Anemia, and Ventricular hypertrophy

Diseases related with Anemia and Ventricular hypertrophy

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


Top matches:

Low match COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY


Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).

COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY Is also known as mst1 deficiency|cid due to stk4 deficiency|stk4 deficiency

Related symptoms:

  • Anemia
  • Atrial septal defect
  • Immunodeficiency
  • Lymphadenopathy
  • Hemolytic anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY

Low match HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION


Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.

HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION Is also known as hypertrophic cardiomyopathy and renal tubular disease due to mtdna mutation

Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION

Low match TANGIER DISEASE


Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.

TANGIER DISEASE Is also known as defective adenosine triphosphate-binding cassette transporter a1|analphalipoproteinemia|atp-binding cassette transporter a1 deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Abdominal pain
  • Hepatosplenomegaly
  • Distal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about TANGIER DISEASE

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Other less relevant matches:

Low match HYPERURICEMIA-PULMONARY HYPERTENSION-RENAL FAILURE-ALKALOSIS SYNDROME


Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is a rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia.

HYPERURICEMIA-PULMONARY HYPERTENSION-RENAL FAILURE-ALKALOSIS SYNDROME Is also known as hupra syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERURICEMIA-PULMONARY HYPERTENSION-RENAL FAILURE-ALKALOSIS SYNDROME

Low match MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2


Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013).For a discussion of genetic heterogeneity of MLASA, see MLASA1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2

Low match TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

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 TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY


Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY Is also known as epidermolysis bullosa simplex and limb-girdle muscular dystrophy|md-ebs|ebs-md|mdebs|limb-girdle muscular dystrophy with epidermolysis bullosa simplex

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis
  • Anemia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY

Low match BLACKFAN-DIAMOND ANEMIA


Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Top 5 symptoms//phenotypes associated to Anemia and Ventricular hypertrophy

Symptoms // Phenotype % cases
Growth delay Uncommon - Between 30% and 50% cases
Left ventricular hypertrophy Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Ventricular hypertrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness Dyspnea Arrhythmia Patent ductus arteriosus Ventricular septal defect Intrauterine growth retardation Atrial septal defect Hepatosplenomegaly Myopathy Cardiomyopathy Thrombocytopenia

Rare Symptoms - Less than 30% cases


Global developmental delay Feeding difficulties Nail dystrophy Respiratory failure Generalized hypotonia Areflexia Ptosis Elevated hepatic transaminase Fatigue Cirrhosis Progressive muscle weakness Congestive heart failure Thin vermilion border Tetralogy of Fallot Splenomegaly Elevated serum creatine phosphokinase Dilated cardiomyopathy Ragged-red muscle fibers Dysphagia Proteinuria Hemolytic anemia Hypertrophic cardiomyopathy Renal insufficiency Patent foramen ovale Right ventricular hypertrophy Diabetes mellitus Neutropenia Abnormality of the kidney Cleft soft palate Wide mouth Hydronephrosis Increased mean corpuscular volume Edema Delayed puberty Depressed nasal bridge Low-set ears Abnormal facial shape Abnormality of the astrocytes Hyporeflexia of upper limbs Abnormal facial expression Blood group antigen abnormality Recurrent singultus Short philtrum Triangular face Small for gestational age Telangiectasia Situs inversus totalis Hydrops fetalis Decreased liver function Wide anterior fontanel Macrocytic anemia Tracheomalacia Hepatic fibrosis Pancytopenia Synophrys Acute leukemia Esophagitis Coarctation of aorta Oligohydramnios Asthma Abnormal bleeding Caudate atrophy Abnormal corpus striatum morphology Personality disorder Abnormal lactate dehydrogenase activity Ventricular arrhythmia Reticulocytopenia Sensory axonal neuropathy Ventricular fibrillation Emotional lability Personality changes Obsessive-compulsive behavior Fetal distress Rhabdomyolysis Sleep apnea Cardiac arrest Sensorimotor neuropathy Hallucinations Involuntary movements Atrial fibrillation Generalized-onset seizure Bowel incontinence Impaired vibration sensation in the lower limbs Abnormal social behavior Tics Impaired temperature sensation Generalized limb muscle atrophy Deep philtrum Increased muscle fatiguability Hyporeflexia of lower limbs Excessive salivation Orofacial dyskinesia Acanthocytosis Impaired pain sensation Supraventricular tachycardia Motor axonal neuropathy Left bundle branch block Ventricular extrasystoles Bipolar affective disorder Insomnia Restlessness Cutis laxa Premature skin wrinkling Poor suck Aplasia/Hypoplasia of the skin Hypoplastic fingernail Echolalia Nemaline bodies Severe postnatal growth retardation Lipoma Fatigable weakness Skin vesicle Oculomotor nerve palsy Milia Dysphasia Migraine Aphasia Mitral valve prolapse Keratitis Neonatal respiratory distress Increased connective tissue Scarring alopecia of scalp Abnormality of mitochondrial metabolism Cleft palate Autistic behavior Pallor Cleft lip Retrognathia Autism Osteoporosis Short nose Micrognathia Hyperconvex fingernails Neoplasm Hypertelorism Punctate keratitis Bifid uvula Decreased miniature endplate potentials Urethral stricture Muscle flaccidity Ophthalmoparesis Dermal atrophy Clitoral hypertrophy Increased serum bile acid concentration Short thumb Melanoma Alopecia Abnormality of the urinary system Abnormality of the hand Abnormality of glutamine metabolism Abnormality of the clitoris Pneumonia Infra-orbital crease Triphalangeal thumb Functional respiratory abnormality Micronodular cirrhosis Biventricular hypertrophy Cleft upper lip Dextrocardia Abnormality of the genital system Facial palsy Palmoplantar hyperkeratosis Carious teeth Mutism Ventricular tachycardia Abnormality of dental enamel Hypoplasia of dental enamel Abnormal blistering of the skin Nail dysplasia Tachycardia Ophthalmoplegia Memory impairment Thick lower lip vermilion Hypotrichosis Papule Depressed nasal ridge Mitral regurgitation Muscular dystrophy Scarring Neuronal loss in central nervous system Hypertonia Chorea Accelerated atherosclerosis Pulmonary arterial hypertension Premature birth Hypertension Orange discoloured tonsils Impaired thermal sensitivity Carotid artery stenosis Coronary artery stenosis Chronic kidney disease Progressive peripheral neuropathy Chronic noninfectious lymphadenopathy Hypocholesterolemia Facial diplegia Syringomyelia Ectropion Hypertriglyceridemia Leukopenia Hyponatremia Dry skin Scoliosis Hypoplasia of the corpus callosum Respiratory insufficiency Skeletal muscle atrophy Motor delay Strabismus Nystagmus Hypochloremic metabolic alkalosis Polyuria Type 2 muscle fiber atrophy Hyperechogenic kidneys Metabolic alkalosis Alkalosis Renal salt wasting Hypomagnesemia Hyperuricemia Peripheral axonal neuropathy Corneal opacity Muscular hypotonia of the trunk Autoimmune hemolytic anemia Pulmonary insufficiency Lymphoproliferative disorder Verrucae Recurrent viral infections B-cell lymphoma Chronic mucocutaneous candidiasis Increased antibody level in blood Hearing impairment Combined immunodeficiency Recurrent bacterial infections Lymphopenia Inflammatory abnormality of the skin Lymphoma Lymphadenopathy Immunodeficiency Recurrent fungal infections Sensorineural hearing impairment Distal muscle weakness Abnormal renal physiology Abdominal pain Abnormal mitochondrial number Global glomerulosclerosis Abnormal mitochondrial shape Abnormal mitochondrial morphology Peripheral edema Tubulointerstitial fibrosis Increased CSF lactate Headache Tubular atrophy Glomerulopathy Focal segmental glomerulosclerosis Pleural effusion Cardiomegaly Hematuria Nephropathy Acidosis Lethargy Parkinsonism Endocarditis Cognitive impairment Seizures Absence of the pulmonary valve Tetralogy of Fallot with absent pulmonary valve Pulmonary valve atresia Overriding aorta Abnormal nasal morphology Dysarthria Right ventricular failure Interrupted aortic arch Breathing dysregulation Pulmonary artery atresia Truncus arteriosus Double outlet right ventricle Hyperventilation Peripheral neuropathy Gait disturbance Underdeveloped supraorbital ridges Mental deterioration Sensory neuropathy Dyskinesia Paresthesia Confusion Lower limb muscle weakness Abnormality of movement Abnormality of the cerebral white matter Anxiety Behavioral abnormality Rigidity Hyperhidrosis Dementia Babinski sign Depressivity Cerebral atrophy Dystonia Poor appetite Polycythemia Lactic acidosis Generalized amyotrophy Brachydactyly Cryptorchidism Sideroblastic anemia Proximal tubulopathy Skeletal myopathy Ketosis Abnormality of the coagulation cascade Abnormality of cardiovascular system morphology Hyperammonemia Tachypnea Shock Respiratory insufficiency due to muscle weakness Exercise intolerance Increased serum lactate Metabolic acidosis Respiratory distress Clinodactyly Preauricular pit Pulmonic stenosis Heart murmur Clubbing Easy fatigability Increased body weight Sinusitis Hemiparesis Cyanosis Dolichocephaly Abnormal heart morphology Broad forehead Abnormal cardiac septum morphology Paralysis Respiratory tract infection Proptosis Recurrent respiratory infections Clinodactyly of the 5th finger Persistence of hemoglobin F



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