Anemia, and Paraplegia

Diseases related with Anemia and Paraplegia

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


Top matches:

Low match EWING SARCOMA


Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Weight loss


SOURCES: OMIM ORPHANET MENDELIAN

More info about EWING SARCOMA

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 SITOSTEROLEMIA


Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.

SITOSTEROLEMIA Is also known as stsl|phytosterolemia

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Splenomegaly
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SITOSTEROLEMIA

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Other less relevant matches:

Low match AICARDI-GOUTIERES SYNDROME 6; AGS6


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Spasticity
  • Tremor


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

Low match HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN


Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Low match OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY


Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).

OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY Is also known as dominant optic atrophy plus syndrome|doa+

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14


Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14 Is also known as coxpd14

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14

Low match LEIGH SYNDROME WITH LEUKODYSTROPHY


LEIGH SYNDROME WITH LEUKODYSTROPHY Is also known as leigh disease with leukodystrophy|infantile subacute necrotizing encephalopathy with leukodystrophy

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about LEIGH SYNDROME WITH LEUKODYSTROPHY

Low match PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY


Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Low match VASCULITIS DUE TO ADA2 DEFICIENCY


Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

Related symptoms:

  • Ataxia
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about VASCULITIS DUE TO ADA2 DEFICIENCY

Top 5 symptoms//phenotypes associated to Anemia and Paraplegia

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Spastic paraplegia Uncommon - Between 30% and 50% cases
Optic atrophy Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hemolytic anemia Dystonia Spasticity Hyperreflexia Ataxia Nystagmus Pain Hearing impairment Peripheral neuropathy Splenomegaly Ophthalmoplegia Increased serum lactate Acidosis

Rare Symptoms - Less than 30% cases


Dilatation Dysarthria Hypoplasia of the corpus callosum Skin rash Hyperbilirubinemia Failure to thrive Ptosis Decreased activity of the pyruvate dehydrogenase complex Strabismus Arthritis Stomatocytosis Ragged-red muscle fibers Hypertonia Babinski sign Cerebral atrophy Leukocytosis Lactic acidosis Abnormality of the liver Abdominal pain Ventriculomegaly Progressive spastic paraplegia Visual loss Abnormality of eye movement Intellectual disability Fever Generalized hypotonia Leukodystrophy Encephalopathy Spinal cord compression Cerebellar atrophy Progressive neurologic deterioration Short stature Hepatomegaly Hepatosplenomegaly Focal T2 hyperintense basal ganglia lesion High palate Hypertelorism Epicanthus Increased CSF lactate Decreased activity of mitochondrial respiratory chain Thrombocytopenia Myoclonus Cerebral cortical atrophy Epileptic encephalopathy Emotional lability Mitochondrial encephalopathy Hypsarrhythmia Status epilepticus Gliosis Aminoaciduria Atrophy/Degeneration affecting the brainstem Diffuse cerebral atrophy Abnormality of the mitochondrion Generalized aminoaciduria Type 2 muscle fiber atrophy Generalized myoclonic seizures Epilepsia partialis continua Hypertrichosis Respiratory insufficiency EEG abnormality Muscular hypotonia Neuronal loss in central nervous system Intellectual disability, severe Hypertrophic cardiomyopathy Apnea Abnormality of movement Progressive cerebellar ataxia Pigmentary retinopathy Ventricular septal defect Metabolic acidosis Respiratory distress Agitation Papule Lymphadenopathy Decreased antibody level in blood Pancytopenia Hemiparesis Foot dorsiflexor weakness Vasculitis Purpura Leukopenia Ischemic stroke Hemiplegia Cutis marmorata Cerebral hemorrhage Combined immunodeficiency Myalgia Aphasia Elevated erythrocyte sedimentation rate Thrombocytosis Raynaud phenomenon Hypercoagulability Immune dysregulation Granulocytopenia Erythema nodosum Antiphospholipid antibody positivity Panniculitis Pure red cell aplasia Lupus anticoagulant Retinal arterial occlusion Stroke Elevated hepatic transaminase Vomiting Spastic diplegia Pectus excavatum Agenesis of corpus callosum Thin upper lip vermilion Neonatal hypotonia Muscular hypotonia of the trunk Severe global developmental delay Unsteady gait Visual impairment Coma Spastic tetraplegia Tetraparesis Broad-based gait Trigonocephaly Partial agenesis of the corpus callosum Headache Difficulty running Lipoma Poor coordination Corpus callosum atrophy Severe lactic acidosis Poor fine motor coordination Increased serum pyruvate Hyperalaninemia Periventricular cysts Subependymal cysts Projectile vomiting Poor gross motor coordination Hypertension Immunodeficiency Wide nasal bridge Neoplasm Delayed speech and language development Macrothrombocytopenia Arthralgia Abnormal bleeding Abnormality of the cardiovascular system Atherosclerosis Hypercholesterolemia Coronary artery atherosclerosis Reticulocytosis Xanthomatosis Impaired platelet aggregation Hypersplenism Increased mean platelet volume Xanthelasma Diastasis recti Giant platelets Premature coronary artery atherosclerosis Chronic hemolytic anemia Accelerated atherosclerosis Abnormality of the integument Episodic hemolytic anemia Tuberous xanthoma Hyperapobetalipoproteinemia Tremor Rigidity Abnormality of the nervous system Facial hyperostosis Hiatus hernia Falls Burkitt lymphoma Weight loss Paralysis Leukemia Lymphoma Sarcoma Pleural effusion Myeloid leukemia Neuroblastoma Acute lymphoblastic leukemia Meningioma Chronic myelogenous leukemia Primitive neuroectodermal tumor Gingival bleeding Ewing sarcoma Peripheral neuroepithelioma Neoplasm of the peripheral nervous system Hernia Proptosis Umbilical hernia Facial asymmetry Hemangioma Increased intracranial pressure Elevated alkaline phosphatase Precocious puberty Developmental regression Cerebral calcification Feeding difficulties Abnormal electroretinogram Dysphagia Myopathy Areflexia Pes cavus Hypogonadism Reduced visual acuity Autistic behavior Muscle cramps Progressive visual loss Horizontal nystagmus External ophthalmoplegia Increased variability in muscle fiber diameter Cognitive impairment Progressive sensorineural hearing impairment Macrocytic anemia Central scotoma Progressive external ophthalmoplegia Episodic ataxia Abnormal auditory evoked potentials Red-green dyschromatopsia Tritanomaly Centrocecal scotoma Abnormal amplitude of pattern reversal visual evoked potentials Growth delay Gait disturbance Muscle weakness Frequent falls Brachydactyly Lower limb spasticity Clonus Toe walking Ankle clonus Freckling Loss of speech Generalized dystonia Moderate global developmental delay Loss of ability to walk Limb tremor Cataract Macrocephaly Sensorineural hearing impairment Hydrocephalus Absent speech Macrotia Jaundice Inability to walk Delayed myelination Hyperkalemia Broad neck Conjugated hyperbilirubinemia Hemoglobinuria Zonular cataract Hypoglycorrhachia Central retinal artery occlusion



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Choanal atresia, related diseases and genetic alterations Wide nasal bridge and Mandibular prognathia, related diseases and genetic alterations Macrocephaly and Hypertonia, related diseases and genetic alterations Macrocephaly and Optic atrophy, related diseases and genetic alterations Peripheral neuropathy and Headache, related diseases and genetic alterations

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Mendelian tool does not provide medical advice. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. It does not diagnose, it produces a ranked list of suspected genes which provide assistance for rare hereditary disease cases. Patients should discuss their findings with their healthcare provider
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