Hepatomegaly, and Hirsutism

Diseases related with Hepatomegaly and Hirsutism

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

Top matches:

Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH 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

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

Other less relevant matches:

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

Medium match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

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

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

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

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY

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 Hepatomegaly and Hirsutism

Symptoms // Phenotype % cases
Splenomegaly Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Coarse facial features Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hyperactivity

Uncommon Symptoms - Between 30% and 50% cases

Insulin resistance Acanthosis nigricans Lipodystrophy Sleep disturbance Hepatic steatosis Hypertriglyceridemia Synophrys Dysostosis multiplex Asymmetric septal hypertrophy Hypertrichosis Generalized hirsutism Behavioral abnormality Diarrhea Hearing impairment Joint stiffness Hyperinsulinemia Hypertrophic cardiomyopathy Hepatosplenomegaly Lipoatrophy Recurrent upper respiratory tract infections Ovoid thoracolumbar vertebrae Thickened ribs Coarse hair Heparan sulfate excretion in urine Skeletal muscle hypertrophy Polycystic ovaries Cognitive impairment Cirrhosis Hypertension Growth abnormality Intellectual disability, mild Hernia Epidermal acanthosis Dense calvaria Umbilical hernia Elevated hepatic transaminase Diabetes mellitus Decreased serum leptin Pancreatitis Congestive heart failure Generalized lipodystrophy Low-set ears Myopathy Reduced subcutaneous adipose tissue Ataxia

Rare Symptoms - Less than 30% cases

Limb ataxia Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Progressive neurologic deterioration Peripheral neuropathy Acute pancreatitis Decreased HDL cholesterol concentration Bone cyst Cellular metachromasia Mandibular prognathia Tremor Cardiomyopathy Cerebellar atrophy Macrotia Triangular face Long foot Abnormality of the genital system Nephrolithiasis Tall stature Accelerated skeletal maturation Clitoral hypertrophy Large hands Xanthomatosis Secondary amenorrhea Aggressive behavior Prominent forehead Frontal bossing Depressed nasal bridge Loss of speech Dysphagia Hypertelorism Delayed speech and language development Respiratory tract infection Myalgia Developmental regression Generalized muscular appearance from birth Cystic angiomatosis of bone Reduced intrathoracic adipose tissue Thin skin Restlessness Labial hypertrophy Atherosclerosis Dementia Insulin-resistant diabetes mellitus at puberty Prominent umbilicus Coronary artery atherosclerosis Aplasia/Hypoplasia of the skin Congenital generalized lipodystrophy Polyphagia Decreased fertility in females Insulin-resistant diabetes mellitus Oligomenorrhea Protuberant abdomen High pitched voice 2-3 toe syndactyly Expressive language delay Thick eyebrow Absent speech Flexion contracture Dysarthria Anteverted nares Long hallux Short neck Prolonged prothrombin time Abnormality of the mitochondrion Periorbital fullness Thoracic hypoplasia Prolonged partial thromboplastin time Upper airway obstruction Difficulty walking Episodic abdominal pain Spinal deformities Wide mouth Hypoplastic nipples Thick lower lip vermilion Retinal degeneration Chronic diarrhea Muscle hypertrophy of the lower extremities 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 Proximal upper limb muscle hypertrophy Supraventricular arrhythmia Dilatation Hyperhidrosis Autoimmunity Nephropathy Hyperlipidemia Abnormality of lipid metabolism Angina pectoris Abnormality of the ovary Abnormal atrioventricular conduction Advanced eruption of teeth Progressive hearing impairment Kyphoscoliosis Drooling Failure to thrive Dysmetria Hyperkinesis Neurodegeneration Cardiomegaly Motor delay Rod-cone dystrophy Dolichocephaly Precocious atherosclerosis Everted lower lip vermilion Motor deterioration Micrognathia Round face Abnormality of the nail Ventricular arrhythmia Premature graying of hair Progeroid facial appearance Osteolytic defects of the phalanges of the hand Cholelithiasis Intellectual disability, severe Sleep apnea Primary amenorrhea Caudate atrophy Poor motor coordination Reduced intraabdominal adipose tissue Infertility Amenorrhea Myocardial infarction Abnormality of the face Progressive encephalopathy Hyperglycemia Abnormality of the musculature Hyperuricemia Maternal diabetes Preeclampsia Abnormality of the neck Progressive psychomotor deterioration Limb dystonia Hyperlipoproteinemia Encephalopathy Spasticity Hyperreflexia Respiratory insufficiency Hypertonia Dystonia Cerebral atrophy Myoclonus Brisk reflexes Respiratory failure Gait ataxia Mental deterioration Abnormal pyramidal sign Neuronal loss in central nervous system Status epilepticus Tetraparesis Prominent superficial veins Calf muscle pseudohypertrophy Hoarse voice Abdominal pain Epicanthus Wide nasal bridge Macrocephaly Long philtrum Abnormality of metabolism/homeostasis Inguinal hernia Thin upper lip vermilion Pain Attention deficit hyperactivity disorder Smooth philtrum Joint hypermobility High, narrow palate Macroglossia Memory impairment Low posterior hairline High palate Abnormal facial shape Loss of facial adipose tissue Thick hair Eclampsia Prominent veins on trunk Abnormality of skeletal muscle fiber size Loss of gluteal subcutaneous adipose tissue Marked muscular hypertrophy Decreased fertility Pneumonia Scoliosis Cerebral cortical atrophy Corneal opacity Split hand Thickened calvaria Visceromegaly Central nervous system degeneration Generalized hypotonia Glioma


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