Hyperreflexia, and Chronic myelogenous leukemia

Diseases related with Hyperreflexia and Chronic myelogenous leukemia

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Chronic myelogenous leukemia that can help you solving undiagnosed cases.


Top matches:

Medium match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Medium 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 SEA-BLUE HISTIOCYTOSIS


A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis|histiocytosis, sea-blue

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Gait disturbance


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SEA-BLUE HISTIOCYTOSIS

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Other less relevant matches:

Low match SICKLE CELL ANEMIA


Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.

SICKLE CELL ANEMIA Is also known as sickle cell disease

Related symptoms:

  • Intellectual disability
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SICKLE CELL ANEMIA

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 PELGER-HUET ANOMALY; PHA


Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match DRUG METABOLISM, ALTERED, CES1-RELATED


Carboxylesterase-1 (OMIM ) is a widely expressed serine esterase that is involved in the hydrolysis of multiple amide-containing and ester-containing endogenous and xenobiotic compounds including therapeutic agents such as methylphenidate, oseltamivir, angiotensin-converting enzyme inhibitors (e.g., trandolapril and temocapril), and anticancer drugs (e.g., capecitabin). In addition, CES1 is the primary enzyme responsible for metabolizing clopidogrel and its derivatives (summary by Lewis et al., 2013).

Related symptoms:

  • Hyperactivity
  • Leukemia
  • Lymphoma
  • Hodgkin lymphoma
  • Chronic lymphatic leukemia


SOURCES: OMIM MENDELIAN

More info about DRUG METABOLISM, ALTERED, CES1-RELATED

Low match SOTOS SYNDROME 1; SOTOS1


SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

Low match SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE


Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).

SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE Is also known as systemic mastocytosis with associated hematologic neoplasm|sm-ahnmd|sm-ahn

Related symptoms:

  • Eosinophilia
  • Myelodysplasia
  • Acute myeloid leukemia
  • Chronic myelogenous leukemia
  • Non-Hodgkin lymphoma


SOURCES: ORPHANET MENDELIAN

More info about SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE

Top 5 symptoms//phenotypes associated to Hyperreflexia and Chronic myelogenous leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Myeloid leukemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hyperreflexia and Chronic myelogenous leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Neoplasm Lymphoma Macrocephaly Peripheral neuropathy Hypertelorism Splenomegaly Short stature Abnormality of the nervous system Ataxia Nystagmus Gait disturbance Overgrowth Dysarthria Thrombocytopenia Strabismus Hypertension Acute lymphoblastic leukemia Frontal bossing Pain Cafe-au-lait spot Delayed speech and language development

Rare Symptoms - Less than 30% cases


Tibial bowing Osteoporosis Neuroblastoma Failure to thrive Behavioral abnormality Abnormal facial shape Hypoxemia Microcephaly Hyperactivity Abnormal heart morphology Hepatomegaly Edema Retinopathy Recurrent infections Cognitive impairment Progressive cerebellar ataxia Multiple cafe-au-lait spots Breast carcinoma Cerebral palsy Hodgkin lymphoma Abnormal vertebral morphology Telangiectasia Pancytopenia Apraxia Decreased antibody level in blood Unsteady gait Non-Hodgkin lymphoma Chronic lymphatic leukemia Genu valgum Neurological speech impairment Respiratory tract infection Carcinoma Gait ataxia Recurrent respiratory infections Pneumonia Increased sensitivity to ionizing radiation Cerebellar atrophy Jaundice Precocious puberty Confusion Weight loss Hydrocephalus Ventricular septal defect Myelodysplasia Neutropenia Bone marrow hypocellularity Clonus Global developmental delay Night sweats Abnormality of the skeletal system Recurrent otitis media Skeletal dysplasia Otitis media Rigidity Acute myeloid leukemia Conductive hearing impairment Incoordination Ventriculomegaly Bone pain Back pain Generalized hypotonia Flexion contracture Prominent forehead Hearing impairment Depressed nasal bridge Mitral valve prolapse Leukopenia Malabsorption Pulmonic stenosis Pruritus Attention deficit hyperactivity disorder Venous thrombosis Atherosclerosis Paralysis Reduced bone mineral density Autistic behavior Hypertrophic cardiomyopathy Sarcoma Babinski sign Gliosis Facial asymmetry Abnormality of the cerebral white matter Abnormality of the cardiovascular system Tetralogy of Fallot Dysmetria Specific learning disability Hypsarrhythmia Gastrointestinal hemorrhage Distal sensory impairment Recurrent fractures Coarctation of aorta Aganglionic megacolon Sensorimotor neuropathy Abnormality of skin pigmentation Peripheral axonal neuropathy Paresthesia Spina bifida Postural instability Decreased nerve conduction velocity Generalized tonic-clonic seizures Hypoglycemia Ectopic calcification Visual impairment Ptosis Kyphosis Clitoral hypertrophy Hyposegmentation of neutrophil nuclei Folate deficiency Median cleft palate Giant platelets Lower limb hypertonia Short 5th metacarpal Respiratory insufficiency Abnormality of chromosome segregation Short 4th metacarpal Upper limb undergrowth Lower limb hyperreflexia Pes cavus Polydactyly Umbilical hernia Mild short stature Foot dorsiflexor weakness Gingival overgrowth Abnormality of the dentition Cardiomyopathy Aplasia/Hypoplasia of the cerebellum Vertical nystagmus Ankle clonus Osteopenia Eczema Impaired vibration sensation in the lower limbs Hyperactive deep tendon reflexes Kyphoscoliosis Autism Acute leukemia Gait imbalance Abnormality of neutrophils Glaucoma Blindness Abnormal platelet function Hypoplastic anemia Visual loss Acute myelomonocytic leukemia Abnormal macrophage morphology Depressivity Abnormality of cardiovascular system morphology Dilatation Headache Intellectual disability, mild Short 3rd metacarpal Carcinoid tumor Sensory axonal neuropathy Vesicoureteral reflux Narrow palate Pointed chin Narrow face Lymphedema Tall stature Hypoplasia of dental enamel Heterotopia Clumsiness Small nail Sloping forehead Renal agenesis Hypodontia Abnormal dermatoglyphics High, narrow palate Joint hypermobility Hypermetropia Dolichocephaly Abnormality of the kidney Joint laxity Aggressive behavior Neonatal hypotonia Pes planus Coarse facial features Macrotia Mandibular prognathia Accelerated skeletal maturation Cutis laxa Atrial septal defect Periventricular leukomalacia Mastocytosis Eosinophilia Abnormality of the cerebral ventricles Small cell lung carcinoma Gray matter heterotopias Sacrococcygeal teratoma Expressive language delay Hyperplasia of the maxilla Teratoma Hamartomatous polyposis Overbite Abnormal glucose tolerance Oxycephaly Reduced number of teeth Cavum septum pellucidum Advanced eruption of teeth Long foot Enlarged cisterna magna High anterior hairline Poor coordination Prolonged neonatal jaundice Partial agenesis of the corpus callosum Agenesis of permanent teeth Large hands Nephroblastoma Redundant skin Patent ductus arteriosus Downslanted palpebral fissures Hypophosphatemia Astrocytoma Schwannoma Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Pigment gallstones Paraganglioma Anomalous pulmonary venous return Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Brain neoplasm Lisch nodules Myocardial fibrosis Neoplasm of the endocrine system Meningioma Gangrene Increased reactive oxygen species production Overweight Severe vision loss Renal cell carcinoma Osteomalacia Freckling Neurofibromas Pulmonary fibrosis Renal phosphate wasting Neoplasm of the central nervous system Optic atrophy Neurofibrosarcoma High palate Cryptorchidism Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neuroma Gastrointestinal stroma tumor Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Leiomyosarcoma Fibular bowing Increased red cell sickling tendency Cough Priapism Cervical cord compression Muscle weakness Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Small foramen magnum Iritis Hypopnea Skeletal muscle atrophy Obstructive lung disease Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Thoracolumbar kyphosis Recurrent ear infections Myelopathy Multiple epiphyseal dysplasia Cor pulmonale Abnormality of femur morphology Central apnea Spasticity Tremor Upper airway obstruction Polyneuropathy Abnormality of the hair Lymphopenia Sinusitis Limb ataxia Bronchiectasis Choreoathetosis Intention tremor Type II diabetes mellitus Hepatitis Chorea Abnormal cerebellum morphology Distal amyotrophy Dystonia Abnormality of movement Abnormality of eye movement Delayed puberty Distal muscle weakness Abnormality of the liver Anxiety Elevated hepatic transaminase Difficulty walking Diabetes mellitus Myoclonus Immunodeficiency Dysuria Communicating hydrocephalus Recurrent pneumonia Scarring Abnormality of the metaphysis Abnormal form of the vertebral bodies Osteoarthritis Tetraparesis Epidermal acanthosis Lumbar hyperlordosis Sleep disturbance Oral cleft Micromelia Joint hyperflexibility Hyperlordosis Recurrent urinary tract infections Apnea Cleft lip Arthralgia Gastroesophageal reflux Severe short stature Obesity Midface retrusion Malar flattening Brachydactyly Motor delay Growth delay Abnormal lung morphology Rhizomelia Generalized joint laxity Flared metaphysis Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Hip contracture Disproportionate short stature Limited elbow extension Bowel incontinence Short femoral neck Spondyloepiphyseal dysplasia Short toe Chronic otitis media Epiphyseal dysplasia Genu varum Abnormality of pelvic girdle bone morphology Tinnitus Disproportionate short-limb short stature Short long bone Infantile muscular hypotonia Sleep apnea Acanthosis nigricans Paraparesis Truncal ataxia Oculomotor apraxia Increased lactate dehydrogenase activity Abdominal pain Cardiomegaly Chest pain Sepsis Nephropathy Hematuria Hemolytic anemia Hepatic failure Stroke Irritability Respiratory failure Renal insufficiency Recurrent bacterial infections Respiratory distress Fatigue Fever Sea-blue histiocytosis Elevated serum acid phosphatase Absent axillary hair Mediastinal lymphadenopathy Mucopolysacchariduria Histiocytosis Pulmonary infiltrates Blepharitis Cholestasis Tachypnea Petechiae Atelectasis Abnormal lactate dehydrogenase activity Persistence of hemoglobin F Pure red cell aplasia Unconjugated hyperbilirubinemia Chronic hemolytic anemia Hypochromic anemia Microalbuminuria Abnormal hemoglobin Abnormality of the spleen Left ventricular failure Increased mean corpuscular volume Asplenia Cholelithiasis Elevated serum creatinine Abnormality of the vasculature Thrombocytosis Reticulocytosis Aseptic necrosis Poor appetite Iron deficiency anemia Wheezing Microcytic anemia Osteomyelitis Leukocytosis Autoimmune thrombocytopenia Purpura Reduced tendon reflexes IgA deficiency Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma Renal neoplasm Recurrent bronchitis Chromosome breakage Recurrent lower respiratory tract infections Severe combined immunodeficiency Hepatocellular carcinoma Hypopigmentation of hair Prematurely aged appearance Absent Achilles reflex Abnormality of the immune system Telangiectasia of the skin Aplasia/Hypoplasia of the skin Resting tremor Premature graying of hair Combined immunodeficiency Glucose intolerance Athetosis Spinal muscular atrophy Polycystic ovaries Slurred speech Spinocerebellar tract degeneration Hypoplasia of the thymus Hyperpigmentation of the skin Decreased/absent ankle reflexes Subcutaneous nodule Hypertriglyceridemia Abnormal bleeding Hypopigmentation of the skin Cirrhosis Abnormality of the eye Hepatosplenomegaly Dementia Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Immunoglobulin IgG2 deficiency Cellular immunodeficiency Progressive spinal muscular atrophy Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Female hypogonadism Chronic hepatitis Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Conjunctival telangiectasia Abnormality of chromosome stability Chronic myelomonocytic leukemia



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