Congestive heart failure, and Systemic lupus erythematosus

Diseases related with Congestive heart failure and Systemic lupus erythematosus

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


Top matches:

Low match SCOTT SYNDROME


Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.

SCOTT SYNDROME Is also known as bleeding abnormality due to deficiency of platelet binding of factor x|prothrombin consumption inhibitor, familial|bleeding disorder, platelet-type, 7|bdplt7|prothrombin consumption deficiency|prothrombin conversion defect, familial

Related symptoms:

  • Abnormal bleeding
  • Epistaxis
  • Systemic lupus erythematosus
  • Intramuscular hematoma
  • Hyphema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCOTT SYNDROME

Low match CHILBLAIN LUPUS


Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE ) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by Lee-Kirsch et al., 2006). Genetic Heterogeneity of Chilblain LupusSee also CHBL2 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20q11.Mutations in the TREX1 and SAMHD1 genes also cause Aicardi-Goutieres syndrome (AGS1, {225750} and AGS5, {612952}, respectively).

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Arthralgia
  • Abnormality of skin pigmentation
  • Hypopigmentation of the skin


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHILBLAIN LUPUS

Low match THYROTOXIC PERIODIC PARALYSIS


Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

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Other less relevant matches:

Low match DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS


Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

Low match COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD


COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD Is also known as c4b deficiency

Related symptoms:

  • Hypertension
  • Thrombocytopenia
  • Diabetes mellitus
  • Hepatitis
  • Nephrotic syndrome


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD

Low match COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD


COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD Is also known as c4a deficiency

Related symptoms:

  • Hypertension
  • Diabetes mellitus
  • Hepatitis
  • Nephrotic syndrome
  • Cutaneous photosensitivity


SOURCES: MESH OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD

Low match VON WILLEBRAND DISEASE TYPE 1


Type 1 von Willebrand disease (type 1 VWD) is a form of VWD (see this term) characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).

VON WILLEBRAND DISEASE TYPE 1 Is also known as von willebrand disease, type i|vwd, type 1

Related symptoms:

  • Autoimmunity
  • Bruising susceptibility
  • Gastrointestinal hemorrhage
  • Mitral valve prolapse
  • Epistaxis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about VON WILLEBRAND DISEASE TYPE 1

Low match COMPLEMENT COMPONENT 2 DEFICIENCY; C2D


COMPLEMENT COMPONENT 2 DEFICIENCY; C2D Is also known as c2 deficiency

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Immunodeficiency
  • Recurrent infections
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 2 DEFICIENCY; C2D

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Systemic lupus erythematosus

Symptoms // Phenotype % cases
Hypertension Common - Between 50% and 80% cases
Autoimmunity Uncommon - Between 30% and 50% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Purpura Uncommon - Between 30% and 50% cases
Arthritis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Immunodeficiency Recurrent infections Arthralgia

Rare Symptoms - Less than 30% cases


Epistaxis Glomerulonephritis Chronic active hepatitis Complement deficiency Diarrhea Meningitis Nephrotic syndrome Hepatitis Hyperhidrosis Thrombocytopenia Renal insufficiency Weight loss Vasculitis Constipation Muscle weakness Splenomegaly Fatigable weakness Cutaneous photosensitivity Skin ulcer Hepatosplenomegaly Antinuclear antibody positivity Lipodystrophy Clitoral hypertrophy Large hands Skeletal muscle hypertrophy High pitched voice Polyphagia Insulin-resistant diabetes mellitus Lipoatrophy Polycystic ovaries Abnormality of lipid metabolism Oligomenorrhea Long foot Angina pectoris Hernia Dilatation Abnormality of the ovary Bone cyst Intellectual disability, mild Hyperinsulinemia Insulin resistance Hyperlipidemia Hypertrichosis Hypertrophic cardiomyopathy Elevated hepatic transaminase Hirsutism Hepatic steatosis Nephropathy Triangular face Epidermal acanthosis Hypertriglyceridemia Abnormality of the genital system Acanthosis nigricans Glioma Tall stature Umbilical hernia Macrotia Mandibular prognathia Nephrolithiasis Cirrhosis Accelerated skeletal maturation Abnormal bleeding Insulin-resistant diabetes mellitus at puberty Acute pancreatitis Autoimmune thrombocytopenia Type I diabetes mellitus Conjunctivitis Abnormal intestine morphology Recurrent upper respiratory tract infections Clubbing Inflammation of the large intestine Combined immunodeficiency Interstitial pulmonary abnormality Colitis Autoimmune hemolytic anemia Recurrent sinusitis IgA deficiency Exocrine pancreatic insufficiency Bronchiectasis Chronic lung disease Clubbing of fingers Villous atrophy Brain neoplasm Verrucae Cor pulmonale Immune dysregulation IgM deficiency Gastritis Interstitial pneumonitis Generalized lymphadenopathy Follicular hyperplasia Chronic diarrhea Abnormal lung morphology Generalized lipodystrophy Anemia Decreased fertility in females Congenital generalized lipodystrophy Decreased serum leptin Prominent umbilicus Hepatomegaly Reduced intrathoracic adipose tissue Cystic angiomatosis of bone Labial hypertrophy Generalized muscular appearance from birth Growth delay Neoplasm Failure to thrive Pneumonia Recurrent otitis media Recurrent respiratory infections Respiratory failure Hypothyroidism Respiratory tract infection Lymphadenopathy Hemolytic anemia Neutropenia Asthma Lymphoma Decreased antibody level in blood Otitis media Pancytopenia Inflammatory abnormality of the skin Cardiomyopathy Joint hemorrhage Peripheral neuropathy Urinary retention Mildly elevated creatine phosphokinase Prolonged QT interval Hyperthyroidism Rhabdomyolysis Thyroiditis Hashimoto thyroiditis Hypomagnesemia Heat intolerance Graves disease Abnormality of peripheral nerve conduction Periodic paralysis Ventricular fibrillation Abnormality of muscle fibers Postprandial hyperglycemia Impaired myocardial contractility Shortened PR interval Increased intramyocellular lipid droplets Periodic hypokalemic paresis Exercise-induced muscle fatigue Late-onset proximal muscle weakness Respiratory paralysis Episodic flaccid weakness Hyperkalemia Myotonia Thyrotoxicosis with diffuse goiter Obesity Intramuscular hematoma Hyphema Factor X activation deficiency Abnormality of skin pigmentation Hypopigmentation of the skin Abnormality of the nail Dermal atrophy Raynaud phenomenon Hyperreflexia Tremor Hyporeflexia Ophthalmoparesis Proptosis Paralysis Lower limb muscle weakness Tachycardia Muscle cramps Tetraplegia Palpitations Muscle stiffness EMG abnormality Goiter Hypokalemia Second degree atrioventricular block Episodic hypokalemia Cognitive impairment Reduced factor VIII activity Abnormal bowel sounds Decreased serum complement C4b Bruising susceptibility Gastrointestinal hemorrhage Mitral valve prolapse Aortic valve stenosis Abnormality of the genitourinary system Menorrhagia Prolonged bleeding time Impaired platelet aggregation Prolonged bleeding after surgery Hypertensive crisis Gastrointestinal angiodysplasia Prolonged whole-blood clotting time Skin rash Leukemia Rheumatoid arthritis Membranoproliferative glomerulonephritis Angioedema Discoid lupus rash Vasculitis in the skin Intellectual disability Narrow foramen obturatorium Decreased urine output Decreased urinary potassium Malabsorption Transient hypophosphatemia Thyrotoxicosis with toxic single thyroid nodule Thyrotoxicosis with toxic multinodular goitre Pain Flexion contracture Dysphagia Vomiting Dyspnea Gastroesophageal reflux Carious teeth Nausea and vomiting Dyspareunia Abnormality of the skin Pulmonary arterial hypertension Telangiectasia Osteolysis Pulmonary fibrosis Telangiectasia of the skin Scleroderma Xerostomia Pulmonary infiltrates Osteolytic defects of the phalanges of the hand Oliguria Burkitt lymphoma



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