Cardiomyopathy, and Thrombocytopenia

Diseases related with Cardiomyopathy and Thrombocytopenia

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


Top matches:

Low match PLATELET GLYCOPROTEIN IV DEFICIENCY


PLATELET GLYCOPROTEIN IV DEFICIENCY Is also known as cd36 deficiency|bdplt10|bleeding disorder, platelet-type, 10

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Thrombocytopenia
  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy


SOURCES: OMIM MESH MENDELIAN

More info about PLATELET GLYCOPROTEIN IV DEFICIENCY

Low match HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1


Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

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 BETA-THALASSEMIA


Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the reduced synthesis of beta-globin chains relative to alpha-globin chains, thus causing an imbalance in globin chain production and hence abnormal erythropoiesis. The disorder is clinically heterogeneous (summary by Ottolenghi et al., 1975).Absence of beta globin causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. For clinical purposes, beta-thalassemia is divided into thalassemia major (transfusion dependent), thalassemia intermedia (of intermediate severity), and thalassemia minor (asymptomatic, carrier state). The molecular and clinical aspects of the beta-thalassemias were reviewed by Olivieri (1999).The remarkable phenotypic diversity of the beta-thalassemias reflects the heterogeneity of mutations at the HBB locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors (Weatherall, 2001).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Anemia
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about BETA-THALASSEMIA

Low match NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS


NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2


Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, pulmonary and liver fibrosis, and premature graying of the hair (summary by Armanios et al., 2005).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2

Low match ACYL-COA DEHYDROGENASE 9 DEFICIENCY


Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.

ACYL-COA DEHYDROGENASE 9 DEFICIENCY Is also known as acyl-coa dehydrogenase 9 deficiency|acad9 deficiency

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ACYL-COA DEHYDROGENASE 9 DEFICIENCY

Low match METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY


Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Thrombocytopenia

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Feeding difficulties Hepatomegaly Acidosis Coma Stroke Renal insufficiency Fever Dystonia Hyperammonemia Dehydration Neutropenia Dilated cardiomyopathy Leukopenia Osteoporosis Muscular hypotonia Hypertrophic cardiomyopathy Muscle weakness Encephalopathy Optic atrophy Growth delay Hypoglycemia Short stature Immunodeficiency Pancreatitis Lethargy Metabolic acidosis Diarrhea Lactic acidosis Cerebellar hemorrhage

Rare Symptoms - Less than 30% cases


Abnormality of the skeletal system Pancytopenia Microcephaly Aciduria Postural instability Fatigue Recurrent infections Vomiting Eczema Respiratory insufficiency Choreoathetosis Respiratory distress Splenomegaly Nausea and vomiting Hypertension Ataxia Cerebral atrophy Purpura Ischemic stroke Stage 5 chronic kidney disease Ketonuria Increased serum lactate Organic aciduria Muscular hypotonia of the trunk Methylmalonic aciduria Cognitive impairment Hyperglycinemia Limb hypertonia Neurological speech impairment Hypertriglyceridemia Edema Nephropathy Aplastic anemia Hepatic failure Hepatic steatosis Diffuse cerebral atrophy Abnormality of the dentition Mitochondrial encephalopathy Multifocal seizures Epileptic spasms Generalized muscle weakness Sudden cardiac death Ventricular hypertrophy Left ventricular hypertrophy Decreased liver function Cerebellar hypoplasia Myalgia Hyperkeratosis Bone marrow hypocellularity Aseptic necrosis Premature graying of hair Esophageal stricture Pulmonary fibrosis Palmoplantar hyperkeratosis Toenail dysplasia Urethral stricture Ridged fingernail Reticulated skin pigmentation Myopathy Nail dystrophy Congestive heart failure Depressivity Patent ductus arteriosus Elevated hepatic transaminase Hepatic fibrosis Chronic diarrhea Nail dysplasia Abnormality of skin pigmentation Pulmonary infiltrates Exercise intolerance Proximal tubulopathy Infantile muscular hypotonia Overgrowth Tubulointerstitial abnormality Abnormal globus pallidus morphology Chronic metabolic acidosis Metabolic ketoacidosis Arrhythmia Constipation Apnea Feeding difficulties in infancy Developmental regression Decreased antibody level in blood Tachypnea Homocystinuria Abnormality of immune system physiology Poor appetite Ketosis Ketoacidosis Episodic vomiting Acute encephalopathy Hyperglycinuria Increased level of hippuric acid in urine Propionyl-CoA carboxylase deficiency Intolerance to protein Methylmalonic acidemia Delayed CNS myelination EMG: myopathic abnormalities Dicarboxylic aciduria Fatigable weakness Acute hepatic failure Severe lactic acidosis Generalized edema Decreased plasma carnitine Cerebral edema Prolonged prothrombin time Brisk reflexes Microvesicular hepatic steatosis Decreased activity of mitochondrial respiratory chain Macrovesicular hepatic steatosis Tubulointerstitial nephritis Decreased activity of mitochondrial complex I Nonketotic hypoglycemia Elevated creatine kinase after exercise Increased lactate dehydrogenase activity Elevated plasma acylcarnitine levels Diabetes mellitus Abnormality of the kidney Tetraparesis Paraparesis Spastic tetraparesis Macrocytic anemia Generalized amyotrophy Delayed speech and language development Athetosis Cataract Abnormal lactate dehydrogenase activity Schistocytosis Decreased serum complement C3 Decreased serum complement factor B Abnormality of complement system Decreased serum complement factor I Decreased serum complement factor H Decreased level of thrombomodulin Hearing impairment Abnormal facial shape Low-set ears Microangiopathic hemolytic anemia Midface retrusion Respiratory tract infection Dry skin Choanal atresia Gingival overgrowth Rhizomelia Lymphopenia Recurrent upper respiratory tract infections Neurodevelopmental delay Upper limb undergrowth Azotemia Anuria Noncompaction cardiomyopathy Hemolytic anemia Abnormal bleeding Insulin resistance Spontaneous abortion Prolonged bleeding time Abnormality of the endocrine system Asymmetric septal hypertrophy Macrothrombocytopenia Giant platelets Abnormality of metabolism/homeostasis Proteinuria Hematuria Increased blood urea nitrogen Hemiparesis Hyperlipidemia Dysphasia Abnormality of blood and blood-forming tissues Acute kidney injury Reticulocytosis Elevated serum creatinine Enterocolitis Hemolytic-uremic syndrome Complement deficiency Agammaglobulinemia Dysarthria Leukoencephalopathy Cerebellar atrophy Abnormality of iron homeostasis Reduced beta/alpha synthesis ratio Nystagmus Spasticity Visual impairment Hyperreflexia Intrauterine growth retardation Skeletal muscle atrophy Tremor Ventriculomegaly Hypertonia Hypochromic anemia Absent speech Rod-cone dystrophy Rigidity Aggressive behavior Dysmetria Tetraplegia Delayed myelination Spastic tetraplegia Amblyopia Exotropia Abnormality of temperature regulation Abnormal hemoglobin Abdominal pain Hypogonadotrophic hypogonadism Abnormality of movement Anorexia Delayed skeletal maturation Osteopenia Jaundice Hepatosplenomegaly Irritability Pallor Hepatitis Skin ulcer Venous thrombosis Portal fibrosis Reduced bone mineral density Cholelithiasis Microcytic anemia Osteomalacia Abnormality of the skull Anisocytosis Anemia of inadequate production Poikilocytosis Hypochromic microcytic anemia Decreased mean corpuscular volume Propionicacidemia



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