Anemia, and Dilated cardiomyopathy

Diseases related with Anemia and Dilated cardiomyopathy

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


Top matches:

Medium match ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY


Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).

ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY Is also known as ibd deficiency|acad8 deficiency|acyl-coa dehydrogenase family, member 8, deficiency of|isobutyric aciduria

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY

Medium match DILATED CARDIOMYOPATHY WITH ATAXIA


Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Medium match MCLEOD SYNDROME; MCLDS


Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

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Other less relevant matches:

Medium match JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE


Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.

JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE Is also known as epidermolysis bullosa letalis|junctional epidermolysis bullosa, herlitz type|junctional epidermolysis bullosa, herlitz-pearson type|jeb-herlitz type|jeb-h|epidermolysis bullosa junctionalis, herlitz type|epidermolysis bullosa, junctional, herlitz-pearson

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Respiratory insufficiency
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE

Medium match RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA


Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.

RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA Is also known as inverse recessive dystrophic epidermolysis bullosa|rdeb-i|dystrophic epidermolysis bullosa inversa|inverse rdeb

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA

Medium match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2


Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, pulmonary and liver fibrosis, and premature graying of the hair (summary by Armanios et al., 2005).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2

Medium 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

Medium match SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA


Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type|severe generalized rdeb|dystrophic epidermolysis bullosa, autosomal recessive|rdeb generalisata gravis|epidermolysis bullosa dystrophica, hallopeau-siemens type|rdeb-sev gen|autosomal recessive dystrophic epidermolysis bullosa

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

Medium match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

Medium match EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY


Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY Is also known as epidermolysis bullosa simplex and limb-girdle muscular dystrophy|md-ebs|ebs-md|mdebs|limb-girdle muscular dystrophy with epidermolysis bullosa simplex

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis
  • Anemia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY

Top 5 symptoms//phenotypes associated to Anemia and Dilated cardiomyopathy

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Nail dystrophy Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Dilated cardiomyopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Milia Abnormal blistering of the skin Nail dysplasia Esophageal stricture Osteoporosis Alopecia Failure to thrive Narrow mouth Dysphagia Carious teeth Hepatomegaly Hypoplasia of dental enamel Myopathy Atrophic scars Ankyloglossia Squamous cell carcinoma of the skin Splenomegaly Elevated serum creatine phosphokinase Congestive heart failure Seizures Cardiomegaly Global developmental delay Short stature

Rare Symptoms - Less than 30% cases


Constipation Rhabdomyolysis Personality disorder Tics Acanthocytosis Motor axonal neuropathy Dermal atrophy Obsessive-compulsive behavior Scarring Skin vesicle Atrial fibrillation Generalized-onset seizure Scarring alopecia of scalp Chorea Dyskinesia Fatigue Syndactyly Dyspnea Carcinoma Abnormality of the anus Keratitis Cataract Corneal erosion Mitten deformity Anxiety Skin erosion Hepatic fibrosis Osteopenia Palmoplantar hyperkeratosis Recurrent skin infections Elevated hepatic transaminase Left ventricular hypertrophy Hypotrichosis Neoplasm Flexion contracture Muscular dystrophy Urethral stricture Hepatosplenomegaly Hepatic steatosis Microvesicular hepatic steatosis Cognitive impairment Peripheral neuropathy Dysarthria Dehydration Feeding difficulties Ataxia Behavioral abnormality Dystonia Depressivity Areflexia Pneumonia Malnutrition Fragile skin Squamous cell carcinoma Blepharitis Atypical scarring of skin Corneal scarring Muscular hypotonia Absent toenail Absent fingernail Pain Refractory anemia Loss of eyelashes Esophageal stenosis Spontaneous esophageal perforation Hypoalbuminemia Generalized hypotonia Recurrent infections Hypogonadism Diabetes mellitus Abdominal pain Arthralgia Arthritis Abnormality of the liver Ectropion Delayed puberty Delayed speech and language development Abnormal facial expression Excessive salivation Hyporeflexia of lower limbs Increased muscle fatiguability Generalized limb muscle atrophy Impaired temperature sensation Abnormal social behavior Abnormal lactate dehydrogenase activity Caudate atrophy Abnormal corpus striatum morphology Recurrent singultus Blood group antigen abnormality Hyporeflexia of upper limbs Neoplasm of the skin Abnormality of the astrocytes Asthma Visual loss Pulmonic stenosis Vomiting Atrial septal defect Pruritus Toe syndactyly Hepatic failure Progressive visual loss Joint contracture of the hand Conjunctivitis Cirrhosis Insulin resistance Ascites Dysphasia Ophthalmoplegia Tachycardia Ventricular hypertrophy Progressive muscle weakness Abnormality of dental enamel Ventricular tachycardia Mutism Abnormality of mitochondrial metabolism Ophthalmoparesis Neonatal respiratory distress Aphasia Aplasia/Hypoplasia of the skin Facial palsy Fatigable weakness Lipoma Severe postnatal growth retardation Nemaline bodies Echolalia Hypoplastic fingernail Increased connective tissue Oculomotor nerve palsy Hyperconvex fingernails Muscle flaccidity Decreased miniature endplate potentials Papule Ptosis Amenorrhea Pericarditis Hepatitis Telangiectasia Hyperpigmentation of the skin Supraventricular tachycardia Hypogonadotrophic hypogonadism Azoospermia Pleural effusion Impotence Abnormal joint morphology Arthropathy Osteomalacia Hepatocellular carcinoma Elevated transferrin saturation Increased serum ferritin Increased reactive oxygen species production Acute hepatic failure Neoplasm of the liver Restrictive cardiomyopathy Testicular atrophy Alcoholism Abnormal glucose tolerance Increased serum iron Cholangiocarcinoma Constrictive pericarditis Aceruloplasminemia Orofacial dyskinesia Impaired vibration sensation in the lower limbs Left bundle branch block Hypospadias Onycholysis Aciduria Sudden cardiac death Postnatal growth retardation Laryngeal stenosis Paronychia Laryngeal stridor Congenital localized absence of skin Hypoglycemia Junctional split Hearing impairment Optic atrophy Decreased testicular size Intrauterine growth retardation Renal insufficiency Motor delay Nephropathy Cryptorchidism Microglossia Stenosis of the external auditory canal Abnormal vagina morphology Tongue atrophy Oral mucosal blisters Intellectual disability Aplasia cutis congenita Mitral regurgitation Microcephaly 3-Methylglutaric aciduria Ichthyosis Aspiration EMG abnormality Skeletal muscle atrophy Abnormality of the musculature Aspiration pneumonia Normochromic microcytic anemia Penile hypospadias Abetalipoproteinemia Phonic tics Respiratory insufficiency Noncompaction cardiomyopathy Pyloric stenosis Testicular dysgenesis Respiratory failure Glutaric aciduria Nonprogressive cerebellar ataxia 3-Methylglutaconic aciduria Perineal hypospadias Sepsis Microcytic anemia Hypokinesia Prolonged QT interval Hoarse voice Abnormality of the genital system Neonatal hyperbilirubinemia Diarrhea Ventricular extrasystoles Cardiac arrest Lower limb muscle weakness Confusion Paresthesia Hemolytic anemia Sensory neuropathy Parkinsonism Memory impairment Neuronal loss in central nervous system Involuntary movements Hallucinations Sensorimotor neuropathy Sleep apnea Abnormality of the cerebral white matter Ventricular arrhythmia Personality changes Emotional lability Ventricular fibrillation Sensory axonal neuropathy Bowel incontinence Myoclonus Impaired pain sensation Restlessness Insomnia Bipolar affective disorder Abnormality of movement Mental deterioration Abnormality of the dentition Aseptic necrosis Thrombocytopenia Cerebellar hypoplasia Hyperkeratosis Abnormality of skin pigmentation Chronic diarrhea Pyelonephritis Bone marrow hypocellularity Leukopenia Peripheral pulmonary artery stenosis Pulmonary fibrosis Premature graying of hair Pulmonary infiltrates Mild global developmental delay Aplastic anemia Toenail dysplasia Decreased plasma carnitine Ridged fingernail Reticulated skin pigmentation Gait disturbance Hypertonia Cerebral atrophy Babinski sign Dementia Hyperhidrosis Rigidity Punctate keratitis



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