Hepatomegaly, and Bruising susceptibility

Diseases related with Hepatomegaly and Bruising susceptibility

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

Top matches:

High match DENGUE FEVER

Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).

DENGUE FEVER Is also known as df|dengue virus infection

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Diarrhea
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about DENGUE FEVER

Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.

ESSENTIAL THROMBOCYTHEMIA Is also known as thrombocytosis 1|essential thrombocytosis|et

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system
  • Respiratory distress


SOURCES: ORPHANET OMIM MENDELIAN

More info about ESSENTIAL THROMBOCYTHEMIA

Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae (Keller et al., 2018; Lindahl et al., 2018).

OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16 Is also known as oi, type xvi

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hepatomegaly
  • Congestive heart failure
  • Constipation


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16

Other less relevant matches:

High match POLYCYTHEMIA VERA

Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.

POLYCYTHEMIA VERA Is also known as polycythemia rubra vera|acquired primary erythrocytosis|prv|vaquez disease|osler-vaquez disease|pv

Related symptoms:

  • Neoplasm
  • Visual impairment
  • Hypertension
  • Hepatomegaly
  • Fatigue


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about POLYCYTHEMIA VERA

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.

AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS Is also known as infantile malignant osteopetrosis|osteopetrosis, infantile malignant 2

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS

Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005).Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (OMIM ), and subacute neuronopathic type III (OMIM ). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005).All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (OMIM ), which is a severe form of type II, and Gaucher disease type IIIC (OMIM ), which also has cardiovascular calcifications.See also {610539} for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP ), which is an activator of beta-glucosidase.

GAUCHER DISEASE, TYPE I Is also known as gd i|glucocerebrosidase deficiency|acid beta-glucosidase deficiency|gba deficiency|gaucher disease, noncerebral juvenile

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE I

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

High match WILSON DISEASE

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Top 5 symptoms//phenotypes associated to Hepatomegaly and Bruising susceptibility

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Edema Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Leukopenia Epistaxis Seizures Pancytopenia Leukemia Recurrent respiratory infections Neoplasm Fatigue Tremor Dementia Abnormality of movement Acute leukemia Myeloproliferative disorder Prolonged bleeding time Mental deterioration Jaundice Ataxia Dysphagia Gait disturbance Hearing impairment Spasticity Growth delay Generalized hypotonia Intellectual disability Cirrhosis Lymphadenopathy Neurological speech impairment Visual impairment Weight loss Leukocytosis Pain Myelodysplasia Hypertension Fever Headache Arthralgia Pruritus Nausea and vomiting Ascites Gastrointestinal hemorrhage Cerebral hemorrhage Gingival bleeding Bone pain Paresthesia Vertigo

Rare Symptoms - Less than 30% cases

Abnormality of the cerebral white matter Pallor Hematuria Hemolytic anemia Hyperpigmentation of the skin Clumsiness Abnormality of the eye Respiratory failure Progressive neurologic deterioration Schizophrenia Recurrent infections Proteinuria Peripheral axonal neuropathy Osteoporosis Immunodeficiency Rigidity Cerebellar atrophy Strabismus Difficulty walking Bone marrow hypocellularity Pathologic fracture Peripheral neuropathy Nystagmus Abnormality of the nervous system Hypersplenism Ophthalmoplegia Pneumonia Dystonia Pulmonary arterial hypertension Developmental regression Oral-pharyngeal dysphagia Dysarthria Vertical supranuclear gaze palsy Increased bone mineral density Cranial nerve paralysis Global developmental delay Neurodegeneration Psychosis Failure to thrive Increased megakaryocyte count Abnormality of the skeletal system Short stature Myeloid leukemia Respiratory insufficiency Spontaneous abortion Venous thrombosis Shock Pulmonary embolism Thrombocytosis Myocardial infarction Myelofibrosis Joint hypermobility Recurrent fractures Respiratory distress Lymphoma Skin rash Abdominal pain Dyspnea Arterial thrombosis Vertebral compression fractures Spastic paraplegia Neutropenia Paraplegia Photophobia Falls Sensory neuropathy Decreased liver function Hypopigmentation of the skin Retinoblastoma Abnormality of vision Foot dorsiflexor weakness Skin ulcer Amblyopia Hypertriglyceridemia Cutaneous photosensitivity Abnormality of extrapyramidal motor function Abnormal bleeding Abnormality of the menstrual cycle Bradykinesia Peripheral demyelination Brain atrophy Reduced visual acuity Parkinsonism Premature osteoarthritis Erlenmeyer flask deformity of the femurs Hyporeflexia Hydrops fetalis Acute hepatitis Increased susceptibility to fractures High nonceruloplasmin-bound serum copper Hyperkinesis Osteolysis Aspiration Mixed demyelinating and axonal polyneuropathy Hypersexuality Abnormal lung morphology Generalized myoclonic seizures Delayed puberty Kayser-Fleischer ring Delayed skeletal maturation Encephalopathy Stridor Increased antibody level in blood Areflexia Multiple myeloma Atrial septal defect Skeletal muscle atrophy Melanocytic nevus Mitral valve calcification Aortic valve calcification Abnormal myocardium morphology Chronic fatigue Poor motor coordination Aspiration pneumonia Pulmonary infiltrates Aseptic necrosis Macular atrophy Hypocupremia Pericardial effusion Interstitial pulmonary abnormality Decreased nerve conduction velocity Sensory axonal neuropathy Proximal muscle weakness in lower limbs Back pain Nephrocalcinosis Elevated hepatic transaminase Leukoencephalopathy Drooling Depressivity Abnormality of the hand Hypercalciuria Aminoaciduria Abnormality of mitochondrial metabolism Personality changes Vomiting Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Global brain atrophy Arthritis Muscle stiffness Giant melanosomes in melanocytes Hepatic steatosis Involuntary movements Cholestasis Osteoarthritis Hepatitis Coma Polyneuropathy Hepatic failure Anxiety Nausea Confusion Poor speech Infertility Abnormality of the liver Aggressive behavior Increased body weight Abnormality of multiple cell lineages in the bone marrow Recurrent cutaneous abscess formation Albinism Hypopigmentation of hair Hand tremor Gingivitis Increased reactive oxygen species production Renal tubular dysfunction Acute hepatic failure Iris hypopigmentation Chondrocalcinosis Hypoparathyroidism Esophageal varix Hyperphosphaturia Generalized hyperpigmentation Resting tremor Nephrolithiasis Neoplasm of the liver Menstrual irregularities Periodontitis Fair hair Abnormal leukocyte morphology Hemophagocytosis Hypofibrinogenemia Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Partial albinism Progressive peripheral neuropathy Spinocerebellar tract degeneration Generalized hypopigmentation Glycosuria Osteomalacia Arthropathy Abnormality of blood and blood-forming tissues Joint swelling White hair Hepatocellular carcinoma Cerebral atrophy Visceromegaly Feeding difficulties Abnormal thrombosis Budd-Chiari syndrome Increased hematocrit Increased hemoglobin Portal vein thrombosis Erythroid hyperplasia Intermittent claudication Cerebral ischemia Elevated leukocyte alkaline phosphatase Angina pectoris Deep venous thrombosis Thromboembolism Polycythemia Portal hypertension Tinnitus Increased red blood cell mass Sensorineural hearing impairment Erythema Intracranial hemorrhage Abnormality of the optic nerve Verrucae Hypercoagulability Acute myeloid leukemia Cellulitis Chronic otitis media Lymphedema Epicanthus Hypotelorism Webbed neck Migraine Tapered finger Scarring Visual loss Syndactyly Stroke Beaded ribs Erysipelas Transient ischemic attack Amaurosis fugax Impaired platelet aggregation Abnormal thrombocyte morphology Abnormality of the cerebral vasculature Gangrene Acrocyanosis Chest pain Bloody diarrhea Hypoproteinemia Flushing Cardiorespiratory arrest Petechiae Hypotension Lethargy Diarrhea Abnormality of bone marrow cell morphology Abnormal platelet morphology Fractures of the long bones Blue sclerae Dentinogenesis imperfecta Soft skin Thin ribs Agenesis of permanent teeth Reduced number of teeth Wormian bones Micromelia Decreased mean platelet volume Small for gestational age Conductive hearing impairment Skeletal dysplasia Osteopenia Constipation Congestive heart failure Abnormal platelet aggregation Granulocytopenia Macronodular cirrhosis Opsoclonus Abnormality of metabolism/homeostasis Sepsis Delayed eruption of teeth Narrow chest Craniosynostosis Apnea Facial palsy Hydrocephalus Abnormal blistering of the skin Macrocephaly Optic atrophy Fatal liver failure in infancy Low cholesterol esterification rates Abnormal cholesterol homeostasis Foam cells in visceral organs and CNS Otitis media Abnormality of the ribs Congenital thrombocytopenia Osteopetrosis Optic nerve compression Abnormal pulmonary valve morphology Abnormality of temperature regulation Abnormality of hair texture Chronic rhinitis Premature loss of primary teeth Pulmonary artery stenosis Abnormality of the metaphysis Abnormality of visual evoked potentials Reticulocytosis Hypophosphatemia Reduced bone mineral density Hypocalcemia Abnormality of epiphysis morphology Bowing of the long bones Sea-blue histiocytosis Fetal ascites Abnormal neutrophil count Abnormal pyramidal sign Neuronal loss in central nervous system Chorea Tetraplegia Sleep disturbance Retinal degeneration Generalized tonic-clonic seizures Paralysis Mitral valve prolapse Neonatal hypotonia Myoclonus Behavioral abnormality Intrauterine growth retardation Hyperreflexia Cognitive impairment Muscular hypotonia Oligohydramnios Spastic tetraplegia Rapid neurologic deterioration Supranuclear gaze palsy Bone-marrow foam cells Supranuclear ophthalmoplegia Cataplexy Foam cells Aplasia/Hypoplasia of the abdominal wall musculature Spastic dysarthria Head tremor Intellectual disability, profound Trismus Loss of speech Neurofibrillary tangles Prolonged neonatal jaundice Athetosis Dysphonia Intention tremor Atypical or prolonged hepatitis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Microtia, related diseases and genetic alterations Rod-cone dystrophy and Fatigue, related diseases and genetic alterations