Cardiomyopathy, and Chronic myelogenous leukemia

Diseases related with Cardiomyopathy and Chronic myelogenous leukemia

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


Top matches:

Medium match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

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

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Other less relevant matches:

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 NOONAN SYNDROME 6; NS6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Low match NOONAN SYNDROME 3; NS3


Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Low match SICKLE CELL ANEMIA


Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.

SICKLE CELL ANEMIA Is also known as sickle cell disease

Related symptoms:

  • Intellectual disability
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SICKLE CELL ANEMIA

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 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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Chronic myelogenous leukemia

Symptoms // Phenotype % cases
Leukemia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Chronic myelogenous leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Hypertelorism Pulmonic stenosis Webbed neck Downslanted palpebral fissures Epicanthus Low-set ears Global developmental delay Respiratory failure Abnormal heart morphology Cryptorchidism Abnormal facial shape Cognitive impairment Delayed speech and language development Scoliosis

Rare Symptoms - Less than 30% cases


Edema Splenomegaly Hepatomegaly Transient myeloproliferative syndrome Limb-girdle muscular dystrophy EMG: myopathic abnormalities Muscular dystrophy Myeloid leukemia Myeloproliferative disorder Myopathy Microcephaly Cataract Night sweats Acute lymphoblastic leukemia Venous thrombosis Abnormality of the nervous system Nephropathy Anemia Hyperkeratosis Patent ductus arteriosus Ventricular septal defect Polyhydramnios Juvenile myelomonocytic leukemia Curly hair Relative macrocephaly Neoplasm Cafe-au-lait spot Renal insufficiency Pain Seizures Recurrent infections Growth delay Generalized hypotonia Rigidity Bone pain Atrial septal defect Mitral valve prolapse Glaucoma Hypertension Osteoporosis Attention deficit hyperactivity disorder Visual impairment Intellectual disability, mild Pruritus Hyperactivity Abnormality of the cardiovascular system Brain atrophy Bone marrow hypocellularity Hematuria Hemolytic anemia Hepatic failure Confusion Sepsis Chest pain Cardiomegaly Cough Cholestasis Cerebral palsy Recurrent bacterial infections Gliosis Retinopathy Tachypnea Cholelithiasis Neutropenia Leukocytosis Abnormality of movement Abnormal pyramidal sign Developmental regression Osteomyelitis Microcytic anemia Neonatal hypotonia Hypothyroidism Wheezing Stroke Jaundice Irritability Hypoplastic nasal bridge 3-Methylglutaconic aciduria Dysgraphia Posteriorly rotated ears Upper motor neuron dysfunction Craniosynostosis Dyslexia Dolichocephaly Deep philtrum Pterygium Cystic hygroma Progressive encephalopathy Scaphocephaly Acute myeloid leukemia Sagittal craniosynostosis Atrial septal dilatation Increased serum lactate Opisthotonus Dysplastic pulmonary valve Myelodysplasia Fever Fatigue Choreoathetosis Respiratory distress Progressive neurologic deterioration Abnormality of extrapyramidal motor function Pneumonia Neuronal loss in central nervous system Aciduria Abdominal pain Poor appetite Iron deficiency anemia Aseptic necrosis Flexion contracture Gonadoblastoma Dysfunction of lateral corticospinal tracts Displacement of the external urethral meatus Streak ovary Aplasia/Hypoplasia of the iris Abnormal vagina morphology Peters anomaly Abnormality of the uterus Short neck Hemihypertrophy Renal neoplasm Hearing abnormality Cerebellar atrophy Aniridia Nephroblastoma Failure to thrive Abnormal cardiac septum morphology Abnormality of the genital system Dysphagia Spasticity Ataxia Feeding difficulties Palmoplantar cutis laxa Chylothorax Graves disease Abnormality of the sternum Ventricular hypertrophy Pleural effusion Systemic lupus erythematosus Hyperextensible skin Hyperpigmentation of the skin Left ventricular hypertrophy Low posterior hairline Abnormality of the genitourinary system Ambiguous genitalia Reticulocytosis Left ventricular failure Unconjugated hyperbilirubinemia Chronic hemolytic anemia Hypochromic anemia Microalbuminuria Abnormal hemoglobin Abnormality of the spleen Hypoxemia Persistence of hemoglobin F Increased mean corpuscular volume Atelectasis Asplenia Elevated serum creatinine Abnormality of the vasculature Thrombocytosis Pure red cell aplasia Abnormal lactate dehydrogenase activity Microcornea Cerebral atrophy Everted lower lip vermilion Dystonia Corneal opacity Hypospadias Obesity Microphthalmia Micrognathia Increased lactate dehydrogenase activity Nystagmus Encephalopathy Myoclonus Increased red cell sickling tendency Pectus excavatum Priapism Pigment gallstones Abnormality of the skeletal system Short nose Pulmonary fibrosis Renal cell carcinoma Osteomalacia Multiple cafe-au-lait spots Freckling Tibial bowing Neurofibromas Hypophosphatemia Overweight Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Back pain Sarcoma Incoordination Severe vision loss Increased reactive oxygen species production Reduced bone mineral density Pheochromocytoma Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Paraganglioma Anomalous pulmonary venous return Complete atrioventricular canal defect Parathyroid adenoma Gangrene Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Meningioma Breast carcinoma Atherosclerosis Schwannoma Depressivity Osteopenia Kyphoscoliosis Autism Weight loss Peripheral neuropathy Visual loss Abnormality of cardiovascular system morphology Autistic behavior Dilatation Headache Behavioral abnormality Blindness Dysarthria Hydrocephalus Hypoglycemia Paralysis Spina bifida Specific learning disability Sensorimotor neuropathy Aganglionic megacolon Hypsarrhythmia Coarctation of aorta Tetralogy of Fallot Overgrowth Gastrointestinal hemorrhage Malabsorption Lymphoma Recurrent fractures Abnormality of skin pigmentation Peripheral axonal neuropathy Paresthesia Facial asymmetry Genu valgum Glioma Renal phosphate wasting Anteverted nares Proximal muscle weakness in lower limbs Weakness of long finger extensor muscles Quadriceps muscle weakness Ankle weakness Distal upper limb muscle weakness Increased muscle lipid content Peroneal muscle atrophy Centrally nucleated skeletal muscle fibers Sensorineural hearing impairment Rimmed vacuoles Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Steppage gait Foot dorsiflexor weakness Clumsiness Hearing impairment Motor delay Gait disturbance Bilateral ptosis Frontal bossing High palate Strabismus Long eyebrows Asymmetry of the thorax Broad neck Growth hormone deficiency Depressed nasal bridge Broad forehead Sparse hair High forehead Respiratory insufficiency Myopia Wide nasal bridge Difficulty walking Mastocytosis Lisch nodules Pseudoarthrosis Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Soft tissue sarcoma Neurofibrosarcoma Epigastric pain Dural ectasia Leiomyosarcoma Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Neuroma Optic nerve glioma Endocardial fibrosis Elevated serum creatine phosphokinase Restrictive cardiomyopathy Pulmonary infiltrates Eosinophilia Myalgia Distal muscle weakness Proximal muscle weakness Brow ptosis Subcutaneous neurofibromas Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Congenital neutropenia



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