Hepatomegaly, and Amenorrhea

Diseases related with Hepatomegaly and Amenorrhea

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


Top matches:

High match HEMOCHROMATOSIS TYPE 2


Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

High 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

High match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

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Other less relevant matches:

High 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

High match FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE


Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

High match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4


Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

High match BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY


Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

High match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

High match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Medium match AKT2-RELATED FAMILIAL PARTIAL LIPODYSTROPHY


AKT2-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as akt2-related fpld

Related symptoms:

  • Hepatomegaly
  • Hepatic steatosis
  • Hypertriglyceridemia
  • Insulin resistance
  • Acanthosis nigricans


SOURCES: ORPHANET MENDELIAN

More info about AKT2-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Amenorrhea

Symptoms // Phenotype % cases
Diabetes mellitus Very Common - Between 80% and 100% cases
Congestive heart failure Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Hypertriglyceridemia Common - Between 50% and 80% cases
Insulin resistance Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Lipodystrophy

Uncommon Symptoms - Between 30% and 50% cases


Hepatic steatosis

Common Symptoms - More than 50% cases


Myopathy

Uncommon Symptoms - Between 30% and 50% cases


Acanthosis nigricans

Common Symptoms - More than 50% cases


Pancreatitis

Uncommon Symptoms - Between 30% and 50% cases


Polycystic ovaries

Common Symptoms - More than 50% cases


Myalgia

Uncommon Symptoms - Between 30% and 50% cases


Lipoatrophy Epidermal acanthosis Hypertension Cardiomyopathy Arrhythmia Atherosclerosis Osteoporosis Loss of subcutaneous adipose tissue in limbs Hypertrophic cardiomyopathy Skeletal muscle hypertrophy Hirsutism Dysmenorrhea Secondary amenorrhea Generalized hirsutism Abnormality of skeletal muscle fiber size Thin skin Muscle weakness Short stature Hyperinsulinemia Cirrhosis Global developmental delay Failure to thrive Reduced subcutaneous adipose tissue Elevated hepatic transaminase Delayed skeletal maturation Hypogonadism Prominent superficial veins Xanthomatosis Oligomenorrhea Recurrent infections Decreased HDL cholesterol concentration Growth hormone deficiency Pain Flexion contracture Intellectual disability Congenital generalized lipodystrophy Generalized lipodystrophy Glomerulopathy Hyperlipidemia Ventriculomegaly Ventricular hypertrophy Atrial fibrillation Increased intraabdominal fat Osteopenia Anemia Growth delay Insulin-resistant diabetes mellitus Hypothyroidism Hyperpigmentation of the skin Myocardial infarction Infertility Delayed puberty Hypogonadotrophic hypogonadism Dilated cardiomyopathy Abnormality of the liver Hepatosplenomegaly Azoospermia Abdominal pain Hyperglycemia Aplasia/Hypoplasia of the skin Coronary artery atherosclerosis

Rare Symptoms - Less than 30% cases


Accelerated skeletal maturation Abnormality of the skeletal system Gingival overgrowth Impotence Arthropathy Palpitations Type I diabetes mellitus Bradycardia Dilatation Cataract Skeletal muscle atrophy Increased adipose tissue around the neck Muscle stiffness Increased facial adipose tissue Decreased adiponectin level Advanced eruption of teeth Hyperuricemia Decreased serum leptin Exercise intolerance Increased serum ferritin Hypertelorism Hypertrichosis Lethargy Constipation Elevated serum creatine phosphokinase Vomiting Arthritis Dysphagia Feeding difficulties Scoliosis Generalized hypotonia Malabsorption Sudden cardiac death Hyperlordosis Ichthyosis Apnea Protruding ear Polyneuropathy Adipose tissue loss Osteolytic defects of the phalanges of the hand Bilateral sensorineural hearing impairment Dyspnea Pyloric stenosis Hepatic failure Prominent supraorbital ridges Nephropathy Telangiectasia Fever Pulmonary arterial hypertension Alopecia Increased serum iron Fatigue Recurrent fractures Hyperreflexia Ataxia Elevated transferrin saturation Atlantoaxial dislocation Peripheral neuropathy Eclampsia Hearing impairment Renal insufficiency Hyperlipoproteinemia Primary amenorrhea Abnormality of the foot Ptosis Sensorineural hearing impairment Maternal diabetes Abnormal levels of creatine kinase in blood Cardiomegaly Prolonged QTc interval IgA deficiency Ventricular arrhythmia Abnormality of the nail Round face Micrognathia Prolonged QT interval Spinal rigidity Progressive proximal muscle weakness Ileus Exercise-induced myalgia Reduced tendon reflexes Truncal ataxia Ischemic stroke Involuntary movements Hemiparesis EMG abnormality Anorexia Psychosis Abnormality of retinal pigmentation Hallucinations Cerebral visual impairment Type II diabetes mellitus Status epilepticus Hip dysplasia Left ventricular hypertrophy Ragged-red muscle fibers Purpura Clonus Nephrotic syndrome Specific learning disability Cardiac arrest Cerebral calcification External ophthalmoplegia Pigmentary retinopathy Macular degeneration Abnormality of the cardiovascular system Generalized-onset seizure Decreased body weight Generalized tonic-clonic seizures Memory impairment Visual loss Photophobia Jaundice Gastroesophageal reflux Acidosis Autism Weight loss Gait ataxia Cerebral cortical atrophy Myoclonus Dementia Rod-cone dystrophy Cerebellar hypoplasia Hyporeflexia Areflexia Encephalopathy Anxiety Depressivity Cerebral atrophy Headache Kyphosis Dystonia Hypertonia Abnormality of the dentition Diarrhea Cerebellar atrophy Blindness Respiratory distress Short neck Respiratory insufficiency Gait disturbance EEG abnormality Proteinuria Increased serum lactate Dysmetria Migraine Sensory impairment Generalized myoclonic seizures Abnormal cerebellum morphology Muscle cramps Postural instability Coma Polymicrogyria Nausea Lactic acidosis Peripheral axonal neuropathy Vertigo Confusion Paresthesia Anal atresia Mental deterioration Stroke Feeding difficulties in infancy Developmental regression Abnormality of the pinna Erythema Nyctalopia Attention deficit hyperactivity disorder Neurological speech impairment Nausea and vomiting Pruritus Mutism Arthrogryposis multiplex congenita Ophthalmoplegia Congenital cataract Carious teeth Hypopigmented skin patches Abnormality of immune system physiology Schizophrenia Retinal pigment epithelial atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Proximal tubulopathy Abnormality of peripheral nerve conduction Speech apraxia Spontaneous hematomas Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Leber optic atrophy Gastroparesis Facial diplegia Cochlear malformation Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Edema of the dorsum of hands Amaurosis fugax Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Aortic dissection Cardiorespiratory arrest Goiter Ophthalmoparesis Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Hyponatremia Vestibular dysfunction Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Aphasia Dysphasia Delusions Atopic dermatitis Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Drowsiness Hyperkalemia Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Optic atrophy Thyroiditis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Visual field defect Tremor Abnormal cardiac septum morphology Dysarthria Abnormality of complement system Proximal muscle weakness Neonatal hypotonia Rigidity Talipes equinovarus Increased intramuscular fat Labial pseudohypertrophy Myelin tomacula Enlarged peripheral nerve Loss of truncal subcutaneous adipose tissue Sunken cheeks Osteopoikilosis Joint stiffness Absence of subcutaneous fat Abnormality of the menstrual cycle Acute pancreatitis Angina pectoris Peripheral arterial stenosis Abnormality of lipid metabolism Short clavicles Cellulitis Cranial nerve paralysis Spontaneous abortion Postnatal growth retardation Distal muscle weakness Narrow chest Cutis marmorata Generalized muscle hypertrophy Prominent umbilicus Abnormality of upper lip Atlantoaxial instability Polymorphic ventricular tachycardia Fasting hyperinsulinemia Supraventricular tachycardia Protuberant abdomen Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Ventricular fibrillation Muscular dystrophy Failure to thrive in infancy Reduced bone mineral density Delayed gross motor development Ventricular tachycardia Recurrent bacterial infections Pointed chin Sparse and thin eyebrow Long eyelashes Generalized muscle weakness Tachycardia Spastic paraplegia Thin vermilion border Papule Muscle mounding Prominent veins on trunk Abnormal joint morphology Pleural effusion Hepatic fibrosis Hepatitis Ascites Carcinoma Arthralgia Neoplasm Marked muscular hypertrophy Loss of gluteal subcutaneous adipose tissue Loss of facial adipose tissue Pericarditis Calf muscle pseudohypertrophy Abnormality of the neck Preeclampsia Abnormality of the musculature Abnormality of the face Abnormality of endocrine pancreas physiology Abnormality of the anterior pituitary Abnormality of iron homeostasis Congenital hepatic fibrosis Generalized hyperpigmentation Portal hypertension Osteomalacia Hepatocellular carcinoma High forehead Precocious atherosclerosis Pectus excavatum Obesity Proximal upper limb muscle hypertrophy Muscle hypertrophy of the lower extremities Acroosteolysis of distal phalanges (feet) Minimal subcutaneous fat Accelerated atherosclerosis Narrow nasal ridge Abnormal atrioventricular conduction Supraventricular arrhythmia Progeroid facial appearance Increased reactive oxygen species production Premature graying of hair Aceruloplasminemia Constrictive pericarditis Cholangiocarcinoma Microvesicular hepatic steatosis Abnormal glucose tolerance Alcoholism Testicular atrophy Restrictive cardiomyopathy Neoplasm of the liver Acute hepatic failure Cervical spine instability Immunodeficiency Motor delay Episodic fever Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Polycythemia Histiocytosis Scleroderma Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Leukocytosis Stridor Psoriasiform dermatitis Sleep apnea Plagiocephaly Osteolysis Skin nodule Reticulocytopenia Hypergonadotropic hypogonadism Cervical lymphadenopathy Visual impairment Cognitive impairment Muscular hypotonia Nystagmus Microcephaly Seizures Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Stiff skin Chronic rhinitis Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Elbow flexion contracture Aspiration Hyperhidrosis Brachydactyly Clinodactyly Hernia Intellectual disability, mild Edema Atrial septal defect Hydrocephalus Anteverted nares Ventricular septal defect Frontal bossing Wide nasal bridge Epicanthus Abnormal heart morphology Abnormal oral cavity morphology Arterial stenosis Bone cyst Broad foot Growth hormone excess Large hands Precocious puberty Abnormality of the hair Thickened skin Abnormality of skin pigmentation Mandibular prognathia Patent ductus arteriosus Pneumonia Gynecomastia Lymphadenopathy Bronchiectasis Blue sclerae Epistaxis Mitral valve prolapse Overgrowth Decreased testicular size Wide intermamillary distance Full cheeks Flat face Cleft upper lip Hypotrichosis Severe short stature Pectus carinatum Retinopathy Abnormality of the kidney Camptodactyly Low-set, posteriorly rotated ears Conductive hearing impairment Pes planus Proptosis Micropenis Hyperkeratosis Posteriorly rotated ears Prominent ear helix



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