In some cases electron microscopy reveals reduced numbers of platelet alpha granules and dysplastic features in platelets and megakaryocytes. ... Findings in some cases include reduced numbers of platelet alpha granules and dysplastic features in megakaryocytes and platelets. ... Genotype-Phenotype Correlations Table 2 outlines the relationship between specific GATA1 pathogenic variants and associated phenotypic features. Table 2. Genotype-Phenotype Correlations View in own window Pathogenic Variant 1 Platelet Phenotype 2 Platelet Aggregation Red Cell Phenotype Other Features References p.Val205Met ↓ Large Not studied ↓ Dyserythropoietic, fetal hydrops Cryptorchidism 3 Nichols et al [2000] p.Gly208Ser ↓ Large Decreased Normal Mehaffey et al [2001] 4, 5 p.Gly208Arg ↓↓ Large Not studied ↓ Dyserythropoietic Cryptorchidism in proband but also in 2 sibs w/wild type GATA1 3 Del Vecchio et al [2005], Kratz et al [2008] 4, 5 p.Arg216Gln ↓ Large Normal, but prolonged bleeding time Mild β-thalassemia, mild anemia Splenomegaly Thompson et al [1977], Raskind et al [2000], Yu et al [2002], Balduini et al [2004], Hughan et al [2005], Tubman et al [2007], Campbell et al [2013], Ǻström et al [2015] p.Arg216Trp ↓ Not reported Mild β-thalassemia Congenital erythropoietic porphyria, splenomegaly Hindmarsh [1986], Phillips et al [2007], Ged et al [2009], Campbell et al [2013] p.Asp218Gly ↓ Large Decreased Dyserythropoiesis without anemia Freson et al [2001], White [2007], White et al [2007] p.Asp218Tyr ↓↓ Large Not studied Severe anemia Platelets in carrier female expressed only wild type allele Freson et al [2002] p.Ter414ArgextTer42 ↓ Large Not studied Normal Lu(a-b-) red cells Singleton et al [2013] 332G>C Normal counts, but dysplastic megakaryocytes Decreased Macrocytic anemia of variable severity Neutropenia Hollanda et al [2006] p.Val74Leu Normal or ↓ Not studied Macrocytic anemia of variable severity Sankaran et al [2012] c.220+1delG Normal Not studied Anemia Sankaran et al [2012] c.220G>C Normal Not studied Macrocytic anemia Klar et al [2014] p.Met1_Cys83del ↓ Not studied Anemia Parrella et al [2014] 1. ... Because of its X-linked mode of inheritance and association with thrombocytopenia, Wiskott-Aldrich syndrome (WAS) can be confused with GATA1 -related cytopenia. Distinguishing features of WAS include small platelets, eczema (~80%), and immunodeficiency, although individuals with milder pathogenic variants may manifest with microthrombocytopenia only. ... Etiology and Characteristics of Other Inherited Syndromes of Macrothrombocytopenia View in own window Name Gene Mode of Inheritance Features Bernard-Soulier syndrome (OMIM 231200) GP1BA GP1BB GP9 AR 1 Severely defective ristocetin-induced platelet agglutination Severe bleeding disorder MYH9 -related syndromes MYH9 AD Neutrophil inclusions Hearing loss, cataract, or renal defects variably present Mediterranean thrombocytopenia (OMIM 153670) GP1BA AD Dysmegakaryo-cytopoiesis Paris-Trousseau thrombocytopenia (OMIM 188025) See footnote 2.

Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. Epidemiology The prevalence is unknown. At least 3 families have been described with thrombocytopenia with CDA and GATA1 mutations in the literature. Clinical description The disease affects mainly males as females are usually asymptomatic or have only mild symptoms. It presents in infancy or in neonates (in severe cases) with patients bruising easily along with further manifestations of thrombocytopenia including epistaxis, petechiae, ecchymoses, or splenomegaly. Anemia is often present but can range from mild to severe. Excessive hemorrhage and/or bruising can occur in some patients after trauma or spontaneously in others.

As the disease progresses, pulmonary function tests reveal typical features of a restrictive defect with reduced forced vital capacity (FVC) and elevated forced expiratory volume in FEV1/FVC. ... "Pulmonary alveolar microlithiasis: an overview of clinical and pathological features together with possible therapies". ... "High resolution computed tomographic features of pulmonary alveolar microlithiasis". ... "Pulmonary alveolar microlithiasis: clinical features, evolution of the phenotype, and review of the literature".

Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of a compound called calcium phosphate gradually accumulate in the small air sacs (alveoli) located throughout the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease) that leads to breathing problems. People with this disorder can develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Affected individuals may also experience chest pain that worsens when coughing, sneezing, or taking deep breaths. Pulmonary alveolar microlithiasis is usually diagnosed before age 40.

A rare genetic respiratory disease characterized by widespread intra-alveolar accumulation of minute calcium phosphate microliths, leading to pulmonary fibrosis, pulmonary hypertension, and chronic respiratory failure. Age of onset is highly variable, and most patients are asymptomatic for years or decades, before signs and symptoms like dyspnea on exertion, dry cough, chest pain, hemoptysis, or finger clubbing develop. The disease takes a long-term progressive course. Routine chest radiographs typically show a fine, ''sandstorm-like'' micronodular pattern that is more pronounced in the bases than in the apices.

Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasis may also develop calcium phosphate deposits in other organs and tissue of the body.

The overgrowth of bone in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves.

Adiposis dolorosa is a condition characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas. This condition occurs most often in women who are overweight or obese, and signs and symptoms typically appear between ages 35 and 50. In people with adiposis dolorosa, abnormal fatty tissue or lipomas can occur anywhere on the body but are most often found on the torso, buttocks, and upper parts of the arms and legs. Lipomas usually feel like firm bumps (nodules) under the skin. The growths cause burning or aching that can be severe, particularly if they are pressing on a nearby nerve. In some people, the pain comes and goes, while in others it is continuous.

A rare disorder of subcutaneous tissue characterized by the development of painful, adipose tissue with multiple subcutaneous lipomas, in association with overweight or obesity. Epidemiology Prevalence is unknown. It is 5-30 times more common in women. Clinical description The onset may be abrupt or indolent and most commonly occurs between 35 and 50 years of age. The main symptoms are obesity and painful adipose tissue. The most common locations for lipomas are the extremities, the trunk, the pelvic area, and the buttocks. The pain is often described as burning or aching but the pain experience varies between different individuals.

Adiposis dolorosa Other names Anders disease Adiposis dolorosa of the diffuse truncal form (Dercum), The anterior view shows the peculiar apron of fat and the small size of the hands. The posterior view shows the arrangement of fat in folds over the hips. Specialty Endocrinology Adiposis dolorosa , is an outdated term for many years used synonymously as Dercum's disease , lipedema or Anders disease. [1] While there are numerous references to Adiposis dolorosa, it is recommended that the term no longer be used. Dercum's is now recognized as a separate condition, as is lipedema. [2] [3] References [ edit ] ^ Herbst KL. Subcutaneous Adipose Tissue Diseases: Dercum Disease, Lipedema, Familial Multiple Lipomatosis and Madelung Disease.

Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigue, and memory disturbances. It usually occurs in adults, and women are more commonly affected than men. Adiposis dolorosa is chronic and tends to be progressive. The exact cause is unknown.

A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.

Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. Epidemiology It has been described in several members of an Australian and an Italian family. Clinical description The disease usually manifests during the third decade of life with thenar muscle weakness resulting in reduced grip strength. The disease is slowly progressive and generally proceeds with calf muscle weakness appearing during the fourth decade and proximal muscles becoming perceptibly affected in the fifth decade. The tibial anterior muscle is spared, so is respiratory function. Mild cardiomyopathy can sometimes be observed.

STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels. Epidemiology It has been reported in 3 siblings to date. Etiology STEAP3/TSAP6-related sideroblastic anemia is caused by a nonsense heterozygous mutation in the STEAP3/TSAP6 gene. Transmission is most likely recessive with a low expression allele.

Congenital neutropenia-myelofibrosis-nephromegaly syndrome is rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythima on EEG).

"Senile systemic amyloidosis: clinical features at presentation and outcome" .

Histopathologic examination shows varying degrees of lymphocytic inflammation, follicular degeneration, and fibrosis (Malki et al., 2019). Clinical Features Gathers and Lim (2009) reviewed published studies of CCCA, noting that it was first reported as 'hot comb alopecia' in 1968. ... Commonly reported histopathologic features included lymphocytic folliculitis, perifollicular granulomatous inflammation with hair shaft foreign body giant cells, prominent destruction of the folliculosebaceous units with scar tissue fibrosis at sites of former hair follicles, and retention of arrector pili muscles.

A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction.

A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis.

Otulipenia is characterized by abnormal inflammation throughout the body. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, the uncontrolled inflammation that occurs in otulipenia can damage many of the body's tissues and organs, including the gastrointestinal system, joints, and skin. Disorders such as otulipenia that result from abnormally increased inflammation are known as autoinflammatory diseases. Signs and symptoms of otulipenia usually begin within the first few weeks of life, with recurring episodes of fever; diarrhea; painful, swollen joints; and skin rashes.