Congestive heart failure, and Nevus

Diseases related with Congestive heart failure and Nevus

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


Top matches:

Low match PARKES WEBER SYNDROME


Related symptoms:

  • Congestive heart failure
  • Headache
  • Glaucoma
  • Abnormal bleeding
  • Hemiparesis


SOURCES: ORPHANET MENDELIAN

More info about PARKES WEBER SYNDROME

Low match CARNEY COMPLEX


Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.

CARNEY COMPLEX Is also known as myxoma-spotty pigmentation-endocrine overactivity syndrome|carney syndrome|carney myxoma-endocrine complex, type 2

Related symptoms:

  • Neoplasm
  • Congestive heart failure
  • Stroke
  • Hirsutism
  • Sudden cardiac death


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARNEY COMPLEX

Low match CARNEY COMPLEX, TYPE 1; CNC1


Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).

CARNEY COMPLEX, TYPE 1; CNC1 Is also known as lamb syndrome|myxoma, spotty pigmentation, and endocrine overactivity|carney myxoma-endocrine complex|car|carney syndrome|name syndrome

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about CARNEY COMPLEX, TYPE 1; CNC1

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Other less relevant matches:

Low match MCCUNE-ALBRIGHT SYNDROME; MAS


Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (OMIM ) (Lumbroso et al., 2004).

MCCUNE-ALBRIGHT SYNDROME; MAS Is also known as albright syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Abnormal facial shape
  • Depressed nasal bridge
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCCUNE-ALBRIGHT SYNDROME; MAS

Low match MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Low match TUBEROUS SCLEROSIS COMPLEX


Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.

TUBEROUS SCLEROSIS COMPLEX Is also known as tuberous sclerosis|bourneville syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about TUBEROUS SCLEROSIS COMPLEX

Low match TUBEROUS SCLEROSIS 1; TSC1


Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

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 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 Congestive heart failure and Nevus

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Cafe-au-lait spot Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Multiple lentigines Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Nevus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Stroke Hypothyroidism Depressed nasal bridge Abnormal facial shape Precocious puberty Hypertension Short stature Vomiting Hearing impairment Fibroma Hypertelorism Scoliosis Short neck Intellectual disability, mild Hamartoma Renal insufficiency Dilatation Arrhythmia Headache Multiple cafe-au-lait spots Cardiomyopathy Growth delay Pain Global developmental delay Growth hormone excess Increased circulating cortisol level Hypermelanotic macule Subcutaneous nodule Pituitary adenoma Hirsutism

Rare Symptoms - Less than 30% cases


Ovarian cyst Subvalvular aortic stenosis Posteriorly rotated ears Astigmatism Retinopathy Intrauterine growth retardation Hypoplasia of dental enamel Nevus flammeus Cognitive impairment Respiratory insufficiency Behavioral abnormality Autism Attention deficit hyperactivity disorder Renal cyst Specific learning disability Cerebral calcification Abnormal heart morphology Abnormality of cardiovascular system morphology Pectus excavatum Cryptorchidism Infertility Abdominal distention High pitched voice Neoplasm of the skin Generalized hypotonia Cleft palate Low-set ears Hypospadias High palate Delayed speech and language development Epicanthus Wide nasal bridge Edema Overgrowth Generalized-onset seizure Emphysema Hyperactivity Abnormality of the kidney Dental enamel pits Ungual fibroma Pulmonary lymphangiomyomatosis Achromatic retinal patches Subungual fibromas Rhabdomyoma Intellectual disability, moderate Depressivity Cardiac rhabdomyoma Kyphosis Chest pain Gliosis Brain atrophy Strabismus Glaucoma Heterotopia Nephroblastoma Hypomelanotic macule Subependymal nodules Infantile spasms Pneumothorax Renal cell carcinoma Triangular face Skin tags Abnormality of the respiratory system Wolff-Parkinson-White syndrome Delayed puberty Astrocytoma Gingival fibromatosis Chylothorax Cortical tubers Adenoma sebaceum Third degree atrioventricular block Ependymoma Shagreen patch Optic nerve glioma Renal angiomyolipoma Angiofibromas Chordoma Autoimmunity Hypoplasia of the corpus callosum Hypogonadism Fever Carcinoma Increased body weight Dyspnea Respiratory distress Fatigue Cardiac myxoma Neurofibromas Tall stature Profuse pigmented skin lesions Macule Prolactin excess Thyroid carcinoma Generalized hypopigmentation Freckling Gynecomastia Thyroid follicular hyperplasia Testicular neoplasm Neoplasm of the pancreas Schwannoma Pituitary prolactin cell adenoma Abnormality of the skin Red hair Papule Heart block Arteriosclerosis Syncope Unilateral renal agenesis Anterior pituitary dysgenesis Missing ribs Angina pectoris Hyposmia Atherosclerosis Webbed neck Bundle branch block Premature arteriosclerosis Bilateral cryptorchidism Severe hearing impairment Depressed nasal ridge Myocardial infarction Mutism Abnormal lung morphology Abnormal immunoglobulin level Moyamoya phenomenon Abnormal form of the vertebral bodies Cubitus valgus Pterygium Spina bifida occulta Mitral regurgitation Abnormality of epiphysis morphology Hyperlipidemia Lymphopenia Bone marrow hypocellularity Opacification of the corneal stroma Aortic valve stenosis Abnormality of the genital system Scapular winging Chronic kidney disease Azoospermia Abnormality of the skeletal system Kyphoscoliosis Mandibular prognathia B-cell lymphoma Lymphoproliferative disorder Micropenis Hyperkeratosis Alopecia Villous atrophy Nephrosclerosis Ptosis Disproportionate short-trunk short stature Sensorineural hearing impairment Cerebral ischemia Precocious atherosclerosis Right ventricular cardiomyopathy Projection of scalp hair onto lateral cheek Connective tissue nevi Premature chromatid separation Flank pain Dentinogenesis imperfecta Neonatal hypotonia Ovoid vertebral bodies Reduced bone mineral density Nephritis Coarse hair Abnormal aortic valve morphology Pulmonic stenosis Pectus carinatum Encephalitis Glomerulosclerosis Epiphyseal dysplasia Glomerulonephritis Protruding ear Melanocytic nevus Thoracic kyphosis Hypertrophic cardiomyopathy Spondyloepiphyseal dysplasia Focal segmental glomerulosclerosis Combined immunodeficiency Steatorrhea Glomerulopathy Protuberant abdomen Abnormality of the vasculature Conductive hearing impairment Transient ischemic attack Abnormal mitral valve morphology Delayed menarche Fine hair Slender long bone Absent frontal sinuses Peripheral edema Weak voice Prominent superficial veins Myocardial fibrosis Microglossia Scaphocephaly Insulin-resistant diabetes mellitus Pericarditis Pulmonary fibrosis Hypoplastic frontal sinuses Stage 5 chronic kidney disease Premature ovarian insufficiency Cachexia Abnormality of skin pigmentation Steroid-resistant nephrotic syndrome White hair Bulbous nose Nephropathy Reduced tendon reflexes J-shaped sella turcica Constrictive pericarditis Shallow acetabular fossae Thin upper lip vermilion Hypoplasia of the capital femoral epiphysis Platyspondyly Hip dislocation Malabsorption Corneal opacity Scarring Hyperlordosis Developmental regression Proteinuria Osteopenia Pericardial constriction Dementia Pneumonia Thrombocytopenia Recurrent infections Immunodeficiency Abnormality of the dentition Diarrhea Cerebellar atrophy Myopia Anemia Neutropenia Acanthosis nigricans Limited elbow movement Dysarthria Small for gestational age Broad forehead Abnormality of the nervous system Hepatosplenomegaly Diabetes mellitus Severe short stature Ventriculomegaly Frontal bossing Macrocephaly Hepatomegaly Intellectual disability, profound Feeding difficulties Muscular hypotonia Failure to thrive Aplasia of the ovary Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Mucopolysacchariduria Parietal bossing Abnormal T cell morphology Dolichocephaly Cirrhosis Abnormal cerebellum morphology Insulin resistance Migraine Premature birth Lymphoma Waddling gait Decreased testicular size Increased thyroid-stimulating hormone level Cellular immunodeficiency Encephalomalacia Pointed chin Dental crowding Hypodontia Microdontia Nephrotic syndrome Epidermal acanthosis Lumbar hyperlordosis Type II diabetes mellitus Pigmentary retinopathy Cyanosis Growth hormone deficiency Decreased antibody level in blood Ascites Brain neoplasm Prominent occiput Renal neoplasm Pheochromocytoma Facial asymmetry Synophrys Blindness Cutaneous myxoma Myxoid subcutaneous tumors Uterine leiomyoma Follicular thyroid carcinoma Follicular hyperplasia Paraganglioma Macroorchidism Primary amenorrhea Blue irides Bipolar affective disorder Striae distensae Heart murmur Sarcoma Ischemic stroke Hemangioma Palpitations Confusion Amenorrhea Nephrolithiasis Myalgia Hypophosphatemia Intestinal polyposis Pituitary hypothyroidism Osteosarcoma Syringomyelia Osteomalacia Hyperthyroidism Hyperparathyroidism Abnormality of the thyroid gland Pathologic fracture Adrenal insufficiency Decreased liver function Hyperostosis Acne Rickets Hypercalcemia Elevated alkaline phosphatase Hypercalciuria Goiter Nephrocalcinosis Aspiration Abnormality of the eye Proximal muscle weakness Pseudohypoparathyroidism Colon cancer Thyroid adenoma Adrenocortical carcinoma Neoplasm of the breast Enlarged polycystic ovaries Hypoplasia of the musculature Stomach cancer Parathyroid adenoma Neoplasm of the endocrine system Ovarian neoplasm Polycystic ovaries Osteochondroma Sudden cardiac death Hypertrophy of the upper limb Hypertrophy of the lower limb Peripheral arteriovenous fistula Vascular skin abnormality Varicose veins Telangiectasia of the skin Hemiparesis Abnormal bleeding Pancreatic adenocarcinoma Recurrent paroxysmal headache Weight loss Hepatocellular adenoma Osteoporosis Muscle weakness Intra-oral hyperpigmentation Abnormality of circulating adrenocorticotropin level Sertoli cell neoplasm Pigmentation of the sclera Abnormal pigmentation of the oral mucosa Peripheral Schwannoma Blue nevus Pigmented micronodular adrenocortical disease Abnormal prolactin level Histiocytoma Bronchogenic cyst Uterine neoplasm Hypertension associated with pheochromocytoma Nodular goiter Vestibular Schwannoma Fibroadenoma of the breast Increased urinary cortisol level Adrenal pheochromocytoma Pituitary growth hormone cell adenoma Craniofacial hyperostosis Hamartomatous polyposis Hyperventilation Abnormality of the liver Multiple renal cysts Cortical dysplasia Abnormality of neuronal migration Atrioventricular block Increased intracranial pressure Hypopigmented skin patches Aplasia/Hypoplasia of the corpus callosum Bradycardia Iris coloboma Anxiety Abnormality of the pancreas EEG abnormality Optic atrophy Localized neuroblastoma Increased number of skin folds Abnormality of the scrotum Upper limb asymmetry Median cleft palate Broad eyebrow Periorbital fullness Gingivitis Rhabdomyosarcoma External ear malformation Nausea Aortic aneurysm Polycystic kidney dysplasia CNS hypomyelination Tachypnea Cardiomegaly Focal-onset seizure Hypopigmentation of the skin Sleep disturbance Retinal detachment Abnormality of the cerebral white matter Abnormality of the pleura Cough Skin rash Autistic behavior Irritability Respiratory failure Hydrocephalus Subependymal giant-cell astrocytoma Confetti-like hypopigmented macules Retinal hamartoma Macrodactyly Lower limb asymmetry Irregular hyperpigmentation Multinodular goiter Microphthalmia Low-set, posteriorly rotated ears Telecanthus Umbilical hernia High forehead Narrow mouth Brachycephaly Upslanted palpebral fissure Inguinal hernia Hernia Long philtrum Blepharophimosis Micrognathia Microcephaly Monostotic fibrous dysplasia Large cafe-au-lait macules with irregular margins Precocious puberty in females Polyostotic fibrous dysplasia Thyroid nodule Axillary freckling Myelofibrosis Abnormality of the pinna Microtia Hypoplastic nipples Cutis laxa Neuroblastoma Cerebellar vermis atrophy Abnormality of the musculature Long fingers Overlapping toe Tricuspid regurgitation Overfolded helix Optic nerve hypoplasia Scrotal hypoplasia Generalized hirsutism Severe global developmental delay Thickened skin Abnormality of the face Hypertrichosis Short palpebral fissure Dandy-Walker malformation Febrile seizures Wide intermamillary distance Full cheeks Microcornea Flat face Lateral displacement of the femoral head



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Thin skin, related diseases and genetic alterations Neuroblastoma and Glaucoma, related diseases and genetic alterations High palate and Hypospadias, related diseases and genetic alterations Strabismus and Progressive cerebellar ataxia, related diseases and genetic alterations Cleft palate and Iris coloboma, related diseases and genetic alterations Leukemia and Immunodeficiency, related diseases and genetic alterations

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