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:

Medium match PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE; PPKS1


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

Medium 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

Medium match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM


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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium 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

Medium match CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3


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

Medium match FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA


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

Medium match CYCLIC VOMITING SYNDROME; CVS


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

Medium match TAKAYASU ARTERITIS


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

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

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


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
Mendelian

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 Nephrotic syndrome, related diseases and genetic alterations Intellectual disability, severe and Renal agenesis, related diseases and genetic alterations Hyperreflexia and Hypospadias, related diseases and genetic alterations Obesity and Tremor, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more