Congestive heart failure, and Basal cell carcinoma

Diseases related with Congestive heart failure and Basal cell carcinoma

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


Top matches:

Medium 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

Low match FAMILIAL ATRIAL MYXOMA


Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.

FAMILIAL ATRIAL MYXOMA Is also known as atrial myxoma, familial

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Atrial septal defect
  • Congestive heart failure


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL ATRIAL MYXOMA

Low match WHIM SYNDROME


WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).

WHIM SYNDROME Is also known as warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|warts-infections-leukopenia-myelokatexis syndrome|wilm|warts-hypogammaglobulinemia-infections-myelokathexis syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Fever
  • Congestive heart failure
  • Immunodeficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WHIM SYNDROME

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Other less relevant matches:

Low match UVEAL MELANOMA


Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.

UVEAL MELANOMA Is also known as choroidal melanoma|iris melanoma

Related symptoms:

  • Neoplasm
  • Visual loss
  • Carcinoma
  • Retinal detachment
  • Nevus


SOURCES: ORPHANET OMIM MENDELIAN

More info about UVEAL MELANOMA

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

Low match COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY


Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

Low match AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME


Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

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 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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Basal cell carcinoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Hypothyroidism Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
Cafe-au-lait spot Uncommon - Between 30% and 50% cases
Growth hormone excess Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Nevus Cardiac myxoma Pituitary adenoma Dilatation Increased circulating cortisol level Precocious puberty Hirsutism Neoplasm of the skin Fever Bronchiectasis Recurrent upper respiratory tract infections Autoimmunity Immunodeficiency Pneumonia

Rare Symptoms - Less than 30% cases


Otitis media Thyroid carcinoma Prolactin excess Neoplasm of the pancreas Respiratory failure Hypermelanotic macule Respiratory tract infection Arthritis Subcutaneous nodule Neutropenia Stroke Lymphoma Verrucae Decreased antibody level in blood Combined immunodeficiency Ovarian cyst Hypertension Red hair Thrombocytopenia Global developmental delay Immune dysregulation Villous atrophy Autoimmune thrombocytopenia Autoimmune hemolytic anemia Inflammation of the large intestine Abnormal intestine morphology Purpura Type I diabetes mellitus Inflammatory abnormality of the skin Hemolytic anemia Hepatosplenomegaly Diabetes mellitus Recurrent respiratory infections Recurrent infections Schwannoma Diarrhea Anemia Growth delay Follicular hyperplasia Freckling Macule Gynecomastia Tall stature Papule Thyroid follicular hyperplasia Profuse pigmented skin lesions Testicular neoplasm Pituitary prolactin cell adenoma Hearing impairment Multiple lentigines Neurofibromas Heart murmur Confusion Exertional dyspnea Ischemic stroke Dilatation of the cerebral artery Seizures Cognitive impairment Emphysema Behavioral abnormality Abnormal facial shape Hypogonadism Vomiting Blindness Depressed nasal bridge Pulmonic valve myxoma Abnormal serum interferon-gamma level Medial calcification of large arteries Synophrys Esophageal carcinoma Oropharyngeal squamous cell carcinoma Susceptibility to herpesvirus Recurrent Aspergillus infections Carotid artery dilatation Functional abnormality of the bladder Autoimmune neutropenia Renal artery stenosis Hyperactivity Primary amenorrhea Facial asymmetry Hypercalciuria Adrenal insufficiency Hyperostosis Acne Rickets Hypercalcemia Elevated alkaline phosphatase Goiter Infertility Nephrocalcinosis Aspiration Decreased liver function Nephrolithiasis Antiphospholipid antibody positivity Amenorrhea Abdominal distention Renovascular hypertension Enterocolitis B lymphocytopenia Brain neoplasm Burkitt lymphoma Generalized lymphadenopathy Interstitial pneumonitis Gastritis IgM deficiency Ventricular hypertrophy Cor pulmonale Hypertriglyceridemia Short stature Clubbing of fingers Chronic lung disease Exocrine pancreatic insufficiency Sparse scalp hair Fatigable weakness IgA deficiency Recurrent sinusitis Mitral regurgitation Sparse hair Delayed skeletal maturation Primary hypothyroidism Thyroiditis Decrease in T cell count Pathologic fracture Generalized osteoporosis Chronic mucocutaneous candidiasis Abnormality of the endocrine system Hashimoto thyroiditis Pulmonary embolism Patent foramen ovale Osteopenia Encephalitis Leukoencephalopathy Lymphopenia Pulmonary arterial hypertension Eczema Hepatitis Sepsis Delayed puberty Hypophosphatemia Osteomalacia Abnormality of the thyroid gland Wolff-Parkinson-White syndrome Chylothorax Abnormality of the pleura Rhabdomyosarcoma Pneumothorax Gingival fibromatosis Astrocytoma Abnormality of the pancreas Abnormality of the respiratory system Third degree atrioventricular block Skin tags Gingivitis Multiple renal cysts Nevus flammeus Renal cell carcinoma Hamartoma Multiple cafe-au-lait spots Adenoma sebaceum Ependymoma Cortical dysplasia Hypomelanotic macule Rhabdomyoma Subungual fibromas Achromatic retinal patches Pulmonary lymphangiomyomatosis Confetti-like hypopigmented macules Ungual fibroma Dental enamel pits Cardiac rhabdomyoma Shagreen patch Subependymal nodules Cortical tubers Chordoma Retinal hamartoma Angiofibromas Renal angiomyolipoma Optic nerve glioma Macrodactyly Infantile spasms Prominent occiput Hyperparathyroidism Multinodular goiter Monostotic fibrous dysplasia Large cafe-au-lait macules with irregular margins Precocious puberty in females Polyostotic fibrous dysplasia Thyroid nodule Axillary freckling Myelofibrosis Hamartomatous polyposis Motor delay Pseudohypoparathyroidism Craniofacial hyperostosis Intestinal polyposis Pituitary hypothyroidism Osteosarcoma Syringomyelia Interstitial pulmonary abnormality Hyperthyroidism Intellectual disability Optic atrophy Abnormality of neuronal migration Specific learning disability Atrioventricular block Increased intracranial pressure Hypopigmented skin patches Aplasia/Hypoplasia of the corpus callosum Bradycardia Generalized-onset seizure Cerebral calcification Renal cyst Respiratory insufficiency Iris coloboma Attention deficit hyperactivity disorder Abnormality of the liver Anxiety EEG abnormality Autism Arrhythmia Renal insufficiency Colitis Intracranial hemorrhage Aortic valve stenosis Inferior lens subluxation Syncope Mitral valve prolapse Choroidal nevus Abnormal visual accommodation Ciliary body melanoma Iris melanoma Choroidal melanoma Subretinal fluid Chest pain Photopsia Uveal melanoma Zonular cataract Abnormal fundus morphology Metamorphopsia Mydriasis Cutaneous melanoma Sudden cardiac death Ascites Ocular pain Stomach cancer Adrenocortical carcinoma Pulmonary carcinoid tumor Aortic atherosclerosis Neoplasm of the breast Enlarged polycystic ovaries Abnormality of the intrahepatic bile duct Hypoplasia of the musculature Atrial septal defect Polycystic ovaries Parathyroid adenoma Neoplasm of the endocrine system Headache Jaundice Abnormality of skin pigmentation Ovarian neoplasm Colon cancer Coma Vitreous hemorrhage Inflammatory abnormality of the eye Pancreatic adenocarcinoma Cerebral hemorrhage Leukocytosis Easy fatigability Recurrent bacterial infections Meningitis Sinusitis Recurrent urinary tract infections Tricuspid regurgitation Thromboembolism Cellulitis Carious teeth Subarachnoid hemorrhage Edema of the lower limbs Pulmonary edema Endocarditis Orthopnea Increased inflammatory response Osteomyelitis IgG deficiency Abnormality of refraction Hypersegmentation of neutrophil nuclei Increased intraocular pressure Melanoma Cardiomegaly Retinal detachment Visual loss Myelokathexis Bone marrow hypercellularity Tonsillitis Periodontitis Septic arthritis Folliculitis Abnormality of bone marrow cell morphology Abnormality of female external genitalia Abnormality of female internal genitalia Atelectasis Cholestasis B-cell lymphoma Thyroid adenoma Osteochondroma Clubbing Pheochromocytoma Cutaneous myxoma Myxoid subcutaneous tumors Uterine leiomyoma Follicular thyroid carcinoma Absent eyelashes Fibroma Paraganglioma Generalized hypopigmentation Failure to thrive Macroorchidism Blue irides Bipolar affective disorder Striae distensae Premature skin wrinkling Alopecia universalis Cardiomyopathy Aortic root aneurysm Prematurely aged appearance Sarcoma Absent eyebrow Atherosclerosis Hypercholesterolemia Conjunctivitis Bacterial endocarditis Chronic diarrhea Abnormal lung morphology Recurrent otitis media Pancytopenia Scleroderma Asthma Lymphadenopathy Coronary artery atherosclerosis Premature graying of hair Aplasia/Hypoplasia of the eyebrow Reduced subcutaneous adipose tissue Lipoatrophy Splenomegaly Squamous cell carcinoma of the skin Hemangioma Recurrent paroxysmal headache Uterine neoplasm Peripheral Schwannoma Loss of eyelashes Blue nevus Hepatocellular adenoma Pigmented micronodular adrenocortical disease Histiocytoma Bronchogenic cyst Hypertension associated with pheochromocytoma Pigmentation of the sclera Nodular goiter Vestibular Schwannoma Fibroadenoma of the breast Increased urinary cortisol level Adrenal pheochromocytoma Pituitary growth hormone cell adenoma Abnormal prolactin level Abnormal pigmentation of the oral mucosa Sertoli cell neoplasm Increased body weight Proximal muscle weakness Abnormality of the pulmonary artery Mitral valve calcification Palpitations Abnormality of the skin Papillary renal cell carcinoma Abnormality of the eye Myalgia Dyspnea Coronary artery stenosis Weight loss Osteoporosis Respiratory distress Fatigue Pain Muscle weakness Intra-oral hyperpigmentation Abnormality of circulating adrenocorticotropin level Subependymal giant-cell astrocytoma



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