Anemia, and Apraxia

Diseases related with Anemia and Apraxia

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


Top matches:

Low match GAUCHER DISEASE, TYPE II


Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type|gd ii

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE II

Low match GALACTOSEMIA


Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by Bosch, 2006).

GALACTOSEMIA Is also known as galactose-1-phosphate uridylyltransferase deficiency|galt deficiency|galactosemia, classic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOSEMIA

Low match COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

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Other less relevant matches:

Low match SHWACHMAN-DIAMOND SYNDROME


Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND 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 ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

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 GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Low match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Low match ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY


Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.

ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY Is also known as glut1-ds|glucose transport defect, blood-brain barrier|glut-1 deficiency syndrome|de vivo disease|glucose transporter type 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Anemia and Apraxia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Gait disturbance

Uncommon Symptoms - Between 30% and 50% cases


Cognitive impairment

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Hepatomegaly Short stature Neoplasm Dysarthria Myoclonus Pancytopenia Spasticity Oculomotor apraxia Scoliosis Thrombocytopenia Leukopenia Progressive cerebellar ataxia Tremor Microcephaly Generalized hypotonia Hepatosplenomegaly Fatigue Nystagmus Progressive neurologic deterioration Hypergonadotropic hypogonadism Hepatocellular carcinoma Abdominal distention Abnormal bleeding Ascites Proteinuria Recurrent respiratory infections Abnormal pyramidal sign Delayed puberty Generalized myoclonic seizures Cyanosis Difficulty walking Specific learning disability Neurological speech impairment Slurred speech Lymphopenia Immunodeficiency Recurrent infections Delayed skeletal maturation Osteopenia Dystonia Cirrhosis Encephalopathy Abnormality of eye movement Hypogonadism Respiratory distress Splenomegaly Rigidity Diarrhea Hyperreflexia Osteoporosis Cataract Delayed speech and language development

Rare Symptoms - Less than 30% cases


Dyspnea Bone marrow hypocellularity Abdominal pain Vertebral compression fractures Supranuclear gaze palsy Multiple myeloma Abnormal myocardium morphology Choreoathetosis Intention tremor Aseptic necrosis Respiratory failure Exertional dyspnea Generalized tonic-clonic seizures Interstitial pulmonary abnormality Muscular hypotonia of the trunk Pericardial effusion Petechiae Increased antibody level in blood Edema Myeloid leukemia Status epilepticus Hypertonia Avascular necrosis of the capital femoral epiphysis Myopia Elevated hepatic transaminase Kyphosis Apnea Small for gestational age Ophthalmoplegia Spontaneous hematomas Leukemia Malabsorption Babinski sign Congestive heart failure Orthopnea Mental deterioration Erlenmeyer flask deformity of the femurs Arrhythmia Dementia Generalized osteosclerosis Decreased beta-glucocerebrosidase protein and activity Hematological neoplasm Cardiac valve calcification Horizontal supranuclear gaze palsy Abnormality of the spleen Vomiting Protuberant abdomen EEG abnormality Cardiomyopathy Abnormality of movement Syncope Epistaxis Pulmonary arterial hypertension Edema of the lower limbs Abnormality of coagulation Peripheral neuropathy Cerebral atrophy Failure to thrive in infancy Falls Diabetes mellitus Abnormality of metabolism/homeostasis Intellectual disability, mild Decreased liver function Anorexia Sepsis Dysphagia Metabolic acidosis Hepatic failure Hematuria Lethargy Feeding difficulties Abnormality of the liver Polyneuropathy Decreased body weight Lymphadenopathy Hearing impairment Cerebellar atrophy Depressivity Menorrhagia Skeletal muscle atrophy Motor delay Abnormal facial shape Muscle weakness Sensorineural hearing impairment Behavioral abnormality Renal insufficiency Respiratory tract infection Bone pain Clubbing Abnormality of the thorax Portal hypertension Cholelithiasis Increased susceptibility to fractures Abnormality of the eye Osteolysis Corneal opacity Chorea Increased bone mineral density Bruising susceptibility Abnormality of skin pigmentation Arthritis Prominent nasal bridge Severe short stature Limb undergrowth Short chin Insulin resistance Abnormal lung morphology Broad-based gait Cutaneous photosensitivity Renal hypoplasia Epidermal acanthosis Hypotelorism Sloping forehead Bradykinesia Pigmentary retinopathy Decreased testicular size Goiter Convex nasal ridge Renal agenesis Broad nasal tip Triangular face Sensory neuropathy Long face Dysmetria Retinopathy Synophrys Attention deficit hyperactivity disorder Hypermetropia Short philtrum Acanthosis nigricans Dysdiadochokinesis Micropenis Low hanging columella Hypothyroidism Long neck Gastrointestinal stroma tumor Multinodular goiter Glioma Dilated cardiomyopathy Mandibular prognathia High forehead Shuffling gait Misalignment of teeth Deeply set eye Increased circulating gonadotropin level Postural tremor Postnatal growth retardation Abnormality of lipid metabolism Cerebellar vermis atrophy Long nose Truncal obesity Cortical gyral simplification Ectopic kidney Sparse hair High pitched voice Sensory axonal neuropathy Bilateral cryptorchidism Unilateral renal agenesis Chronic lung disease Flank pain Parkinsonism Paralysis Hemiparesis Epileptic encephalopathy Focal-onset seizure Sleep disturbance Dyskinesia Confusion Poor speech Intellectual disability, moderate Postnatal microcephaly Headache Intellectual disability, severe Sleep myoclonus Abnormality of the acoustic reflex Abnormality of ion homeostasis Mitral valve calcification Abnormal saccadic eye movements Aortic valve calcification Involuntary movements Progressive microcephaly Astrocytosis Paroxysmal dyskinesia Paroxysmal involuntary eye movements Hypoglycorrhachia Generalized hyperreflexia Extrapyramidal dyskinesia Abnormal erythrocyte morphology Atypical absence seizures Paroxysmal dystonia Central apnea Muscle stiffness Drowsiness Atonic seizures Language impairment Focal impaired awareness seizure Incoordination Hyperkinesis Sleep apnea Absence seizures Abnormal thrombosis Protein-losing enteropathy Abnormality of the cardiovascular system Bipolar affective disorder Arthralgia of the hip Abnormality of bone marrow cell morphology Fractures of the long bones Hypersplenism Esodeviation Periorbital edema Increased serum ferritin Gingival bleeding Vascular calcification Pathologic fracture Osteomyelitis Leukocytosis Reduced bone mineral density Spastic paraparesis Meningitis Hepatic fibrosis Osteoarthritis Abnormal platelet function Biliary tract obstruction Restrictive deficit on pulmonary function testing Abnormal retinal morphology Hypercoagulability Slow saccadic eye movements Thoracic kyphosis Abnormal heart valve morphology Bulbar palsy Abnormality of the sternum Lower limb hyperreflexia Restrictive ventilatory defect Puberty and gonadal disorders Opisthotonus Pulmonary fibrosis Hypoalbuminemia Hydrops fetalis Neurodegeneration Pallor Aggressive behavior Hydrocephalus Pes cavus Premature graying of hair Inguinal hernia Glomerulonephritis Glutaric aciduria Steroid-resistant nephrotic syndrome Scanning speech Tubular atrophy Myoglobinuria Glomerulopathy Generalized amyotrophy Focal segmental glomerulosclerosis Ophthalmoparesis Glomerulosclerosis Exercise-induced myoglobinuria Hyperextensible skin Ragged-red muscle fibers Exercise intolerance Progressive muscle weakness Nephrotic syndrome Bilateral sensorineural hearing impairment Memory impairment Aciduria Muscle cramps Postural instability Recurrent myoglobinuria Rapid neurologic deterioration Lactic acidosis Short ribs Steatorrhea Short thorax Neonatal respiratory distress Metaphyseal widening Myelodysplasia Coxa vara Recurrent bacterial infections Nephrocalcinosis Type I diabetes mellitus Abnormality of the metaphysis Crescentic glomerulonephritis Eczema Microdontia Generalized muscle weakness Neutropenia Ichthyosis Carious teeth Narrow chest Pectus carinatum Skeletal dysplasia Abnormality of the skeletal system Nephropathy Joint hyperflexibility Acute myeloid leukemia Feeding difficulties in infancy Nephritis Premature ovarian insufficiency Abnormality of the voice Shock Aminoaciduria Hypogonadotrophic hypogonadism Hemolytic anemia Nausea and vomiting Irritability Hypoglycemia Renal tubular dysfunction Jaundice Weight loss Visual impairment Muscular hypotonia Recurrent aspiration pneumonia Bulbar signs Trismus Aspiration Esotropia Developmental regression Abnormality of the coagulation cascade Neoplasm of the liver Stroke Increased level of galactitol in plasma Hypertrophic cardiomyopathy Acidosis Rod-cone dystrophy Elevated serum creatine phosphokinase Visual loss Optic atrophy Increased level of galactonate in red blood cells Increased level of galactitol in urine Increased level of galactitol in red blood cells Impairment of galactose metabolism Speech apraxia Speech articulation difficulties Galactosuria Food intolerance Albuminuria Hyperchloremic metabolic acidosis Hypergalactosemia Retinal hemorrhage Decreased fertility in females Vitreous hemorrhage Abnormality of the ovary Multiple lipomas Exocrine pancreatic insufficiency Clinodactyly B-cell lymphoma Conjunctival telangiectasia Abnormality of chromosome stability Cellular immunodeficiency Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder Abnormality of the testis Renal neoplasm Neoplasm of the breast Recurrent bronchitis Chromosome breakage Recurrent lower respiratory tract infections Severe combined immunodeficiency Acute lymphoblastic leukemia Hypopigmentation of hair Hodgkin lymphoma IgA deficiency Prematurely aged appearance Abnormality of the immune system Chronic myelogenous leukemia Abnormal spermatogenesis Multiple cafe-au-lait spots IgE deficiency Obesity Hernia Midface retrusion Long philtrum Hypoplasia of the corpus callosum Ventriculomegaly Intrauterine growth retardation Cryptorchidism Defective B cell differentiation Interosseus muscle atrophy Elevated alpha-fetoprotein Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Decreased proportion of CD4-positive T cells Telangiectasia of the skin Aplasia/Hypoplasia of the skin Ovoid vertebral bodies Myocardial necrosis Anxiety Carcinoma Gait ataxia Pneumonia Flexion contracture Irregular ossification at anterior rib ends Narrow sacroiliac notch Proximal femoral epiphysiolysis Metaphyseal dysostosis Proximal femoral metaphyseal irregularity Unsteady gait Enlargement of the costochondral junction Paroxysmal nocturnal hemoglobinuria Persistence of hemoglobin F Metaphyseal sclerosis Anterior rib cupping Metaphyseal chondrodysplasia Recurrent aphthous stomatitis Acute monocytic leukemia Recurrent viral infections Aplastic anemia Distal muscle weakness Distal amyotrophy Resting tremor Truncal ataxia Combined immunodeficiency Glucose intolerance Athetosis Spinal muscular atrophy Polycystic ovaries Breast carcinoma Cerebral palsy Reduced tendon reflexes Recurrent pneumonia Abnormality of the hair Abnormal cerebellum morphology Abnormal vertebral morphology Sinusitis Cafe-au-lait spot Limb ataxia Bronchiectasis Telangiectasia Type II diabetes mellitus Hepatitis Decreased antibody level in blood Lymphoma Paroxysmal lethargy



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