Cardiomyopathy, and Nephroblastoma

Diseases related with Cardiomyopathy and Nephroblastoma

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Medium 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

Medium match SIMPSON-GOLABI-BEHMEL SYNDROME


Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

Low match PLEUROPULMONARY BLASTOMA; PPB


Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the lung that arises during fetal lung development and is often part of an inherited cancer syndrome (Hill et al., 2009). PPBs contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense 'cambium' layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis (Priest et al., 1996).In approximately 35% of families in which a child has PPB, the patient or a family member manifests 1 or more additional conditions from an unusual array of dysontogenetic-dysplastic and malignant conditions, known as the 'PPB family tumor and dysplasia syndrome' (PPBFTDS). Cystic nephroma, which are benign lesions of the kidney, are found in 9 to 10% of family members affected by PPB (summary by Bahubeshi et al., 2010).Larger studies have shown that DICER1 mutations are associated with a variety of tumor types, indicating that this disorder can be considered a tumor predisposition syndrome (summary by Slade et al., 2011).

PLEUROPULMONARY BLASTOMA; PPB Is also known as ppb familial tumor and dysplasia syndrome|ppbftds

Related symptoms:

  • Neoplasm
  • Atrial septal defect
  • Patent ductus arteriosus
  • Leukemia
  • Overgrowth


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLEUROPULMONARY BLASTOMA; PPB

Low match MEACHAM SYNDROME


Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.

MEACHAM SYNDROME Is also known as rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome|meacham-winn-culler syndrome

Related symptoms:

  • Neoplasm
  • Cryptorchidism
  • Ventricular septal defect
  • Atrial septal defect
  • Hernia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEACHAM SYNDROME

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

Low match LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME


LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.

LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME Is also known as lcps

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Congestive heart failure
  • Sparse hair
  • Ventricular hypertrophy


SOURCES: ORPHANET MENDELIAN

More info about LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Nephroblastoma

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Cryptorchidism Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Overgrowth Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Atrial septal defect Hemihypertrophy Diastasis recti Generalized hypotonia Abnormal heart morphology Enlarged kidney Rhabdomyosarcoma Macrocephaly Neuroblastoma Large for gestational age Omphalocele Hypertelorism Macroglossia Ventricular septal defect Hypoglycemia Umbilical hernia Polyhydramnios Cleft palate Embryonal neoplasm Hepatoblastoma Abnormal facial shape Visceromegaly Splenomegaly Abnormality of cardiovascular system morphology Proptosis Nevus flammeus Inguinal hernia Wide mouth Neonatal hypoglycemia Hypothyroidism Coarse facial features Accelerated skeletal maturation Congenital diaphragmatic hernia Seizures Leukemia Abnormality of the genital system Patent ductus arteriosus Posterior helix pit Hypertension Gonadoblastoma Transposition of the great arteries Hernia Obesity

Rare Symptoms - Less than 30% cases


Neurological speech impairment Dandy-Walker malformation Pulmonary sequestration Abnormality of the outer ear Short stature Broad palm Adrenocortical carcinoma Mandibular prognathia Premature birth Hypoplasia of penis Hyperactivity Nephroblastomatosis Midface retrusion Epicanthus Short neck Facial asymmetry Abdominal wall defect Large fontanelles Renal cyst Prominent metopic ridge Adrenocortical cytomegaly Aortic valve stenosis Global developmental delay Hearing impairment Ureteral duplication Short nose Polydactyly Abnormal lung lobation Hydronephrosis Cardiomegaly Prominent occiput Abnormality of the kidney Hypercalciuria Relative macrocephaly Medulloblastoma Tall stature Nephrolithiasis Postaxial polydactyly Anterior creases of earlobe Vesicoureteral reflux Abdominal distention Micrognathia Nevus Intrauterine growth retardation Nephropathy Depressed nasal bridge Ambiguous genitalia Hypospadias Muscular hypotonia Aniridia Cataract Hypertrophic cardiomyopathy Wide nasal bridge Failure to thrive Renal neoplasm Scoliosis Intellectual disability, moderate Microcephaly Abnormal vagina morphology Congestive heart failure Growth delay Edema Small for gestational age Prolonged QT interval Muscle weakness Vertebral segmentation defect Bundle branch block Delayed speech and language development Supernumerary nipple Hydroureter Abnormality of the intrahepatic bile duct Bilateral talipes equinovarus Anemia Pulmonary carcinoid tumor Vertebral fusion Duodenal atresia Squamous cell carcinoma of the skin Abnormality of the pulmonary artery Flared iliac wings Abnormality of the helix Furrowed tongue Mitral valve calcification Papillary renal cell carcinoma Abnormality of digit Coronary artery stenosis Polysplenia Loss of eyelashes Low hanging columella Broad foot Aortic atherosclerosis Preauricular pit Narrow palpebral fissure Cupped ear Wide nose Dental malocclusion Intestinal malrotation Bifid uvula Broad nasal tip Short foot Retinal detachment High, narrow palate Thick vermilion border Abnormality of the ureter Abnormality of the face Short distal phalanx of finger Short palm Thin vermilion border Cleft upper lip Pulmonic stenosis Toe syndactyly Congenital cataract Finger syndactyly Webbed neck Nail dysplasia Abnormality of the voice Cerebral visual impairment Abnormality of the hand Ankyloglossia Multicystic kidney dysplasia Congenital hip dislocation Cardiac arrest Hoarse voice Short toe Preauricular skin tag Renal dysplasia Postaxial hand polydactyly Broad thumb Clinodactyly Micropenis Clumsiness Cerebellar vermis hypoplasia Small nail Abnormality of the ribs Autistic behavior Aplasia/Hypoplasia of the abdominal wall musculature Meckel diverticulum Increased IgE level Pleuropulmonary blastoma Anal atresia Short thumb Cafe-au-lait spot Hyperpigmentation of the skin Bone marrow hypocellularity Acute myeloid leukemia Chromosome breakage Aplastic anemia Primitive neuroectodermal tumor Acute monocytic leukemia Chromosomal breakage induced by crosslinking agents Sparse hair Ventricular hypertrophy Hypertriglyceridemia Sparse scalp hair Mitral regurgitation Embryonal rhabdomyosarcoma Bicuspid pulmonary valve Medulloepithelioma Irritability Vaginal atresia Abnormality of the fallopian tube Crossed fused renal ectopia Hydrometrocolpos Conotruncal defect Diffuse mesangial sclerosis Aplasia of the uterus Anomalous pulmonary venous return Abnormality of the spleen Ewing sarcoma Sex reversal Aplasia/Hypoplasia of the lungs Hypoplastic left heart Horseshoe kidney Situs inversus totalis Postnatal growth retardation Coarctation of aorta Tetralogy of Fallot Multinodular goiter Atherosclerosis Alopecia universalis 2-3 finger syndactyly Aortic root aneurysm Duplication of renal pelvis Penoscrotal transposition Birth length greater than 97th percentile Broad secondary alveolar ridge Narrow sacroiliac notch Absent eyelashes Short sacroiliac notch Six lumbar vertebrae Short 2nd finger Penoscrotal hypospadias Broad toe Septate vagina Premature skin wrinkling Cervical ribs Pancreatic islet-cell hyperplasia Chordee Prematurely aged appearance Scleroderma Histiocytosis Hodgkin lymphoma Hypercholesterolemia Intracranial hemorrhage Absent eyebrow Emphysema Coronary artery atherosclerosis Premature graying of hair Aplasia/Hypoplasia of the eyebrow Sarcoma Lipoatrophy Goiter Two carpal ossification centers present at birth Basal cell carcinoma Reduced subcutaneous adipose tissue Cyst of the ductus choledochus Exertional dyspnea Cleft lower lip Submucous cleft lip Camptodactyly of finger Polycystic kidney dysplasia Low-set, posteriorly rotated ears Increased body weight Pulmonary fibrosis High pitched voice Premature ovarian insufficiency Cachexia Reduced tendon reflexes Acanthosis nigricans Pointed chin Insulin resistance Pericarditis Dental crowding Epidermal acanthosis Type II diabetes mellitus Pigmentary retinopathy Cyanosis Growth hormone deficiency Decreased antibody level in blood Slender long bone Insulin-resistant diabetes mellitus Ascites Constrictive pericarditis Wide anterior fontanel Prominent nose Long face Poor speech Feeding difficulties in infancy Autism Pericardial constriction Hypoplastic frontal sinuses Scaphocephaly J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Myocardial fibrosis Microglossia Triangular face Hypodontia Arnold-Chiari malformation Abnormality of the genitourinary system Displacement of the external urethral meatus Streak ovary Aplasia/Hypoplasia of the iris Peters anomaly Abnormality of the uterus Hearing abnormality Acute lymphoblastic leukemia Microcornea Strabismus Everted lower lip vermilion Corneal opacity Glaucoma Microphthalmia Renal insufficiency Visual impairment Ptosis Nystagmus Dysfunction of lateral corticospinal tracts High palate Cirrhosis Hepatosplenomegaly Astigmatism Infertility Delayed puberty Dolichocephaly Broad forehead Retinopathy Abnormality of the nervous system Diabetes mellitus Feeding difficulties Hypogonadism Severe short stature Depressivity Hypoplasia of the corpus callosum Ventriculomegaly Frontal bossing Dysarthria Motor delay Sleep apnea Redundant skin Cleft lip Diaphragmatic eventration Abdominal mass Opsoclonus Ganglioneuroma Flank pain Prune belly Renal cortical cysts Teratoma Unilateral cryptorchidism Vitreomacular adhesion Abnormality of the tongue Pancreatic cysts Hypoplasia of the thymus Nonimmune hydrops fetalis Ketosis Foot polydactyly Protuberant abdomen Thymus hyperplasia Overgrowth of external genitalia Hamartoma Blindness Upslanted palpebral fissure Agenesis of corpus callosum Clinodactyly of the 5th finger Arrhythmia Pectus excavatum Syndactyly Abnormality of the dentition Intellectual disability, severe Pancreatic hyperplasia Hydrocephalus Anteverted nares Talipes equinovarus Abnormality of the skeletal system Downslanted palpebral fissures Congenital mesoblastic nephroma Pancreatoblastoma Fibrous hamartoma Congenital hypothyroidism Tibial bowing Melanocytic nevus Elevated alpha-fetoprotein Congenital megaureter Large placenta Branchial cyst Infra-orbital crease Facial hemangioma Urogenital fistula Leiomyosarcoma Choroideremia Abnormality of the shape of the midface Asymmetric growth Abnormality of earlobe Pseudohypoparathyroidism Otosclerosis Multiple renal cysts Exocrine pancreatic insufficiency Polycythemia Neurodevelopmental delay Abnormality of pancreas morphology Large intestinal polyposis Abnormality of the ear Joint hypermobility Large hands Prominent supraorbital ridges Growth abnormality Nephrocalcinosis Recurrent urinary tract infections Postural instability Pulmonary hypoplasia Attention deficit hyperactivity disorder Subchorionic septal cyst Carcinoma Conductive hearing impairment Respiratory failure Myoclonus Intellectual disability, mild Respiratory distress Respiratory insufficiency Pain Auricular pit



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Lactic acidosis, related diseases and genetic alterations Delayed speech and language development and Large fontanelles, related diseases and genetic alterations Edema and Ichthyosis, related diseases and genetic alterations High palate and Otitis media, related diseases and genetic alterations

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