Hepatomegaly, and Hypopigmentation of the skin

Diseases related with Hepatomegaly and Hypopigmentation of the skin

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

Top matches:

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

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-pruni√Čras syndrome type 2

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Hypertonia
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about GRISCELLI SYNDROME TYPE 2

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:

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

A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis|histiocytosis, sea-blue

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Gait disturbance


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SEA-BLUE HISTIOCYTOSIS

Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by Ammann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 10; HPS10

Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

Top 5 symptoms//phenotypes associated to Hepatomegaly and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Recurrent infections Neutropenia Edema Pulmonary infiltrates Albinism Lymphadenopathy Global developmental delay Thrombocytopenia Ataxia Partial albinism Pneumonia Petechiae Pancytopenia Failure to thrive Jaundice Generalized hypotonia Hemophagocytosis Fever Muscular hypotonia Intellectual disability

Rare Symptoms - Less than 30% cases

Low-set ears Sepsis Ascites Fair hair Gait disturbance Coarse facial features Recurrent bacterial infections Hydrocephalus Pulmonary fibrosis Granulocytopenia Generalized edema Epicanthus Ocular albinism Smooth philtrum Microcephaly Leukemia Abnormal bleeding Abnormality of the nervous system Hypertriglyceridemia Purpura Peripheral demyelination Retrognathia Histiocytosis Aspiration Recurrent respiratory infections Cerebral atrophy Hyperbilirubinemia Leukopenia Hyponatremia Respiratory tract infection Hypertonia T-cell lymphoma Hypopigmented skin patches Obesity Hepatic failure Skin rash Poikiloderma Delayed puberty Iris hypopigmentation Premature graying of hair Nausea and vomiting Alopecia Hyperlipidemia Lymphoma Nephrotic syndrome Premature birth Cardiomegaly Abnormality of the foot Meningitis Accumulation of melanosomes in melanocytes Severe global developmental delay Corneal opacity Osteopenia Increased intracranial pressure Eosinophilia Encephalitis Hypoalbuminemia Hemiplegia Abnormality of the coagulation cascade Combined immunodeficiency Gingival overgrowth Metaphyseal irregularity Gliosis Anemia Periodontitis Acetabular dysplasia J-shaped sella turcica Interstitial pneumonitis Vacuolated lymphocytes Congenital neutropenia Intermittent thrombocytopenia Aberrant melanosome maturation Neoplasm Visceromegaly Encephalopathy Hydrops fetalis Elevated hepatic transaminase Irritability Conjugated hyperbilirubinemia Dysostosis multiplex Abnormality of the liver Confusion Hemolytic anemia Esophageal atresia Coma Tetraplegia Abnormality of the thorax Increased antibody level in blood Increased CSF protein Episodic fever Reduced tendon reflexes Lethargy Abnormality of movement High palate Abnormal cerebellum morphology Decreased antibody level in blood Hepatitis Progressive neurologic deterioration Encephalocele Bone marrow hypocellularity Cranial nerve paralysis Pyloric stenosis Abnormality of the skeletal system Abnormality of lipid metabolism Abnormal eyelash morphology Abnormal eyebrow morphology Edema of the lower limbs White hair Abnormality of neutrophils Reduced delayed hypersensitivity Cutaneous anergy Ptosis Silver-gray hair Rigidity Anteverted nares Severe combined immunodeficiency Prolonged prothrombin time Melanin pigment aggregation in hair shafts Inguinal hernia Increased serum ferritin Acute leukemia Hypoproteinemia Hernia Prolonged partial thromboplastin time Dilatation Congestive heart failure Decreased HDL cholesterol concentration Cellular immunodeficiency Spasticity Increased LDL cholesterol concentration Increased total bilirubin Increased VLDL cholesterol concentration Hypofibrinogenemia CSF pleocytosis Cerebellar atrophy Polyneuritis Plasmacytosis Lipogranulomatosis Abnormal natural killer cell physiology Short stature Vomiting Generalized tonic-clonic seizures Hip dysplasia Hypoglycemic seizures Hyperinsulinemia Adrenal insufficiency Polyphagia Neonatal hypoglycemia Adrenal hypoplasia Decreased circulating cortisol level Pituitary hypothyroidism Adrenocorticotropic hormone deficiency Gonadotropin deficiency Red hair Central adrenal insufficiency Increased body weight Increased adipose tissue Childhood-onset truncal obesity Abnormal eating behavior Scoliosis Muscle weakness Cataract Flexion contracture Skeletal muscle atrophy Myopathy Elevated serum creatine phosphokinase Hyperhidrosis Acanthosis nigricans Cholestasis Papule Irregular hyperpigmentation Hyperkeratosis Erythema Pruritus Hypotrichosis Dry skin Eczema Skin ulcer Abnormality of the nail Neoplasm of the skin Psoriasiform dermatitis Erythroderma Abnormal eyelid morphology Growth hormone deficiency Abnormality of bone marrow cell morphology Skin plaque Abnormal lymphocyte morphology Cutaneous T-cell lymphoma Hypopigmentation of hair Growth delay Delayed skeletal maturation Agenesis of corpus callosum Weight loss Acidosis Hypoglycemia Dyspnea Nail dysplasia Carious teeth Strabismus Dystonia Macrotia EEG abnormality Muscular hypotonia of the trunk Generalized myoclonic seizures Delayed myelination Hypotelorism Interstitial pulmonary abnormality Arachnoid cyst Pierre-Robin sequence Hearing impairment Abnormal facial shape Sea-blue histiocytosis Visual impairment Motor delay Wide nasal bridge Intellectual disability, mild Long philtrum Posteriorly rotated ears Upslanted palpebral fissure Reduced visual acuity Thin upper lip vermilion Photophobia Conductive hearing impairment Feeding difficulties Elevated serum acid phosphatase Fine hair Peripheral neuropathy Telangiectasia Hypohidrosis Clubbing Truncal obesity Scleroderma Raynaud phenomenon Achilles tendon contracture Heat intolerance Thin eyebrow Erysipelas Mottled pigmentation Dementia Absent axillary hair Abnormality of the eye Retinopathy Cirrhosis Subcutaneous nodule Hyperpigmentation of the skin Cafe-au-lait spot Autoimmune thrombocytopenia Blepharitis Mucopolysacchariduria Chronic myelogenous leukemia Mediastinal lymphadenopathy Fetal ascites


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