Congestive heart failure, and Alopecia

Diseases related with Congestive heart failure and Alopecia

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


Top matches:

Medium match NAXOS DISEASE


Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.

NAXOS DISEASE Is also known as keratosis palmoplantaris with arrhythmogenic cardiomyopathy|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|kwwh type i|keratoderma with woolly hair type i|mal de naxos|palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyo

Related symptoms:

  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure
  • Dilatation
  • Arrhythmia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NAXOS DISEASE

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

Low match SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1


Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis

Related symptoms:

  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT HYPOCALCEMIA


Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.

AUTOSOMAL DOMINANT HYPOCALCEMIA Is also known as ad hypocalcemia|hypocalcemia, familial|hypercalciuric hypocalcemia

Related symptoms:

  • Seizures
  • Short stature
  • Optic atrophy
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT HYPOCALCEMIA

Low match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

Low match 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D


3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D Is also known as 3-methylcrotonylglycinuria ii|mcc2 deficiency|methylcrotonylglycinuria, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D

Low match ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5


Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

Low match FIBRODYSPLASIA OSSIFICANS PROGRESSIVA


Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Is also known as stone man syndrome|fop|myositis ossificans progressiva

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

Low match DK1-CDG


DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Alopecia

Symptoms // Phenotype % cases
Fatigue Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Global developmental delay Dilatation Hyperkeratosis Pain Depressivity Elevated hepatic transaminase Cyanosis Failure to thrive Strabismus Neoplasm Scoliosis Hepatic steatosis Sensorineural hearing impairment Hepatomegaly Splenomegaly Dilated cardiomyopathy Hypertension Hearing impairment

Rare Symptoms - Less than 30% cases


Hypoglycemia Mitral regurgitation Abdominal pain Aortic valve stenosis Arthralgia Conductive hearing impairment Dry skin Retinopathy Arthropathy Increased serum ferritin Intellectual disability, mild Osteoporosis Ascites Low-set ears Limitation of joint mobility Abnormality of the skeletal system Hyperpigmentation of the skin Respiratory insufficiency Impotence Lipoatrophy Diabetes mellitus Hypoventilation Generalized hypotonia Muscular hypotonia Hypogonadism Hepatocellular carcinoma Kyphosis Myocardial infarction Aspiration Cirrhosis Clinodactyly Sparse and thin eyebrow Basal ganglia calcification Sparse scalp hair Short neck Pectus excavatum Cardiomegaly Anemia Flexion contracture Syncope Vertigo Protruding ear Webbed neck Triangular face Respiratory failure Abnormal heart morphology Ventricular tachycardia Epicanthus Ptosis Growth delay Cleft palate Exertional dyspnea Alopecia of scalp Bilateral talipes equinovarus Hamartoma Hypotrichosis Exostoses Abnormal vertebral morphology Respiratory tract infection Ankylosis Finger clinodactyly Widely spaced teeth Sarcoma Spinal rigidity Metaphyseal widening Back pain Difficulty walking Glaucoma Pneumonia Hallux valgus Short thumb Clinodactyly of the 5th finger Subcutaneous nodule Decreased palmar creases Fever Bilateral ptosis Abnormality of the hip bone Vertebral segmentation defect Long fingers Restrictive ventilatory defect Macular dystrophy Decreased muscle mass Mask-like facies Congenital contracture Abnormal electroretinogram Abnormality of the sternum Adducted thumb Bilateral single transverse palmar creases Narrow face Joint contracture of the hand Abnormality of retinal pigmentation Abnormal lung morphology Lumbar hyperlordosis Wide intermamillary distance Abnormality of skin pigmentation Tarsal synostosis Keratoconus Internally rotated shoulders Keratoglobus Exophoria Firm muscles Decreased facial expression Amyoplasia Limited wrist extension Absent phalangeal crease Congenital finger flexion contractures Round ear Myositis Ulnar deviation of finger Ulnar deviation of the wrist Duane anomaly Unilateral ptosis Retinal fold Tapetoretinal degeneration Abnormality of the rib cage Overlapping fingers Distal arthrogryposis Aplasia/Hypoplasia of the radius Broad neck Cognitive impairment Short hallux Kyphoscoliosis Abnormality of the genital system Depressed nasal ridge Overgrowth Chest pain Delayed puberty Pulmonic stenosis Pectus carinatum Hypertrophic cardiomyopathy Neonatal hypotonia Mandibular prognathia Scapular winging Micropenis Posteriorly rotated ears Hypospadias Abnormality of cardiovascular system morphology Delayed speech and language development Cryptorchidism Hypertelorism Aplasia of the fingers Adactyly Abnormal isoelectric focusing of serum transferrin Cafe-au-lait spot Spina bifida occulta Type I transferrin isoform profile Abnormal mitral valve morphology Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Delayed menarche Parietal bossing Multiple lentigines Limited elbow movement Subvalvular aortic stenosis Abnormal aortic valve morphology Hyposmia Mutism Angina pectoris Missing ribs Heart block Multiple cafe-au-lait spots Severe hearing impairment Bundle branch block Bilateral cryptorchidism Unilateral renal agenesis Cubitus valgus Pterygium Reduced antithrombin III activity Aplasia/Hypoplasia of the nipples Short 1st metacarpal Ectopic ossification in ligament tissue Elevated serum creatine phosphokinase Absent speech Renal insufficiency Astigmatism Muscle weakness Nystagmus Aplasia/Hypoplasia of the phalanges of the hallux Abnormality of the first metatarsal bone Progressive cervical vertebral spine fusion Ectopic ossification in tendon tissue Ectopic ossification in muscle tissue Myalgia Small cervical vertebral bodies Ectopic ossification Fibrosarcoma Osteochondroma Synostosis of joints Soft tissue sarcoma Low-grade fever Overbite Stiff neck Broad femoral neck Cerebral cortical atrophy Apnea Congenital hepatic fibrosis Leukopenia Hypoketotic hypoglycemia Myocarditis Epileptic spasms Microcytic anemia Neurodevelopmental delay Abnormality of coagulation Hyperglycemia Ventricular fibrillation Erythroderma Sacral dimple Severe muscular hypotonia Ichthyosis Sparse eyelashes Recurrent pneumonia Bradycardia Postnatal microcephaly Thin skin Inflammatory abnormality of the skin Hypsarrhythmia Abnormal bleeding Tetraplegia Neutropenia Arachnodactyly Decreased plasma carnitine Abnormality of the foot Absent eyelashes 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 Aortic root aneurysm Aortic atherosclerosis Prematurely aged appearance Scleroderma Reduced subcutaneous adipose tissue Basal cell carcinoma Aplasia/Hypoplasia of the eyebrow Premature graying of hair Coronary artery atherosclerosis Emphysema Pulmonary carcinoid tumor Abnormality of the intrahepatic bile duct Intracranial hemorrhage Muscle cramps Abnormality of the fingernails Nephrocalcinosis Hypocalcemia EMG abnormality Abnormality of the nail Nephrolithiasis Eczema Hypotension Paresthesia Peripheral neuropathy Anxiety Behavioral abnormality Optic atrophy Abnormality of the hypothalamus-pituitary axis Chondrocalcinosis Exocrine pancreatic insufficiency Joint dislocation Gynecomastia Cholestasis Absent eyebrow Hypercholesterolemia Reduced bone mineral density Abnormal blistering of the skin Akinesia Brittle hair Ventricular arrhythmia Acanthosis nigricans Cardiac arrest Long eyelashes Palpitations Epidermal acanthosis Ectodermal dysplasia Fragile skin Sudden cardiac death Sepsis Palmoplantar keratoderma Tachycardia Cleft upper lip Nail dystrophy Erythema Dyspnea Hyperhidrosis Right bundle branch block Curly hair Atherosclerosis Prolonged QRS complex Hypertriglyceridemia Ventricular hypertrophy Sparse hair Abnormal morphology of right ventricular trabeculae Ventricular flutter Abnormal right ventricle morphology Paroxysmal ventricular tachycardia Right ventricular dilatation Abnormal T-wave Ventricular extrasystoles Acantholysis Abnormality of hair texture Right ventricular cardiomyopathy T-wave inversion Hypergranulosis Onycholysis Reduced ejection fraction Clubbing of fingers Woolly hair Increased intracranial pressure Hypercalciuria Abnormality of eye movement Acidosis Ketoacidosis Opisthotonus Hyperammonemia Progressive neurologic deterioration Dehydration Coma Metabolic acidosis Lethargy Encephalopathy Organic aciduria Cerebral atrophy Vomiting Myopathy Ventriculomegaly Macrocephaly Skeletal muscle atrophy Hyperreflexia Feeding difficulties Elevated transferrin saturation Ketonuria Seborrheic dermatitis Constrictive pericarditis Narrow mouth Hypermetropia Ophthalmoplegia Arthrogryposis multiplex congenita Blepharophimosis Joint stiffness Hyperlordosis Camptodactyly Deeply set eye Areflexia Hyperglycinuria Talipes equinovarus Wide nasal bridge High palate Micrognathia Acute hyperammonemia Propionyl-CoA carboxylase deficiency Necrotizing encephalopathy Encephalomalacia Neutrophilia Aceruloplasminemia Cholangiocarcinoma Hypokalemia Increased circulating renin level Osteopenia Recurrent infections Ataxia Hypermagnesiuria Laryngospasm Cortical myoclonus Hypocalcemic seizures Writer's cramp Abnormal pattern of respiration Arthritis Abnormal renal physiology Tetany Reduced consciousness/confusion Hyperphosphatemia Hypomagnesemia Hypoparathyroidism Irregular hyperpigmentation Fatigable weakness Emotional lability Carcinoma Abnormality of the liver Increased serum iron Pericarditis Microvesicular hepatic steatosis Abnormal glucose tolerance Alcoholism Testicular atrophy Restrictive cardiomyopathy Neoplasm of the liver Acute hepatic failure Increased reactive oxygen species production Osteomalacia Hepatic failure Abnormal joint morphology Pleural effusion Azoospermia Hypogonadotrophic hypogonadism Insulin resistance Hepatic fibrosis Telangiectasia Hepatitis Amenorrhea Aplasia of the ovary



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