TaoMedAI/RareMedData huggingface dataset:
Hemifacial hyperplasia (ORPHA:141145)
Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.
Hemifacial myohyperplasia (ORPHA:141148)
Hemifacial myohyperplasia is a rare developmental defect during embryogenesis characterized by unilateral hyperplasia of the facial musculature with no evidence of hyperplasia of bone or other organ systems. It clinically present with dimpling of the skin, ptosis, enophthalmos, narrow palpebral fissure, auricular displacement, smaller nasal vestibule, and nasal and chin deviation on the affected side. Facial paresis of the affected side and mild ipsilateral hypoplasia of the facial skeleton might be present.
Hemifacial spasm (ORPHA:221083)
A rare primary myoclonus characterized by progressive, involuntary, irregular, clonic or tonic contractions of the muscles innervated by the facial nerve (cranial nerve VII). The symptoms are typically strictly unilateral, mostly persist during sleep, and often occur in the region of the orbicularis oculi muscle first and gradually spread to other parts of the affected half of the face as the disease progresses. Both familial and acquired forms are reported.
Hemihyperplasia-multiple lipomatosis syndrome (ORPHA:276280)
Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.
Hemimegalencephaly (ORPHA:99802)
Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy.
Hemiparkinsonism-hemiatrophy syndrome (ORPHA:306669)
Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral, hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantar responses are frequently associated.
Hemoglobin C disease (ORPHA:2132)
Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).
Hemoglobin C-beta-thalassemia syndrome (ORPHA:231242)
Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia.
Epidemiology
Prevalence of this form is not known but it is predominant in African populations.
Clinical description
Patients are usually asymptomatic and diagnosed during routine tests. When present, clinical manifestations are moderate anemia and splenomegaly. Blood transfusions are rarely needed.
Etiology
HbC - BT patients are compound heterozygotes for hemoglobin C and beta-thalassemia.
Diagnostic methods
Hematological findings always reveal microcytosis and hypochromia. Blood smear shows distinctive HbC crystals with straight parallel edges, target cells, and irregularly contracted cells with features of thalassemia such as microcytosis.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Pr Renzo GALANELLO  - Dr Raffaella ORIGA
Hemoglobin D disease (ORPHA:90039)
Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).
Hemoglobin E disease (ORPHA:2133)
Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.
Hemoglobin E-beta-thalassemia syndrome (ORPHA:231249)
Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms).
Epidemiology
Prevalence of this form is not known but HbE - beta-thalassemia is predominant in Southeast Asia.
Clinical description
Mild HbE - BT (about 15% of cases) is characterized by normal Hb levels (9-12 g/dl) and patients usually do not develop clinically significant symptoms. No treatment is required. Moderately severe forms (most cases) are characterized by decreased Hb levels (6-8 g/dl) and the clinical manifestations are similar to those of beta-thalassemia intermedia. Transfusions are not required unless infections precipitate further anemia. Iron overload may occur. Severe forms are characterized by very low Hb levels (4-5 g/dl) and patients present with manifestations similar to beta-thalassemia major and are treated as thalassemia major patients.
Genetic counseling
HbE - BT patients are compound heterozygotes for hemoglobin E and beta-thalassemia.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Pr Renzo GALANELLO  - Dr Raffaella ORIGA
Hemoglobin Lepore-beta-thalassemia syndrome (ORPHA:330032)
A rare beta-thalassemia associated with another hemoglobin anomaly characterized by the presence of the hemoglobin Lepore variant in association with beta-thalassemia. Clinical presentation is highly variable, depending on the type of beta-thalassemia, and ranges from severe hypochromic microcytic anemia and complete transfusion dependency to moderate, compensated anemia without a need for regular blood transfusions.
Hemoglobin M disease (ORPHA:330041)
A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.
Hemoglobinopathy Toms River (ORPHA:280615)
Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.
Hemolytic anemia due to adenylate kinase deficiency (ORPHA:86817)
Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction (ORPHA:99138)
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.
Hemolytic anemia due to glucophosphate isomerase deficiency (ORPHA:712)
A rare hemolytic anemia due to a defect of the glycolytic enzyme glucose 6-phosphate isomerase (GPI) characterized by chronic nonspherocytic hemolytic anemia and, rarely, neurological impairment.
Epidemiology
Prevalence is unknown. Around 100 cases have been described in the literature so far. GPI deficiency is the second most frequent glycolytic erythroenzymopathy after pyruvate kinase deficiency. Both sexes are equally affected.
Clinical description
GPI deficiency is characterized by splenomegaly and chronic hemolytic anemia of variable degree, from mild to severe, with episodes of crises triggered by viral or bacterial infections. In rare cases, additional manifestations have been observed, including a variable degree of intellectual deficit, hypotonia, muscle weakness, ataxia and dysarthria. In very rare cases, severe GPI deficiency may be associated with hydrops fetalis and neonatal death.
Etiology
GPI deficiency is caused by homozygous or compound heterozygous mutations in the GPI gene (19q13.1). More than 50 different GPI molecular variants have been identified in affected individuals. GPI is a ubiquitous enzyme that catalyses the conversion glucose-6-phosphate into fructose-6-phosphate, the second step in the glycolytic pathway.
Diagnostic methods
Diagnosis is based on the demonstration of a reduced erythrocytic GPI activity and the identification of one homozygote, or two compound heterozygote pathogenic variants in the GPI gene.
Differential diagnosis
The differential diagnosis should include other causes of chronic hereditary hemolytic anemia.
Antenatal diagnosis
Antenatal diagnosis is possible where the pathogenic variant has previously been identified in a family member.
Genetic counseling
Transmission is autosomal recessive. Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them that there is a 25% risk of having an affected child at each pregnancy.
Management and treatment
Transfusion support may be required for patients with severe anemia. Splenectomy doesn't cure anemia but reduce the transfusion need, and may increase hemoglobin levels. Indication to splenectomy is based on the severity of clinical presentation.
Prognosis
The prognosis is variable depending on the severity of the anemia and on the presence of neurological manifestations.

                            Last update: 
                            July 2024


                            - Expert reviewer(s): 
                            Dr Paola BIANCHI | EuroBloodNet*


                                * European Reference Network
Hemolytic anemia due to glutathione reductase deficiency (ORPHA:90030)
Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes.
Epidemiology
It has been described in three children (one male and two females) born to consanguineous parents.
Clinical description
Both parents had intermediate levels of GSR activity. One child presented with favism and two with cataracts.
Differential diagnosis
This disease should be distinguished from glutathione reductase deficiency secondary to dietary riboflavin deficiency and from the acute pharmacologic phenocopy induced by carmustine (BCNU).
Genetic counseling
Transmission is autosomal recessive.
Management and treatment
GSR activity is not restored by riboflavin in vivo or by FAD in vitro.

                            Last update: 
                            December 2007
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency (ORPHA:35120)
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.
Hemolytic disease of the newborn with Kell alloimmunization (ORPHA:275944)
A rare hematologic disease characterized by the transfer of maternal alloantibodies against red blood cell antigens of the Kell family to a fetus positive for this antigen across the placental barrier, causing suppression of erythropoiesis with reticulocytopenia and anemia, as well as alloimmune hemolysis. Severe anemia may lead to hydrops fetalis. Significant hyperbilirubinemia is rare in this condition.
Hemolytic uremic syndrome with DGKE deficiency (ORPHA:357008)
A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria, and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age.
Hemophagocytic syndrome (ORPHA:158032)
Hemophagocytic syndrome (HPS) is a rare immune disease (see this term) and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis ; see this term), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis) (see these termes).
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation (ORPHA:178396)
A rare, genetic, constitutional coagulation factor defect disorder characterized by a bleeding tendancy of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous hematomas, hematomas following minor trauma or surgery and, in female patients, ovarian hematomas after ovulation.
Hemorrhagic fever-renal syndrome (ORPHA:340)
A rare rodent-borne, potentially severe, hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.
Hendra virus infection (ORPHA:324632)
Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.
Hennekam syndrome (ORPHA:2136)
A rare syndromic lymphedema characterized by the association of primary lymphedema, intestinal lymphangiectasia, intellectual deficit and unusual facial characteristics.
Epidemiology
The exact prevalence is unknown but around 100 cases have been reported in the literature. The entity occurs in all ethnic groups.
Clinical description
The lymphedema has invariably been present at birth, and is mainly present in the lower limbs and genitalia, although it can also be present elsewhere, including ascites. Lymphangiectasia is common in the intestines but can also be present in lungs, pericardium, thyroid and kidneys. The degree of intellectual deficit is highly variable, even within a single family. Facial characteristics are a flat face, a broad and depressed nasal bridge, hypertelorism, epicanthi, a small mouth, and low-set ears with a narrow meatus. Other features include mild growth retardation, delayed puberty, tooth anomalies, gingival hypertrophy, seizures, and blood vessel anomalies.
Etiology
The syndrome can be caused by bi-allelic variants in CCBE1 (18q21.32), FAT4 (4q28.1) or ADAMTS3 (4q13.3).
Diagnostic methods
The diagnosis is based on the clinical phenotype. Intestinal lymphangiectasia may be suspected because of hypogammaglobulinemia, hypoalbuminemia, and lymphopenia, but a definitive diagnosis can only be made by biopsies (often several are needed). Molecular studies may confirm the clinical diagnosis.
Differential diagnosis
The differential diagnosis includes other entities associated with congenital lymphedema such as Noonan syndrome, Milroy syndrome and cholestasis-lymphedema syndrome, and Van Maldergem syndrome.
Antenatal diagnosis
Prenatal genetic testing is possible in families with known mutations.
Genetic counseling
The syndrome is transmitted as an autosomal recessive trait and genetic counseling is recommended.
Management and treatment
There is no curative therapy, only supportive management including decongestive therapy for edema control, typically needing lymphologists. Rarely surgery is performed. Medium-chain triglyceride-rich diet is usually helpful because of the intestinal lymphangiectasias but recurrent albumin infusions are not uncommon. Vitamin and electrolyte supplements should be considered. Pulmonary lymphangiectasia may need temporary artificial ventilation (positive end-expiratory pressure). Penicillin prophylaxis may be needed to prevent erysipelas.
Prognosis
The signs and symptoms vary widely among affected individuals and even those within the same family. The course of the lymphedema may vary considerably within a person, for instance by hormonal influences, but often for unknown reasons. Life expectancy depends on the severity of manifestations, and may lead to early death.

                            Last update: 
                            July 2020


                            - Expert reviewer(s): 
                            Pr Raoul HENNEKAM | ITHACA*


                                * European Reference Network
Hennekam-Beemer syndrome (ORPHA:2135)
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.
Hepatic cystic hamartoma (ORPHA:386)
Hepatic cystic hamartoma, also named Mesenchyma hamartoma of liver, is a rare benign liver tumor of childhood, usually before the age of 2, of mesenchymal origin and variable clinical presentation (abdominal dissension, abdominal mass, pain, vomiting and signs of inferior vena cava compression).
Hepatic fibrosis-renal cysts-intellectual disability syndrome (ORPHA:2031)
Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.
Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
A rare syndrome with combined immunodeficiency characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.
Hepatitis B reinfection following liver transplantation (ORPHA:90073)
A rare hepatic disease characterized by graft infection with the hepatitis B virus (HBV) after liver transplantation, due to persistence and reactivation of HBV in extrahepatic sites (also despite previous clearance of the HBs antigen from serum, as shown by laboratory examination), followed by re-invasion of the graft. It may develop between two weeks and several years post transplantation. Clinico-pathological features are variable and range from mild self-limited hepatitis, chronic active hepatitis, and fulminant hepatitis, to fibrosing cholestatic hepatitis. The condition is associated with significantly reduced graft survival rates and overall patient survival.
Hepatitis delta (ORPHA:402823)
Hepatitis delta is a rare hepatic disease characterized by variable degrees of acute hepatitis resulting from infection with the hepatitis delta virus. Occasionally it may present a benign course, but most frequently it manifests with severe liver disease that may include fulminant liver failure, hepatic decompensation and rapid progression to cirrhosis. All patients present concomitant hepatitis B virus infection and an increased risk of developing hepatocellular carcinoma has been reported.
Hepatocellular carcinoma (ORPHA:88673)
Hepatocellular carcinoma is a primary hepatic cancer derived from well-differentiated hepatocytes. It is more frequent in adults than in childhood. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (ORPHA:137681)
A rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.