Hepatomegaly, and Abnormality of skin pigmentation

Diseases related with Hepatomegaly and Abnormality of skin pigmentation

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

Top matches:

The Rotor type of hyperbilirubinemia is an autosomal recessive form of primary conjugated hyperbilirubinemia. It is similar to Dubin-Johnson syndrome (DJS ) in that affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. However, Rotor syndrome can be distinguished from DJS by a lack of hepatocyte pigment deposits, delayed plasma clearance of the unconjugated anionic dye bromsulfthalein, poor hepatic visualization on certain radiographic imaging studies, and prominent urinary excretion of coproporphyrin I (summary by van de Steeg et al., 2012).

HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR Is also known as rotor syndrome

Related symptoms:

  • Hepatomegaly
  • Fever
  • Fatigue
  • Abnormality of the skeletal system
  • Abdominal pain


SOURCES: OMIM MENDELIAN

More info about HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR

Classical mycosis fungoides is the most common type of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.

CLASSIC MYCOSIS FUNGOIDES Is also known as mycosis fungoides, alibert-bazin type

Related symptoms:

  • Hepatomegaly
  • Edema
  • Splenomegaly
  • Alopecia
  • Hyperkeratosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CLASSIC MYCOSIS FUNGOIDES

X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.

X-LINKED SIDEROBLASTIC ANEMIA Is also known as anemia, hereditary sideroblastic|xlsa|anemia, hypochromic|anemia, sideroblastic, x-linked|anh1|hereditary iron-loading anemia

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Anemia
  • Hepatomegaly
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA

Other less relevant matches:

A rare, autosomal recessive genetic syndrome caused by mutations in the RAB27A gene. It is characterized by hypopigmentation of the skin, hair and eyes, recurrent infections, neutropenia, and immune system abnormalities. Patients are prone to develop hemophagocytic lymphohistiocytosis.

GRISCELLI SYNDROME TYPE 2 Is also known as hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|griscelli-pruniÉras syndrome type 2

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Hypertonia
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about GRISCELLI SYNDROME TYPE 2

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.

CHRONIC GRANULOMATOUS DISEASE Is also known as chronic septic granulomatosis|cgd

Related symptoms:

  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Recurrent respiratory infections
  • Malabsorption


SOURCES: ORPHANET MENDELIAN

More info about CHRONIC GRANULOMATOUS DISEASE

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

Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY SYNDROME

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

Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis

Related symptoms:

  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

Top 5 symptoms//phenotypes associated to Hepatomegaly and Abnormality of skin pigmentation

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Fever Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Delayed puberty Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Abnormality of skin pigmentation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Fatigue Lymphadenopathy Hyperpigmentation of the skin Cirrhosis

Rare Symptoms - Less than 30% cases

Immunodeficiency Elevated hepatic transaminase T-cell lymphoma Impotence Cutaneous T-cell lymphoma Dyspnea Hepatosplenomegaly Vertigo Weight loss Diabetes mellitus Hypopigmentation of the skin Increased serum ferritin Obesity Cardiomyopathy Congestive heart failure Abnormality of iron homeostasis Osteoporosis Hypogonadism Seizures Poikiloderma Abnormal lymphocyte morphology Irregular hyperpigmentation Hypotrichosis Abdominal pain Jaundice Hyperbilirubinemia Peripheral neuropathy Erythroderma Skeletal muscle atrophy Edema Skin rash Pruritus Arthropathy Dry skin Eczema Lymphoma Neoplasm of the skin Skin ulcer Cholestasis Abnormality of the liver Thickened skin Abnormality of the face Arthritis Lethargy Dilated cardiomyopathy Infertility Amenorrhea Hypogonadotrophic hypogonadism Increased adipose tissue Azoospermia Childhood-onset truncal obesity Neoplasm Abnormal eating behavior Arrhythmia Abnormal facial shape Hypertension Pain Palmoplantar keratoderma Lichenification Abnormality of the pleura Ectropion Gangrene Tremor Nail dystrophy Abnormal immunoglobulin level Elevated serum creatine phosphokinase Portal hypertension Arthralgia Scleroderma Raynaud phenomenon Achilles tendon contracture Heat intolerance Thin eyebrow Erysipelas Mottled pigmentation Retinopathy Pulmonary fibrosis Hepatic steatosis Ascites Limitation of joint mobility Gynecomastia Joint dislocation Hepatocellular carcinoma Exocrine pancreatic insufficiency Chondrocalcinosis Truncal obesity Clubbing Generalized hyperpigmentation Flexion contracture Congenital hepatic fibrosis Increased serum iron Abnormality of the anterior pituitary Elevated transferrin saturation Abnormality of endocrine pancreas physiology Scoliosis Cataract Gait disturbance Hypohidrosis Myopathy Hypoglycemic seizures Pneumonia Hyperhidrosis Papule Nail dysplasia Fine hair Telangiectasia Central adrenal insufficiency Acidosis Red hair Sideroblastic anemia Glucose intolerance Microcytic anemia Macrocytic anemia Megaloblastic anemia Anemia of inadequate production Hypochromic microcytic anemia Hypocholesterolemia Hypolipidemia Falls Thiamine-responsive megaloblastic anemia Hypertonia Nausea and vomiting Neutropenia Pancytopenia Hyperlipidemia Premature graying of hair Myelodysplasia Pallor Hypopigmentation of hair Hyperkeratosis Abnormality of the skeletal system Abnormality of coagulation Conjugated hyperbilirubinemia Biliary tract abnormality Abnormal urinary color Abnormality of the gastric mucosa Erythema Anemia Abnormality of the nail Hypopigmented skin patches Psoriasiform dermatitis Abnormal eyelid morphology Abnormality of bone marrow cell morphology Skin plaque Ataxia Petechiae Iris hypopigmentation Gonadotropin deficiency Hyperinsulinemia Delayed skeletal maturation Agenesis of corpus callosum Hypoglycemia Hepatic failure Growth hormone deficiency Increased body weight Acanthosis nigricans Hyponatremia Growth delay Adrenal insufficiency Polyphagia Neonatal hypoglycemia Adrenal hypoplasia Decreased circulating cortisol level Pituitary hypothyroidism Adrenocorticotropic hormone deficiency Failure to thrive Liver abscess Pulmonary infiltrates Sinusitis Hemophagocytosis Partial albinism Recurrent respiratory infections Malabsorption Sepsis Otitis media Cutaneous photosensitivity Meningitis Abnormality of neutrophils Pyloric stenosis Tracheoesophageal fistula Hypermelanotic macule Macule Gingivitis Chronic obstructive pulmonary disease Inflammatory abnormality of the eye Mediastinal lymphadenopathy Abnormality of the hypothalamus-pituitary axis


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