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:
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
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
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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
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
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
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
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
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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Wide nasal bridge and Ischemic stroke, related diseases and genetic alterations
Brachydactyly and Pancytopenia, related diseases and genetic alterations
Visual impairment and Spina bifida, related diseases and genetic alterations
Cleft palate and Growth hormone deficiency, related diseases and genetic alterations
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