Congestive heart failure, and Hemolytic anemia

Diseases related with Congestive heart failure and Hemolytic anemia

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


Top matches:

Low match TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY


Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Low match MCLEOD NEUROACANTHOCYTOSIS SYNDROME


McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

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

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Other less relevant matches:

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 AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Low match SARCOIDOSIS


Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

Low match HEMOCHROMATOSIS, TYPE 2B; HFE2B


Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by Roetto et al., 1999). HFE2B is caused by mutation in the HAMP gene (OMIM ). HFE2 is genetically heterogeneous (see HFE2A, {602390}).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Cardiomyopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM MESH MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 2B; HFE2B

Low match HB BART'S HYDROPS FETALIS


Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.

HB BART'S HYDROPS FETALIS Is also known as alpha-thalassemia major|alpha-thalassemia hydrops fetalis|homozygous alpha0-thalassemia|hemoglobin bart's hydrops fetalis

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Hydrocephalus
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about HB BART'S HYDROPS FETALIS

Low match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II


Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II Is also known as dyserythropoietic anemia, congenital, type ii|cda ii|sec23b-cdg|hempas|hereditary erythroblastic multinuclearity with positive acidified-serum test|cda type ii|cda type 2|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hemp

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Congestive heart failure
  • Splenomegaly
  • Arrhythmia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II

Top 5 symptoms//phenotypes associated to Congestive heart failure and Hemolytic anemia

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% cases
Splenomegaly Common - Between 50% and 80% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Thrombocytopenia Hepatosplenomegaly Arrhythmia Recurrent respiratory infections Hypothyroidism Inflammation of the large intestine Recurrent infections Bronchiectasis Oligohydramnios Cor pulmonale Immune dysregulation Peripheral neuropathy Pancytopenia Muscle weakness Arthritis Growth delay Respiratory distress Cardiomyopathy

Rare Symptoms - Less than 30% cases


Failure to thrive Inflammatory abnormality of the skin Purpura Type I diabetes mellitus Abnormal lung morphology Lower limb muscle weakness Confusion Paresthesia Memory impairment Diarrhea Fatigue Neutropenia Lymphadenopathy Autoimmunity Abnormal intestine morphology Diabetes mellitus Pneumonia Immunodeficiency Gait disturbance Autoimmune thrombocytopenia Recurrent upper respiratory tract infections Hypertension Visual impairment Hydrocephalus Renal insufficiency Weight loss Emphysema Recurrent urinary tract infections Anorexia Hip dislocation Generalized hypotonia Abnormal facial shape Interstitial pulmonary abnormality Microcephaly Hearing impairment Intellectual disability Pulmonary arterial hypertension Dilatation Generalized lymphadenopathy Gastritis Villous atrophy Elevated hepatic transaminase Autoimmune hemolytic anemia Mental deterioration Cataract Muscular hypotonia Cerebral atrophy Dyskinesia Neuronal loss in central nervous system Pallor Involuntary movements Cholelithiasis Chronic hemolytic anemia Congenital hemolytic anemia Cirrhosis Short stature Respiratory tract infection Jaundice Respiratory failure Babinski sign Areflexia Unsteady gait Tremor Skeletal muscle atrophy Dyspnea Myopathy Dementia Dystonia Depressivity Difficulty walking Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Urogenital fistula Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Cystathioninemia Delirium Abnormality of macular pigmentation Cerebral cortical atrophy Methylmalonic acidemia Diffuse hepatic steatosis Intellectual disability, severe Thyroglossal cyst Proximal muscle weakness Hepatic failure Anemia of inadequate production Papule Cough Scarring Erythema Facial palsy Photophobia Hemolytic-uremic syndrome Respiratory insufficiency Glaucoma Alopecia Headache Blindness Edema Fever Pain Atrophy of the spinal cord Right ventricular failure Proteinuria Long face Aciduria Urinary incontinence Metabolic acidosis Hepatic steatosis Macrotia Hematuria Nephropathy Joint hypermobility Abnormality of skin pigmentation Abnormality of extrapyramidal motor function Retinal degeneration Smooth philtrum Increased total bilirubin Malabsorption Congenital cataract Lethargy Retinopathy Feeding difficulties in infancy Pigmentary retinopathy Psychosis Myelopathy Increased hemoglobin Homocystinuria Gait ataxia Chronic myelogenous leukemia Reduced visual acuity Methylmalonic aciduria Acidosis Megaloblastic anemia Hypopigmentation of the skin Disproportionate tall stature Broad-based gait Apathy Ectopia lentis Hemiplegia Slurred speech Atherosclerosis Abnormality of retinal pigmentation Congenital hypoplastic anemia High forehead Thromboembolism Syncope Gout Skin nodule Abnormality of the cerebrospinal fluid Cystoid macular edema Chylothorax Vitreous hemorrhage Abnormality of the pleura Pneumothorax Anterior synechiae of the anterior chamber Night sweats Bone cyst Skin plaque Macular edema Upper airway obstruction Abnormality of the gastrointestinal tract Tubulointerstitial nephritis Hypothermia Increased CSF protein Heart block Joint swelling Uveitis Erythema nodosum Abnormality of the lymph nodes Hemoptysis Posterior vitreous detachment Abnormal cardiac ventricular function Abnormality of the nasal mucosa Parotitis Abnormal liver parenchyma morphology Non-caseating epithelioid cell granulomatosis Maculopapular exanthema Endopolyploidy on chromosome studies of bone marrow Abnormality of T cell physiology Enlargement of parotid gland Abnormality of skin morphology Abnormality of the adrenal glands Abnormal reproductive system morphology Vitritis Vitreous floaters Abnormal conjunctiva morphology Iridocyclitis Abnormal salivary gland morphology Anterior uveitis Dacryocystitis Chorioretinitis Optic neuropathy Keratoconjunctivitis sicca Chest pain Osteolysis Preeclampsia Hypercalciuria Abnormal hemoglobin Abnormality of the liver Eosinophilia Leukemia Ventricular tachycardia Hyperbilirubinemia Leukopenia Nephrocalcinosis Pericarditis Decreased liver function Prolonged neonatal jaundice Hyperpigmentation of the skin Nephrolithiasis Subcutaneous nodule Reticulocytosis Palpitations Increased T cell count Sudden cardiac death Hypercalcemia Hydrops fetalis Hyperuricemia Abnormal trabecular meshwork morphology Hyperthyroidism Abnormality of the musculature Elevated erythrocyte sedimentation rate Chorioretinal atrophy Increased antibody level in blood Enlarged lacrimal glands Blurred vision Vitreous snowballs Pulmonary granulomatosis Increased red cell osmotic fragility Portal hypertension Hypogonadism Feeding difficulties Increased serum ferritin Pulmonary fibrosis Increased serum iron Epiphora Pleural effusion Abnormality of iron homeostasis Polyhydramnios Diabetes insipidus Osteoporosis Low-set ears Bipolar affective disorder Excessive salivation Orofacial dyskinesia Tics Acanthocytosis Supraventricular tachycardia Motor axonal neuropathy Left bundle branch block Ventricular extrasystoles Insomnia Increased muscle fatiguability Restlessness Impaired pain sensation Impaired vibration sensation in the lower limbs Rhabdomyolysis Bowel incontinence Sensory axonal neuropathy Ventricular fibrillation Emotional lability Personality changes Hyporeflexia of lower limbs Personality disorder Ventricular arrhythmia Neoplasm Clubbing Conjunctivitis Chronic diarrhea Recurrent otitis media Otitis media Decreased antibody level in blood Lymphoma Asthma Abnormality of the astrocytes Generalized limb muscle atrophy Hyporeflexia of upper limbs Abnormal facial expression Blood group antigen abnormality Recurrent singultus Abnormal corpus striatum morphology Caudate atrophy Abnormal lactate dehydrogenase activity Abnormal social behavior Impaired temperature sensation Obsessive-compulsive behavior Sleep apnea Colitis Progressive muscle weakness Nonspherocytic hemolytic anemia Cholecystitis Normocytic anemia Diaphragmatic paralysis Abnormality of immune system physiology Macrocytic anemia Decreased nerve conduction velocity Respiratory insufficiency due to muscle weakness Intention tremor Abnormal posturing Optic disc pallor Limb muscle weakness Abnormal pyramidal sign Hypertrophic cardiomyopathy Hyporeflexia Kyphosis Hyperreflexia Motor delay Spasticity Normochromic anemia Central nervous system degeneration Cardiac arrest Abnormality of movement Sensorimotor neuropathy Hallucinations Left ventricular hypertrophy Atrial fibrillation Generalized-onset seizure Chorea Parkinsonism Sensory neuropathy Abnormality of the cerebral white matter Cognitive impairment Dilated cardiomyopathy Anxiety Rigidity Hyperhidrosis Elevated serum creatine phosphokinase Behavioral abnormality Hypertonia Dysphagia Dysarthria Combined immunodeficiency Recurrent sinusitis Nystagmus Arachnodactyly Wormian bones Abnormality of the face Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Overgrowth Vesicoureteral reflux Full cheeks Recurrent fractures Joint hyperflexibility Shock Pulmonic stenosis Joint laxity Umbilical hernia Arthralgia Inguinal hernia Pectus excavatum Hypospadias Hernia Ptosis Cutis laxa Redundant skin Sensorineural hearing impairment Arterial stenosis Ataxia Renal diverticulum Bowel diverticulosis Arterial fibromuscular dysplasia Supravalvular aortic stenosis Vascular tortuosity Dermal translucency Ascending tubular aorta aneurysm Ileus Aortic aneurysm Bladder diverticulum Atelectasis Premature skin wrinkling Pulmonary artery stenosis Shawl scrotum Prematurely aged appearance Progressive sensorineural hearing impairment Delayed cranial suture closure Epiphyseal dysplasia Cryptorchidism Abnormal serum interferon-gamma level IgA deficiency Delayed skeletal maturation Leukoencephalopathy Lymphopenia Eczema Hepatitis Sepsis Delayed puberty Carcinoma Osteopenia Burkitt lymphoma Patent foramen ovale Follicular hyperplasia Interstitial pneumonitis IgM deficiency Verrucae Brain neoplasm Clubbing of fingers Chronic lung disease Exocrine pancreatic insufficiency Fatigable weakness Encephalitis Thyroiditis Medial calcification of large arteries Renovascular hypertension 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 Antiphospholipid antibody positivity Pulmonary embolism B lymphocytopenia Primary hypothyroidism Decrease in T cell count Enterocolitis Generalized osteoporosis Chronic mucocutaneous candidiasis Abnormality of the endocrine system Dilatation of the cerebral artery Hashimoto thyroiditis Reduced activity of N-acetylglucosaminyltransferase II



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