Anemia, and Proptosis

Diseases related with Anemia and Proptosis

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


Top matches:

Low match PRIMARY INTRAOSSEOUS VENOUS MALFORMATION


Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.

PRIMARY INTRAOSSEOUS VENOUS MALFORMATION Is also known as vmos|vascular malformation osseous|osseous venous malformation|intraosseous hemangioma|hemangioma, intraosseous

Related symptoms:

  • Anemia
  • Hernia
  • Visual loss
  • Proptosis
  • Umbilical hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PRIMARY INTRAOSSEOUS VENOUS MALFORMATION

Low match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE III


Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE III Is also known as anemia with multinucleated erythroblasts|erythroreticulosis, hereditary benign|congenital dyserythropoietic anemia type 3|cda type 3|dyserythropoietic anemia, congenital, type iii|cda iii|cda type iii

Related symptoms:

  • Short stature
  • Neoplasm
  • Anemia
  • Fatigue
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE III

Low 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

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Other less relevant matches:

Low match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5


Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (Quarello et al., 2004).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 Is also known as osteopetrosis, infantile malignant 3

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5

Low match TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Low match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Low match ISOLATED SEDOHEPTULOKINASE DEFICIENCY


SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

Low match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Low match PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Low match WALDENSTRÖM MACROGLOBULINEMIA


Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

Top 5 symptoms//phenotypes associated to Anemia and Proptosis

Symptoms // Phenotype % cases
Hearing impairment Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Frontal bossing Recurrent infections High forehead Visual impairment Hydrocephalus Splenomegaly Macrocephaly Headache Blindness Neoplasm Gingival bleeding Visual loss Increased intracranial pressure Short stature Microcephaly Intellectual disability Hepatosplenomegaly Hepatomegaly

Rare Symptoms - Less than 30% cases


Fever Congestive heart failure Urticaria Osteopetrosis Arnold-Chiari malformation Purpura Increased bone mineral density Leukemia Postural instability Vasculitis Sensorineural hearing impairment Lymphoma Migraine Lymphadenopathy Skin rash Abnormality of skin pigmentation Craniosynostosis Skeletal dysplasia Ventriculomegaly Short distal phalanx of finger Anorexia Weight loss Diastasis recti Pallor Anemia of inadequate production Abnormality of neutrophils Inflammatory abnormality of the eye Diarrhea Renal insufficiency Pain Uveitis Elevated erythrocyte sedimentation rate Malar flattening Steatorrhea Glioblastoma multiforme Ocular pain Vitreous hemorrhage Anisocoria Retinoblastoma Leiomyosarcoma Soft tissue sarcoma Leukocoria Malar rash Histiocytoma Fibrosarcoma Ewing sarcoma Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Pineal cyst Hyphema Burkitt lymphoma Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Hyperglycemia Buphthalmos Vitritis Shallow orbits Hypochromic microcytic anemia Severe postnatal growth retardation Cellulitis Glaucoma Carcinoma Vomiting Cataract Cleft palate Strabismus Nystagmus Micrognathia Sarcoma Myelodysplasia Increased urinary sedoheptulose Neurofibromas Acute myeloid leukemia Astrocytoma Abnormality of globe location Chromosome breakage Neonatal asphyxia Abnormal CNS myelination Postprandial hyperglycemia Hypochromic anemia Subcortical cerebral atrophy Osteosarcoma Abnormality of the renal tubule Cholestatic liver disease Recurrent hypoglycemia Breech presentation Acute monocytic leukemia Scoliosis Hypoplasia of the maxilla Cognitive impairment Persistent open anterior fontanelle Malabsorption Stroke Autoimmunity Respiratory insufficiency Peripheral neuropathy Ataxia Abnormal pelvis bone ossification Osteolytic defects of the distal phalanges of the hand Polyneuropathy Spondylolysis Snoring Absent frontal sinuses Delayed eruption of primary teeth Delayed eruption of permanent teeth Persistence of primary teeth Abnormal pattern of respiration Low back pain Vertigo Gastrointestinal hemorrhage Ridged nail Abnormality of the retinal vasculature Cryoglobulinemia Impaired lymphocyte transformation with phytohemagglutinin Monoclonal immunoglobulin M proteinemia Multifocal epileptiform discharges Retinal hemorrhage Normocytic anemia Periorbital edema Reduced consciousness/confusion Lymphoproliferative disorder Memory impairment Hypercoagulability Edema of the lower limbs Raynaud phenomenon Pulmonary infiltrates Cutis marmorata Pleural effusion Cranial nerve paralysis Epistaxis Small face Spondylolisthesis Abnormality of the skeletal system Carious teeth Blue sclerae Abnormality of the skin Growth hormone deficiency Prominent nose Adducted thumb Hypodontia Recurrent fractures Delayed eruption of teeth Narrow chest Abnormality of the face Hyperlordosis Apnea Brachycephaly Osteoporosis Prominent forehead Midface retrusion Kyphosis Abnormality of the dentition Small nail Abnormality of epiphysis morphology Osteolytic defects of the phalanges of the hand Increased susceptibility to fractures Abnormality of the clavicle Abnormality of the vertebral column Agenesis of permanent teeth Prominent occiput Osteomyelitis Abnormality of dental morphology Abnormality of the thorax Back pain Abnormality of pelvic girdle bone morphology Abnormal vertebral morphology Sleep apnea Osteolysis Abnormality of the fingernails Narrow palate Wormian bones Abnormality of the nail Short toe Bone pain Portal hypertension Juvenile rheumatoid arthritis Chronic diarrhea Failure to thrive Muscular hypotonia of the trunk Thrombocytopenia Abnormality of metabolism/homeostasis Cerebral atrophy Hypertonia Optic atrophy Generalized hypotonia Irritability Anisopoikilocytosis Spotty hypopigmentation Profound global developmental delay Hypopigmented skin patches Sparse and thin eyebrow Hypopigmentation of the skin Talipes Facial palsy Hepatic failure Sparse hair Decreased osteoclast count Clinodactyly Abnormality of cardiovascular system morphology Respiratory distress Ventricular septal defect Intrauterine growth retardation Cryptorchidism Muscle weakness Absence of renal corticomedullary differentiation Brain atrophy Cranial hyperostosis Extramedullary hematopoiesis Generalized osteosclerosis Arnold-Chiari type I malformation Severe vision loss Pathologic fracture Bone marrow hypocellularity Small for gestational age Telecanthus Arrhythmia Facial hyperostosis Macrocytic anemia Hyperbilirubinemia Heterotopia Hemolytic anemia Elevated hepatic transaminase Jaundice Spinal cord compression Increased mean corpuscular volume Hiatus hernia Precocious puberty Elevated alkaline phosphatase Hemangioma Paraplegia Facial asymmetry Umbilical hernia Anisocytosis Multiple myeloma Osteopenia Increased total iron binding capacity Severe short stature Anteverted nares Talipes equinovarus Depressed nasal bridge Hemosiderinuria Abnormal erythroid lineage cell morphology Abnormal proerythroblast morphology Oral cavity bleeding Poikilocytosis Post-partum hemorrhage Abnormal cellular phenotype Abnormal erythrocyte morphology Increased serum iron Erythroid hyperplasia Congenital hypoplastic anemia Melena Patent ductus arteriosus Abnormal heart morphology Large fontanelles Reduced bone mineral density Hernia Amyloidosis Arthropathy Abnormal joint morphology Progressive sensorineural hearing impairment Leukocytosis Joint dislocation Delayed closure of the anterior fontanelle Meningitis Overgrowth Premature birth Nausea and vomiting Papule Arthritis Myalgia Abnormal thrombocyte morphology Elevated C-reactive protein level Arthralgia Narrow mouth Cholestasis Hypotelorism Hepatitis Hip dysplasia Short foot Arthrogryposis multiplex congenita Prominent nasal bridge Inguinal hernia Pseudopapilledema Immunodeficiency Feeding difficulties Flexion contracture Low-set ears Ptosis Abnormal granulocyte morphology Retrobulbar optic neuritis EEG abnormality Edema Clinodactyly of the 5th finger Thin vermilion border Increased body weight Sinusitis Hemiparesis Ventricular hypertrophy Tetralogy of Fallot Cyanosis Pulmonic stenosis Clubbing Dolichocephaly Broad forehead Abnormal cardiac septum morphology Paralysis Respiratory tract infection Dyspnea Recurrent respiratory infections Easy fatigability Heart murmur Absence of the pulmonary valve Breathing dysregulation Tetralogy of Fallot with absent pulmonary valve Pulmonary valve atresia Overriding aorta Endocarditis Abnormal nasal morphology Right ventricular failure Interrupted aortic arch Pulmonary artery atresia Preauricular pit Right ventricular hypertrophy Truncus arteriosus Double outlet right ventricle Hyperventilation Poor appetite Underdeveloped supraorbital ridges Polycythemia Polyclonal elevation of IgM



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Joint hypermobility, related diseases and genetic alterations Brachydactyly and Distal sensory impairment, related diseases and genetic alterations Ptosis and Microdontia, related diseases and genetic alterations Ptosis and Anorexia, related diseases and genetic alterations Ptosis and Fatigue, related diseases and genetic alterations Peripheral neuropathy and Parkinsonism, related diseases and genetic alterations

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