Cardiomyopathy, and Colitis

Diseases related with Cardiomyopathy and Colitis

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


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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 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 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 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

Low match INFLAMMATORY BOWEL DISEASE 13; IBD13


Related symptoms:

  • Inflammation of the large intestine


SOURCES: OMIM MESH MENDELIAN

More info about INFLAMMATORY BOWEL DISEASE 13; IBD13

Low match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Colitis

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Inflammation of the large intestine Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dilated cardiomyopathy Anorexia Intellectual disability Global developmental delay Macrocephaly Dyspnea Hypertrophic cardiomyopathy Fatigue Strabismus Hypertension Fever Abdominal pain Headache Gastrointestinal inflammation Renal insufficiency Generalized hypotonia Muscular hypotonia Scoliosis Pain Behavioral abnormality Cataract Feeding difficulties Vomiting Coma Hypoglycemia Photophobia Weight loss Diarrhea Myalgia Hepatomegaly Myopathy Elevated hepatic transaminase Elevated serum creatine phosphokinase Abnormality of the liver

Rare Symptoms - Less than 30% cases


Cardiorespiratory arrest Proximal muscle weakness Hiatus hernia Renal cyst Lymphadenopathy Nausea and vomiting Cardiac arrest Progressive proximal muscle weakness Visual loss Jaundice Muscle weakness Pyloric stenosis Pulmonary hypoplasia Hip dislocation Esophagitis Gait disturbance Craniosynostosis Gastroesophageal reflux Respiratory failure Clinodactyly of the 5th finger Inguinal hernia Dilatation Respiratory distress Hypertelorism Ataxia Abnormal facial shape Reye syndrome-like episodes Depressed nasal bridge Elevated plasma acylcarnitine levels Hypoketotic hypoglycemia Myocardial infarction Recurrent hypoglycemia Rhabdomyolysis Decreased liver function Arthralgia Telecanthus Abnormality of the pinna Metabolic acidosis Hepatic steatosis Respiratory tract infection Joint hyperflexibility Abnormal myocardium morphology Nausea Retinopathy Growth delay Ptosis Restrictive ventilatory defect Neoplasm Recurrent infections Hemiparesis Immunodeficiency Astigmatism Blindness Acute kidney injury Pancreatitis Hypopigmentation of the skin Nystagmus Vertigo Glaucoma Proteinuria Thrombocytopenia Long eyelashes Abnormality of metabolism/homeostasis Edema Anemia Gastrointestinal hemorrhage Malabsorption Hearing impairment Erythema Short stature Microcephaly Uveitis Hypopyon Joint stiffness Irritability Scarring Autoimmunity Abnormal pyramidal sign Stroke Decreased level of D-mannose in urine Epididymitis Genital ulcers Panuveitis Micrognathia Cleft palate Developmental regression Hepatic periportal necrosis Anteverted nares Talipes equinovarus Ventricular septal defect Fatigable weakness of neck muscles Abnormality of the skeletal system Abnormality of branched chain family amino acid metabolism Optic atrophy Intrauterine growth retardation Wide nasal bridge Defective dehydrogenation of isovaleryl CoA and butyryl CoA Delayed speech and language development Arthritis Electron transfer flavoprotein-ubiquinone oxidoreductase defect High palate Abnormality of blood glucose concentration Hyperreflexia Splenomegaly Low-set ears Cryptorchidism Alopecia Orchitis Reduced visual acuity Sensorineural hearing impairment Superficial thrombophlebitis Confusion Cough Hemoptysis Pleural effusion Rheumatoid arthritis Acne Epiphora Blurred vision Oral ulcer Glomerulopathy Keratoconjunctivitis sicca Pericarditis Hydrocephalus Pulmonary embolism Pleuritis Aseptic necrosis Endocarditis Alopecia areata Stomatitis Recurrent aphthous stomatitis Arterial thrombosis Cerebral ischemia Myositis Raynaud phenomenon Gangrene Pulmonary infiltrates Encephalitis Thrombophlebitis Retrobulbar optic neuritis Memory impairment Papule Iritis Paresthesia Increased inflammatory response Pustule Chest pain Iridocyclitis Posterior uveitis Anterior uveitis Migraine Abnormal blistering of the skin Erythema nodosum Mitral regurgitation Subcutaneous nodule Meningitis Vasculitis Aortic regurgitation Optic neuritis Cranial nerve paralysis Chorioretinitis Venous thrombosis Increased intracranial pressure Immunologic hypersensitivity Short neck Pallor Atrial septal defect Proximal placement of thumb Hypoplastic nipples Dislocated radial head Weak cry Abnormality of digit Limited elbow extension Opisthotonus Ectopic kidney 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Clubbing Self-injurious behavior Ectrodactyly Short metatarsal Deep philtrum Incoordination Abnormality of the urinary system Hypoplasia of the radius Relative macrocephaly Widely spaced teeth Torticollis Spontaneous abortion Elbow flexion contracture Increased body weight Low anterior hairline Oligodactyly Poor appetite Recurrent urinary tract infections Absent hand Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Hypertropia Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Gastroparesis Aspiration pneumonia Supernumerary ribs Phocomelia Hand oligodactyly Perimembranous ventricular septal defect Short sternum Peters anomaly Panhypopituitarism Volvulus Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Aspiration Choanal atresia Intellectual disability, severe Brachycephaly Hypersarcosinemia Postnatal growth retardation Camptodactyly Aggressive behavior Conductive hearing impairment Thin upper lip vermilion Retrognathia Mandibular prognathia Proptosis Autism Narrow mouth Hyperactivity Hyperhidrosis Prominent nasal bridge Prominent forehead Severe short stature Pneumonia Delayed skeletal maturation Abnormal heart morphology Clinodactyly Hypospadias Hernia Syndactyly Long philtrum Hypertonia Abnormality of the dentition Autistic behavior Small for gestational age Hypertrichosis Delayed eruption of teeth Low posterior hairline Renal hypoplasia Blue sclerae High myopia Congenital diaphragmatic hernia Microdontia Otitis media Webbed neck Vesicoureteral reflux Sepsis Triangular face Microcornea Sleep disturbance Synophrys Tapered finger Single transverse palmar crease Highly arched eyebrow Small hand High, narrow palate Downturned corners of mouth Hirsutism Thick eyebrow Thin vermilion border Cleft upper lip Micromelia Toe syndactyly Pulmonic stenosis Fatigable weakness of distal limb muscles Exercise intolerance Ethylmalonic aciduria Severe failure to thrive Peripheral demyelination Brain atrophy Polyneuropathy Retinal dystrophy Hepatic failure Peripheral axonal neuropathy Nyctalopia Peripheral neuropathy Pharyngitis Pyelonephritis Recurrent pharyngitis Leukocytosis Exotropia Psoriasiform dermatitis Progressive muscle weakness Eczema Hepatosplenomegaly Freckles in sun-exposed areas Menometrorrhagia Partial albinism Squamous cell carcinoma of the skin Impaired platelet aggregation Abnormal thrombocyte morphology Ulcerative colitis Pigmentary retinopathy Abnormality of retinal pigmentation Hematochezia Abnormal chorioretinal morphology Long face Arachnodactyly Blepharophimosis Macrotia Malar flattening Short nose 3-hydroxydicarboxylic aciduria Abnormality of acid-base homeostasis Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Posterior staphyloma Acute hepatic steatosis Hepatic encephalopathy Sensorimotor neuropathy Abnormal left ventricle morphology Decreased plasma carnitine Reduced consciousness/confusion Cholestatic liver disease Preeclampsia Multiple lipomas Chorioretinal atrophy Loss of consciousness Abnormal electroretinogram Tachypnea Hypocalcemia Abnormality of the optic nerve Ocular albinism Specific learning disability Hemolytic-uremic syndrome Decreased serum complement factor I Abnormality of complement system Decreased serum complement factor B Decreased serum complement C3 Schistocytosis Abnormal lactate dehydrogenase activity Azotemia Microangiopathic hemolytic anemia Anuria Increased blood urea nitrogen Complement deficiency Enterocolitis Decreased level of thrombomodulin Elevated serum creatinine Reticulocytosis Abnormality of blood and blood-forming tissues Dysphasia Hyperlipidemia Purpura Hypertriglyceridemia Hematuria Nephropathy Hemolytic anemia Stage 5 chronic kidney disease Decreased serum complement factor H Visual impairment Abnormality of visual evoked potentials Melanoma Gingival bleeding Severe vision loss Iris hypopigmentation Hypopigmentation of hair Freckling Prolonged bleeding time Basal cell carcinoma Pulmonary fibrosis Albinism Melanocytic nevus Acanthosis nigricans Hyperkeratosis Abnormality of dental enamel Abnormality of the hair Amblyopia Thickened skin Abnormal lung morphology Epistaxis Epidermal acanthosis Nevus Abnormal bleeding Neutropenia Bruising susceptibility Hip dysplasia Short palpebral fissure Reduced protein C activity Polycystic kidney dysplasia Ketonuria Ketosis Myoglobinuria Drowsiness Fatigable weakness Glycosuria Difficulty climbing stairs Ventricular fibrillation Stridor Hemiplegia Back pain Slurred speech Chronic fatigue Easy fatigability Poor head control Mutism Ragged-red muscle fibers Hyperammonemia Spastic tetraparesis Scapular winging Cognitive impairment Type I diabetes mellitus Clonus Leukodystrophy Excessive daytime somnolence Organic aciduria Left ventricular hypertrophy Personality disorder Ketotic hypoglycemia Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Narcolepsy Cataplexy Renal cortical cysts Limb tremor Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Progressive spastic quadriplegia Exercise-induced myalgia Glutaric aciduria Oliguria 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 Wide anterior fontanel Renal dysplasia Thin skin Myocarditis Dysarthria Motor delay Spasticity Abnormality of the zygomatic bone Abnormal carotid artery morphology Keratoglobus Long palm Median cleft lip and palate Femoral hernia Arterial stenosis Avascular necrosis of the capital femoral epiphysis Aortic dissection Dysphagia Pulmonary artery stenosis Aortic root aneurysm Prematurely aged appearance Keratoconus Telangiectasia of the skin Rocker bottom foot Aortic aneurysm Redundant skin Hyperextensible skin Coxa vara Coxa valga Tremor Respiratory insufficiency Heterotopia Lactic acidosis Pachygyria Abnormality of the genital system Tetraparesis Cardiomegaly Waddling gait Aciduria Increased serum lactate Gliosis Generalized muscle weakness Tetraplegia Muscle cramps Limb muscle weakness Depressivity Congenital cataract Abnormality of the cerebral white matter Lethargy Hyperlordosis Difficulty walking High forehead Acidosis Gait ataxia Areflexia Arrhythmia Encephalopathy Dysplastic tricuspid valve



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Tremor and Elevated serum creatine phosphokinase, related diseases and genetic alterations Peripheral neuropathy and Nephrolithiasis, related diseases and genetic alterations Micrognathia and Hip dysplasia, related diseases and genetic alterations Micrognathia and Retinal degeneration, related diseases and genetic alterations Muscular hypotonia and Hypertonia, related diseases and genetic alterations Myopia and Syndactyly, related diseases and genetic alterations

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