Cardiomyopathy, and Sarcoma

Diseases related with Cardiomyopathy and Sarcoma

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


Top matches:

Low match MULIBREY NANISM


MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Low match SOTOS SYNDROME 3; SOTOS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Low match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

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Other less relevant matches:

Low match ASPARTYLGLUCOSAMINURIA; AGU


Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

Low match BECKWITH-WIEDEMANN SYNDROME; BWS


Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

Low 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 NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Low match NOONAN SYNDROME


Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Sarcoma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Overgrowth Polyhydramnios Macrocephaly Coarse facial features Hypertelorism Generalized hypotonia Neoplasm Cryptorchidism Global developmental delay Hearing impairment Scoliosis Macroglossia Broad forehead Wide mouth Hyperactivity Abnormality of cardiovascular system morphology Hepatosplenomegaly Edema High palate Muscular hypotonia Proptosis Strabismus Hernia Splenomegaly Brachydactyly Nephrolithiasis Nystagmus Sensorineural hearing impairment Cataract Hypertension Nephroblastoma Patent ductus arteriosus Myopia Downslanted palpebral fissures Abnormality of the skeletal system Dilatation Neurofibrosarcoma Thick lower lip vermilion Hypoglycemia Umbilical hernia Ptosis Triangular face Cognitive impairment Large for gestational age Growth delay Visceromegaly Feeding difficulties Depressed nasal bridge Dysarthria Hydronephrosis Rhabdomyosarcoma Pulmonic stenosis Congestive heart failure Neuroblastoma Hypogonadism Abnormal heart morphology Midface retrusion Accelerated skeletal maturation Kyphoscoliosis Coarctation of aorta Pain Intellectual disability, mild Atrial septal defect Abdominal distention Joint hypermobility Arnold-Chiari malformation Short neck

Rare Symptoms - Less than 30% cases


Schwannoma Posteriorly rotated ears Adrenocortical carcinoma Respiratory insufficiency Intellectual disability, severe Hepatoblastoma Posterior helix pit Leiomyosarcoma Adrenocortical cytomegaly Attention deficit hyperactivity disorder Aortic root aneurysm Polydactyly Postnatal growth retardation Delayed speech and language development Lymphedema Amblyopia Blindness Behavioral abnormality Gastroesophageal reflux Low-set, posteriorly rotated ears Low posterior hairline Sparse hair Clinodactyly Visual loss Delayed skeletal maturation Wide intermamillary distance Myoclonus Webbed neck Dental malocclusion High forehead Abnormal bleeding High, narrow palate Constipation Microcephaly Facial asymmetry Growth abnormality Reduced factor XII activity Superior pectus carinatum Thick vermilion border Amegakaryocytic thrombocytopenia Multiple lentigines Gingival overgrowth Synovitis Shield chest Intellectual disability, progressive Hemihypertrophy Mitral regurgitation Male infertility Cystic hygroma Micrognathia Epicanthus Cubitus valgus Ventricular septal defect Failure to thrive in infancy Thrombocytopenia Pectus excavatum Gonadoblastoma Bruising susceptibility Diastasis recti Mandibular prognathia Omphalocele Cardiomegaly Tibial bowing Mitral valve prolapse Ascites Vesicoureteral reflux Neurological speech impairment Feeding difficulties in infancy Hypothyroidism Headache Autism Inguinal hernia Cafe-au-lait spot Cleft palate Nonimmune hydrops fetalis Hypoplastic frontal sinuses Pulmonary fibrosis Myocardial fibrosis Neurofibromas Large fontanelles Nevus Tetralogy of Fallot Enlarged kidney Failure to thrive Intrauterine growth retardation Prominent metopic ridge Depressivity Leukemia Prominent occiput Motor delay Wide nasal bridge Neonatal hypoglycemia Delayed puberty Melanocytic nevus Nevus flammeus Hypercalciuria Intellectual disability, moderate Tibial pseudoarthrosis Breast carcinoma Vomiting Incoordination Back pain Fever Precocious puberty Brow ptosis Clitoral hypertrophy Low-set ears Sensorimotor neuropathy Reduced bone mineral density Rod-cone dystrophy Abdominal pain Specific learning disability Gastrointestinal hemorrhage Lymphoma Recurrent fractures Sensory axonal neuropathy Hypsarrhythmia Venous thrombosis Abnormality of skin pigmentation Peripheral axonal neuropathy Aganglionic megacolon Bone pain Abnormality of the cardiovascular system Spina bifida Atherosclerosis Cerebral artery stenosis Renal cell carcinoma Arterial fibromuscular dysplasia Anomalous pulmonary venous return Astrocytoma Aqueductal stenosis Pseudoarthrosis Soft tissue sarcoma Epigastric pain Parathyroid adenoma Pheochromocytoma Complete atrioventricular canal defect Dural ectasia Night sweats Neoplasm of the endocrine system Fibular bowing Paraganglioma Abnormal cardiac septum morphology Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Nasolacrimal duct obstruction Chronic myelogenous leukemia Renal phosphate wasting Brain neoplasm Meningioma Spinal neurofibromas Optic nerve glioma Inguinal freckling Hypophosphatemia Plexiform neurofibroma Acute promyelocytic leukemia Freckling Multiple cafe-au-lait spots Osteomalacia Subcutaneous neurofibromas Glioma Severe vision loss Single ventricle Neuroma Overweight Increased reactive oxygen species production Vestibular Schwannoma Gangrene Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Carcinoid tumor Juvenile myelomonocytic leukemia Hypotrichosis High anterior hairline Myeloproliferative disorder Elevated circulating luteinizing hormone level Thickened helices Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the spleen Redundant neck skin Elevated circulating follicle stimulating hormone level Abnormality of refraction Abnormality of the helix Abnormality of the testis Premature skin wrinkling Enlarged thorax Acute leukemia Thickened nuchal skin fold Abnormality of the mouth Pulmonary artery stenosis Acute lymphoblastic leukemia Thoracic scoliosis Curly hair Abnormality of digit Atrioventricular canal defect Prolonged bleeding time Abnormality of coagulation Abnormality of the pulmonary artery Abnormal hair quantity Pleural effusion Prominent nasolabial fold Prominent digit pad Aplasia of lymphatic vessels Abnormal atrial septum morphology Abnormal lymphatic vessel morphology Abnormal anterior segment morphology Abnormal nipple morphology Morphological abnormality of the inner ear Aplasia of the semicircular canal Hypoplasia of lymphatic vessels Abnormal location of ears Puberty and gonadal disorders Hyperkeratosis pilaris Chylothorax Reduced factor XI activity Abnormal platelet function Pulmonary lymphangiectasia Reduced factor VIII activity Abnormal pulmonary valve morphology Prominent fingertip pads Unilateral ptosis Intestinal lymphangiectasia Abnormality of the mandible Prolonged QRS complex Abnormality of the lymphatic system Myopathic facies Abnormality of the thorax Amenorrhea Radial deviation of finger Restrictive cardiomyopathy Atrial flutter Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Abnormality of blood and blood-forming tissues Abnormality of the vertebral column Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Myelodysplasia Optic disc hypoplasia Patent foramen ovale Elevated alkaline phosphatase Pterygium Poor suck Bicuspid aortic valve Azoospermia Plagiocephaly Left ventricular hypertrophy Clumsiness Primary amenorrhea Ventricular hypertrophy Asymmetry of the thorax Lymphangioma Bilateral ptosis Pectus carinatum Radioulnar synostosis Abnormality of the urinary system Coarse hair Abnormal dermatoglyphics Scapular winging Hypogonadotrophic hypogonadism Aortic valve stenosis Decreased body weight Abnormality of the genital system Otitis media Joint hyperflexibility Clinodactyly of the 5th finger Hypoplastic aortic arch Arrhythmia Talipes equinovarus Dysphagia Muscle weakness Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Panuveitis Paresthesia Respiratory failure Genu valgum Congenital megaureter Thick eyebrow Bulbous nose Synophrys Congenital cataract Protruding ear Macrotia Dyspnea Subchorionic septal cyst Large intestinal polyposis Abnormality of the shape of the midface Abnormality of pancreas morphology Large placenta Hirsutism Branchial cyst Infra-orbital crease Facial hemangioma Urogenital fistula Elevated alpha-fetoprotein Anterior creases of earlobe Choroideremia Asymmetric growth Abnormality of earlobe Pseudohypoparathyroidism Otosclerosis Short distal phalanx of finger Delayed eruption of teeth Multiple renal cysts Dystrophic fingernails Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Generalized hypertrichosis Biliary atresia Cavernous hemangioma Hyperextensibility of the finger joints Gingival fibromatosis Long penis Colpocephaly Thin bony cortex Broad ribs Bilateral sensorineural hearing impairment Protruding tongue Pericardial effusion Anonychia Metaphyseal widening Hemangioma Spina bifida occulta Hemivertebrae Generalized hirsutism Thickened skin Hypertrichosis Small nail Intellectual disability, profound Ureteral duplication Exocrine pancreatic insufficiency Mesiodens Decreased antibody level in blood Reduced tendon reflexes Acanthosis nigricans Pointed chin Increased body weight Insulin resistance Dental crowding Epidermal acanthosis Type II diabetes mellitus Pigmentary retinopathy Cyanosis Growth hormone deficiency Hypodontia Premature ovarian insufficiency Cirrhosis Astigmatism Infertility Dolichocephaly Small for gestational age Retinopathy Abnormality of the nervous system Diabetes mellitus Severe short stature Hypoplasia of the corpus callosum Ventriculomegaly Frontal bossing Cachexia High pitched voice Polycythemia Poor speech Neurodevelopmental delay Redundant skin Relative macrocephaly Sleep apnea Wide anterior fontanel Tall stature Congenital diaphragmatic hernia Prominent nose Premature birth Nephropathy Long face Obesity Slender long bone Pericardial constriction Constrictive pericarditis J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Microglossia Scaphocephaly Insulin-resistant diabetes mellitus Pericarditis Short distal phalanx of toe Ataxia Malabsorption Abnormality of the ear Unilateral cryptorchidism Abnormality of the tongue Pancreatic cysts Hypoplasia of the thymus Ketosis Foot polydactyly Protuberant abdomen Aniridia Congenital hypothyroidism Hamartoma Broad palm Large hands Teratoma Prominent supraorbital ridges Polycystic kidney dysplasia Abnormality of the outer ear Nephrocalcinosis Recurrent urinary tract infections Dandy-Walker malformation Postural instability Renal cyst Postaxial polydactyly Pulmonary hypoplasia Abnormality of the kidney Diaphragmatic eventration Abdominal wall defect Conductive hearing impairment Congenital mesoblastic nephroma Pruritus Paralysis Autistic behavior Osteopenia Weight loss Glaucoma Osteoporosis Hydrocephalus Peripheral neuropathy Visual impairment Anemia Pancreatoblastoma Embryonal neoplasm Fibrous hamartoma Pancreatic hyperplasia Overgrowth of external genitalia Vitreomacular adhesion Nephroblastomatosis Thymus hyperplasia Abdominal mass Opsoclonus Ganglioneuroma Flank pain Prune belly Renal cortical cysts Carcinoma Short nose Spasticity Mental deterioration Progressive neurologic deterioration Psychosis Neuronal loss in central nervous system Gliosis Generalized myoclonic seizures Neutropenia Wide nose Platyspondyly Nyctalopia Erythema Developmental regression Joint laxity Chronic diarrhea Gait ataxia Brachycephaly Recurrent respiratory infections Abnormality of metabolism/homeostasis Recurrent infections Cerebral atrophy Long philtrum Kyphosis Diarrhea Anteverted nares Gait disturbance Hyperreflexia Involuntary movements Hydrops fetalis Respiratory distress Abnormality of the ovary Aspartylglucosaminuria Angiofibromas Oligosacchariduria Spondylolysis Angiokeratoma corporis diffusum Methemoglobinemia Angiokeratoma Cranial asymmetry Adenoma sebaceum Facial edema Vacuolated lymphocytes Spondylolisthesis Aspiration Broad face Macroorchidism Beaking of vertebral bodies Dysostosis multiplex Palpebral edema Thickened calvaria Muscle fibrillation Pathologic fracture Emotional lability Acne Widely spaced teeth Hoarse voice Abnormality of the vestibular nerve



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Situs inversus totalis, related diseases and genetic alterations Motor delay and Dental malocclusion, related diseases and genetic alterations Edema and Generalized muscle weakness, related diseases and genetic alterations Low-set ears and Wide mouth, related diseases and genetic alterations

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