Hepatomegaly, and Myelodysplasia

Diseases related with Hepatomegaly and Myelodysplasia

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

Top matches:

Hemoglobin H disease is a subtype of alpha-thalassemia (see {604131}) in which patients have compound heterozygosity for alpha(+)-thalassemia, caused by deletion of one alpha-globin gene, and for alpha(0)-thalassemia, caused by deletion in cis of 2 alpha-globin genes (summary by Lal et al., 2011). When 3 alpha-globin genes become inactive because of deletions with or without concomitant nondeletional mutations, the affected individual has only 1 functional alpha-globin gene. These people usually have moderate anemia and marked microcytosis and hypochromia. In affected adults, there is an excess of beta-globin chains within erythrocytes that will form beta-4 tetramers, also known as hemoglobin H (summary by Chui et al., 2003).Hb H disease is usually caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia, a combination referred to as 'deletional' Hb H disease. In a smaller proportion of patients, Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Such a situation is labeled 'nondeletional' Hb H disease. Patients with nondeletional Hb H disease are usually more anemic, more symptomatic, more prone to have significant hepatosplenomegaly, and more likely to require transfusions (summary by Lal et al., 2011).While most thalassemia-related hydrops fetalis is caused by the lack of all alpha-globin genes, there are reports of fetuses with Hb H disease that developed the hydrops fetalis syndrome; see {236750}.

HEMOGLOBIN H DISEASE; HBH Is also known as alpha-thalassemia, hemoglobin h type|hemoglobin h disease, deletional

Related symptoms:

  • Cognitive impairment
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOGLOBIN H DISEASE; HBH

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

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

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

High match LIG4 SYNDROME

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

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

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.

CHRONIC MYELOID LEUKEMIA Is also known as chronic granulocytic leukemia|cml|leukemia, chronic myelogenous|chronic myelogenous leukemia

Related symptoms:

  • Neoplasm
  • Fever
  • Fatigue
  • Splenomegaly
  • Thrombocytopenia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC MYELOID LEUKEMIA

Top 5 symptoms//phenotypes associated to Hepatomegaly and Myelodysplasia

Symptoms // Phenotype % cases
Leukemia Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Leukocytosis Pancytopenia Myeloid leukemia Vertigo Fatigue Bruising susceptibility Lymphoma Immunodeficiency Acute leukemia Growth delay Myeloproliferative disorder Abnormality of the skeletal system Bone marrow hypocellularity Global developmental delay Headache Thrombocytosis Leukopenia Aplastic anemia Intellectual disability Microcephaly Epicanthus Recurrent infections Malabsorption Hearing impairment Fever Scoliosis Short stature Acute myeloid leukemia Respiratory distress Weight loss Ataxia Cirrhosis Hepatosplenomegaly

Rare Symptoms - Less than 30% cases

Diabetes mellitus Carious teeth Visual impairment Respiratory insufficiency Elevated hepatic transaminase Abnormality of chromosome stability Erythema Telangiectasia of the skin Dyspnea Acute monocytic leukemia Small for gestational age Telangiectasia Tracheoesophageal fistula Hemolytic anemia Neutropenia Lymphadenopathy Abnormality of blood and blood-forming tissues Abnormality of the testis Microcytic anemia Type I diabetes mellitus Hypothyroidism Specific learning disability Upslanted palpebral fissure Clinodactyly of the 5th finger Micrognathia Cryptorchidism Increased megakaryocyte count Pallor Myelofibrosis Cataract Edema Hypertension Hypopigmented skin patches Abnormality of skin pigmentation Myocardial infarction Venous thrombosis Prolonged bleeding time Pulmonary embolism Hyperpigmentation of the skin Intrauterine growth retardation Glucose intolerance Recurrent respiratory infections Arterial thrombosis Abnormality of bone marrow cell morphology Failure to thrive Patent ductus arteriosus Abnormality of the kidney Premature graying of hair Hypogonadism Hypermelanotic macule Abnormality of the liver Postnatal growth retardation Atrial septal defect Irritability Congestive heart failure Renal insufficiency Umbilical hernia Abnormality of the eye Hypertrophic cardiomyopathy Pes planus Carcinoma Pulmonary fibrosis Abnormality of coagulation Microphthalmia Proptosis Severe short stature Abnormality of cardiovascular system morphology Hypospadias Abnormal heart morphology Neurofibromas Cleft palate Macule Abnormal eyelash morphology Porokeratosis Aplastic/hypoplastic toenail Interstitial pneumonitis Abnormality of neutrophils Urethral stenosis Squamous cell carcinoma of the skin Abnormality of the pharynx Testicular atrophy Cellular immunodeficiency Abnormal cardiac septum morphology Blepharitis Neoplasm of the pancreas Abnormality of female internal genitalia Abnormal eyebrow morphology Ridged nail Taurodontia Periodontitis White hair Oral leukoplakia Rough bone trabeculation Nail pits Hydrocephalus Abnormal facial shape Skin vesicle Aplasia/Hypoplasia of the skin Aseptic necrosis Ventriculomegaly Frontal bossing Hyperreflexia High palate Ptosis Strabismus Reticular hyperpigmentation Nystagmus Hypertelorism Absent lacrimal punctum Esophageal stenosis Palmar hyperkeratosis Displacement of the external urethral meatus Premature loss of teeth Congenital bullous ichthyosiform erythroderma Anorectal anomaly Cognitive impairment Azoospermia Finger syndactyly Reticulocytopenia Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Abnormal localization of kidney Partial duplication of thumb phalanx Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the uterus Abnormality of the upper limb Complete duplication of thumb phalanx Clubbing of toes Arteriovenous malformation Aplasia/Hypoplasia of the uvula Abnormal basophil morphology Reduced leukocyte alkaline phosphatase Abnormal granulocyte morphology Chronic myelogenous leukemia Poor appetite Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Neoplasm of head and neck Decreased fertility in males Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents B-cell lymphoma Abnormality of the ulna Hip dislocation Oligohydramnios Insulin resistance Short thumb Cafe-au-lait spot Recurrent urinary tract infections Aganglionic megacolon Abnormality of the genital system Choanal atresia Short palpebral fissure Sloping forehead Spina bifida Tetralogy of Fallot Renal agenesis Hypopigmentation of the skin Astigmatism Anal atresia Facial asymmetry Abnormality of the foot Toe syndactyly Dolichocephaly Abnormal vertebral morphology Hypergonadotropic hypogonadism Abnormal eyelid morphology Hydroureter Chromosome breakage Hearing abnormality External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Multiple cafe-au-lait spots Absent thumb Ectopic kidney Horseshoe kidney Squamous cell carcinoma Hypoplasia of the ulna Triphalangeal thumb Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Renal hypoplasia/aplasia Cranial nerve paralysis Epiphora Recurrent aphthous stomatitis Dermal atrophy Cerebral ischemia Budd-Chiari syndrome Increased hematocrit Increased hemoglobin Portal vein thrombosis Erythroid hyperplasia Intermittent claudication Abnormal thrombosis Angina pectoris Elevated leukocyte alkaline phosphatase Deep venous thrombosis Gingival bleeding Thromboembolism Polycythemia Cerebral hemorrhage Portal hypertension Tinnitus Increased red blood cell mass Delayed speech and language development Gastrointestinal hemorrhage Combined immunodeficiency Syndactyly Cerebellar atrophy Sensorineural hearing impairment Large beaked nose Bird-like facies Severe combined immunodeficiency Biparietal narrowing Psoriasiform dermatitis Wide nasal bridge Low anterior hairline Cutaneous photosensitivity Type II diabetes mellitus Hypoplasia of penis Thin vermilion border Telecanthus Abnormality of the nervous system Brachycephaly Epistaxis Pruritus Respiratory failure Reduced alpha/beta synthesis ratio Hypochromic microcytic anemia Anemia of inadequate production Megaloblastic anemia Macrocytic anemia Falls Muscle weakness Hemoglobin H Hypersplenism Sideroblastic anemia Abnormal hemoglobin Decreased mean corpuscular volume Abnormality of immune system physiology Cholelithiasis Hydrops fetalis Jaundice Pneumonia Hypocholesterolemia Abnormality of iron homeostasis Stroke Impaired platelet aggregation Arthralgia Abdominal pain Abnormal platelet aggregation Decreased mean platelet volume Abnormal platelet morphology Bloody diarrhea Amaurosis fugax Abnormal thrombocyte morphology Hypolipidemia Abnormality of the cerebral vasculature Gangrene Acrocyanosis Transient ischemic attack Chest pain Paresthesia Pain Thiamine-responsive megaloblastic anemia Visual loss Scarring Neoplasm of the skin Paroxysmal nocturnal hemoglobinuria Irregular ossification at anterior rib ends Narrow sacroiliac notch Proximal femoral epiphysiolysis Metaphyseal dysostosis Myocardial necrosis Proximal femoral metaphyseal irregularity Enlargement of the costochondral junction Persistence of hemoglobin F Alopecia Metaphyseal sclerosis Anterior rib cupping Metaphyseal chondrodysplasia Recurrent viral infections Ovoid vertebral bodies Exocrine pancreatic insufficiency Multiple lipomas Abnormality of the dentition Cerebellar hypoplasia Short thorax Nail dysplasia Abnormal intestine morphology Abnormality of the fingernails Lymphopenia Skin ulcer Hepatic fibrosis Cerebral calcification Abnormal blistering of the skin Hypoplasia of the maxilla Hyperhidrosis Hypodontia Recurrent fractures Palmoplantar keratoderma Hepatic failure Nail dystrophy Sparse hair Hyperkeratosis Osteoporosis Steatorrhea Neonatal respiratory distress Neurological speech impairment Cellulitis Abnormal neutrophil count Macronodular cirrhosis Erysipelas Granulocytopenia Abnormality of the optic nerve Verrucae Hypercoagulability Chronic otitis media Gait disturbance Intracranial hemorrhage Lymphedema Hypotelorism Webbed neck Migraine Tapered finger Hematuria Nausea and vomiting Generalized hypotonia Intellectual disability, mild Metaphyseal widening Eczema Coxa vara Recurrent bacterial infections Nephrocalcinosis Short ribs Decreased liver function Abnormality of the metaphysis Apraxia Microdontia Delayed skeletal maturation Sepsis Generalized muscle weakness Ichthyosis Narrow chest Pectus carinatum Respiratory tract infection Skeletal dysplasia Osteopenia Ph-positive acute lymphoblastic leukemia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Retinal detachment, related diseases and genetic alterations Dysarthria and Ischemic stroke, related diseases and genetic alterations