Cardiomyopathy, and Alopecia

Diseases related with Cardiomyopathy and Alopecia

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


Top matches:

Low match SKIN FRAGILITY-WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME


Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.

SKIN FRAGILITY-WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME Is also known as skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome

Related symptoms:

  • Failure to thrive
  • Cardiomyopathy
  • Alopecia
  • Dilated cardiomyopathy
  • Nail dystrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SKIN FRAGILITY-WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME

Low match HYPOTRICHOSIS 8; HYPT8


Hypotrichosis simplex refers to a group of hereditary isolated alopecias characterized by diffuse and progressive hair loss, usually beginning in early childhood (Pasternack et al., 2008). Localized autosomal recessive hypotrichosis (LAH) is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas (summary by Schaffer et al., 2006).Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends (summary by Petukhova et al., 2009). Several families have been reported in which some affected individuals exhibit features of hypotrichosis and others have woolly scalp hair (Khan et al., 2011).Woolly hair is also a feature of several syndromes, such as Naxos disease (OMIM ) and cardiofaciocutaneous syndrome (OMIM ) (Petukhova et al., 2009), or the palmoplantar keratoderma and cardiomyopathy syndrome (OMIM ) (Carvajal-Huerta, 1998). Genetic Heterogeneity of Hypotrichosis and Woolly HairFor a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (OMIM ).For a discussion of genetic heterogeneity of localized hypotrichosis, see LAH1 (HYPT6 ).Another form of autosomal recessive woolly hair with or without hypotrichosis (ARWH2 ) is caused by mutation in the LIPH gene (OMIM ) and is allelic to autosomal recessive localized hypotrichosis (LAH2). ARWH3 (OMIM ) is caused by mutation in the KRT25 gene (OMIM ) on chromosome 17q21.An autosomal dominant form of woolly hair with hypotrichosis (HYPT13 ) is caused by mutation in the KRT71 gene (OMIM ) on chromosome 12q13. Another autosomal dominant form of woolly hair (ADWH ) with normal hair density is caused by mutation in the KRT74 gene (OMIM ) on chromosome 12q13, and is allelic to an autosomal dominant form of hypotrichosis simplex of the scalp (HYPT3 ) as well as an ectodermal dysplasia of the hair/nail type (ECTD7 ).

HYPOTRICHOSIS 8; HYPT8 Is also known as lah3|hypotrichosis, localized, autosomal recessive 3

Related symptoms:

  • Cardiomyopathy
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema


SOURCES: OMIM MESH MENDELIAN

More info about HYPOTRICHOSIS 8; HYPT8

Low match LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA


Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters.

LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA Is also known as lethal acantholytic epidermolysis bullosa|laeb

Related symptoms:

  • Cardiomyopathy
  • Syndactyly
  • Clinodactyly
  • Alopecia
  • Respiratory failure


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA

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Other less relevant matches:

Low match NAXOS DISEASE


Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.

NAXOS DISEASE Is also known as keratosis palmoplantaris with arrhythmogenic cardiomyopathy|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|kwwh type i|keratoderma with woolly hair type i|mal de naxos|palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyo

Related symptoms:

  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure
  • Dilatation
  • Arrhythmia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NAXOS DISEASE

Low 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

Low match DORFMAN-CHANARIN DISEASE


DORFMAN-CHANARIN DISEASE Is also known as neutral lipid storage disease with ichthyosis|nlsdi

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about DORFMAN-CHANARIN DISEASE

Low match LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME


LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.

LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME Is also known as lcps

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Congestive heart failure
  • Sparse hair
  • Ventricular hypertrophy


SOURCES: ORPHANET MENDELIAN

More info about LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME

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 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

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 Alopecia

Symptoms // Phenotype % cases
Dilated cardiomyopathy Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Nail dystrophy Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Fragile skin Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Anemia Syndactyly Sparse scalp hair Abnormal blistering of the skin Hypotrichosis Respiratory failure Cardiomegaly Squamous cell carcinoma of the skin Sparse and thin eyebrow Nail dysplasia Fatigue Acantholysis Woolly hair Milia Palmoplantar keratoderma Mitten deformity

Rare Symptoms - Less than 30% cases


Carious teeth Narrow mouth Arrhythmia Onycholysis Exertional dyspnea Hypoplasia of dental enamel Sepsis Vertigo Dyspnea Splenomegaly Atrophic scars Ascites Carcinoma Osteopenia Neoplasm Increased serum ferritin Hepatocellular carcinoma Arthropathy Impotence Hyperpigmentation of the skin Hepatic steatosis Ankyloglossia Cirrhosis Arthralgia Diabetes mellitus Hypogonadism Alopecia universalis Hepatomegaly Loss of eyelashes Esophageal stricture Skin erosion Failure to thrive Aplasia/Hypoplasia of the eyebrow Ectodermal dysplasia Sparse eyelashes Curly hair Hyperkeratosis Erythema Scarring Sparse hair Ventricular hypertrophy Pruritus Hyperhidrosis Absent eyebrow Aplasia cutis congenita Brittle hair Skin vesicle Retinopathy Peripheral neuropathy Visual loss Constipation Abnormality of the cardiovascular system Toe syndactyly Progressive visual loss Delayed puberty Flexion contracture Joint contracture of the hand Conjunctivitis Neoplasm of the skin Dermal atrophy Hypoalbuminemia Dysphagia Diffuse palmoplantar keratoderma Cataract Palmoplantar hyperkeratosis Growth delay Abnormality of the hypothalamus-pituitary axis Chondrocalcinosis Palmoplantar keratosis with erythema and scale Exocrine pancreatic insufficiency Squamous cell carcinoma Sparse eyebrow Joint dislocation Gynecomastia Coarse hair Cholestasis Limitation of joint mobility Papule Ectropion Alopecia totalis Malnutrition Neoplasm of the liver Hypogonadotrophic hypogonadism Azoospermia Pleural effusion Abnormal joint morphology Osteomalacia Pericarditis Increased reactive oxygen species production Acute hepatic failure Restrictive cardiomyopathy Hepatic fibrosis Testicular atrophy Alcoholism Abnormal glucose tolerance Microvesicular hepatic steatosis Increased serum iron Cholangiocarcinoma Constrictive pericarditis Aceruloplasminemia Insulin resistance Telangiectasia Abnormality of the intrahepatic bile duct Esophageal stenosis Atypical scarring of skin Corneal erosion Corneal scarring Scarring alopecia of scalp Absent toenail Abnormality of the anus Absent fingernail Refractory anemia Spontaneous esophageal perforation Hepatitis Ataxia Pain Recurrent infections Abdominal pain Elevated hepatic transaminase Arthritis Abnormality of the liver Hepatic failure Amenorrhea Blepharitis Coronary artery stenosis Aortic atherosclerosis Clubbing of fingers Acanthosis nigricans Ventricular tachycardia Ventricular arrhythmia Akinesia Right bundle branch block Absent hair Alopecia of scalp Ventricular extrasystoles Reduced ejection fraction Long eyelashes Woolly scalp hair Hypergranulosis T-wave inversion Right ventricular cardiomyopathy Abnormality of hair texture Abnormal T-wave Prolonged QRS complex Right ventricular dilatation Cardiac arrest Palpitations Abnormal right ventricle morphology Dilatation Natal tooth Oral mucosal blisters Phimosis Esophageal ulceration Tapered distal phalanges of finger Widely spaced toes Anonychia Sandal gap Finger clinodactyly Epidermal acanthosis Abnormal heart morphology Abnormality of the nail Cleft upper lip Tachycardia Sudden cardiac death Syncope Clinodactyly Cyanosis Paroxysmal ventricular tachycardia Ventricular flutter Pulmonary carcinoid tumor Reduced subcutaneous adipose tissue Aortic valve stenosis Atherosclerosis Hypercholesterolemia Intracranial hemorrhage Emphysema Coronary artery atherosclerosis Premature graying of hair Basal cell carcinoma Lipoatrophy Hypertriglyceridemia Scleroderma Prematurely aged appearance Aortic root aneurysm Absent eyelashes Premature skin wrinkling Abnormality of the pulmonary artery Mitral valve calcification Papillary renal cell carcinoma Mitral regurgitation Hypertension Abnormal morphology of right ventricular trabeculae Hoarse voice Comedo Feeding difficulties Respiratory insufficiency Nail pits Trichorrhexis nodosa Dry hair Dehydration Ridged nail Recurrent skin infections Junctional split Pyloric stenosis Sparse axillary hair Fair hair Sparse body hair Laryngeal stenosis Paronychia Laryngeal stridor Congenital localized absence of skin Elevated transferrin saturation



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