Anemia, and Babinski sign

Diseases related with Anemia and Babinski sign

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Medium 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

Medium 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

Medium 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

Medium 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

Medium 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

Medium match MUCOLIPIDOSIS IV; ML4


Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv|sialolipidosis

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOLIPIDOSIS IV; ML4

Medium match MCLEOD NEUROACANTHOCYTOSIS SYNDROME


McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Babinski sign

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hemolytic anemia Gait disturbance Seizures Generalized hypotonia Cerebellar atrophy Nystagmus Microcephaly Dysarthria Ataxia Muscular hypotonia Neuronal loss in central nervous system Peripheral neuropathy Intellectual disability Abnormality of the nervous system Tremor Cerebral atrophy Abnormal pyramidal sign Clonus Strabismus Abnormality of the cerebral white matter

Rare Symptoms - Less than 30% cases


Decreased nerve conduction velocity Impaired vibration sensation in the lower limbs Delayed speech and language development Visual impairment Hypoplasia of the corpus callosum Dysmetria Abnormality of movement Thrombocytopenia Scoliosis Macrocytic anemia Neurological speech impairment Gliosis Ragged-red muscle fibers Involuntary movements Hepatomegaly Restlessness Muscle cramps Tetraparesis Motor delay Behavioral abnormality Spastic tetraplegia Paresthesia Muscle weakness Ventriculomegaly Intention tremor Areflexia Dyskinesia Hyperactive deep tendon reflexes Rigidity Unsteady gait Developmental regression Spastic paraplegia Paraplegia Recurrent respiratory infections Cataract Progressive neurologic deterioration Cognitive impairment Incoordination Cardiomyopathy Hepatosplenomegaly Elevated serum creatine phosphokinase Hypertonia Myopathy Ankle clonus Congestive heart failure Abnormal facial shape Porencephalic cyst Skeletal dysplasia Nuclear cataract Reduced visual acuity Corneal opacity Retinal degeneration Stroke-like episode Photophobia Primitive reflex Antenatal intracerebral hemorrhage Abnormality of eye movement Hemianopia Pontocerebellar atrophy Schizencephaly Coarse facial features Spastic hemiparesis Absent speech Optic atrophy Myopia Perivascular spaces Hemiparesis Facial paralysis Mitral valve prolapse Cholecystitis Nonspherocytic hemolytic anemia Normochromic anemia Abnormal posturing Chronic hemolytic anemia Congenital hemolytic anemia Central nervous system degeneration Hydrocephalus Dilatation Cerebellar hypoplasia Stroke Polymicrogyria Hematuria Renal cyst Esotropia Transient ischemic attack Dysphasia Hypoplasia of the iris Posterior embryotoxon Limb dystonia Visual field defect Opisthotonus Cortical dysplasia Cerebral hemorrhage Exotropia Intracranial hemorrhage Hemiplegia Ischemic stroke Drooling Cerebral palsy Leukoencephalopathy Retinal dystrophy Abnormality of ganglioside metabolism High myopia Ventricular fibrillation Ventricular extrasystoles Bipolar affective disorder Insomnia Impaired pain sensation Rhabdomyolysis Bowel incontinence Sensory axonal neuropathy Emotional lability Motor axonal neuropathy Personality changes Obsessive-compulsive behavior Ventricular arrhythmia Sleep apnea Cardiac arrest Sensorimotor neuropathy Hallucinations Left bundle branch block Supraventricular tachycardia Atrial fibrillation Abnormal social behavior Hyporeflexia of upper limbs Abnormal facial expression Blood group antigen abnormality Recurrent singultus Abnormal corpus striatum morphology Caudate atrophy Abnormal lactate dehydrogenase activity Impaired temperature sensation Acanthocytosis Generalized limb muscle atrophy Personality disorder Increased muscle fatiguability Hyporeflexia of lower limbs Excessive salivation Orofacial dyskinesia Tics Left ventricular hypertrophy Generalized-onset seizure Amblyopia Motor deterioration Progressive psychomotor deterioration Hoarse cry Dysplastic corpus callosum Cerebral dysmyelination Esodeviation Titubation Decreased light- and dark-adapted electroretinogram amplitude Developmental stagnation Abnormality of mucopolysaccharide metabolism Increased serum ferritin Abnormality of abdomen morphology Severe vision loss Palpebral edema Iron deficiency anemia Opacification of the corneal stroma Aspiration Oligosacchariduria Truncal titubation Memory impairment Anxiety Chorea Parkinsonism Sensory neuropathy Confusion Lower limb muscle weakness Dilated cardiomyopathy Mental deterioration Elevated hepatic transaminase Diaphragmatic paralysis Dyspnea Hyperhidrosis Dementia Arrhythmia Depressivity Dysphagia Short stature Normocytic anemia Lipoma Abnormality of immune system physiology Epilepsia partialis continua Otitis media Lymphoma Tetraplegia Pneumonia Immunodeficiency Failure to thrive Mitochondrial encephalopathy Sinusitis Type 2 muscle fiber atrophy Generalized aminoaciduria Abnormality of the mitochondrion Diffuse cerebral atrophy Atrophy/Degeneration affecting the brainstem Aminoaciduria Recurrent urinary tract infections Lymphopenia Hypsarrhythmia Impaired T cell function Cerebral vasculitis Recurrent opportunistic infections Abnormal T cell morphology Autoimmune neutropenia Pure red cell aplasia Hypouricemia Recurrent viral infections Recurrent bacterial infections Recurrent lower respiratory tract infections Autoimmune thrombocytopenia Autoimmune hemolytic anemia Spastic diplegia Recurrent upper respiratory tract infections Spastic tetraparesis Status epilepticus Epileptic encephalopathy Lymph node hypoplasia Skin rash Toe walking Leukodystrophy Lower limb spasticity Frequent falls Cerebral calcification Falls Nonprogressive cerebellar ataxia Progressive spastic paraplegia Sideroblastic anemia Hypochromic microcytic anemia Microcytic anemia Dysdiadochokinesis Abnormality of metabolism/homeostasis Intrauterine growth retardation Freckling Loss of speech Increased serum lactate Encephalopathy Generalized myoclonic seizures Lactic acidosis EEG abnormality Acidosis Cerebral cortical atrophy Myoclonus Wide nasal bridge Generalized dystonia Feeding difficulties Growth delay Hearing impairment Limb tremor Loss of ability to walk Moderate global developmental delay Brain abscess Abnormality of B cell physiology Cholelithiasis Arthropathy Neuropathic arthropathy Decreased LDL cholesterol concentration Alcoholism Hyperlipoproteinemia Gout Oligomenorrhea Multiple lipomas Abnormal adipose tissue morphology Axonal degeneration Coronary artery atherosclerosis Oral-pharyngeal dysphagia Abnormality of mitochondrial metabolism Reduced tendon reflexes Hoarse voice Increased HDL cholesterol concentration Skeletal muscle atrophy Myocardial infarction Respiratory tract infection Respiratory insufficiency due to muscle weakness Progressive muscle weakness Oligohydramnios Optic disc pallor Limb muscle weakness Pallor Hypertrophic cardiomyopathy Fatigue Jaundice Respiratory failure Hyporeflexia Recurrent infections Kyphosis Respiratory distress Insulin resistance Abnormality of the skin Gait ataxia Telangiectasia Acute myeloid leukemia Myeloid leukemia Aplasia/Hypoplasia of the cerebellum Myelodysplasia Leukopenia Bone marrow hypocellularity Pancytopenia Gait imbalance Decreased antibody level in blood Progressive cerebellar ataxia Postural instability Neutropenia Distal sensory impairment Leukemia Acute leukemia Abnormality of neutrophils Polyneuropathy Pes cavus Tachycardia Abnormality of the liver Joint stiffness Arthralgia Hypothyroidism Diabetes mellitus Hypertension Vertical nystagmus Pain Neoplasm Abnormal macrophage morphology Acute myelomonocytic leukemia Hypoplastic anemia Increased sensitivity to ionizing radiation Abnormal platelet function Abnormality of the astrocytes



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