Cardiomyopathy, and Hyperhidrosis
Diseases related with Cardiomyopathy and Hyperhidrosis
In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Hyperhidrosis that can help you solving undiagnosed cases.
Top matches:
Striate palmoplantar keratoderma belongs to a group of skin diseases in which there is thickening of the skin on the palms and soles. The striate form is characterized by longitudinal hyperkeratotic lesions extending the length of each finger to the palm, and hyperkeratotic lesions are restricted to regions of the body where pressure and abrasion are greatest (summary by Hunt et al., 2001). Patients with diffuse or focal forms of keratoderma associated with mutation in the DSG1 gene have also been reported (Keren et al., 2005; Milingou et al., 2006). Genetic Heterogeneity of Keratosis Palmoplantaris StriataType II PPKS (PPKS2 ) is caused by mutation in the DSP gene (OMIM ) on chromosome 6.Type III PPKS (PPKS3 ) is caused by mutation in the keratin-1 gene (KRT1 ) on chromosome 12q.For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (OMIM ).Nitoiu et al. (2014) reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSG1 and DSP genes.
PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE; PPKS1 Is also known as kpps1|keratoderma, palmoplantar, striate form i|sppk1|striate palmoplantar keratoderma i|keratosis palmoplantaris striata i
Related symptoms:
- Neoplasm
- Cardiomyopathy
- Hyperhidrosis
- Hyperkeratosis
- Nail dystrophy
SOURCES:
OMIM
MESH
MENDELIAN
More info about PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE; PPKS1
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
The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.
CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM Is also known as cpt2, severe infantile form|cptii, severe infantile form|carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia|carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|cpt2, hepatocardiomuscular form|cptii, hepatoc
Related symptoms:
- Seizures
- Hepatomegaly
- Fever
- Respiratory distress
- Cardiomyopathy
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM
Too many results?
We can help you with your rare disease diagnosis.
Learn more
Other less relevant matches:
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
Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008).
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Scoliosis
- Growth delay
SOURCES:
OMIM
MENDELIAN
More info about CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3
Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.
FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA Is also known as lactic acidosis, fatal infantile, formerly
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA
Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.
TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease
Related symptoms:
- Seizures
- Muscle weakness
- Anemia
- Hypertension
- Fever
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about TAKAYASU ARTERITIS
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
Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1
Related symptoms:
- Intellectual disability
- Cognitive impairment
- Hypertension
- Peripheral neuropathy
- Hepatomegaly
SOURCES:
OMIM
MENDELIAN
More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1
Top 5 symptoms//phenotypes associated to Cardiomyopathy and Hyperhidrosis
Symptoms // Phenotype |
% cases |
Seizures |
Common - Between 50% and 80% cases
|
Muscle weakness |
Uncommon - Between 30% and 50% cases
|
Hyperkeratosis |
Uncommon - Between 30% and 50% cases
|
Global developmental delay |
Uncommon - Between 30% and 50% cases
|
Dilated cardiomyopathy |
Uncommon - Between 30% and 50% cases
|
Accelerate your rare disease diagnosis with us
Learn more
Other less frequent symptoms
Patients with Cardiomyopathy and Hyperhidrosis. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Growth delay
Arrhythmia
Elevated hepatic transaminase
Cognitive impairment
Fatigue
Muscular hypotonia
Congestive heart failure
Intellectual disability
Hypertrophic cardiomyopathy
Generalized hypotonia
Hepatomegaly
Fever
Curly hair
Woolly hair
Epidermal acanthosis
Palmoplantar keratoderma
Myopathy
Dilatation
Rare Symptoms - Less than 30% cases
Lethargy
Cardiac arrest
Cerebral atrophy
Hypoglycemia
Acidosis
Nausea and vomiting
Mental deterioration
Hepatic steatosis
Metabolic acidosis
Aciduria
Cardiomegaly
Hepatosplenomegaly
Behavioral abnormality
Abnormal heart morphology
Respiratory failure
Dyspnea
Vertigo
Ventricular extrasystoles
Ventricular arrhythmia
Elevated serum creatine phosphokinase
Splenomegaly
Encephalopathy
Brittle hair
Nail dystrophy
Onycholysis
Hypergranulosis
Alopecia
Erythema
Hearing impairment
Ectodermal dysplasia
Sparse scalp hair
Vomiting
Failure to thrive
Ataxia
Sparse and thin eyebrow
Anorexia
Acanthosis nigricans
Peripheral neuropathy
Hypertension
Anemia
Dystonia
Migraine
Obsessive-compulsive behavior
Memory impairment
Neuronal loss in central nervous system
Generalized-onset seizure
Atrial fibrillation
Involuntary movements
Left ventricular hypertrophy
Rhabdomyolysis
Hallucinations
Impaired vibration sensation in the lower limbs
Sleep apnea
Emotional lability
Ventricular fibrillation
Sensory axonal neuropathy
Sensorimotor neuropathy
Personality changes
Bowel incontinence
Neoplasm
Babinski sign
Chorea
Gait disturbance
Reduced consciousness/confusion
Abnormal aortic valve morphology
Inflammatory abnormality of the eye
Abnormal pattern of respiration
Arterial stenosis
Ascending tubular aorta aneurysm
Abnormal endocardium morphology
Amaurosis fugax
Gastrointestinal infarctions
Arteritis
Hypertensive crisis
Increased inflammatory response
Short stature
Dysarthria
Dysphagia
Parkinsonism
Abnormality of movement
Sensory neuropathy
Dyskinesia
Hemolytic anemia
Paresthesia
Confusion
Lower limb muscle weakness
Abnormality of the cerebral white matter
Hypertonia
Anxiety
Rigidity
Dementia
Restlessness
Areflexia
Depressivity
Impaired pain sensation
Blood group antigen abnormality
Insomnia
Abnormality of lipid metabolism
Nephrolithiasis
Insulin resistance
Accelerated skeletal maturation
Hyperlipidemia
Polycystic ovaries
Hyperinsulinemia
Lipodystrophy
Clitoral hypertrophy
Large hands
Skeletal muscle hypertrophy
High pitched voice
Polyphagia
Lipoatrophy
Insulin-resistant diabetes mellitus
Oligomenorrhea
Abnormality of the genital system
Congenital generalized lipodystrophy
Labial hypertrophy
Cystic angiomatosis of bone
Reduced intrathoracic adipose tissue
Insulin-resistant diabetes mellitus at puberty
Prominent umbilicus
Decreased serum leptin
Decreased fertility in females
Long foot
Generalized lipodystrophy
Acute pancreatitis
Glioma
Bone cyst
Abnormality of the ovary
Angina pectoris
Tall stature
Hypertrichosis
Bipolar affective disorder
Hyporeflexia of lower limbs
Abnormal lactate dehydrogenase activity
Abnormal social behavior
Impaired temperature sensation
Generalized limb muscle atrophy
Personality disorder
Increased muscle fatiguability
Excessive salivation
Abnormal corpus striatum morphology
Orofacial dyskinesia
Tics
Acanthocytosis
Supraventricular tachycardia
Motor axonal neuropathy
Left bundle branch block
Caudate atrophy
Recurrent singultus
Hypertriglyceridemia
Macrotia
Triangular face
Nephropathy
Hirsutism
Cirrhosis
Autoimmunity
Umbilical hernia
Mandibular prognathia
Gangrene
Diabetes mellitus
Hernia
Intellectual disability, mild
Abnormality of the astrocytes
Hyporeflexia of upper limbs
Abnormal facial expression
Cerebral ischemia
Diarrhea
Hemoptysis
Exertional dyspnea
Hypoglycemic encephalopathy
Cleft upper lip
Tachycardia
Sepsis
Sudden cardiac death
Syncope
Abnormal blistering of the skin
Cyanosis
Palpitations
Long eyelashes
Ventricular tachycardia
Akinesia
Right bundle branch block
Fragile skin
Dicarboxylic aciduria
Alopecia of scalp
Clubbing of fingers
Reduced ejection fraction
T-wave inversion
Right ventricular cardiomyopathy
Abnormality of hair texture
Acantholysis
Abnormal T-wave
Prolonged QRS complex
Right ventricular dilatation
Paroxysmal ventricular tachycardia
Abnormal right ventricle morphology
Ventricular flutter
Macrovesicular hepatic steatosis
Respiratory arrest
Scoliosis
Fair hair
Plantar hyperkeratosis
Streaks of hyperkeratosis along each finger onto the palm
Sparse hair
Papule
Pruritus
Hypotrichosis
Sparse eyelashes
Palmoplantar hyperkeratosis
Coarse hair
Sparse eyebrow
Absent eyebrow
Aplasia/Hypoplasia of the eyebrow
Sparse body hair
Sparse axillary hair
Hypoketotic hypoglycemia
Ridged nail
Dry hair
Trichorrhexis nodosa
Nail pits
Comedo
Woolly scalp hair
Absent hair
Respiratory distress
Hepatic failure
Coma
Ventricular hypertrophy
Hyperammonemia
Loss of consciousness
Abnormal morphology of right ventricular trabeculae
Nystagmus
Abnormal heart valve morphology
Gastrointestinal dysmotility
Strabismus
Pain
Motor delay
Headache
Abdominal pain
Autism
Photophobia
Pallor
Attention deficit hyperactivity disorder
Nausea
Abnormal autonomic nervous system physiology
Exercise intolerance
Abnormality of mitochondrial metabolism
Weight loss
Intermittent hyperpnea at rest
Arthralgia
Myalgia
Arthritis
Retinopathy
Neurological speech impairment
Chest pain
Pulmonary arterial hypertension
Myocardial infarction
Subcutaneous nodule
Skin ulcer
Vasculitis
Aortic regurgitation
Psoriasiform dermatitis
Microcephaly
Renal aminoaciduria
Hypoplasia of the corpus callosum
Obesity
Pectus excavatum
Postnatal growth retardation
Wide mouth
Pulmonic stenosis
Nevus
Reduced bone mineral density
Heat intolerance
Hyperkeratosis pilaris
Abnormality of the palpebral fissures
Feeding difficulties
Skeletal muscle atrophy
Respiratory insufficiency
Intellectual disability, severe
Abnormality of the nervous system
Episodic metabolic acidosis
Muscular hypotonia of the trunk
Severe global developmental delay
Unsteady gait
Lactic acidosis
Abnormality of the skin
Progressive neurologic deterioration
Shock
Hypophosphatemia
Muscle fibrillation
Severe lactic acidosis
Methylmalonic aciduria
Necrotizing encephalopathy
Poor motor coordination
Generalized muscular appearance from birth
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
Ventricular septal defect and Joint hypermobility, related diseases and genetic alterations
Intellectual disability, severe and Abnormality of skin pigmentation, related diseases and genetic alterations
Hyperreflexia and Pneumonia, related diseases and genetic alterations
Obesity and Delayed speech and language development, related diseases and genetic alterations
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
Learn more