Hepatomegaly, and Delayed puberty

Diseases related with Hepatomegaly and Delayed puberty

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

Top matches:

High match ALPHA-THALASSEMIA

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fatigue
  • Splenomegaly
  • Jaundice


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA

Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.

GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY Is also known as glycogenosis type xii|red cell aldolase deficiency|gsd type xii|gsd type 12|gsd xii|aldolase deficiency, red cell|aldoa deficiency|gsd due to aldolase a deficiency|glycogen storage disease type 12|glycogenosis type 12|glycogen storage disease type xii|gly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY

Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.

OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY Is also known as pomc deficiency|proopiomelanocortin deficiency

Related symptoms:

  • Seizures
  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Obesity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY

Other less relevant matches:

GLYCOGEN STORAGE DISEASE IC; GSD1C Is also known as gsd ic

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Renal insufficiency
  • Hypoglycemia
  • Proteinuria


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IC; GSD1C

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

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.

HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME Is also known as poiktmp syndrome|poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Cataract
  • Flexion contracture
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME

CITRULLINEMIA, CLASSIC Is also known as ass deficiency|argininosuccinate synthetase deficiency|citrullinemia, type i|ctln1|citrullinuria

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CITRULLINEMIA, CLASSIC

Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB Is also known as glycogenosis due to glucose-6-phosphatase transport defect type ib|gsd type ib|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease type ib|gsd due to g6p deficiency type ib|glycogen storage disease due to g6p deficiency t

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB

Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

High match CYSTIC FIBROSIS

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

CYSTIC FIBROSIS Is also known as mucoviscidosis|cf

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Pain
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTIC FIBROSIS

Top 5 symptoms//phenotypes associated to Hepatomegaly and Delayed puberty

Symptoms // Phenotype % cases
Hypertension Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abdominal pain Elevated hepatic transaminase Hypoglycemia Cirrhosis Failure to thrive Muscle weakness Seizures

Rare Symptoms - Less than 30% cases

Pulmonary fibrosis Vomiting Respiratory distress Acidosis Hyperlipidemia Focal segmental glomerulosclerosis Clubbing Xanthelasma Xanthomatosis Osteoporosis Pancreatitis Pain Chronic pancreatitis Hepatocellular carcinoma Decreased glomerular filtration rate Gout Hypopigmentation of the skin Obesity Lactic acidosis Myopathy Fatigue Jaundice Hemolytic anemia Portal hypertension Azoospermia Intellectual disability Diarrhea Infertility Respiratory tract infection Abnormality of the liver Diabetes mellitus Recurrent infections Arthritis Proteinuria Lethargy Abnormality of the genital system Elevated erythrocyte sedimentation rate Restrictive ventilatory defect Progressive sensorineural hearing impairment Abnormal palate morphology Vasculitis Conjunctivitis Urticaria Broad foot Cranial nerve paralysis Nephrotic syndrome Nephropathy Abnormality of the voice Ichthyosis Uveitis Fever Skin rash Delayed menarche Episodic ammonia intoxication Hyperglutaminemia Protein avoidance Hypoargininemia Respiratory alkalosis Oroticaciduria Mania Abnormal bleeding Hepatic encephalopathy Cerebral edema Enuresis Echolalia Delusions Insomnia Neutropenia Nephrolithiasis Camptodactyly of finger Optic atrophy Myalgia Arthralgia Glaucoma Pes cavus Abnormality of metabolism/homeostasis Macrocephaly Recurrent aphthous stomatitis Recurrent bacterial infections Doll-like facies Lipemia retinalis Oral ulcer Enlarged kidney Protuberant abdomen Hyperuricemia Inflammation of the large intestine Abnormality of the nose Carcinoma Episcleritis Rectal prolapse Wheezing Hemoptysis Exocrine pancreatic insufficiency Neoplasm of the pancreas Chronic lung disease Chronic obstructive pulmonary disease Cor pulmonale Abnormality of the pancreas Allergy Biliary cirrhosis Ileus Pneumothorax Nasal polyposis Male infertility Chronic infection Secretory diarrhea Obstructive lung disease Productive cough Pancreatic adenocarcinoma Meconium ileus Recurrent bronchopulmonary infections Obstructive azoospermia Absent vas deferens Elevated sweat chloride Biliary tract obstruction Cellular metachromasia Echogenic fetal bowel Bronchitis Steatorrhea Hernia of the abdominal wall Dyskinesia Renal amyloidosis Neoplasm Immunodeficiency Dilatation Recurrent respiratory infections Respiratory failure Gastroesophageal reflux Loss of consciousness Scarring Cough Malabsorption Nausea Abdominal distention Malnutrition Asthma Decreased antibody level in blood Dehydration Abnormal lung morphology Bronchiectasis Insulin resistance Sinusitis Recurrent pneumonia Nephrocalcinosis Tachypnea Hypercalciuria Intestinal obstruction Emphysema Ankle clonus Tremor Abnormality of the coagulation cascade Abnormal eating behavior Neonatal hypoglycemia Adrenal hypoplasia Decreased circulating cortisol level Pituitary hypothyroidism Adrenocorticotropic hormone deficiency Gonadotropin deficiency Red hair Hypoglycemic seizures Central adrenal insufficiency Increased adipose tissue Childhood-onset truncal obesity Renal insufficiency Adrenal insufficiency Hematuria Metabolic acidosis Pulmonary arterial hypertension Hepatoblastoma Spider hemangioma Ketonemia Cardiomyopathy Congestive heart failure Arrhythmia Hypogonadism Dilated cardiomyopathy Amenorrhea Polyphagia Hyponatremia Hypogonadotrophic hypogonadism Normocytic anemia Pallor Poor appetite Hypochromic microcytic anemia Dark urine Reduced alpha/beta synthesis ratio Ptosis Epicanthus Short neck Low posterior hairline Cholelithiasis Rhabdomyolysis Spherocytosis Nonspherocytic hemolytic anemia Hyperinsulinemia Cholecystitis Increased muscle fatiguability Normochromic anemia Delayed skeletal maturation Agenesis of corpus callosum Weight loss Hepatic failure Growth hormone deficiency Cholestasis Increased body weight Hyperbilirubinemia Acanthosis nigricans Hyperpigmentation of the skin Impotence Slurred speech Encephalopathy Erysipelas Mottled pigmentation Global developmental delay Generalized hypotonia Ataxia Spasticity Feeding difficulties Motor delay Edema Hypertonia Behavioral abnormality Headache Visual loss Poikiloderma Irritability Stroke Confusion Hepatic steatosis Coma Aciduria Psychosis Hallucinations Clonus Cerebral palsy Hyperammonemia Increased intracranial pressure Thin eyebrow Heat intolerance Arthropathy Gait disturbance Generalized hyperpigmentation Increased serum ferritin Congenital hepatic fibrosis Increased serum iron Abnormality of iron homeostasis Abnormality of the anterior pituitary Elevated transferrin saturation Abnormality of endocrine pancreas physiology Scoliosis Cataract Flexion contracture Skeletal muscle atrophy Elevated serum creatine phosphokinase Achilles tendon contracture Alopecia Pneumonia Hyperhidrosis Dyspnea Papule Nail dysplasia Fine hair Telangiectasia Hypohidrosis Truncal obesity Scleroderma Raynaud phenomenon Microscopic nephrocalcinosis


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