Cardiomyopathy, and Nevus

Diseases related with Cardiomyopathy and Nevus

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


Top matches:

Low match CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3


Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

Low match CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 Is also known as neuronal ceroid lipofuscinosis due to cathepsin d deficiency|ceroid lipofuscinosis, neuronal, cathepsin d-deficient

Related symptoms:

  • Seizures
  • Microcephaly
  • Ataxia
  • Spasticity
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

Low match CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 Is also known as vogt-spielmeyer disease|batten disease|spielmeyer-sjogren disease|jncl|neuronal ceroid lipofuscinosis, juvenile

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3

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Low match HERMANSKY-PUDLAK SYNDROME 1; HPS1


Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Low match HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2


A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by Fallahian et al., 2013).For a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 (OMIM ).

HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2 Is also known as hydatidiform mole, complete

Related symptoms:

  • Nevus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2

Low match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Low match LEOPARD SYNDROME 1; LPRD1


LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

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 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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Nevus

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases
Generalized hypotonia 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 Nevus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Muscular hypotonia Short stature Melanocytic nevus Hyperkeratosis Multiple lentigines Strabismus Congestive heart failure Neoplasm Global developmental delay Depressivity Cognitive impairment Astigmatism Cryptorchidism Multiple cafe-au-lait spots Hypertelorism Cerebellar atrophy Depressed nasal bridge Intrauterine growth retardation Short neck Abnormality of cardiovascular system morphology Mandibular prognathia Triangular face Dementia Delayed puberty Pulmonic stenosis Low-set ears Wide nasal bridge Nystagmus Pectus excavatum

Rare Symptoms - Less than 30% cases


Premature birth Cleft palate Hypertension Nephroblastoma High pitched voice Kyphosis Spina bifida occulta Cafe-au-lait spot Scapular winging Numerous nevi Mutism Overgrowth Abnormality of the genital system Myocardial infarction Pigmentary retinopathy Abnormal cerebellum morphology Bilateral cryptorchidism Hypoplasia of the ovary Hypothyroidism Neutropenia Acanthosis nigricans Melanoma Abnormal lung morphology Curly hair Epidermal acanthosis Abnormal mitral valve morphology Neuroblastoma Abnormal aortic valve morphology Reduced bone mineral density Bundle branch block Pulmonary fibrosis Malabsorption Recurrent infections Immunodeficiency Renal insufficiency Fatigue Myopia Freckling Hearing impairment Nephropathy Wide mouth Webbed neck Abnormal facial shape Arrhythmia Motor delay Hepatomegaly Macrocephaly Generalized-onset seizure Cyanosis Posteriorly rotated ears Gliosis Failure to thrive Hypospadias Mental deterioration Neonatal hypotonia Tremor Rod-cone dystrophy Visual loss Abnormality of the kidney Cerebral atrophy Respiratory insufficiency Pectus carinatum Sensorineural hearing impairment Retinal atrophy Blindness Cataract Subvalvular aortic stenosis Ptosis Dysarthria Visual impairment Abnormal heart morphology Intellectual disability, mild Dilatation Pneumonia Increased neuronal autofluorescent lipopigment Intracellular accumulation of autofluorescent lipopigment storage material Hypoplasia of the corpus callosum Prominent occiput Ureteral duplication Visceromegaly Increased body weight Insulin resistance Nevus flammeus Prominent metopic ridge Gonadoblastoma Hemihypertrophy Polycythemia Neonatal hypoglycemia Exocrine pancreatic insufficiency Enlarged kidney Diastasis recti Rhabdomyosarcoma Multiple renal cysts Neurodevelopmental delay Pericarditis Large for gestational age Pericardial constriction Coarse facial features Polyhydramnios Proptosis Autism Hyperactivity Inguinal hernia Obesity Midface retrusion Splenomegaly Slender long bone Constrictive pericarditis Hypoglycemia Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Myocardial fibrosis Microglossia Scaphocephaly Umbilical hernia Feeding difficulties in infancy Redundant skin Cachexia Hypercalciuria Relative macrocephaly Arnold-Chiari malformation Sleep apnea Accelerated skeletal maturation Pointed chin Wide anterior fontanel Tall stature Reduced tendon reflexes Nephrolithiasis Insulin-resistant diabetes mellitus Neurological speech impairment Premature ovarian insufficiency Omphalocele Cardiomegaly Congenital diaphragmatic hernia Prominent nose Vesicoureteral reflux Macroglossia Otosclerosis Long face Poor speech Large fontanelles Large intestinal polyposis Pseudohypoparathyroidism Epiphyseal dysplasia Protuberant abdomen Glomerulopathy Steatorrhea Hypermelanotic macule Combined immunodeficiency Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Nephritis Glomerulonephritis Glomerulosclerosis Transient ischemic attack Encephalitis Chronic kidney disease Coarse hair Azoospermia Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Lymphopenia Abnormality of epiphysis morphology Abnormality of the vasculature Thoracic kyphosis Abnormal form of the vertebral bodies Mucopolysacchariduria 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 Hypoplasia of the capital femoral epiphysis Ovoid vertebral bodies Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Heterotopia Fine hair Abnormality of earlobe Posterior helix pit Vomiting Fever Anemia Subchorionic septal cyst Type II diabetes mellitus Abnormality of the shape of the midface Adrenocortical cytomegaly Abnormality of pancreas morphology Congenital megaureter Large placenta Branchial cyst Abnormality of the dentition Infra-orbital crease Adrenocortical carcinoma Facial hemangioma Urogenital fistula Leiomyosarcoma Elevated alpha-fetoprotein Hepatoblastoma Anterior creases of earlobe Choroideremia Asymmetric growth Diarrhea Headache Intellectual disability, profound Stage 5 chronic kidney disease Lumbar hyperlordosis Nephrotic syndrome Microdontia Decreased testicular size Waddling gait Lymphoma Migraine Brain atrophy Bulbous nose Abnormality of skin pigmentation Platyspondyly Thrombocytopenia Hip dislocation Corneal opacity Stroke Autoimmunity Scarring Hyperlordosis Developmental regression Proteinuria Thin upper lip vermilion Osteopenia Dental crowding Abnormality of the skeletal system Growth hormone deficiency Autophagic vacuoles Abdominal pain Progressive inability to walk Increased extraneuronal autofluorescent lipopigment Cerebral degeneration Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Presenile cataracts Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Concentric hypertrophic cardiomyopathy Vacuolated lymphocytes Dyspnea Oromandibular dystonia Psychomotor deterioration Vegetative state Tapetoretinal degeneration Undetectable electroretinogram Pendular nystagmus Aspiration pneumonia Progressive encephalopathy Weight loss Photophobia Macular degeneration Inflammation of the large intestine Severe vision loss Iris hypopigmentation Hypopigmentation of hair Colitis Prolonged bleeding time Restrictive ventilatory defect Basal cell carcinoma Albinism Abnormality of dental enamel Bruising susceptibility Abnormality of the hair Amblyopia Anorexia Long eyelashes Thickened skin Epistaxis Gastrointestinal hemorrhage Abnormal bleeding Hypopigmentation of the skin Mildly elevated creatine phosphokinase Aspiration Abnormality of visual evoked potentials Respiratory distress Neuronal loss in central nervous system Peripheral axonal neuropathy Apnea Rigidity Respiratory failure Abnormality of metabolism/homeostasis Myopathy Intellectual disability, severe Peripheral neuropathy Status epilepticus Spasticity Ataxia Microcephaly Abnormality of the palpebral fissures Hyperkeratosis pilaris Heat intolerance Postnatal growth retardation Hyperhidrosis Sloping forehead Postnatal microcephaly Clumsiness Myoclonus Psychosis Progressive visual loss Memory impairment Parkinsonism Retinal degeneration Confusion Anxiety Glaucoma Elevated serum creatine phosphokinase Bradycardia Encephalopathy Dystonia Behavioral abnormality Optic atrophy Premature closure of fontanelles Central apnea Loss of speech Sensory axonal neuropathy Intellectual disability, progressive Gingival bleeding Ocular albinism Decreased antibody level in blood Unilateral renal agenesis Delayed menarche Parietal bossing Limited elbow movement Hyposmia Angina pectoris Missing ribs Heart block Severe hearing impairment Cubitus valgus Coronary artery aneurysm Pterygium Aortic valve stenosis Mitral regurgitation Depressed nasal ridge Syncope Chest pain Protruding ear Conductive hearing impairment Third degree atrioventricular block Aplasia of the ovary Micropenis Retinopathy Abdominal distention Ascites Hypodontia Cirrhosis Infertility Dolichocephaly Small for gestational age Broad forehead Intellectual disability, moderate High palate Abnormality of the nervous system Hepatosplenomegaly Diabetes mellitus Hypogonadism Severe short stature Edema Ventriculomegaly Frontal bossing Feeding difficulties Kyphoscoliosis Alopecia Hematochezia Brachycephaly Subcutaneous nodule Abnormality of the face Mitral valve prolapse Tetralogy of Fallot Specific learning disability Thick vermilion border Joint hyperflexibility Low-set, posteriorly rotated ears Delayed skeletal maturation Hyperextensible skin Freckles in sun-exposed areas Menometrorrhagia Partial albinism Squamous cell carcinoma of the skin Impaired platelet aggregation Abnormal thrombocyte morphology Ulcerative colitis Abnormality of the optic nerve Left ventricular hypertrophy Myelodysplasia Epicanthus Aplasia/Hypoplasia of the abdominal wall musculature Delayed speech and language development Pain Abnormal pulmonary valve morphology Abnormal endocardium morphology Excessive wrinkled skin Abnormality of the pulmonary artery Abnormal localization of kidney Shield chest Redundant neck skin Abnormality of the voice Wolff-Parkinson-White syndrome Right ventricular hypertrophy Premature skin wrinkling Sprengel anomaly Severe sensorineural hearing impairment Atrioventricular canal defect Decreased fertility Abnormality of the ear External genital hypoplasia Lateral displacement of the femoral head



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