Anemia, and Osteopenia

Diseases related with Anemia and Osteopenia

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


Top matches:

Medium 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

Medium match LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC


Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996).See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC ), an autosomal recessive disorder caused by mutation in the CTC1 gene (OMIM ) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012).

LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC Is also known as labrune syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity


SOURCES: OMIM MESH MENDELIAN

More info about LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC

Medium match PANCREATIC INSUFFICIENCY-ANEMIA-HYPEROSTOSIS SYNDROME


This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Splenomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PANCREATIC INSUFFICIENCY-ANEMIA-HYPEROSTOSIS SYNDROME

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Other less relevant matches:

Medium match SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Medium match CONGENITAL ERYTHROPOIETIC PORPHYRIA


Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.

CONGENITAL ERYTHROPOIETIC PORPHYRIA Is also known as cep|gÜnther disease

Related symptoms:

  • Splenomegaly
  • Immunodeficiency
  • Thrombocytopenia
  • Osteopenia
  • Abnormality of the foot


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL ERYTHROPOIETIC PORPHYRIA

Medium 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

Medium match MULTIPLE MYELOMA


Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).

MULTIPLE MYELOMA Is also known as plasma cell myeloma|myelomatosis|kahler's disease|medullary plasmacytoma

Related symptoms:

  • Neoplasm
  • Anemia
  • Fatigue
  • Splenomegaly
  • Weight loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE MYELOMA

Medium match PORPHYRIA, CONGENITAL ERYTHROPOIETIC


The porphyrias are diseases caused by defects in heme synthesis, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver (Gross et al., 2000).Desnick and Astrin (2002) provided a comprehensive review of congenital erythropoietic porphyria pathogenesis and treatment.One patient with a phenotype suggestive of congenital erythropoietic anemia was found to have a mutation in the GATA1 gene ({305371.0010}) that affected UROS expression (see XLTT, {314050}).

PORPHYRIA, CONGENITAL ERYTHROPOIETIC Is also known as cep|uros deficiency|uroporphyrinogen iii synthase deficiency|gunther disease

Related symptoms:

  • Short stature
  • Anemia
  • Splenomegaly
  • Thrombocytopenia
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORPHYRIA, CONGENITAL ERYTHROPOIETIC

Medium match ROTHMUND-THOMSON SYNDROME TYPE 2


Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2|rts2

Related symptoms:

  • Growth delay
  • Cataract
  • Anemia
  • Frontal bossing
  • Diarrhea


SOURCES: ORPHANET MENDELIAN

More info about ROTHMUND-THOMSON SYNDROME TYPE 2

Top 5 symptoms//phenotypes associated to Anemia and Osteopenia

Symptoms // Phenotype % cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cutaneous photosensitivity Global developmental delay Jaundice

Rare Symptoms - Less than 30% cases


Failure to thrive Abnormal pyramidal sign Hypertrichosis Abnormal blistering of the skin Hemolytic anemia Hypersplenism Hepatomegaly Bone pain Delayed skeletal maturation Absent eyebrow Hypopigmentation of the skin Anemia of inadequate production Pathologic fracture Frontal bossing Skin rash Vertebral compression fractures Hyperostosis Tremor Diarrhea Dysarthria Atypical scarring of skin Ataxia Seizures Osteoporosis Cholelithiasis Recurrent fractures Increased antibody level in blood Nephrotic syndrome Tall stature Venous thrombosis Hypercalcemia Pleural effusion Amyloidosis Colon cancer Hypogonadotrophic hypogonadism Abnormality of blood and blood-forming tissues Generalized muscle weakness Skin ulcer Acute kidney injury Spinal cord compression Decreased antibody level in blood Hypochromic microcytic anemia Polyneuropathy Weight loss Portal fibrosis Abnormal hemoglobin Hypochromic anemia Neoplasm of the pancreas Abnormality of iron homeostasis Reduced beta/alpha synthesis ratio Neoplasm Paresthesia Nephropathy Poikilocytosis Anisocytosis Abnormality of the skull Osteomalacia Microcytic anemia Lymphadenopathy Decreased mean corpuscular volume Reduced bone mineral density Abnormality of temperature regulation Abnormality of vitamin B12 metabolism Elevated serum creatinine Microdontia Erythrodontia Cataract Hypogonadism Skeletal dysplasia Nail dystrophy Hypotrichosis Nausea and vomiting Neutropenia Palmoplantar keratoderma Short thumb Red urine Hypoplasia of the radius Brittle hair Myelodysplasia Squamous cell carcinoma Basal cell carcinoma Prematurely aged appearance Absent eyelashes Osteosarcoma Poikiloderma Concave nasal ridge Pink urine Loss of eyelashes Multiple myeloma Plasmacytoma Prostate cancer Increased IgA level Abnormality of the bladder Increased IgG level Functional abnormality of the gastrointestinal tract Monoclonal immunoglobulin M proteinemia Postural instability Paraproteinemia Hyperproteinemia Short stature Corneal scarring Alopecia Scarring Hyperpigmentation of the skin Joint contracture of the hand Conjunctivitis Osteolysis Scleroderma Reticulocytosis Abnormality of the mouth Extramedullary hematopoiesis Hepatitis Ectropion Pallor Scaling skin Leukodystrophy Leukoencephalopathy Hemiplegia Loss of speech Abnormality of the vasculature Carious teeth Asthma Hyperbilirubinemia Abnormality of the coagulation cascade Abnormality of extrapyramidal motor function Malnutrition Steatorrhea Rhinitis Exocrine pancreatic insufficiency Allergic rhinitis Erythroid hyperplasia Calvarial hyperostosis Intellectual disability, mild Myoclonus Hemiparesis Cerebral calcification Abnormal cerebellum morphology Osteopetrosis Headache Pectus carinatum Pancytopenia Increased bone mineral density Rickets Agenesis of permanent teeth Thickened calvaria Premature loss of teeth Generalized osteosclerosis Gastrointestinal hemorrhage Intellectual disability Spasticity Gait disturbance Dystonia Mental deterioration Abnormality of the cerebral white matter Abnormality of movement Inability to walk Gliosis Ophthalmoplegia Generalized-onset seizure Irritability Nonimmune hydrops fetalis Anisopoikilocytosis Immunodeficiency Abnormality of the foot Abnormality of skin pigmentation Thickened skin Recurrent skin infections Abnormality of the hand Blepharitis Recurrent corneal erosions Profound global developmental delay Keratoconjunctivitis Abnormal urinary color Abnormality of the heme biosynthetic pathway Muscle weakness Feeding difficulties Fever Abnormality of the skeletal system Respiratory insufficiency Hypertrophic cardiomyopathy Spotty hypopigmentation Hypopigmented skin patches Spastic tetraparesis Talipes equinovarus Cachexia Loss of consciousness Erlenmeyer flask deformity of the femurs Elevated serum acid phosphatase Increased cerebral lipofuscin Microcephaly Abnormal facial shape Depressed nasal bridge Brachydactyly Anteverted nares Sparse and thin eyebrow Recurrent infections Severe short stature Proptosis High forehead Telecanthus Sparse hair Small for gestational age Talipes Short distal phalanx of finger Hypoplasia of teeth



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