Congestive heart failure, and Squamous cell carcinoma

Diseases related with Congestive heart failure and Squamous cell carcinoma

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Squamous 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

Medium 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

Medium match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

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Other less relevant matches:

Medium match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

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

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 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

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

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

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

Uncommon Symptoms - Between 30% and 50% cases


Type I diabetes mellitus Diabetes mellitus Fever Short stature Growth delay Lymphoma Hirsutism Anemia Pneumonia Nevus Neutropenia Cardiac myxoma Immunodeficiency Hypogonadism Autoimmunity Hypertension Thrombocytopenia Increased circulating cortisol level Thyroid carcinoma Neoplasm of the skin Bronchiectasis Recurrent upper respiratory tract infections Hearing impairment Pituitary adenoma

Rare Symptoms - Less than 30% cases


Immune dysregulation Dilatation of the cerebral artery Recurrent urinary tract infections Villous atrophy Ischemic stroke Ovarian cyst Atrial septal defect Heart murmur Abnormality of skin pigmentation Primary hypothyroidism Pancytopenia Respiratory distress Myelodysplasia Cataract Facial asymmetry Otitis media Combined immunodeficiency Freckling Insulin resistance Hypergonadotropic hypogonadism Weight loss Gynecomastia Tall stature Abnormality of the eye Chest pain Coma Hypopigmentation of the skin Decreased antibody level in blood Pain Follicular hyperplasia Leukemia Respiratory tract infection Proptosis Arthritis Respiratory failure Osteoporosis Behavioral abnormality Sarcoma Verrucae Headache Visual impairment Thyroid follicular hyperplasia Fatigue Autoimmune thrombocytopenia Exertional dyspnea Stroke Osteosarcoma Abnormal facial shape Failure to thrive Hypermelanotic macule Abnormality of the testis Prematurely aged appearance Scleroderma Lipoatrophy Premature graying of hair Diarrhea Prolactin excess Testicular neoplasm Pituitary prolactin cell adenoma Atherosclerosis B-cell lymphoma Sparse scalp hair Multiple lentigines Schwannoma Red hair Global developmental delay Neurofibromas Dilatation Hemolytic anemia Autoimmune hemolytic anemia Inflammation of the large intestine Precocious puberty Abnormal intestine morphology Purpura Confusion Inflammatory abnormality of the skin Myeloid leukemia Profuse pigmented skin lesions Recurrent infections Ovarian neoplasm Hepatosplenomegaly Recurrent respiratory infections Atelectasis Myelokathexis Folliculitis Septic arthritis Neoplasm of the endocrine system Cellulitis Bone marrow hypercellularity Abnormality of bone marrow cell morphology Hypersegmentation of neutrophil nuclei Colon cancer Subcutaneous nodule Periodontitis Neoplasm of the pancreas Polycystic ovaries Abnormality of female external genitalia Abnormality of female internal genitalia IgG deficiency Tonsillitis Sudden cardiac death Edema of the lower limbs Osteomyelitis Partial duplication of thumb phalanx Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Complete duplication of thumb phalanx Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Neoplasm of head and neck Aplasia/Hypoplasia of fingers Leukocytosis Thromboembolism Recurrent bacterial infections Meningitis Sinusitis Carious teeth Pulmonic valve myxoma Bacterial endocarditis Increased inflammatory response Orthopnea Endocarditis Pulmonary edema Subarachnoid hemorrhage Cerebral hemorrhage Pyridoxine-responsive sideroblastic anemia Tricuspid regurgitation Easy fatigability Cholestasis Cardiomegaly Mitral valve prolapse Syncope Ascites Jaundice Cognitive impairment Seizures Abnormality of the preputium Parathyroid adenoma Pigmentation of the sclera Stomach cancer Burkitt lymphoma Decreased liver function Nephrolithiasis Primary amenorrhea Amenorrhea Abdominal distention Infertility Synophrys Hyperactivity Vomiting Blindness Depressed nasal bridge Generalized lymphadenopathy Nephrocalcinosis Interstitial pneumonitis Gastritis IgM deficiency Cor pulmonale Brain neoplasm Clubbing of fingers Chronic lung disease Exocrine pancreatic insufficiency Fatigable weakness IgA deficiency Recurrent sinusitis Colitis Aspiration Goiter Clubbing Pituitary hypothyroidism Large cafe-au-lait macules with irregular margins Precocious puberty in females Polyostotic fibrous dysplasia Thyroid nodule Axillary freckling Myelofibrosis Multinodular goiter Hamartomatous polyposis Pseudohypoparathyroidism Craniofacial hyperostosis Intestinal polyposis Syringomyelia Hypercalciuria Osteomalacia Hyperthyroidism Hyperparathyroidism Abnormality of the thyroid gland Pathologic fracture Hypophosphatemia Adrenal insufficiency Hyperostosis Acne Rickets Hypercalcemia Elevated alkaline phosphatase Interstitial pulmonary abnormality Conjunctivitis Hypoplasia of the musculature Nodular goiter Sertoli cell neoplasm Abnormality of the hypothalamus-pituitary axis Abnormal pigmentation of the oral mucosa Peripheral Schwannoma Blue nevus Hepatocellular adenoma Pigmented micronodular adrenocortical disease Histiocytoma Bronchogenic cyst Uterine neoplasm Hypertension associated with pheochromocytoma Vestibular Schwannoma Intra-oral hyperpigmentation Fibroadenoma of the breast Increased urinary cortisol level Adrenal pheochromocytoma Pituitary growth hormone cell adenoma Abnormal prolactin level Recurrent paroxysmal headache Osteochondroma Pancreatic adenocarcinoma Thyroid adenoma Adrenocortical carcinoma Neoplasm of the breast Enlarged polycystic ovaries Abnormality of circulating adrenocorticotropin level Muscle weakness Chronic diarrhea Pheochromocytoma Abnormal lung morphology Recurrent otitis media Asthma Lymphadenopathy Splenomegaly Cutaneous myxoma Myxoid subcutaneous tumors Uterine leiomyoma Follicular thyroid carcinoma Fibroma Paraganglioma Generalized hypopigmentation Dyspnea Macroorchidism Blue irides Bipolar affective disorder Striae distensae Macule Hemangioma Increased body weight Palpitations Abnormality of the skin Papule Myalgia Proximal muscle weakness Abnormal aortic valve morphology Abnormal vertebral morphology Acute monocytic leukemia Small hand Hoarse voice Increased bone mineral density Narrow face Abnormality of the hair Skin ulcer Abnormality of retinal pigmentation Decreased body weight Myocardial infarction Type II diabetes mellitus Decreased testicular size Convex nasal ridge Nephropathy Macular degeneration Retinal degeneration Retinopathy Joint stiffness Micropenis Hyperkeratosis Rod-cone dystrophy Alopecia Abnormality of the dentition Skeletal muscle atrophy Peripheral neuropathy Abnormal serum interferon-gamma level Spontaneous abortion Melanoma Esophageal carcinoma Secondary amenorrhea Peripheral arterial stenosis Abnormality of the cerebral vasculature Renal neoplasm Meningioma Progeroid facial appearance Posterior subcapsular cataract Pulmonary artery stenosis Neoplasm of the lung Alopecia of scalp Premature loss of teeth Subcapsular cataract Telangiectasia of the skin Breast carcinoma Aplasia/Hypoplasia of the skin Decreased fertility Polyphagia High pitched voice Polyuria Rocker bottom foot Abnormality of the thorax Polydipsia Abnormality of the voice Lipodystrophy Dermal atrophy Laryngomalacia Medial calcification of large arteries Oropharyngeal squamous cell carcinoma Chondrocalcinosis Reduced subcutaneous adipose tissue Pulmonary carcinoid tumor Loss of eyelashes Coronary artery stenosis Papillary renal cell carcinoma Mitral valve calcification Abnormality of the pulmonary artery Squamous cell carcinoma of the skin Alopecia universalis Premature skin wrinkling Absent eyelashes Aortic root aneurysm Basal cell carcinoma Abnormality of the intrahepatic bile duct Aplasia/Hypoplasia of the eyebrow Coronary artery atherosclerosis Emphysema Absent eyebrow Intracranial hemorrhage Hypercholesterolemia Aortic valve stenosis Mitral regurgitation Hypertriglyceridemia Ventricular hypertrophy Sparse hair Aortic atherosclerosis Delayed skeletal maturation Susceptibility to herpesvirus Chronic mucocutaneous candidiasis Recurrent Aspergillus infections Carotid artery dilatation Functional abnormality of the bladder Autoimmune neutropenia Renal artery stenosis Renovascular hypertension Antiphospholipid antibody positivity B lymphocytopenia Decrease in T cell count Enterocolitis Generalized osteoporosis Abnormality of the endocrine system Osteopenia Hashimoto thyroiditis Pulmonary embolism Thyroiditis Patent foramen ovale Encephalitis Leukoencephalopathy Lymphopenia Pulmonary arterial hypertension Eczema Hepatitis Sepsis Delayed puberty Lack of skin elasticity Pili torti Abnormality of femur morphology Abnormality of the genital system Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Leukopenia Horseshoe kidney Bone marrow hypocellularity Spina bifida Cardiomyopathy Short thumb Telangiectasia Aganglionic megacolon Choanal atresia Reduced bone mineral density Short palpebral fissure Oligohydramnios Sloping forehead Tetralogy of Fallot Renal agenesis Bruising susceptibility Vertigo Astigmatism Anal atresia Abnormality of the foot Toe syndactyly Hypopigmented skin patches Abnormality of vision Hip dislocation Irregular hyperpigmentation Bicornuate uterus Abnormality of the thumb Abnormality of the uterus Aplastic anemia Abnormality of the upper limb Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality External ear malformation Aplasia/Hypoplasia of the radius Abnormality of the urinary system Absent radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Multiple cafe-au-lait spots Absent thumb Hydroureter Ectopic kidney Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Hyperinsulinemia Dolichocephaly Finger syndactyly Slender build Premature arteriosclerosis Strabismus Micrognathia Nystagmus Hypertelorism Ataxia Scoliosis Microcephaly Intellectual disability Acral lentiginous melanoma Aplasia/Hypoplasia of the testes Neoplasm of the oral cavity Gastrointestinal carcinoma Cryptorchidism Neoplasm of the small intestine Subcutaneous calcification Poliosis Abnormal hair whorl Soft tissue sarcoma Chorioretinitis Cutaneous melanoma Narrow nasal ridge Arteriosclerosis Enlarged joints White forelock Cleft palate Ptosis Small for gestational age Abnormal heart morphology Abnormal cardiac septum morphology Abnormality of the liver Postnatal growth retardation Irritability Abnormality of the kidney Hypertrophic cardiomyopathy Pes planus Umbilical hernia Upslanted palpebral fissure Severe short stature Clinodactyly of the 5th finger Patent ductus arteriosus High palate Hypospadias Abnormality of cardiovascular system morphology Microphthalmia Renal insufficiency Hydrocephalus Ventriculomegaly Abnormality of the skeletal system Frontal bossing Intrauterine growth retardation Hyperreflexia Hepatomegaly Epicanthus Monostotic fibrous dysplasia



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