Anemia, and Abnormal pyramidal sign

Diseases related with Anemia and Abnormal pyramidal sign

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


Top matches:

Low match X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA


X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia (see this term) characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.

X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA Is also known as x-linked sideroblastic anemia with ataxia|xlsa-a|pagon-bird-detter syndrome

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA

Low 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

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

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Other less relevant matches:

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 PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY


Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Low match ATAXIA-PANCYTOPENIA SYNDROME


Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.

ATAXIA-PANCYTOPENIA SYNDROME Is also known as myelocerebellar disorder

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Anemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ATAXIA-PANCYTOPENIA SYNDROME

Low match MULTIPLE SYMMETRIC LIPOMATOSIS


Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).

MULTIPLE SYMMETRIC LIPOMATOSIS Is also known as launois-bensaude lipomatosis|familial benign cervical lipomatosis|madelung disease|cephalothoracic lipodystrophy|lipomatosis, familial benign cervical|lipodystrophy, cephalothoracic

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE SYMMETRIC LIPOMATOSIS

Low match TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY


Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Low match FAMILIAL PORENCEPHALY


Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Top 5 symptoms//phenotypes associated to Anemia and Abnormal pyramidal sign

Symptoms // Phenotype % cases
Babinski sign Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Abnormal pyramidal sign. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Tremor Ataxia Gait disturbance Hyperreflexia Thrombocytopenia Dystonia Hemolytic anemia Microcephaly Muscular hypotonia Splenomegaly Gliosis Clonus Nystagmus Generalized hypotonia Intellectual disability Cerebellar atrophy

Rare Symptoms - Less than 30% cases


Paraplegia Cerebral atrophy Loss of speech Spastic paraplegia Abnormality of the nervous system Unsteady gait Muscle cramps Leukoencephalopathy Ankle clonus Ventriculomegaly Recurrent respiratory infections Tetraparesis Delayed speech and language development Scoliosis Fatigue Myoclonus Spastic tetraparesis Hemiplegia Cerebral calcification Leukodystrophy Peripheral neuropathy Strabismus Ragged-red muscle fibers Neurological speech impairment Abnormality of movement Dysmetria Intention tremor Incoordination Hemiparesis Hyperactive deep tendon reflexes Neuronal loss in central nervous system Macrocytic anemia Motor delay Abnormality of the cerebral white matter Decreased nerve conduction velocity Osteopenia Hyporeflexia Congestive heart failure Hyperlipoproteinemia Alcoholism Myopathy Decreased LDL cholesterol concentration Neuropathic arthropathy Cardiomyopathy Increased HDL cholesterol concentration Gout Abnormal adipose tissue morphology Respiratory distress Skeletal muscle atrophy Areflexia Muscle weakness Kyphosis Recurrent infections Tachycardia Oligomenorrhea Paresthesia Acute myelomonocytic leukemia Abnormal macrophage morphology Neoplasm Pain Hypertension Hepatomegaly Pes cavus Diabetes mellitus Hypothyroidism Arthralgia Joint stiffness Abnormality of the liver Jaundice Lipoma Polyneuropathy Abnormality of the skin Myocardial infarction Insulin resistance Hoarse voice Reduced tendon reflexes Abnormality of mitochondrial metabolism Oral-pharyngeal dysphagia Coronary artery atherosclerosis Axonal degeneration Multiple lipomas Arthropathy Respiratory failure Chronic hemolytic anemia Hypertrophic cardiomyopathy Restlessness Mitral valve prolapse Exotropia Cerebral palsy Drooling Ischemic stroke Intracranial hemorrhage Cerebral hemorrhage Dysphasia Cortical dysplasia Opisthotonus Visual field defect Limb dystonia Posterior embryotoxon Hematuria Hypoplasia of the iris Transient ischemic attack Facial paralysis Nuclear cataract Stroke-like episode Porencephalic cyst Primitive reflex Hemianopia Pontocerebellar atrophy Schizencephaly Perivascular spaces Spastic hemiparesis Renal cyst Polymicrogyria Respiratory tract infection Cholecystitis Pallor Limb muscle weakness Dyskinesia Optic disc pallor Oligohydramnios Involuntary movements Progressive muscle weakness Respiratory insufficiency due to muscle weakness Cholelithiasis Abnormality of immune system physiology Diaphragmatic paralysis Normocytic anemia Nonspherocytic hemolytic anemia Stroke Normochromic anemia Abnormal posturing Increased sensitivity to ionizing radiation Congenital hemolytic anemia Central nervous system degeneration Cataract Cognitive impairment Hydrocephalus Hypertonia Dilatation Elevated serum creatine phosphokinase Cerebellar hypoplasia Hypoplastic anemia Cerebral vasculitis Abnormal platelet function Growth delay Ophthalmoplegia Abnormal cerebellum morphology Generalized-onset seizure Bone pain Cachexia Loss of consciousness Hypersplenism Erlenmeyer flask deformity of the femurs Elevated serum acid phosphatase Increased cerebral lipofuscin Hearing impairment Feeding difficulties Intellectual disability, mild Visual impairment Wide nasal bridge Hypoplasia of the corpus callosum Encephalopathy Cerebral cortical atrophy Acidosis EEG abnormality Lactic acidosis Generalized myoclonic seizures Increased serum lactate Epileptic encephalopathy Hepatosplenomegaly Limb tremor Status epilepticus Abnormality of the vasculature Intrauterine growth retardation Abnormality of metabolism/homeostasis Dysdiadochokinesis Microcytic anemia Hypochromic microcytic anemia Sideroblastic anemia Nonprogressive cerebellar ataxia Mental deterioration Inability to walk Gastrointestinal hemorrhage Abnormality of extrapyramidal motor function Rigidity Loss of ability to walk Developmental regression Skin rash Falls Progressive neurologic deterioration Frequent falls Lower limb spasticity Toe walking Freckling Progressive spastic paraplegia Generalized dystonia Moderate global developmental delay Hypsarrhythmia Aminoaciduria Vertical nystagmus Decreased antibody level in blood Abnormal T cell morphology Recurrent opportunistic infections Brain abscess Lymph node hypoplasia Abnormality of B cell physiology Gait ataxia Leukemia Distal sensory impairment Neutropenia Postural instability Progressive cerebellar ataxia Pancytopenia Pure red cell aplasia Telangiectasia Bone marrow hypocellularity Leukopenia Myelodysplasia Aplasia/Hypoplasia of the cerebellum Myeloid leukemia Acute myeloid leukemia Impaired vibration sensation in the lower limbs Acute leukemia Gait imbalance Abnormality of neutrophils Autoimmune neutropenia Hypouricemia Atrophy/Degeneration affecting the brainstem Lymphoma Diffuse cerebral atrophy Abnormality of the mitochondrion Generalized aminoaciduria Type 2 muscle fiber atrophy Mitochondrial encephalopathy Epilepsia partialis continua Failure to thrive Behavioral abnormality Immunodeficiency Pneumonia Tetraplegia Otitis media Impaired T cell function Spastic tetraplegia Recurrent urinary tract infections Sinusitis Lymphopenia Recurrent bacterial infections Recurrent upper respiratory tract infections Spastic diplegia Autoimmune hemolytic anemia Autoimmune thrombocytopenia Recurrent lower respiratory tract infections Recurrent viral infections Antenatal intracerebral hemorrhage



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