Cardiomyopathy, and Bone marrow hypocellularity

Diseases related with Cardiomyopathy and Bone marrow hypocellularity

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


Top matches:

Medium 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

Medium match MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS


MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

Medium match CAMURATI-ENGELMANN DISEASE


Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive|engelmann disease|progressive diaphyseal dysplasia|dpd1|ced|pdd

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAMURATI-ENGELMANN DISEASE

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Medium match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

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

Medium match LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO


Legionnaire disease (LD) is a type of pneumonia caused by Legionella pneumophila, a flagellated gram-negative bacterium found primarily in warm water environments. The disease and the bacterium were discovered following an outbreak traced to a 1976 American Legion convention in Philadelphia. A number of risk factors for acquiring LD have been identified, including age, smoking, chronic lung disease, cancer, and immunosuppression (summary by Hawn et al., 2003).

Related symptoms:

  • Ataxia
  • Neoplasm
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO

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 MATERNALLY-INHERITED DIABETES AND DEAFNESS


Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Bone marrow hypocellularity

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Leukopenia Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cardiomyopathy and Bone marrow hypocellularity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly Short stature Abnormal facial shape Intellectual disability Renal insufficiency Respiratory distress Growth delay Immunodeficiency Diabetes mellitus Proteinuria Pancytopenia Fever Abnormal lung morphology Neoplasm Hypertrophic cardiomyopathy Failure to thrive Optic atrophy Headache Fatigue Hearing impairment Scoliosis Abnormality of the kidney Vomiting Congestive heart failure Skeletal dysplasia Muscle weakness Vertigo Cataract Lymphopenia Small for gestational age Hypothyroidism Recurrent infections Hypogonadism Intrauterine growth retardation Gait disturbance Hip dislocation Seizures Splenomegaly Abnormality of skin pigmentation Diarrhea Abnormality of the skeletal system Malabsorption Microcephaly Aplastic anemia Neutropenia

Rare Symptoms - Less than 30% cases


Sepsis Peripheral neuropathy Ovoid vertebral bodies Glomerulopathy Leukemia Multiple cafe-au-lait spots Dysarthria Steatorrhea Ventriculomegaly Encephalitis Reduced bone mineral density B-cell lymphoma Visual impairment Cognitive impairment Cryptorchidism Myalgia Ptosis Strabismus Nystagmus Pancreatitis Generalized hypotonia Abnormality of femur morphology Abnormality of the ulna Aplasia/Hypoplasia of the radius Anorexia Lumbar hyperlordosis Waddling gait Nausea and vomiting Type I diabetes mellitus Severe short stature Ectopic kidney Acute myeloid leukemia Pneumonia Myeloid leukemia Stroke Astigmatism Stage 5 chronic kidney disease Nephropathy Hypertension Migraine Chronic lung disease Myelodysplasia Abnormality of lipid metabolism Acute monocytic leukemia High pitched voice Azoospermia Hypergonadotropic hypogonadism Lymphoma Insulin resistance Apraxia Sloping forehead Pigmentary retinopathy Decreased testicular size Renal agenesis Microdontia Retinopathy Postnatal growth retardation Respiratory insufficiency Arrhythmia Osteopenia Sensory neuropathy Sensorineural hearing impairment Carious teeth Focal segmental glomerulosclerosis Mandibular prognathia Proptosis Kyphosis Pain Pulmonary infiltrates Flexion contracture Epicanthus Hyperreflexia Short neck Atrial septal defect Glomerulosclerosis Dilated cardiomyopathy Patent ductus arteriosus Coarse hair Abnormal heart morphology Hepatosplenomegaly Respiratory tract infection Abnormal pyramidal sign Pectus carinatum Brain atrophy Synophrys Abnormality of the foot Pes planus Frontal bossing Neurological speech impairment Hyperlordosis Abnormality of the dentition Abnormal globus pallidus morphology Abnormality of blood and blood-forming tissues Postural instability Aciduria Dehydration Abnormality of cardiovascular system morphology Hypospadias Clinodactyly of the 5th finger Upslanted palpebral fissure Tetraparesis Coma Weight loss Umbilical hernia Carcinoma Absent thumb Hydroureter Squamous cell carcinoma Choreoathetosis Hypoplasia of the ulna Absent radius External ear malformation Irregular hyperpigmentation Abnormality of the thumb Abnormal localization of kidney Abnormal renal morphology Lethargy Metabolic acidosis Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Bicornuate uterus High palate Abnormality of the testis Abnormality of the eye Abnormality of the uterus Abnormality of the upper limb Chronic metabolic acidosis Arteriovenous malformation Abnormal eyelid morphology Chromosome breakage Hearing abnormality Hydrocephalus Microphthalmia Glucose intolerance Irritability Bruising susceptibility Abnormality of the genital system Delayed CNS myelination Organic aciduria Abnormal vertebral morphology Methylmalonic aciduria Short thumb Cafe-au-lait spot Telangiectasia Recurrent urinary tract infections Aganglionic megacolon Choanal atresia Facial asymmetry Short palpebral fissure Homocystinuria Hyperglycinemia Methylmalonic acidemia Tubulointerstitial abnormality Oligohydramnios Tetralogy of Fallot Hypopigmentation of the skin Anal atresia Spina bifida Horseshoe kidney Abnormality of the liver Cerebellar hemorrhage Paraparesis Spastic tetraparesis Hyperammonemia Tracheoesophageal fistula Triphalangeal thumb Ischemic stroke Macrocytic anemia Tubulointerstitial nephritis Abnormal cardiac septum morphology Hyperinsulinemia Ketonuria Reticulocytopenia Finger syndactyly Abnormality of the urinary system Abnormality of vision Hypopigmented skin patches Dolichocephaly Toe syndactyly Renal hypoplasia/aplasia Cranial nerve paralysis Abnormality of chromosome stability Dystonia Abnormal aortic morphology Reduced consciousness/confusion Narrow chest Elevated hepatic transaminase Delayed skeletal maturation Irregular ossification at anterior rib ends Intellectual disability, mild Myopathy Endocarditis Chills Abnormality of the pleura Recurrent pharyngitis Myocarditis Ichthyosis Hemoptysis Pericarditis Cellulitis Restrictive ventilatory defect Hyponatremia Shock Hallucinations Hepatitis Hypotension Chest pain Constipation Narrow sacroiliac notch Generalized muscle weakness Ophthalmoplegia Exocrine pancreatic insufficiency Paroxysmal nocturnal hemoglobinuria Proximal femoral metaphyseal irregularity Persistence of hemoglobin F Metaphyseal sclerosis Myocardial necrosis Metaphyseal dysostosis Anterior rib cupping Metaphyseal chondrodysplasia Recurrent aphthous stomatitis Recurrent viral infections Multiple lipomas Specific learning disability Short thorax Neonatal respiratory distress Metaphyseal widening Coxa vara Recurrent bacterial infections Nephrocalcinosis Short ribs Decreased liver function Abnormality of the metaphysis Proximal femoral epiphysiolysis Eczema Micrognathia Unsteady gait Abnormality of nervous system morphology Clubbing of toes Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Progressive sensorineural hearing impairment Chromosomal breakage induced by crosslinking agents Retinal atrophy Decreased fertility in males Left bundle branch block Abnormal chorioretinal morphology Anemic pallor Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Muscular hypotonia Enlargement of the costochondral junction Acidosis Duplicated collecting system Duodenal stenosis Primary hypothyroidism Prolonged G2 phase of cell cycle Deficient excision of UV-induced pyrimidine dimers in DNA Retinal degeneration Jaundice Bilateral sensorineural hearing impairment Hematuria Type II diabetes mellitus Nausea Lymphadenopathy External ophthalmoplegia Ragged-red muscle fibers Confusion Constriction of peripheral visual field Cough Aplasia/Hypoplasia of the cerebellum Arthralgia Abnormal retinal morphology Respiratory failure Hyperglycemia Bundle branch block Abdominal pain Vestibular dysfunction Macular dystrophy Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Cleft palate Bulbous nose Hypertelorism Cachexia Facial paralysis Raynaud phenomenon Gangrene Abnormality of the skull Poor appetite Abnormality of the vertebral column Metaphyseal dysplasia Elevated erythrocyte sedimentation rate Reduced subcutaneous adipose tissue Hyperostosis Abnormality of pelvic girdle bone morphology Abnormality of tibia morphology Easy fatigability Tinnitus Increased intracranial pressure Coxa valga Vasculitis Increased bone mineral density Bone pain Diplopia Limitation of joint mobility Delayed eruption of teeth Genu valgum Slender build Extramedullary hematopoiesis Muscular dystrophy Craniofacial osteosclerosis Hernia Midface retrusion Long philtrum Hypoplasia of the corpus callosum Tremor Delayed speech and language development Elevated aldolase level Abnormal subcutaneous fat tissue distribution Cortical thickening of long bone diaphyses Cortical sclerosis Optic nerve compression Otosclerosis Diaphyseal dysplasia Diaphyseal sclerosis Cranial nerve compression Abnormality of the radius Limb pain Cranial hyperostosis Sclerosis of skull base Lower limb pain Abnormal diaphysis morphology Urinary retention Abnormality of the humerus Delayed puberty Paralysis Clinodactyly Toenail dysplasia Telecanthus Coarse facial features Prominent forehead Recurrent respiratory infections Pectus excavatum Wide nasal bridge Spasticity Reticulated skin pigmentation Ridged fingernail Urethral stricture Esophageal stricture Wide nose Aseptic necrosis Premature graying of hair Pulmonary fibrosis Palmoplantar hyperkeratosis Hepatic fibrosis Chronic diarrhea Nail dysplasia Nail dystrophy Hyperkeratosis Osteoporosis Cerebellar hypoplasia Hirsutism Thick vermilion border Feeding difficulties in infancy Acetabular dysplasia Facial palsy Abnormality of the nervous system Proximal muscle weakness Difficulty walking Glaucoma Hyperactivity Skeletal muscle atrophy Hypoplastic acetabulae Obstructive lung disease J-shaped sella turcica Macrovesicular hepatic steatosis Flared iliac wings Hepatic steatosis Large forehead Beaking of vertebral bodies Dysostosis multiplex Tubular atrophy Barrel-shaped chest Joint contracture of the hand Thickened skin Long eyelashes Cerebral calcification Delayed myelination Macroglossia Obesity Inguinal hernia Lateral displacement of the femoral head Atherosclerosis Hypermelanotic macule Combined immunodeficiency Emphysema Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Glomerulonephritis Epiphyseal dysplasia Chronic kidney disease Hyperlipidemia Opacification of the corneal stroma Abnormality of the vasculature Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Fine hair Intellectual disability, profound Nephrotic syndrome Premature birth Gliosis Abnormal cerebellum morphology Platyspondyly Corneal opacity Protuberant abdomen Transient ischemic attack Scarring Multiple lentigines Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Mucopolysacchariduria Thoracic kyphosis Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder Disproportionate short-trunk short stature Autoimmunity Developmental regression Babinski sign Falls Renal hypoplasia Epidermal acanthosis Hypotelorism Bradykinesia Limb undergrowth Convex nasal ridge Progressive cerebellar ataxia Broad nasal tip Triangular face Polyneuropathy Long face Broad-based gait Dysmetria Hypermetropia Prominent nasal bridge Short philtrum Attention deficit hyperactivity disorder Sparse hair Rigidity Deeply set eye High forehead Micropenis Pes cavus Cutaneous photosensitivity Short chin Thin upper lip vermilion Low hanging columella Dementia Cerebellar atrophy Myopia Motor delay Depressed nasal bridge Long neck Gastrointestinal stroma tumor Multinodular goiter Glioma Shuffling gait Misalignment of teeth Increased circulating gonadotropin level Acanthosis nigricans Cerebellar vermis atrophy Long nose Truncal obesity Cortical gyral simplification Sensory axonal neuropathy Bilateral cryptorchidism Unilateral renal agenesis Postural tremor Dysdiadochokinesis Slurred speech Goiter Metabolic ketoacidosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Otitis media, related diseases and genetic alterations Myopia and Dry skin, related diseases and genetic alterations Fever and Hodgkin lymphoma, related diseases and genetic alterations Ptosis and Joint hypermobility, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more