Cardiomyopathy, and Hypertrichosis

Diseases related with Cardiomyopathy and Hypertrichosis

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


Top matches:

Low match LEIGH SYNDROME WITH LEUKODYSTROPHY


LEIGH SYNDROME WITH LEUKODYSTROPHY Is also known as leigh disease with leukodystrophy|infantile subacute necrotizing encephalopathy with leukodystrophy

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about LEIGH SYNDROME WITH LEUKODYSTROPHY

Low match URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU


URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

Related symptoms:

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2


Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Is also known as berardinelli-seip congenital lipodystrophy, type 2|brunzell syndrome, bscl2-related|lipoatrophic diabetes, congenital|seip syndrome|lipodystrophy, total, and acromegaloid gigantism|lipodystrophy, berardinelli-seip congenital, type 2|berardinelli syndrome

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

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Other less relevant matches:

Low match LEIGH SYNDROME; LS


Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system, including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas of the central nervous system are involved. The most common underlying cause is a defect in oxidative phosphorylation (Dahl, 1998).Leigh syndrome may be a feature of a deficiency of any of the mitochondrial respiratory chain complexes: complex I deficiency (OMIM ), complex II deficiency (OMIM ), complex III deficiency (OMIM ), complex IV deficiency (cytochrome c oxidase; {220110}), or complex V deficiency (OMIM ).

LEIGH SYNDROME; LS Is also known as necrotizing encephalopathy, infantile subacute, of leigh|sne

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about LEIGH SYNDROME; LS

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A


The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D


The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B


Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005).For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Is also known as sanfilippo syndrome b|mps iiib|n-acetyl-alpha-d-glucosaminidase deficiency|naglu deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C


Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

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

Low match MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS


MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Hypertrichosis

Symptoms // Phenotype % cases
Hirsutism Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypertrophic cardiomyopathy

Uncommon Symptoms - Between 30% and 50% cases


Synophrys

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Asymmetric septal hypertrophy Hearing impairment Dysostosis multiplex Coarse facial features Coarse hair Sleep disturbance Diarrhea Behavioral abnormality Hyperactivity Joint stiffness Ovoid thoracolumbar vertebrae Thickened ribs Heparan sulfate excretion in urine Recurrent upper respiratory tract infections Progressive neurologic deterioration Difficulty walking Peripheral neuropathy Skeletal muscle hypertrophy Ataxia Failure to thrive Hepatic steatosis Hernia Umbilical hernia Dysphagia Low-set ears Hepatosplenomegaly Hyperreflexia Dense calvaria Dysarthria Spasticity Optic atrophy Growth abnormality

Rare Symptoms - Less than 30% cases


Acanthosis nigricans Large hands Clitoral hypertrophy Hyperinsulinemia Lipodystrophy Polycystic ovaries Aggressive behavior Restlessness Prominent forehead Insulin resistance Polyphagia Tall stature Nephrolithiasis Abnormality of the genital system Hypertriglyceridemia Epidermal acanthosis High pitched voice Bone cyst Lipoatrophy Cystic angiomatosis of bone Dementia Respiratory tract infection Neurodegeneration Flexion contracture Cellular metachromasia Abnormal facial shape Limb ataxia Generalized muscular appearance from birth Reduced intrathoracic adipose tissue Long foot Labial hypertrophy Insulin-resistant diabetes mellitus at puberty Prominent umbilicus Decreased serum leptin Congenital generalized lipodystrophy Decreased fertility in females Generalized lipodystrophy Acute pancreatitis Depressed nasal bridge Accelerated skeletal maturation Triangular face Pigmentary retinopathy Wide nose Hip dislocation Cirrhosis Congestive heart failure Decreased activity of the pyruvate dehydrogenase complex Increased CSF lactate Emotional lability Leukodystrophy Increased serum lactate Joint contracture of the hand Ophthalmoplegia Acidosis Dystonia Intellectual disability, severe Anemia Ptosis Muscular hypotonia Strabismus Nystagmus Everted lower lip vermilion Short neck Cognitive impairment Elevated hepatic transaminase Macrotia Mandibular prognathia Intellectual disability, mild Hypertension Proteinuria Recurrent respiratory infections Flared iliac wings Skeletal dysplasia Tremor Large forehead Thick vermilion border Cerebellar atrophy Dysmetria Patent ductus arteriosus Retinal degeneration Cardiomegaly Protuberant abdomen Abnormal heart morphology Acetabular dysplasia Drooling Pectus excavatum Progressive hearing impairment Motor delay Macrovesicular hepatic steatosis Thrombocytopenia J-shaped sella turcica Chronic diarrhea Respiratory distress Atrial septal defect Thick lower lip vermilion Thick eyebrow Obstructive lung disease Wide mouth Hypertelorism Beaking of vertebral bodies Macroglossia Abnormal pyramidal sign Angina pectoris Abnormality of the ovary Thickened skin Glioma Long eyelashes Epicanthus Pectus carinatum Oligomenorrhea Wide nasal bridge Abnormal lung morphology Cerebral calcification Delayed myelination Abnormality of the foot Brain atrophy Bone marrow hypocellularity Abnormality of lipid metabolism Rod-cone dystrophy Motor deterioration Kyphoscoliosis Tubular atrophy Barrel-shaped chest Abnormality of the skeletal system Dolichocephaly Loss of speech Focal segmental glomerulosclerosis Insulin-resistant diabetes mellitus Dilatation Telecanthus Diabetes mellitus Autoimmunity Nephropathy Glomerulosclerosis Hyperlipidemia Hyperhidrosis Muscular hypotonia of the trunk Absent speech Hyperplasia of the maxilla Abnormality of the voice Hallux valgus Broad palm Eclabion Limited elbow movement Brachyturricephaly Camptodactyly of toe Congenital hip dislocation Progressive pes cavus Broad nail Marked muscular hypertrophy Pugilistic facies Dislocation of toes Pancreatitis Prominent supraorbital ridges Mitral regurgitation Thick hair Focal T2 hyperintense basal ganglia lesion Ventricular septal defect Apnea Abnormality of movement Progressive cerebellar ataxia Progressive spastic paraplegia Decreased activity of mitochondrial respiratory chain Scoliosis Ventricular hypertrophy Downslanted palpebral fissures Kyphosis Elevated serum creatine phosphokinase Pes cavus Posteriorly rotated ears Retrognathia Prominent nose Decreased fertility Generalized hypotonia Anteverted nares Pneumonia Abnormal pattern of respiration Respiratory arrest Hepatocellular necrosis Mitochondrial respiratory chain defects Episodic metabolic acidosis Delayed speech and language development Cerebral cortical atrophy Failure to thrive in infancy Corneal opacity Split hand Thickened calvaria Visceromegaly Central nervous system degeneration Frontal bossing CNS demyelination Incoordination Sensorineural hearing impairment Abnormality of the eye Skeletal muscle atrophy Gait disturbance Respiratory insufficiency Cerebral atrophy Encephalopathy Respiratory failure Developmental regression Truncal ataxia Pallor Abnormality of eye movement Lactic acidosis Metabolic acidosis Gliosis Peripheral demyelination Optic disc pallor Hypoplastic acetabulae



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