Anemia, and Dysmetria

Diseases related with Anemia and Dysmetria

In the following list you will find some of the most common rare diseases related to Anemia and Dysmetria 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 GROWTH AND DEVELOPMENTAL DELAY-HYPOTONIA-VISION IMPAIRMENT-LACTIC ACIDOSIS SYNDROME


Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Growth delay
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about GROWTH AND DEVELOPMENTAL DELAY-HYPOTONIA-VISION IMPAIRMENT-LACTIC ACIDOSIS SYNDROME

Low match PAROXYSMAL EXERTION-INDUCED DYSKINESIA


Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia|dyt18|dystonia 18|ped|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA

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Other less relevant matches:

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 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME


Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by Tuschl et al., 2012 and Quadri et al., 2012). Genetic Heterogeneity of Hypermanganesemia With DystoniaSee also HMNDYT2 (OMIM ), caused by mutation in the SLC39A14 gene (OMIM ) on chromosome 8p21.

CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME Is also known as hmdpc|hypermanganesemia with dystonia, polycythemia, and cirrhosis

Related symptoms:

  • Microcephaly
  • Ataxia
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match HEMOLYTIC ANEMIA DUE TO GLUCOPHOSPHATE ISOMERASE DEFICIENCY


Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Muscle weakness
  • Anemia
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC ANEMIA DUE TO GLUCOPHOSPHATE ISOMERASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Anemia and Dysmetria

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Global developmental delay Hyperreflexia Dysdiadochokinesis Gait disturbance Cognitive impairment Polyneuropathy Short stature Hearing impairment Hemolytic anemia Cataract Seizures Muscle weakness Hypothyroidism Dystonia Peripheral neuropathy Gait ataxia Cardiomyopathy Postural instability Scoliosis Generalized hypotonia Delayed speech and language development Jaundice Muscular hypotonia Intrauterine growth retardation Babinski sign Neurological speech impairment Abnormality of movement Specific learning disability Growth delay Clonus Thrombocytopenia Hyperactive deep tendon reflexes Splenomegaly Cerebellar atrophy Mental deterioration

Rare Symptoms - Less than 30% cases


Inguinal hernia Hypogonadism Rigidity Obesity Diabetes mellitus Hernia Recurrent infections Attention deficit hyperactivity disorder Gait imbalance Immunodeficiency Hypoplasia of the corpus callosum Ventriculomegaly Abnormal facial shape Sensorineural hearing impairment Neoplasm Aplasia/Hypoplasia of the cerebellum Decreased nerve conduction velocity Leukopenia Bone marrow hypocellularity Gliosis Dilated cardiomyopathy Anal atresia Renal agenesis Cholelithiasis Truncal ataxia Abnormality of the liver Hypertrophic cardiomyopathy Encephalopathy Hypertonia Hepatomegaly Hypertension Psychotic episodes Echolalia Delusions Hypoparathyroidism Vitiligo Axonal loss Basal ganglia calcification Schizophrenia Pigmentary retinopathy Purpura Hallucinations Psychosis Amenorrhea Congenital cataract Abnormality of the pinna Anxiety Dementia Depressivity Short neck Fever Unilateral renal agenesis Goiter Bradykinesia Progressive cerebellar ataxia Seborrheic dermatitis Paresthesia Migraine Acidosis Skeletal muscle atrophy Lactic acidosis Involuntary movements Increased serum lactate Slurred speech Hemiplegia Visual impairment Generalized-onset seizure Action tremor Cerebral atrophy Incoordination Myoclonus EEG abnormality Intellectual disability, mild Chorea Generalized tonic-clonic seizures Falls Strabismus Aggressive behavior Confusion Cerebral visual impairment Cardiac arrest EMG abnormality Polymicrogyria Nausea Peripheral axonal neuropathy Vertigo Ichthyosis Decreased body weight Delayed puberty Malabsorption Hirsutism Carious teeth Ophthalmoplegia Generalized hirsutism Hypogonadotrophic hypogonadism Type I diabetes mellitus Arthrogryposis multiplex congenita Lethargy Nausea and vomiting Coma Nephropathy Anorexia Left ventricular hypertrophy Hypertrichosis Hemiparesis Atrial fibrillation Ventricular hypertrophy Status epilepticus Pulmonary arterial hypertension Type II diabetes mellitus Nephrotic syndrome Bilateral sensorineural hearing impairment Abnormality of retinal pigmentation Abnormality of the cardiovascular system Cerebral calcification Pruritus Memory impairment Gingival overgrowth Sensory impairment Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Muscle cramps Hip dysplasia Distal sensory impairment Stroke Hypertelorism Myopathy Blindness Respiratory distress Respiratory insufficiency Dysphagia Fatigue Optic atrophy Motor delay Feeding difficulties Ptosis Pain Failure to thrive Abnormality of divalent inorganic cation homeostasis Diarrhea Abnormal transferrin saturation Copper accumulation in liver Increased total iron binding capacity Decreased serum ferritin Pica Abnormality of amino acid metabolism Abnormal basal ganglia MRI signal intensity Abnormal globus pallidus morphology Vitamin E deficiency Unconjugated hyperbilirubinemia Micronodular cirrhosis Hepatic encephalopathy Hyperglycinemia Vomiting Congestive heart failure Nyctalopia Cerebral cortical atrophy Erythema Exercise intolerance Developmental regression Feeding difficulties in infancy Apnea Proteinuria Myalgia Photophobia Gastroesophageal reflux Dyspnea Autism Weight loss Abdominal pain Abnormality of the dentition Osteoporosis Rod-cone dystrophy Cerebellar hypoplasia Constipation Delayed skeletal maturation Elevated serum creatine phosphokinase Hyporeflexia Areflexia Arrhythmia Visual loss Headache Renal insufficiency Kyphosis Protruding ear Ragged-red muscle fibers Macular degeneration Episodic vomiting Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Abnormality of the renal tubule Tubulointerstitial abnormality Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Stroke-like episode Anterior hypopituitarism Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Renal Fanconi syndrome Abnormality of the cerebellar vermis Tubulointerstitial nephritis Episodic quadriplegia Spontaneous hemolytic crises Decreased glucosephosphate isomerase activity Pigment gallstones Nonspherocytic hemolytic anemia Cholecystitis Sensory ataxia Hydrops fetalis Edema Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Abnormality of acid-base homeostasis Crohn's disease Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Visual hallucinations Renal tubular dysfunction Pancreatitis Aortic aneurysm Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Bilateral ptosis Aphasia Hypercalciuria Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Mutism Hypopigmented skin patches Ischemic stroke Poor fine motor coordination Reduced tendon reflexes External ophthalmoplegia Bundle branch block Vestibular dysfunction Aortic dissection Drowsiness Facial diplegia Cardiorespiratory arrest Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Heart block Xerostomia Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Distal arthrogryposis Dysphasia Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Abnormal myelination Portal hypertension Prolonged prothrombin time Hypotelorism Acanthosis nigricans Short chin Hypergonadotropic hypogonadism Lymphopenia Insulin resistance Abnormal lung morphology Broad-based gait Cutaneous photosensitivity Renal hypoplasia Epidermal acanthosis Apraxia Sloping forehead Focal-onset seizure Choreoathetosis Limb undergrowth Decreased testicular size Convex nasal ridge Frequent falls Broad nasal tip Triangular face Lower limb spasticity Sensory neuropathy Long face Synophrys Hypermetropia Postural tremor Bilateral cryptorchidism Small for gestational age Multinodular goiter Absent speech Abnormality of cardiovascular system morphology Behavioral abnormality Intellectual disability, severe Atrial septal defect Hydrocephalus Ventricular septal defect High palate Cleft palate Long neck Gastrointestinal stroma tumor Glioma Sensory axonal neuropathy Chronic lung disease Shuffling gait Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Abnormality of lipid metabolism Cerebellar vermis atrophy Long nose Truncal obesity Cortical gyral simplification Ectopic kidney High pitched voice Limb ataxia Prominent nasal bridge Dyskinesia Acute myeloid leukemia Focal aware seizure Abnormal macrophage morphology Acute myelomonocytic leukemia Hypoplastic anemia Increased sensitivity to ionizing radiation Abnormal platelet function Vertical nystagmus Abnormality of neutrophils Upper limb dysmetria Acute leukemia Impaired vibration sensation in the lower limbs Myeloid leukemia Paroxysmal dystonia Ankle clonus Hypoglycorrhachia Myelodysplasia Generalized tonic-clonic seizures without focal onset Recurrent respiratory infections Abnormality of the nervous system Telangiectasia Pancytopenia Decreased antibody level in blood Leukemia Abnormality of the cerebral white matter Unsteady gait Jerky head movements Paroxysmal dyskinesia Short philtrum Pes cavus Progressive microcephaly Abnormal pyramidal sign Retinopathy Sparse hair Postnatal growth retardation Horizontal nystagmus Deeply set eye High forehead Mandibular prognathia Absence seizures Micropenis Severe short stature Focal impaired awareness seizure Limb dysmetria Clinodactyly Impulsivity Atonic seizures Midface retrusion Reticulocytosis Hand tremor Long philtrum Episodic ataxia Torsion dystonia Abnormality of the head Cryptorchidism Migraine without aura Hypospadias Patent ductus arteriosus Astrocytosis Arteria lusoria Hypochromic microcytic anemia Sideroblastic anemia Nonprogressive cerebellar ataxia Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Aplasia of the thymus Pneumonia Conotruncal defect Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Mood swings Platybasia Perimembranous ventricular septal defect Interrupted aortic arch Microcytic anemia Difficulty walking Aplasia of the uterus Hyperbilirubinemia Esophageal varix Hypomimic face Generalized dystonia Limb dystonia Polycythemia Abnormality of coagulation Steppage gait Toe walking Emotional lability Neutropenia Spastic paraparesis Paraparesis Elevated hepatic transaminase Sensorimotor neuropathy Decreased liver function Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Gastrointestinal hemorrhage Parkinsonism Neurodegeneration Hepatic steatosis Cirrhosis Lower limb muscle weakness Abnormality of metabolism/homeostasis Intention tremor Graves disease Juvenile rheumatoid arthritis Abnormal heart morphology Vesicoureteral reflux Narrow palpebral fissure Multicystic kidney dysplasia Hypocalcemia Spina bifida Renal dysplasia Open mouth Primary amenorrhea Low posterior hairline Tetralogy of Fallot Peripheral demyelination Underdeveloped nasal alae Bifid uvula Bicuspid aortic valve Bulbous nose Intellectual disability, moderate Pulmonic stenosis Irritability Autoimmunity Blepharophimosis Arthritis Conductive hearing impairment Umbilical hernia Retrognathia Hyperactivity Posteriorly rotated ears Holoprosencephaly Arnold-Chiari malformation Pulmonary artery atresia Autoimmune hemolytic anemia Abnormality of the endocrine system Myelomeningocele Truncus arteriosus Pierre-Robin sequence Meningocele Hearing abnormality Bipolar affective disorder Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Macrocytic anemia Difficulty running Spasticity Abnormality of the ear Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Acne Obsessive-compulsive behavior Apathy Psoriasiform dermatitis Rheumatoid arthritis Abnormality of the mitochondrion Nasal speech Abnormality of the hand Impaired neutrophil bactericidal activity



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