Cardiomyopathy, and Abnormality of skin pigmentation

Diseases related with Cardiomyopathy and Abnormality of skin pigmentation

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


Top matches:

Low match HEMOCHROMATOSIS TYPE 3


Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 3 Is also known as tfr2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Cardiomyopathy
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 3

Low match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3


LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3 Is also known as linear skin defects with cardiomyopathy and other congenital anomalies

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3

Low match GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4


Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Cryptorchidism
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4

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Other less relevant matches:

Low match LEOPARD SYNDROME 2; LPRD2


Related symptoms:

  • Short stature
  • Hypertelorism
  • Low-set ears
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 2; LPRD2

Low match HEMOCHROMATOSIS TYPE 4


Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 4 Is also known as autosomal dominant hereditary hemochromatosis|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|ferroportin disease

Related symptoms:

  • Pain
  • Cataract
  • Anemia
  • Fatigue
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 4

Low match HEMOCHROMATOSIS TYPE 2


Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

Low match SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1


Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis

Related symptoms:

  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

Low 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

Low match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Low 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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Abnormality of skin pigmentation

Symptoms // Phenotype % cases
Hyperpigmentation of the skin Common - Between 50% and 80% cases
Cirrhosis Uncommon - Between 30% and 50% cases
Increased serum ferritin Uncommon - Between 30% and 50% cases
Impotence Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Abnormality of skin pigmentation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Osteoporosis Failure to thrive Dilated cardiomyopathy Abnormality of the liver Arthralgia Abdominal pain Fatigue Anemia Arthropathy Short stature Splenomegaly Hepatic steatosis Congestive heart failure Hepatomegaly Increased serum iron Azoospermia Hypertrophic cardiomyopathy Diabetes mellitus Hypogonadotrophic hypogonadism Hepatic fibrosis Amenorrhea Arrhythmia Arthritis Elevated hepatic transaminase Hypogonadism

Rare Symptoms - Less than 30% cases


Pleural effusion Congenital hepatic fibrosis Generalized hyperpigmentation Cryptorchidism Neoplasm Joint dislocation Cerebellar hypoplasia Webbed neck Curly hair Hepatocellular carcinoma Short neck Seizures Global developmental delay Ascites Growth delay Hyperkeratosis Downslanted palpebral fissures Alopecia Epicanthus Elevated transferrin saturation Low-set ears Hypertelorism Abnormality of the sternum Limitation of joint mobility Reticulated skin pigmentation Intellectual disability Ridged fingernail Urethral stricture Scoliosis Premature graying of hair Toenail dysplasia Esophageal stricture Aplastic anemia Pulmonary infiltrates Aseptic necrosis Pulmonary fibrosis Palmoplantar hyperkeratosis Leukopenia Bone marrow hypocellularity Chronic diarrhea Nail dysplasia Nail dystrophy Thrombocytopenia Abnormality of the dentition Ptosis Abnormal cardiac septum morphology Cognitive impairment Pericarditis Carcinoma Hepatic failure Hepatitis Cardiomegaly Telangiectasia Insulin resistance Abnormal joint morphology Osteomalacia Increased reactive oxygen species production Recurrent infections Acute hepatic failure Neoplasm of the liver Restrictive cardiomyopathy Testicular atrophy Alcoholism Abnormal glucose tolerance Microvesicular hepatic steatosis Cholangiocarcinoma Constrictive pericarditis Osteopenia Ataxia Delayed speech and language development Pulmonic stenosis Macrocephaly Ventricular septal defect Atrial septal defect Edema Patent ductus arteriosus Abnormal heart morphology Polyhydramnios Microcephaly Leukemia Abnormality of the cardiovascular system Palmoplantar cutis laxa Ventricular hypertrophy Low posterior hairline Left ventricular hypertrophy Relative macrocephaly Hyperextensible skin Systemic lupus erythematosus Acute lymphoblastic leukemia Graves disease Chylothorax Diarrhea Hypertension Abnormality of the hypothalamus-pituitary axis Hypothyroidism Dilation of lateral ventricles Cavum septum pellucidum Lacrimal duct atresia Histiocytoid cardiomyopathy Hyperpigmented streaks Vomiting Hypoglycemia Pericardial effusion Coma Hypotension Dehydration Shock Precocious puberty Hyponatremia Sclerocornea Ventricular fibrillation Adrenal insufficiency Muscular hypotonia Neutropenia Lymphopenia Purpura Generalized hypotonia Nystagmus Strabismus Myopia Ventricular tachycardia Intrauterine growth retardation Microphthalmia Agenesis of corpus callosum Muscular hypotonia of the trunk Tachycardia Cardiac arrest Severe muscular hypotonia Apathy Hyperkalemia Chondrocalcinosis Abnormality of the anterior pituitary Muscle weakness Lethargy Delayed puberty Infertility Portal hypertension Abnormality of iron homeostasis Abnormality of endocrine pancreas physiology Glucose intolerance Peripheral neuropathy Retinopathy Vertigo Cholestasis Gynecomastia Exocrine pancreatic insufficiency Joint swelling Osteoarthritis Congenital hypothyroidism Mandibular prognathia Primary adrenal insufficiency Renal salt wasting Increased circulating renin level Hypoglycemic coma Hypernatriuria Depressed nasal bridge Dolichocephaly Scarring Dry skin Thick lower lip vermilion Cafe-au-lait spot Cubitus valgus Multiple lentigines Cataract Respiratory distress Aceruloplasminemia



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