Cardiomyopathy, and Neutropenia

Diseases related with Cardiomyopathy and Neutropenia

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


Top matches:

Low match HEMOCHROMATOSIS TYPE 3


Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 3 Is also known as tfr2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Cardiomyopathy
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 3

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 3


3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.

3-METHYLGLUTACONIC ACIDURIA TYPE 3 Is also known as optic atrophy, infantile, with chorea and spastic paraplegia|mga3|iraqi-jewish 'optic atrophy plus'|opa3, autosomal recessive|costeff syndrome|autosomal recessive optic atrophy type 3|optic atrophy 3, autosomal recessive|optic atrophy plus syndrome|autoso

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 3

Low match BONE MARROW FAILURE SYNDROME 4; BMFS4


BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative (summary by Bahrami et al., 2017).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 4; BMFS4

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Other less relevant matches:

Low match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-


Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 7


3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 7 Is also known as 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|mga7|mgca7|3-methylglutaconic aciduria, type vii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 7

Low match PROPIONIC ACIDEMIA


Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as glycinemia, ketotic|ketotic hyperglycinemia|propionyl-coa carboxylase deficiency|propionic aciduria|pcc deficiency|hyperglycinemia with ketoacidosis and leukopenia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROPIONIC ACIDEMIA

Low match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 1


3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Low match HERMANSKY-PUDLAK SYNDROME 1; HPS1


Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Low match BETA-THALASSEMIA MAJOR


Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.

BETA-THALASSEMIA MAJOR Is also known as cooley anemia|mediterranean anemia

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Cataract
  • Anemia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about BETA-THALASSEMIA MAJOR

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Neutropenia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Aciduria Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Neutropenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cataract Short stature Optic atrophy Dystonia Abnormality of movement Nystagmus Ataxia Intellectual disability Choreoathetosis Feeding difficulties Hepatomegaly Hearing impairment Microcephaly Thrombocytopenia Anorexia 3-Methylglutaconic aciduria Failure to thrive Immunodeficiency Hypoglycemia Stroke Lethargy Coma Cerebral atrophy Dysarthria Abdominal pain Visual impairment Arrhythmia Spasticity Encephalopathy

Rare Symptoms - Less than 30% cases


Pancreatitis Malabsorption Osteoporosis Diabetes mellitus Fever Metabolic acidosis Pancytopenia Myelodysplasia Hypothyroidism Dyspnea Developmental regression Hyperammonemia Hyperactivity Renal insufficiency Abnormality of the basal ganglia Growth delay Generalized hypotonia Eczema Dehydration Gastroesophageal reflux Visual loss Pallor Paraparesis Fatigue Arthralgia Elevated hepatic transaminase Cirrhosis Amenorrhea Lymphopenia Increased serum ferritin Cognitive impairment Hyperreflexia Gait ataxia Spastic paraplegia Paraplegia Abnormality of extrapyramidal motor function Acidosis Paresthesia Spastic paraparesis Abnormal facial shape Athetosis Abnormal bleeding Weight loss Thiamine-responsive megaloblastic anemia Photophobia Progressive visual loss Astigmatism Bruising susceptibility Memory impairment Hypopigmentation of the skin Gastrointestinal hemorrhage Paroxysmal atrial tachycardia Nevus Blindness Progressive peripheral neuropathy Epidermal acanthosis Epistaxis Progressive cerebellar ataxia Abnormal lung morphology Febrile seizures Thickened skin Hyperkeratosis Myopia Spastic tetraplegia Spastic tetraparesis Confusion Unsteady gait Neurodegeneration Skeletal myopathy Leukoencephalopathy Abnormality of the cerebral white matter Dilated cardiomyopathy Severe global developmental delay Tetraplegia Nonprogressive cerebellar ataxia Short attention span Testicular dysgenesis Urinary incontinence Dementia Limb ataxia Progressive forgetfulness Myopathy Motor delay Delayed speech and language development Strabismus Hyperchloremic acidosis Pain Long eyelashes Skin ulcer Depressed nasal bridge Abnormality of the dentition Depressivity Upslanted palpebral fissure Skeletal dysplasia Jaundice Anxiety Nyctalopia Delayed puberty Genu valgum Pulmonary arterial hypertension Venous thrombosis Freckles in sun-exposed areas Cholelithiasis Abnormality of the thorax Adrenal insufficiency Microcytic anemia Hypoparathyroidism Abnormality of the skull Cardiorespiratory arrest Neoplasm of the liver Abnormality of the hypothalamus-pituitary axis Abnormal hemoglobin Hypersplenism Monochromacy Muscle weakness Menometrorrhagia Amblyopia Colitis Abnormality of the hair Abnormality of dental enamel Acanthosis nigricans Melanoma Melanocytic nevus Inflammation of the large intestine Albinism Pulmonary fibrosis Basal cell carcinoma Restrictive ventilatory defect Prolonged bleeding time Freckling Partial albinism Hypopigmentation of hair Iris hypopigmentation Severe vision loss Gingival bleeding Abnormality of visual evoked potentials Ocular albinism Hematochezia Abnormality of the optic nerve Ulcerative colitis Abnormal thrombocyte morphology Impaired platelet aggregation Squamous cell carcinoma of the skin Sideroblastic anemia Acute encephalopathy Abdominal situs inversus Neonatal hypotonia Muscular hypotonia Respiratory distress Splenomegaly Nausea and vomiting Flexion contracture Dysphagia Cerebellar atrophy Myoclonus Respiratory failure Rigidity Abnormal pyramidal sign Agammaglobulinemia Attention deficit hyperactivity disorder Leukemia Gliosis Brain atrophy Increased serum lactate Neuronal loss in central nervous system Progressive neurologic deterioration Opisthotonus Myeloid leukemia Acute myeloid leukemia Noncompaction cardiomyopathy Upper limb undergrowth Dyslexia Chorea Arthritis Abnormality of the liver Hyperpigmentation of the skin Hypogonadotrophic hypogonadism Purpura Impotence Increased serum iron Gait disturbance Babinski sign Reduced visual acuity Horizontal nystagmus Neurodevelopmental delay Restlessness Low-set ears Abnormality of the skeletal system Midface retrusion Respiratory tract infection Dry skin Choanal atresia Gingival overgrowth Rhizomelia Leukopenia Recurrent upper respiratory tract infections Progressive encephalopathy Upper motor neuron dysfunction Megaloblastic anemia Retinal dystrophy Sensorineural hearing impairment Cryptorchidism Ventricular septal defect Atrial septal defect Diarrhea Congestive heart failure Headache Abnormal heart morphology Abnormal cardiac septum morphology Retinal degeneration Polyneuropathy Intolerance to protein Abnormality of the skin Bilateral sensorineural hearing impairment Situs inversus totalis Cardiac arrest Hoarse voice Aminoaciduria Cone/cone-rod dystrophy Polycystic ovaries Hyperglycemia Secondary amenorrhea Macrocytic anemia Propionicacidemia Propionyl-CoA carboxylase deficiency Dysgraphia Ischemic stroke Congenital neutropenia Vomiting Constipation Muscular hypotonia of the trunk Apnea Feeding difficulties in infancy Lactic acidosis Decreased antibody level in blood Overgrowth Tachypnea Abnormality of immune system physiology Increased level of hippuric acid in urine Poor appetite Limb hypertonia Ketosis Ketoacidosis Ketonuria Organic aciduria Methylmalonic aciduria Episodic vomiting Hyperglycinemia Hyperglycinuria Cerebellar hemorrhage Malar prominence



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