Congestive heart failure, and Inflammatory abnormality of the skin

Diseases related with Congestive heart failure and Inflammatory abnormality of the skin

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


Top matches:

Low match POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1


Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

Low match NEUTRAL LIPID STORAGE MYOPATHY


Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

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 NAKAJO-NISHIMURA SYNDROME


Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

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 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 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 KAWASAKI DISEASE


Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

KAWASAKI DISEASE Is also known as kd|infantile polyarteritis|mucocutaneous lymph node syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Ptosis
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KAWASAKI DISEASE

Top 5 symptoms//phenotypes associated to Congestive heart failure and Inflammatory abnormality of the skin

Symptoms // Phenotype % cases
Arrhythmia Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Dilatation Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Immunodeficiency Diabetes mellitus Recurrent upper respiratory tract infections Bronchiectasis Respiratory tract infection Diarrhea Arthritis Skeletal muscle atrophy Short stature Pneumonia Leukocytosis Fever Growth delay Eczema Myopathy Hepatosplenomegaly Elevated hepatic transaminase Hepatomegaly Cardiomyopathy Failure to thrive Muscle weakness

Rare Symptoms - Less than 30% cases


Skin rash Carious teeth Neutropenia Decreased antibody level in blood Hypothyroidism Autoimmunity Meningitis Carcinoma Respiratory failure Hemolytic anemia Lymphoma Combined immunodeficiency Purpura Splenomegaly Erythema Autoimmune hemolytic anemia Interstitial pulmonary abnormality Inflammation of the large intestine Abnormal intestine morphology Arthralgia Immune dysregulation Autoimmune thrombocytopenia Conjunctivitis Type I diabetes mellitus Right bundle branch block Verrucae Elevated erythrocyte sedimentation rate Otitis media Anemia Neoplasm Alopecia Ptosis Elevated serum creatine phosphokinase Proximal muscle weakness Myalgia Dilated cardiomyopathy Progressive muscle weakness Psoriasiform dermatitis Progressive proximal muscle weakness Recurrent pharyngitis Generalized hypotonia Hearing impairment Recurrent respiratory infections Pain Abdominal pain Sensorineural hearing impairment Cardiomegaly Depressivity Hepatitis Ichthyosis Hepatic steatosis Thrombocytopenia Villous atrophy Clubbing of fingers Seizures Fatigable weakness Global developmental delay Delayed skeletal maturation Cor pulmonale Osteopenia Patent foramen ovale Delayed puberty Follicular hyperplasia IgM deficiency Gastritis Burkitt lymphoma Interstitial pneumonitis Leukoencephalopathy Lymphopenia Pulmonary arterial hypertension Sepsis Generalized lymphadenopathy Encephalitis Scoliosis Brain neoplasm Necrotizing encephalopathy Progressive neurologic deterioration Hyperammonemia Opisthotonus Hypoventilation Ketoacidosis Ketonuria Organic aciduria Seborrheic dermatitis Decreased plasma carnitine Hyperglycinuria Neutrophilia Encephalomalacia Propionyl-CoA carboxylase deficiency Chronic lung disease Acute hyperammonemia Pulmonary embolism Asthma Pancytopenia Recurrent otitis media Abnormal lung morphology Chronic diarrhea Clubbing Colitis Recurrent sinusitis IgA deficiency Exocrine pancreatic insufficiency Thyroiditis Headache Hashimoto thyroiditis Ascending tubular aorta aneurysm Hyponatremia Coronary artery atherosclerosis Abnormal heart valve morphology Pericarditis Acute kidney injury Aortic root aneurysm Tubulointerstitial nephritis Myocarditis Allergy Abnormal myocardium morphology Inflammatory abnormality of the eye Elevated C-reactive protein level Cheilitis Synovitis Cholecystitis Hypoalbuminemia Abnormality of nail color Aseptic leukocyturia Strawberry tongue Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Abnormal emotion/affect behavior Pyuria Arthralgia/arthritis Coronary artery aneurysm Abnormal oral mucosa morphology Cervical lymphadenopathy CSF pleocytosis Conjunctival hyperemia Abnormal pericardium morphology Arteritis Glossitis Scaling skin Ischemic stroke Dilatation of the cerebral artery Antiphospholipid antibody positivity Recurrent Aspergillus infections Carotid artery dilatation Functional abnormality of the bladder Autoimmune neutropenia Renal artery stenosis Renovascular hypertension B lymphocytopenia Oropharyngeal squamous cell carcinoma Primary hypothyroidism Decrease in T cell count Enterocolitis Generalized osteoporosis Chronic mucocutaneous candidiasis Abnormality of the endocrine system Susceptibility to herpesvirus Esophageal carcinoma Cranial nerve paralysis Hematuria Vasculitis Decreased liver function Cholestasis Mitral regurgitation Myocardial infarction Migraine Nausea and vomiting Medial calcification of large arteries Irritability Proteinuria Jaundice Cyanosis Edema Abnormal serum interferon-gamma level Dehydration Oligodontia Coma Thick lower lip vermilion Tonsillitis Hypersegmentation of neutrophil nuclei Bone marrow hypercellularity Myelokathexis Respiratory insufficiency Intellectual disability, mild Hyperhidrosis Macrotia Joint stiffness Abnormal pyramidal sign Arthrogryposis multiplex congenita Arachnodactyly Macroglossia Prominent nose Abnormality of the face Folliculitis Subcutaneous nodule Lipodystrophy Hyperostosis Increased antibody level in blood Microcytic anemia Lipoatrophy Episodic fever Erythema nodosum Clubbing of toes Abnormality of the Leydig cells Optic atrophy Behavioral abnormality Anxiety Paresthesia Septic arthritis Abnormality of bone marrow cell morphology Muscle cramps Hyperlipidemia Abnormality of the liver Severe failure to thrive Pyelonephritis Gastrointestinal inflammation Pharyngitis Obesity Areflexia Difficulty walking Distal muscle weakness Waddling gait Hypertriglyceridemia Insulin resistance Fasciculations Exercise intolerance Easy fatigability Abnormality of female external genitalia Gowers sign Difficulty running Neck muscle weakness Increased muscle lipid content Recurrent urinary tract infections Sinusitis Recurrent bacterial infections Osteomyelitis Cellulitis IgG deficiency Periodontitis B-cell lymphoma Atelectasis Abnormality of female internal genitalia Dry skin Hypotension Metabolic acidosis Selective tooth agenesis Reduced number of teeth Absent eyebrow Loss of consciousness Bundle branch block Aplasia/Hypoplasia of the eyebrow Hypokinesia Agenesis of permanent teeth Parakeratosis Abnormal EKG Fragile nails Woolly hair Myocardial fibrosis Leukonychia Right ventricular cardiomyopathy Reduced systolic function Palpitations Gingival recession Agenesis of molar Intellectual disability Muscular hypotonia Feeding difficulties Hyperreflexia Macrocephaly Ventriculomegaly Vomiting Cerebral atrophy Encephalopathy Acidosis Hypoglycemia Lethargy Ventricular tachycardia Syncope Nephrolithiasis Hyperphosphatemia Abnormality of the nail EMG abnormality Hypocalcemia Nephrocalcinosis Abnormality of the fingernails Increased intracranial pressure Reduced bone mineral density Hypercalciuria Hypokalemia Emotional lability Basal ganglia calcification Irregular hyperpigmentation Hypoparathyroidism Hypomagnesemia Reduced consciousness/confusion Sudden cardiac death Hypermagnesiuria Chest pain Palmoplantar keratoderma Tachycardia Nail dystrophy Pruritus Hyperkeratosis Laryngospasm Tetany Cortical myoclonus Hypocalcemic seizures Writer's cramp Increased circulating renin level Abnormal pattern of respiration Abnormal renal physiology Abnormal gallbladder morphology



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