Cardiomyopathy, and Acute myeloid leukemia

Diseases related with Cardiomyopathy and Acute myeloid leukemia

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


Top matches:

Medium 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

Medium match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Medium match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

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Other less relevant matches:

Medium match SHWACHMAN-DIAMOND SYNDROME


Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Low match WAGR SYNDROME


WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

Low match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J


Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J Is also known as lgmd2j|muscular dystrophy, limb-girdle, type 2j

Related symptoms:

  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Distal muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J

Low match CHRONIC EOSINOPHILIC LEUKEMIA


Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Myalgia
  • Abnormality of the nervous system
  • Pruritus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC EOSINOPHILIC LEUKEMIA

Low match TIBIAL MUSCULAR DYSTROPHY


Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.

TIBIAL MUSCULAR DYSTROPHY Is also known as distal myopathy, udd type|tardive tibial muscular dystrophy|finnish tibial muscular dystrophy|tmd|udd myopathy|distal titinopathy

Related symptoms:

  • Gait disturbance
  • Cardiomyopathy
  • Myopathy
  • Respiratory failure
  • Difficulty walking


SOURCES: ORPHANET OMIM MENDELIAN

More info about TIBIAL MUSCULAR DYSTROPHY

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Acute myeloid leukemia

Symptoms // Phenotype % cases
Leukemia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Acute myeloid leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Neoplasm Failure to thrive Myeloid leukemia Cryptorchidism Anemia Scoliosis Hypertelorism Ptosis Chromosome breakage Cafe-au-lait spot Postnatal growth retardation Epicanthus Hepatomegaly Micrognathia Atrial septal defect Hypertrophic cardiomyopathy Small for gestational age Aplastic anemia Acute monocytic leukemia Myelodysplasia Neutropenia Bone marrow hypocellularity Global developmental delay Recurrent infections Cataract

Rare Symptoms - Less than 30% cases


Abnormality of the genital system Hypopigmented skin patches Azoospermia Hyperpigmentation of the skin Short thumb Telangiectasia Abnormality of cardiovascular system morphology Gait disturbance Specific learning disability Type I diabetes mellitus Leukopenia Myopathy Lymphoma Ichthyosis Dolichocephaly Finger syndactyly Squamous cell carcinoma Short neck Pancytopenia Visual impairment Microphthalmia Renal insufficiency Hypospadias Patent ductus arteriosus Respiratory distress Abnormal heart morphology Abnormality of the skeletal system Abnormal facial shape Ventricular septal defect Nystagmus Nephroblastoma Acute lymphoblastic leukemia Abnormal cardiac septum morphology Ataxia Abnormality of chromosome stability Anal atresia Muscular dystrophy Thrombocytopenia EMG: myopathic abnormalities Immunodeficiency Respiratory failure Intrauterine growth retardation Hypothyroidism Hearing abnormality Intellectual disability, mild Aplasia/Hypoplasia of the iris Chromosomal breakage induced by crosslinking agents Abnormality of the uterus Generalized hypotonia Delayed skeletal maturation Clinodactyly of the 5th finger Diabetes mellitus Transient myeloproliferative syndrome Severe short stature Limb-girdle muscular dystrophy Ovoid vertebral bodies Complete duplication of thumb phalanx Partial duplication of thumb phalanx Steatorrhea Multiple lipomas Short thorax Neonatal respiratory distress Low-grade fever Exocrine pancreatic insufficiency Metaphyseal chondrodysplasia Meckel diverticulum Recurrent viral infections Duplicated collecting system Recurrent aphthous stomatitis Coxa vara Anterior rib cupping Metaphyseal sclerosis Persistence of hemoglobin F Paroxysmal nocturnal hemoglobinuria Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormal localization of kidney Metaphyseal widening Abnormality of the metaphysis Clubbing of toes Malabsorption Aplasia/Hypoplasia of fingers Pyridoxine-responsive sideroblastic anemia Abnormality of the preputium Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Osteopenia Skeletal dysplasia Respiratory tract infection Pectus carinatum Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Decreased fertility in males Narrow chest Compensated hypothyroidism Absent testis Carious teeth Generalized muscle weakness Sepsis Microdontia Eczema Hypoplastic anemia Apraxia Decreased liver function Short ribs Nephrocalcinosis Recurrent bacterial infections Elevated hepatic transaminase Abnormality of movement Enlargement of the costochondral junction Splenomegaly Restrictive cardiomyopathy Pulmonary infiltrates Eosinophilia Venous thrombosis Pruritus Abnormality of the nervous system Myalgia Distal muscle weakness Endocardial fibrosis Proximal muscle weakness Elevated serum creatine phosphokinase Palmoplantar cutis laxa Chylothorax Graves disease Curly hair Abnormality of the sternum Myeloproliferative disorder Mastocytosis Systemic lupus erythematosus Peroneal muscle atrophy Medulloblastoma Neuroblastoma Weakness of long finger extensor muscles Quadriceps muscle weakness Ankle weakness Distal upper limb muscle weakness Increased muscle lipid content Proximal muscle weakness in lower limbs Difficulty walking Centrally nucleated skeletal muscle fibers Rimmed vacuoles Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Steppage gait Foot dorsiflexor weakness Clumsiness Pleural effusion Hyperextensible skin Proximal femoral metaphyseal irregularity Nephropathy Hemihypertrophy Renal neoplasm Aniridia Abnormality of the genitourinary system Ambiguous genitalia Abnormal renal morphology Everted lower lip vermilion Corneal opacity Peters anomaly Glaucoma Obesity Irregular ossification at anterior rib ends Narrow sacroiliac notch Proximal femoral epiphysiolysis Metaphyseal dysostosis Myocardial necrosis Gonadoblastoma Abnormal vagina morphology Relative macrocephaly Hyperkeratosis Left ventricular hypertrophy Low posterior hairline Ventricular hypertrophy Abnormality of the cardiovascular system Webbed neck Pulmonic stenosis Polyhydramnios Edema Streak ovary Downslanted palpebral fissures Macrocephaly Delayed speech and language development Cognitive impairment Low-set ears Dysfunction of lateral corticospinal tracts Displacement of the external urethral meatus Microcornea Ectopic kidney Abnormal aortic valve morphology Sacral dimple IgA deficiency Telangiectasia of the skin Pulmonary fibrosis High pitched voice Hand polydactyly Reduced number of teeth Narrow face IgG deficiency Sinusitis Cerebral atrophy Bronchiectasis Abnormality of the face Hypertrichosis Cutaneous photosensitivity Type II diabetes mellitus Hodgkin lymphoma Acute leukemia Abnormality of the skin Spotty hypopigmentation Cerebellar atrophy Hearing impairment Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Female infertility Hypoplasia of the zygomatic bone Decreased fertility in females IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Hypoplastic pelvis Dystonia Otitis media Prominent nose Strabismus Abnormal pyramidal sign Upper motor neuron dysfunction Dyslexia Progressive encephalopathy Neonatal hypotonia Developmental regression Opisthotonus Choreoathetosis 3-Methylglutaconic aciduria Progressive neurologic deterioration Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Aciduria Increased serum lactate Brain atrophy Gliosis Dysgraphia Congenital neutropenia Decreased antibody level in blood Pneumonia Infertility Skin rash Erythema Protruding ear Polydactyly Hyperhidrosis Recurrent respiratory infections Syndactyly Rigidity Malar flattening Short nose Abnormality of the dentition Diarrhea Encephalopathy Myoclonus Hyperactivity Dysphagia Cleft palate Abnormality of the hypothalamus-pituitary axis Reduced bone mineral density Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Renal hypoplasia/aplasia Attention deficit hyperactivity disorder Cranial nerve paralysis Horseshoe kidney Seizures Hypergonadotropic hypogonadism Spina bifida Abnormal vertebral morphology Insulin resistance Hypoplasia of the ulna Hydroureter Aganglionic megacolon Arteriovenous malformation Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the upper limb B-cell lymphoma Abnormality of the ulna Absent thumb Abnormal eyelid morphology External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Multiple cafe-au-lait spots Recurrent urinary tract infections Choanal atresia Feeding difficulties Hydrocephalus Proptosis Weight loss Upslanted palpebral fissure Hypogonadism Headache Congestive heart failure Ventriculomegaly Pes planus Frontal bossing Fatigue Fever Hyperreflexia Spasticity Flexion contracture High palate Umbilical hernia Carcinoma Short palpebral fissure Vertigo Oligohydramnios Sloping forehead Tetralogy of Fallot Renal agenesis Hypopigmentation of the skin Bruising susceptibility Abnormality of skin pigmentation Astigmatism Abnormality of the eye Facial asymmetry Abnormality of the foot Toe syndactyly Hip dislocation Abnormality of the liver Irritability Abnormality of the kidney Embryonal neoplasm



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