Anemia, and Osteoporosis

Diseases related with Anemia and Osteoporosis

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


Top matches:

Low match OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3


Autosomal dominant osteopetrosis-3 is characterized by phenotypic variability. Some patients have typical features of osteopetrosis, including fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density, whereas other patients exhibit localized osteosclerosis and generalized osteopenia. OPTA3 represents a relatively malignant form of osteopetrosis in some patients who develop significant pancytopenia and hepatosplenomegaly (Bo et al., 2016).For a discussion of genetic heterogeneity of autosomal dominant osteopetrosis, see OPTA1 (OMIM ).

Related symptoms:

  • Anemia
  • Fatigue
  • Headache
  • Osteoporosis
  • Osteopenia


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3

Low match JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE


Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.

JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE Is also known as epidermolysis bullosa letalis|junctional epidermolysis bullosa, herlitz type|junctional epidermolysis bullosa, herlitz-pearson type|jeb-herlitz type|jeb-h|epidermolysis bullosa junctionalis, herlitz type|epidermolysis bullosa, junctional, herlitz-pearson

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Respiratory insufficiency
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE

Low match NIEMANN-PICK DISEASE TYPE A


Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.

NIEMANN-PICK DISEASE TYPE A Is also known as sphingomyelinase deficiency|sphingomyelin lipidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE TYPE A

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Other less relevant matches:

Low match BETA-THALASSEMIA


Beta-thalassemia is characterized by a reduced production of hemoglobin A (HbA, alpha-2/beta-2), which results from the reduced synthesis of beta-globin chains relative to alpha-globin chains, thus causing an imbalance in globin chain production and hence abnormal erythropoiesis. The disorder is clinically heterogeneous (summary by Ottolenghi et al., 1975).Absence of beta globin causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. For clinical purposes, beta-thalassemia is divided into thalassemia major (transfusion dependent), thalassemia intermedia (of intermediate severity), and thalassemia minor (asymptomatic, carrier state). The molecular and clinical aspects of the beta-thalassemias were reviewed by Olivieri (1999).The remarkable phenotypic diversity of the beta-thalassemias reflects the heterogeneity of mutations at the HBB locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors (Weatherall, 2001).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Anemia
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about BETA-THALASSEMIA

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2


Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, pulmonary and liver fibrosis, and premature graying of the hair (summary by Armanios et al., 2005).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2

Low match MASTOCYTOSIS, CUTANEOUS; MASTC


Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).

MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous|mastocytosis, diffuse cutaneous|urticaria pigmentosa

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASTOCYTOSIS, CUTANEOUS; MASTC

Low match SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA


Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type|severe generalized rdeb|dystrophic epidermolysis bullosa, autosomal recessive|rdeb generalisata gravis|epidermolysis bullosa dystrophica, hallopeau-siemens type|rdeb-sev gen|autosomal recessive dystrophic epidermolysis bullosa

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

Low match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

Low match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3


Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

Low match DIAMOND-BLACKFAN ANEMIA 7; DBA7


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 7; DBA7

Top 5 symptoms//phenotypes associated to Anemia and Osteoporosis

Symptoms // Phenotype % cases
Osteopenia Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Osteoporosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Fatigue Esophageal stricture Nail dysplasia Dilated cardiomyopathy Thrombocytopenia Neoplasm Alopecia Nail dystrophy Hepatosplenomegaly Short stature Abnormal blistering of the skin Bone marrow hypocellularity Diarrhea Global developmental delay Leukopenia Cardiomyopathy

Rare Symptoms - Less than 30% cases


Abnormality of skin pigmentation Hyperpigmentation of the skin Constipation Intrauterine growth retardation Cerebellar hypoplasia Cirrhosis Jaundice Pruritus Ascites Irritability Lymphadenopathy Microcytic anemia Aplastic anemia Arthralgia Hearing impairment Abdominal pain Hypogonadotrophic hypogonadism Hepatic fibrosis Ataxia Hypertension Pulmonary fibrosis Pain Premature graying of hair Aseptic necrosis Reticulated skin pigmentation Hepatitis Recurrent infections Osteomalacia Arrhythmia Muscle weakness Microcephaly Portal hypertension Atrophic scars Carcinoma Narrow mouth Generalized osteosclerosis Feeding difficulties Hypoplasia of dental enamel Ankyloglossia Squamous cell carcinoma of the skin Respiratory insufficiency Pancytopenia Recurrent fractures Telangiectasia Carious teeth Syndactyly Gastrointestinal hemorrhage Headache Mitten deformity Milia Congestive heart failure Hypogonadism Dysphagia Scarring Diabetes mellitus Visual loss Flexion contracture Elevated hepatic transaminase Cataract Telangiectasia macularis eruptiva perstans Arthritis Chronic leukemia Abnormality of the liver Toe syndactyly Blepharitis Delayed puberty Abnormality of the anus Atypical scarring of skin Skin vesicle Corneal erosion Corneal scarring Malnutrition Squamous cell carcinoma Scarring alopecia of scalp Absent toenail Ectropion Hypoalbuminemia Progressive visual loss Absent fingernail Refractory anemia Loss of eyelashes Dermal atrophy Esophageal stenosis Spontaneous esophageal perforation Neoplasm of the skin Fragile skin Joint contracture of the hand Conjunctivitis Testicular atrophy Hepatic failure Recurrent otitis media Interstitial pulmonary abnormality Hodgkin lymphoma Oral leukoplakia Phimosis Pulmonary hemorrhage Scoliosis Cleft palate Ventricular septal defect Patent ductus arteriosus Polyhydramnios Neutropenia Vesicoureteral reflux Tetralogy of Fallot Choanal atresia Abnormal intestine morphology Short thumb Horseshoe kidney Atresia of the external auditory canal Triphalangeal thumb Macrocytic anemia Sprengel anomaly Recurrent lower respiratory tract infections Esophagitis Increased mean corpuscular volume Secundum atrial septal defect Reticulocytopenia Fetal distress Vitamin D deficiency Small hypothenar eminence Epiphora Abnormal lung morphology Hepatic steatosis Restrictive cardiomyopathy Amenorrhea Cardiomegaly Insulin resistance Azoospermia Pleural effusion Impotence Abnormal joint morphology Arthropathy Pericarditis Hepatocellular carcinoma Increased serum ferritin Increased reactive oxygen species production Acute hepatic failure Neoplasm of the liver Cutaneous mastocytosis Fine hair Alcoholism Abnormal glucose tolerance Microvesicular hepatic steatosis Increased serum iron Cholangiocarcinoma Constrictive pericarditis Aceruloplasminemia Elevated transferrin saturation Cryptorchidism Delayed speech and language development Retinopathy Dry skin Lymphoma Cerebral calcification Anaphylactic shock Nausea and vomiting Dermatographic urticaria Cherry red spot of the macula Areflexia Hyporeflexia Recurrent respiratory infections Rigidity Feeding difficulties in infancy Respiratory tract infection Sleep disturbance Athetosis Prolonged neonatal jaundice Protuberant abdomen Xanthomatosis Bone-marrow foam cells Spasticity Sea-blue histiocytosis Diffuse reticular or finely nodular infiltrations Foam cells with lamellar inclusion bodies Fever Abnormality of the skeletal system Delayed skeletal maturation Hypertrophic cardiomyopathy Pallor Postural instability Skin ulcer Venous thrombosis Vomiting Muscular hypotonia Cholelithiasis Sepsis Pectus carinatum Increased bone mineral density Rickets Hyperostosis Agenesis of permanent teeth Thickened calvaria Premature loss of teeth Osteopetrosis Respiratory failure Dyspnea Hypotrichosis Dehydration Generalized hypotonia Hoarse voice Recurrent skin infections Pyloric stenosis Aplasia cutis congenita Onycholysis Skin erosion Laryngeal stenosis Paronychia Laryngeal stridor Congenital localized absence of skin Junctional split Intellectual disability Reduced bone mineral density Abnormality of the skull Mastocytosis Abnormality of blood and blood-forming tissues Tachycardia Sudden cardiac death Asthma Hypotension Bone pain Osteolysis Shock Sarcoma Urticaria Loss of consciousness Hypermelanotic macule Acute leukemia Ichthyosis Flushing Allergy Myeloproliferative disorder Hypersplenism Gastrointestinal stroma tumor Immunologic hypersensitivity Asthenia Impaired temperature sensation Abnormal eosinophil morphology Food intolerance Abnormality of the gastric mucosa Nausea Malabsorption Anisocytosis Hyperkeratosis Anemia of inadequate production Poikilocytosis Hypochromic microcytic anemia Decreased mean corpuscular volume Portal fibrosis Abnormal hemoglobin Hypochromic anemia Abnormality of temperature regulation Abnormality of iron homeostasis Reduced beta/alpha synthesis ratio Abnormality of the dentition Chronic diarrhea Papule Palmoplantar hyperkeratosis Pulmonary infiltrates Toenail dysplasia Urethral stricture Ridged fingernail Edema Weight loss Gastroesophageal reflux Myalgia Erythema Skin rash Leukemia Uterine neoplasm



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