Cardiomyopathy, and Hirsutism

Diseases related with Cardiomyopathy and Hirsutism

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


Top matches:

Low match PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY


This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3|fpld3|pparg-related fpld|lipodystrophy, familial partial, associated with pparg mutations

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

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

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

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Other less relevant matches:

Low match CUSHING DISEASE


Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

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 CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE


Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE Is also known as cytochrome oxidase deficiency, saguenay-lac-saint-jean type|cytochrome c oxidase deficiency, french canadian type|cytochrome c oxidase deficiency, french-canadian type|cox deficiency, french canadian type|leigh syndrome, french-canadian type|slsj-cox defi

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE

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 AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY


Related symptoms:

  • Micrognathia
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY

Low match MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD


Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Hirsutism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Sleep disturbance Joint stiffness Coarse facial features Hyperactivity Lipodystrophy Behavioral abnormality Diarrhea Hearing impairment Insulin resistance Coarse hair Recurrent upper respiratory tract infections Dysphagia Dysostosis multiplex Asymmetric septal hypertrophy Hepatic steatosis Heparan sulfate excretion in urine Thickened ribs Hypertrophic cardiomyopathy Ovoid thoracolumbar vertebrae Diabetes mellitus Failure to thrive Myopathy Synophrys Ataxia Hypertension Lipoatrophy Growth abnormality Dense calvaria Hypertriglyceridemia Generalized hirsutism Acanthosis nigricans Pancreatitis Thin skin Polycystic ovaries Hyperglycemia Skeletal muscle hypertrophy Hypertrichosis Hyperinsulinemia

Rare Symptoms - Less than 30% cases


Delayed speech and language development Progressive neurologic deterioration Round face Decreased serum leptin Low-set ears Dementia Depressed nasal bridge Restlessness Anteverted nares Absent speech Umbilical hernia Nephrolithiasis Limb ataxia Prominent forehead Flexion contracture Aggressive behavior Coronary artery atherosclerosis Cellular metachromasia Atherosclerosis Loss of subcutaneous adipose tissue in limbs Dysmenorrhea Aplasia/Hypoplasia of the skin Generalized hypotonia Epidermal acanthosis Secondary amenorrhea Tremor Decreased HDL cholesterol concentration Cirrhosis Reduced subcutaneous adipose tissue Xanthomatosis Infertility Myalgia Hepatosplenomegaly Congestive heart failure Intellectual disability, mild Hernia Hypertelorism Insulin-resistant diabetes mellitus Loss of speech Stroke Shock Acidosis Motor deterioration Developmental regression Hypoglycemia Cerebellar hypoplasia Micrognathia Abnormality of the nail Ventricular arrhythmia Premature graying of hair Progeroid facial appearance Everted lower lip vermilion Respiratory tract infection Lactic acidosis Breathing dysregulation Precocious atherosclerosis Leukoencephalopathy Low anterior hairline Decreased liver function Tachypnea Broad-based gait Intention tremor Poor suck Anteriorly placed anus Peripheral demyelination Increased CSF lactate Stroke-like episode CNS demyelination Dolichocephaly Microvesicular hepatic steatosis Congenital lactic acidosis Increased hepatocellular lipid droplets Motor delay Rod-cone dystrophy Kyphoscoliosis Increased serum lactate Gliosis Coma Truncal ataxia Metabolic acidosis Highly arched eyebrow Osteolytic defects of the phalanges of the hand Scoliosis Advanced eruption of teeth Respiratory insufficiency due to muscle weakness Limb muscle weakness Lower limb muscle weakness Long face Generalized muscle weakness Waddling gait Decreased fetal movement Lumbar hyperlordosis Atrial fibrillation Clumsiness Progressive muscle weakness Narrow face Congenital hip dislocation Infantile muscular hypotonia Dilated cardiomyopathy Glucose intolerance Multiple joint contractures Bulbar palsy Glycosuria Weak cry Centrally nucleated skeletal muscle fibers Difficulty running Nemaline bodies Limb joint contracture Abnormal glucose tolerance Spinal deformities Postprandial hyperglycemia Ophthalmoplegia Muscular dystrophy Supraventricular arrhythmia Growth delay Abnormal atrioventricular conduction Narrow nasal ridge Accelerated atherosclerosis Increased adipose tissue around the neck Minimal subcutaneous fat Acroosteolysis of distal phalanges (feet) Increased intraabdominal fat Decreased adiponectin level Increased facial adipose tissue Muscle hypertrophy of the lower extremities Proximal upper limb muscle hypertrophy Midface retrusion Muscle weakness Facial palsy Cryptorchidism Ptosis High palate Feeding difficulties Skeletal muscle atrophy Respiratory insufficiency Areflexia Respiratory failure Osteopenia Neonatal hypotonia Proximal muscle weakness Joint laxity Muscular hypotonia of the trunk Hypospadias Aseptic necrosis Malar flattening Decreased fertility in females Clitoral hypertrophy Large hands High pitched voice Polyphagia Decreased fertility Long foot Bone cyst Thick hair Acute pancreatitis Generalized lipodystrophy Congenital generalized lipodystrophy Tall stature Prominent umbilicus Insulin-resistant diabetes mellitus at puberty Labial hypertrophy Reduced intrathoracic adipose tissue Cystic angiomatosis of bone Generalized muscular appearance from birth Intellectual disability, severe Pneumonia Cerebral cortical atrophy Corneal opacity Accelerated skeletal maturation Abnormality of the genital system Thickened calvaria Prominent superficial veins Amenorrhea Myocardial infarction Primary amenorrhea Abnormality of the face Abnormality of the musculature Hyperuricemia Oligomenorrhea Maternal diabetes Preeclampsia Abnormality of the neck Hyperlipoproteinemia Triangular face Calf muscle pseudohypertrophy Loss of facial adipose tissue Eclampsia Prominent veins on trunk Abnormality of skeletal muscle fiber size Loss of gluteal subcutaneous adipose tissue Marked muscular hypertrophy Cognitive impairment Mandibular prognathia Macrotia Elevated hepatic transaminase Split hand Visceromegaly Dystonia Drooling Metrorrhagia Dysarthria Frontal bossing Short neck Difficulty walking Wide mouth Thick eyebrow Thick lower lip vermilion Chronic diarrhea Progressive hearing impairment Peripheral neuropathy Pituitary adenoma Cerebellar atrophy Dysmetria Retinal degeneration Neurodegeneration Cardiomegaly Protuberant abdomen Strabismus Abnormal facial shape Muscular hypotonia Wide nasal bridge Respiratory distress Onychomycosis Adrenal hyperplasia Central nervous system degeneration Lethargy Cataract Visual impairment Fatigue Immunodeficiency Headache Depressivity Visual loss Osteoporosis Abdominal pain Anxiety Bruising susceptibility Bipolar affective disorder Recurrent fractures Psychosis Venous thrombosis Recurrent skin infections Hypokalemia Premature ovarian insufficiency Acne Menorrhagia Truncal obesity Telangiectasia of the skin Generalized hyperpigmentation Type 1 fibers relatively smaller than type 2 fibers



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