low match PGM1-CDG


Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

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Other less relevant matches:

Low match FAMILIAL MITRAL VALVE PROLAPSE


Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

Low match PORPHYRIA VARIEGATA


Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

PORPHYRIA VARIEGATA Is also known as variegate porphyria|ppox deficiency|porphyria, south african type|protoporphyrinogen oxidase deficiency|vp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA VARIEGATA

Low match MCLEOD NEUROACANTHOCYTOSIS SYNDROME


McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

Low match SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4


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

Low match BARTTER SYNDROME, TYPE 3; BARTS3


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). Genetic Heterogeneity of Bartter SyndromeAntenatal Bartter syndrome type 1 (OMIM ) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1 ). Antenatal Bartter syndrome type 2 (OMIM ) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1 ). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (OMIM ), is caused by mutation in the BSND gene (OMIM ). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (OMIM ), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (OMIM ), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (OMIM ).See Gitelman syndrome (GTLMN ), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (OMIM ).

BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 3; BARTS3

Low match GITELMAN SYNDROME; GTLMNS


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

Low match NESTOR-GUILLERMO PROGERIA SYNDROME


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

Top 5 symptoms//phenotypes associated to Short stature and Tachycardia

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Short stature and Tachycardia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Vomiting Fever Dyspnea Cardiomyopathy Chest pain Anxiety Diarrhea Intellectual disability Rhabdomyolysis Cardiac arrest Micrognathia Muscle cramps Fatigue Confusion Atrial fibrillation

Rare Symptoms - Less than 30% cases


Hypokalemic metabolic alkalosis Metabolic alkalosis Generalized muscle weakness Increased circulating renin level Dental crowding Mitral regurgitation Hypocalciuria Convex nasal ridge Restlessness Hypokalemic alkalosis Renal potassium wasting Congestive heart failure Insomnia Arrhythmia Paresthesia Hallucinations Chondrocalcinosis Nausea and vomiting Depressivity Hypokalemia Paralysis Hypercalciuria Nausea Abdominal pain Dehydration Abnormality of the skeletal system Alkalosis Peripheral neuropathy Hypotension Polyuria Hypomagnesemia Renal salt wasting Supraventricular tachycardia Constipation Ventricular arrhythmia Arthralgia Abnormality of the coagulation cascade Dilated cardiomyopathy Elevated hepatic transaminase Cleft palate Elevated serum creatine phosphokinase Ventricular tachycardia Ventricular extrasystoles Delayed puberty Splenomegaly Arthritis Anemia Clinodactyly Restrictive ventilatory defect Hypoxemia Tachypnea Hearing impairment Abnormal lung morphology Foam cells Alveolar proteinosis Crackles Osteolytic defects of the distal phalanges of the hand Small for gestational age Sensorineural hearing impairment Edema Polyhydramnios Sinus tachycardia Wide cranial sutures Premature birth Growth hormone deficiency Anorexia Hypocalcemia Nephrocalcinosis Arteriosclerosis Delayed closure of the anterior fontanelle Respiratory failure Salt craving Pneumonia Hyporeflexia of lower limbs Emotional lability Ventricular fibrillation Sensory axonal neuropathy Bowel incontinence Impaired vibration sensation in the lower limbs Impaired pain sensation Bipolar affective disorder Left bundle branch block Motor axonal neuropathy Acanthocytosis Tics Orofacial dyskinesia Excessive salivation Increased muscle fatiguability Respiratory distress Personality disorder Generalized limb muscle atrophy Impaired temperature sensation Abnormal social behavior Abnormal lactate dehydrogenase activity Caudate atrophy Abnormal corpus striatum morphology Progressive clavicular acroosteolysis Recurrent singultus Spotty hyperpigmentation Blood group antigen abnormality Abnormal facial expression Hyporeflexia of upper limbs Abnormality of the astrocytes Respiratory insufficiency Hypercalcemia Lipoatrophy Inflammatory abnormality of the skin Abnormal sclera morphology Secondary hyperaldosteronism Impaired reabsorption of chloride Abnormality of prostaglandin metabolism Generalized hypotonia Ataxia Erythema Flexion contracture Vertigo Nephropathy Postural instability Palpitations Hyperkinesis Hyperactive renin-angiotensin system Polydipsia Blurred vision Prolonged QT interval Episodic fever Hyperventilation Enuresis Tetany Periodic paralysis Pollakisuria Hypovolemia Nocturia Hypochloremia Scoliosis Hyperchloriduria Malar flattening Renal magnesium wasting Sparse eyelashes Reduced subcutaneous adipose tissue Bundle branch block Right bundle branch block Tricuspid regurgitation Atherosclerosis Glomerulonephritis Rickets Osteolysis Hyperkalemia Polycythemia Hyperaldosteronism Hyperphosphatemia Sparse and thin eyebrow Increased urinary potassium Insulin resistance Hypertriglyceridemia Pulmonary arterial hypertension Abnormality of the retinal vasculature Abnormality of the ribs Joint stiffness Proptosis Respiratory arrest Diabetes mellitus Osteoporosis Midface retrusion Personality changes Azotemia Abnormal choroid morphology Dystonia Obsessive-compulsive behavior Long philtrum Hyperinsulinemic hypoglycemia Small face Type I transferrin isoform profile Chronic hepatitis Decreased serum insulin-like growth factor 1 Reduced antithrombin III activity Increased intramyocellular lipid droplets Exercise-induced muscle fatigue Increased muscle glycogen content Cerebral venous thrombosis Type II transferrin isoform profile Abnormal protein glycosylation High palate Atrial septal defect Pectus excavatum Malignant hyperthermia Posteriorly rotated ears Upslanted palpebral fissure Thin upper lip vermilion Joint laxity Hypertrophic cardiomyopathy Intellectual disability, moderate Short philtrum Broad forehead Pulmonic stenosis Long face High, narrow palate Small hand Limb undergrowth Abnormality of the cardiovascular system Pierre-Robin sequence Exercise intolerance Aortic regurgitation Increased serum ferritin Low-set ears Brachydactyly Syndactyly Stroke Syncope Paroxysmal atrial fibrillation Thromboembolic stroke Myalgia Skin rash Pancytopenia Decreased liver function Lymphopenia Loss of consciousness Colitis Enterocolitis Hypogonadotrophic hypogonadism Disseminated intravascular coagulation Secretory diarrhea Diffuse alveolar hemorrhage Abnormal facial shape Intellectual disability, mild Prominent forehead Hypogonadism Hypothyroidism Hypoglycemia Cleft lip Abnormality of the liver Hepatic steatosis Bifid uvula Hepatitis Mitral valve prolapse Disproportionate tall stature Sleep apnea Rigidity Cognitive impairment Hepatomegaly Dysarthria Gait disturbance Dysphagia Myopathy Hypertonia Behavioral abnormality Cerebral atrophy Areflexia Babinski sign Dementia Hyperhidrosis Hepatosplenomegaly Mental deterioration Premature adrenarche Abnormality of the cerebral white matter Abnormality of movement Lower limb muscle weakness Hemolytic anemia Dyskinesia Sensory neuropathy Parkinsonism Chorea Memory impairment Neuronal loss in central nervous system Generalized-onset seizure Involuntary movements Left ventricular hypertrophy Sensorimotor neuropathy Porphyrinuria Dark urine Abnormal heart valve morphology Hypopigmentation of the skin Striae distensae Thromboembolism Endocarditis Tricuspid valve prolapse Asthenia Mastoiditis Bacterial endocarditis Quadricuspid aortic valve Reversed usual vertebral column curves Nystagmus Neoplasm Carcinoma Abnormality of the kidney Scarring Tetraplegia Motor polyneuropathy Abnormal blistering of the skin Psychosis Cutaneous photosensitivity Hypertrichosis Thin skin Aspiration Hypopigmented skin patches Chronic kidney disease Agitation Milia Fragile skin Hepatocellular carcinoma Visual hallucinations Neoplasm of the liver Abnormality of the forearm



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