Cardiomyopathy, and Ulcerative colitis

Diseases related with Cardiomyopathy and Ulcerative colitis

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Ulcerative colitis that can help you solving undiagnosed cases.


Top matches:

Medium match HERMANSKY-PUDLAK SYNDROME 1; HPS1


Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Low match HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1


Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

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

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Other less relevant matches:

Low match LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY


Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Low match ARTERIAL TORTUOSITY SYNDROME


Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Low match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Low match FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2


Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016).For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2

Low match INFLAMMATORY BOWEL DISEASE 29; IBD29


Inflammatory bowel disease is a chronic inflammatory condition of the gastrointestinal tract (summary by Mohanan et al., 2018).For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (OMIM ).

Related symptoms:

  • Inflammation of the large intestine
  • Colitis
  • Ulcerative colitis


SOURCES: OMIM MENDELIAN

More info about INFLAMMATORY BOWEL DISEASE 29; IBD29

Low match AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6


Related symptoms:

  • Arthritis
  • Systemic lupus erythematosus
  • Rheumatoid arthritis
  • Colitis
  • Ulcerative colitis


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6

Low match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Ulcerative colitis

Symptoms // Phenotype % cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Anorexia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Ulcerative colitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dilated cardiomyopathy Dyspnea Fever Hypertension Gastrointestinal inflammation Failure to thrive Global developmental delay Inflammation of the large intestine Muscular hypotonia Pain Scoliosis Colitis Macrocephaly Diarrhea Hypertrophic cardiomyopathy Abnormality of the liver Photophobia Cataract Myopia Hepatomegaly Renal insufficiency Myopathy Abdominal pain Weight loss Coma Elevated serum creatine phosphokinase Strabismus Elevated hepatic transaminase Myalgia

Rare Symptoms - Less than 30% cases


Arthritis Visual loss Generalized hypotonia Progressive proximal muscle weakness Proximal muscle weakness Rheumatoid arthritis Feeding difficulties Muscle weakness Vomiting Lymphadenopathy Pancreatitis Jaundice Cardiac arrest Stridor Nausea and vomiting Abnormality of the pinna Arthralgia Headache Behavioral abnormality Gait disturbance Depressed nasal bridge Ataxia Abnormal myocardium morphology Cardiorespiratory arrest Pyloric stenosis Coxa valga Myocardial infarction Hypoglycemia Joint hyperflexibility Gastroesophageal reflux Respiratory failure Scarring Dilatation Respiratory distress Hypertelorism Reye syndrome-like episodes Elevated plasma acylcarnitine levels Hypoketotic hypoglycemia Decreased liver function Metabolic acidosis Hepatic steatosis Nausea Rhabdomyolysis Retinopathy Acute kidney injury Immunodeficiency Hemiparesis Blindness Gastrointestinal hemorrhage Restrictive ventilatory defect Abnormality of metabolism/homeostasis Recurrent infections Edema Hypopigmentation of the skin Malabsorption Orchitis Hepatic periportal necrosis Electron transfer flavoprotein-ubiquinone oxidoreductase defect Narcolepsy Arthralgia of the hip Glutaric acidemia Increased muscle lipid content Reduced protein C activity Ketotic hypoglycemia Hypersarcosinemia Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Retrobulbar optic neuritis Ethylmalonic aciduria Fatigable weakness of distal limb muscles Fatigable weakness of neck muscles Sensorineural hearing impairment Abnormality of blood glucose concentration Intellectual disability, mild Feeding difficulties in infancy Optic neuritis Camptodactyly Anterior uveitis Conductive hearing impairment Skeletal dysplasia Patent ductus arteriosus Posterior uveitis Pectus excavatum Talipes equinovarus Hearing impairment Downslanted palpebral fissures Wide nasal bridge Iridocyclitis High palate Increased inflammatory response Iritis Flexion contracture Low-set ears Cryptorchidism Cleft palate Cataplexy Nonketotic hypoglycemia Renal cortical cysts Decreased level of D-mannose in urine Ketonuria Ketosis Myoglobinuria Drowsiness Fatigable weakness Glycosuria Difficulty climbing stairs Ventricular fibrillation Hemiplegia Chronic fatigue Back pain Polycystic kidney dysplasia Slurred speech Easy fatigability Poor head control Mutism Ragged-red muscle fibers Hyperammonemia Spastic tetraparesis Excessive daytime somnolence Organic aciduria Limb tremor Glutaric aciduria Superficial thrombophlebitis Impaired mastication Immunologic hypersensitivity Hypoglycemic coma Panuveitis Genital ulcers Personality disorder Epididymitis Progressive spastic quadriplegia Oliguria Exercise-induced myalgia Generalized aminoaciduria Respiratory arrest Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Medulloblastoma Chorioretinitis Erythema nodosum Short philtrum Epiphora Splenomegaly Venous thrombosis Increased intracranial pressure Encephalitis Pleural effusion Acne Hyperreflexia Neoplasm Juvenile rheumatoid arthritis Systemic lupus erythematosus Aortic regurgitation Blurred vision Large joint dislocations Glomerulopathy Sclerotic vertebral endplates Keratoconjunctivitis sicca Pericarditis Hemoptysis Pulmonary embolism Aseptic necrosis Cranial nerve paralysis Vasculitis Subglottic stenosis Abnormal pyramidal sign Memory impairment Migraine Chest pain Vertigo Confusion Paresthesia Papule Cough Stroke Autoimmunity Alopecia Joint stiffness Erythema Irritability Developmental regression Reduced visual acuity Mitral regurgitation Glaucoma Subcutaneous nodule Meningitis Uveitis Pustule Pulmonic stenosis Short metacarpal Finger clinodactyly Alopecia areata Congenital hip dislocation Pointed chin Endocarditis Low anterior hairline Bowing of the long bones Blue sclerae Webbed neck Bifid uvula Bicuspid aortic valve Oral ulcer Full cheeks Pleuritis Broad nasal tip Hirsutism Thick eyebrow Delayed puberty Thrombophlebitis Abnormal blistering of the skin Joint dislocation Abnormality of the genitourinary system Pulmonary infiltrates Tracheal stenosis Gangrene Raynaud phenomenon Myositis Cerebral ischemia Scapular winging Ulnar deviation of the hand Fused cervical vertebrae Arterial thrombosis Neurogenic bladder Recurrent aphthous stomatitis Deep philtrum Stomatitis Pierre-Robin sequence Hip contracture Dislocated radial head Decreased muscle mass Hyperostosis Patent foramen ovale Prominent supraorbital ridges Short metatarsal Nystagmus Dysphagia Exercise intolerance Azotemia Decreased level of thrombomodulin Decreased serum complement factor H Decreased serum complement factor I Abnormality of complement system Decreased serum complement factor B Decreased serum complement C3 Schistocytosis Abnormal lactate dehydrogenase activity Microangiopathic hemolytic anemia Ptosis Anuria Increased blood urea nitrogen Complement deficiency Hemolytic-uremic syndrome Enterocolitis Elevated serum creatinine Reticulocytosis Abnormality of blood and blood-forming tissues Dysphasia Growth delay Hepatosplenomegaly Purpura Hepatic failure Hypocalcemia Sensorimotor neuropathy Abnormality of retinal pigmentation Exotropia Pigmentary retinopathy Peripheral demyelination Brain atrophy Polyneuropathy Retinal dystrophy Peripheral axonal neuropathy Eczema Nyctalopia Peripheral neuropathy Pharyngitis Pyelonephritis Recurrent pharyngitis Severe failure to thrive Leukocytosis Psoriasiform dermatitis Progressive muscle weakness Hyperlipidemia Hypertriglyceridemia Abnormal electroretinogram Thickened skin Pulmonary fibrosis Albinism Melanocytic nevus Melanoma Acanthosis nigricans Abnormality of dental enamel Abnormality of the hair Amblyopia Long eyelashes Abnormal lung morphology Prolonged bleeding time Epistaxis Epidermal acanthosis Nevus Abnormal bleeding Neutropenia Bruising susceptibility Astigmatism Hyperkeratosis Visual impairment Basal cell carcinoma Freckling Hematuria Partial albinism Nephropathy Hemolytic anemia Stage 5 chronic kidney disease Proteinuria Thrombocytopenia Anemia Cognitive impairment Freckles in sun-exposed areas Menometrorrhagia Squamous cell carcinoma of the skin Hypopigmentation of hair Impaired platelet aggregation Abnormal thrombocyte morphology Abnormality of the optic nerve Hematochezia Ocular albinism Abnormality of visual evoked potentials Gingival bleeding Severe vision loss Iris hypopigmentation Tachypnea Loss of consciousness Type I diabetes mellitus Arrhythmia Respiratory tract infection Hyperlordosis Telecanthus Difficulty walking High forehead Acidosis Gait ataxia Areflexia Encephalopathy Abnormality of the cerebral white matter Depressivity Respiratory insufficiency Tremor Dysarthria Motor delay Spasticity Abnormal facial shape Abnormality of the zygomatic bone Abnormal carotid artery morphology Lethargy Congenital cataract Long palm Cardiomegaly Clonus Leukodystrophy Wide anterior fontanel Left ventricular hypertrophy Renal dysplasia Heterotopia Pachygyria Abnormality of the genital system Tetraparesis Waddling gait Limb muscle weakness Aciduria Increased serum lactate Gliosis Generalized muscle weakness Tetraplegia Muscle cramps Renal cyst Pulmonary hypoplasia Lactic acidosis Keratoglobus Median cleft lip and palate Chorioretinal atrophy Posterior staphyloma Craniosynostosis Macrotia Clinodactyly of the 5th finger Inguinal hernia Malar flattening Short nose 3-hydroxydicarboxylic aciduria Abnormality of acid-base homeostasis Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Acute hepatic steatosis Hip dislocation Abnormal chorioretinal morphology Hepatic encephalopathy Abnormal left ventricle morphology Decreased plasma carnitine Reduced consciousness/confusion Cholestatic liver disease Recurrent hypoglycemia Preeclampsia Multiple lipomas Blepharophimosis Arachnodactyly Femoral hernia Keratoconus Arterial stenosis Avascular necrosis of the capital femoral epiphysis Myocarditis Esophagitis Aortic dissection Hiatus hernia Pulmonary artery stenosis Aortic root aneurysm Prematurely aged appearance Telangiectasia of the skin Long face Rocker bottom foot Aortic aneurysm Redundant skin Hyperextensible skin Coxa vara Thin skin Short palpebral fissure Specific learning disability Hip dysplasia Hypopyon



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