Cognitive impairment, and Chronic myelogenous leukemia

Diseases related with Cognitive impairment and Chronic myelogenous leukemia

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


Top matches:

Medium 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

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

Medium 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

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Other less relevant matches:

Low match FAMILIAL THROMBOCYTOSIS


Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.

FAMILIAL THROMBOCYTOSIS Is also known as familial thrombocythemia|hereditary thrombocythemia

Related symptoms:

  • Seizures
  • Dysarthria
  • Splenomegaly
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THROMBOCYTOSIS

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 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

Low match MASTOCYTOSIS, CUTANEOUS; MASTC


Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).

MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous|mastocytosis, diffuse cutaneous|urticaria pigmentosa

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASTOCYTOSIS, CUTANEOUS; MASTC

Low match NASU-HAKOLA DISEASE


Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

NASU-HAKOLA DISEASE Is also known as plosl|dementia, prefrontal, with bone cysts|plo-sl|dementia, progressive, with lipomembranous polycystic osteodysplasia|nasu-hakola disease|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|brain-bone-fat disease|nhd|presenile d

Related symptoms:

  • Seizures
  • Pain
  • Spasticity
  • Gait disturbance
  • Ventriculomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NASU-HAKOLA DISEASE

Low match NOONAN SYNDROME 3; NS3


Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Low match DE SANCTIS-CACCHIONE SYNDROME


A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DE SANCTIS-CACCHIONE SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Chronic myelogenous leukemia

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

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

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Bone pain Short stature Neoplasm Hypertension Weight loss Macrocephaly Headache Arthralgia Ataxia Myeloid leukemia Pruritus Lymphoma Dysarthria Abnormality of the nervous system Spasticity Osteoporosis Scoliosis Telangiectasia Hydrocephalus Peripheral neuropathy Hepatomegaly Gait disturbance Edema Cafe-au-lait spot

Rare Symptoms - Less than 30% cases


Recurrent fractures Acute leukemia Myeloproliferative disorder Night sweats Gastrointestinal stroma tumor Acute lymphoblastic leukemia Gastrointestinal hemorrhage Cerebral palsy Multiple cafe-au-lait spots Breast carcinoma Abnormal facial shape Oculomotor apraxia Chest pain Choreoathetosis Skeletal dysplasia Gastroesophageal reflux Apraxia Hypertelorism Delayed speech and language development Ptosis Venous thrombosis Overgrowth Paresthesia Malabsorption Pulmonic stenosis Thrombocytopenia Mitral valve prolapse Hypertrophic cardiomyopathy Dementia Hepatosplenomegaly Thrombocytosis Reduced bone mineral density Sarcoma Back pain Behavioral abnormality Tibial bowing Abnormality of the skeletal system Retinopathy Cirrhosis Severe short stature Abnormal bleeding Chorea Microcephaly Confusion Pneumonia Recurrent infections Cerebellar atrophy Hearing impairment Flexion contracture Irritability Myoclonus Bone marrow hypocellularity Strabismus Abdominal pain Rigidity Ventriculomegaly Neurological speech impairment Abnormality of movement Hypoxemia Fatigue Frontal bossing Increased lactate dehydrogenase activity Priapism Abnormality of femur morphology Pigment gallstones Increased red cell sickling tendency Central apnea Abnormal hemoglobin Cor pulmonale Increased mean corpuscular volume Dysuria Upper airway obstruction Limited hip extension Communicating hydrocephalus Generalized joint laxity Osteopetrosis Generalized hypotonia Megalencephaly Spinal cord compression Abnormal lactate dehydrogenase activity Myelopathy Multiple epiphyseal dysplasia Chronic hemolytic anemia Small foramen magnum Iritis Left ventricular failure Microalbuminuria Cervical cord compression Hypochromic anemia Hypopnea Obstructive lung disease Cervical myelopathy Abnormality of the spleen Unconjugated hyperbilirubinemia Pure red cell aplasia Central sleep apnea Childhood onset short-limb short stature Brain stem compression Persistence of hemoglobin F Neonatal short-limb short stature Thoracolumbar kyphosis Recurrent ear infections Obstructive sleep apnea Disproportionate short stature Abnormality of the elbow Oral cleft Abnormal form of the vertebral bodies Recurrent otitis media Osteoarthritis Tetraparesis Epidermal acanthosis Lumbar hyperlordosis Otitis media Sleep disturbance Motor delay Depressed nasal bridge Micromelia Abnormal lung morphology Joint hyperflexibility Scarring Hyperlordosis Apnea Cleft lip Conductive hearing impairment Hyperreflexia Brachydactyly Malar flattening Midface retrusion Abnormality of the metaphysis Recurrent urinary tract infections Spinal canal stenosis Genu varum Hip contracture Neuroblastoma Obesity Limited elbow extension Bowel incontinence Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Chronic otitis media Epiphyseal dysplasia Abnormality of pelvic girdle bone morphology Rhizomelia Tinnitus Disproportionate short-limb short stature Short long bone Infantile muscular hypotonia Sleep apnea Growth delay Acanthosis nigricans Paraparesis Clonus Short toe Mental deterioration Lymphadenopathy Trident hand Agnosia Epicanthus High palate Low-set ears Poikiloderma Global developmental delay Euphoria Lack of insight Abnormal adipose tissue morphology Caudate atrophy Olivopontocerebellar atrophy Functional abnormality of the gastrointestinal tract Frontal lobe dementia Abnormal upper motor neuron morphology Ventricular septal defect Inappropriate behavior Primitive reflex Bone cyst Disinhibition Cerebral edema Senile plaques Neurofibrillary tangles Axonal loss Basal ganglia calcification Pathologic fracture Alzheimer disease Personality changes Downslanted palpebral fissures Anteverted nares Leukoencephalopathy Keratitis Hyporeflexia Areflexia Sensorineural hearing impairment Cutaneous photosensitivity Progressive neurologic deterioration Conjunctivitis Dysplastic pulmonary valve Melanoma Atrial septal dilatation Juvenile myelomonocytic leukemia Dermal atrophy Ectropion Hypoplastic nasal bridge Atrial septal defect Sagittal craniosynostosis Scaphocephaly Cystic hygroma Pterygium Deep philtrum Webbed neck Dolichocephaly Craniosynostosis Polyhydramnios Posteriorly rotated ears Patent ductus arteriosus Pectus excavatum Short nose Abnormality of the hand Abnormality of epiphysis morphology Spinal stenosis with reduced interpedicular distance Sudden cardiac death Loss of consciousness Portal hypertension Urticaria Entropion Shock Leukopenia Asplenia Osteolysis Abnormal blistering of the skin Hypotension Defective DNA repair after ultraviolet radiation damage Asthma Ascites Abnormality of blood and blood-forming tissues Tachycardia Nausea Ichthyosis Photophobia Nausea and vomiting Papule Skin rash Erythema Myalgia Arrhythmia Diarrhea Lumbar kyphosis in infancy Myelitis Hypermelanotic macule Flushing Cerebral calcification Hypoplasia of the corpus callosum Peripheral demyelination Memory impairment Urinary incontinence Limitation of joint mobility Gliosis Abnormality of the foot Developmental regression Aggressive behavior EEG abnormality Cerebral cortical atrophy Babinski sign Cerebral atrophy Telangiectasia macularis eruptiva perstans Allergy Chronic leukemia Anaphylactic shock Cutaneous mastocytosis Dermatographic urticaria Mastocytosis Abnormality of the gastric mucosa Food intolerance Abnormal eosinophil morphology Impaired temperature sensation Asthenia Immunologic hypersensitivity Hypersplenism Generalized osteosclerosis Atelectasis Myelodysplasia Elevated serum creatinine Severe combined immunodeficiency Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma Renal neoplasm Recurrent bronchitis Chromosome breakage Recurrent lower respiratory tract infections Hepatocellular carcinoma Abnormality of chromosome stability Hypopigmentation of hair Hodgkin lymphoma IgA deficiency Prematurely aged appearance Abnormality of the immune system Telangiectasia of the skin Aplasia/Hypoplasia of the skin Resting tremor Premature graying of hair Combined immunodeficiency Glucose intolerance Cellular immunodeficiency Conjunctival telangiectasia Spinal muscular atrophy IgE deficiency Abnormal heart morphology Visual loss Depressivity Abnormality of cardiovascular system morphology Dilatation Intellectual disability, mild Blindness Cardiomyopathy Respiratory insufficiency Visual impairment Defective B cell differentiation Interosseus muscle atrophy Neoplasm of the breast 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 Elevated alpha-fetoprotein Abnormal spermatogenesis Athetosis Polycystic ovaries Glaucoma Absent axillary hair Diabetes mellitus Recurrent respiratory infections Immunodeficiency Dystonia Tremor Skeletal muscle atrophy Muscle weakness Failure to thrive Nystagmus Sea-blue histiocytosis Elevated serum acid phosphatase Mediastinal lymphadenopathy Difficulty walking Mucopolysacchariduria Histiocytosis Pulmonary infiltrates Blepharitis Autoimmune thrombocytopenia Petechiae Purpura Hyperpigmentation of the skin Subcutaneous nodule Hypertriglyceridemia Hypopigmentation of the skin Abnormality of the eye Gait ataxia Elevated hepatic transaminase Slurred speech Type II diabetes mellitus Reduced tendon reflexes Recurrent pneumonia Truncal ataxia Abnormality of the hair Lymphopenia Abnormal vertebral morphology Sinusitis Limb ataxia Bronchiectasis Intention tremor Pancytopenia Hepatitis Carcinoma Decreased antibody level in blood Progressive cerebellar ataxia Abnormal cerebellum morphology Polyneuropathy Distal amyotrophy Unsteady gait Abnormality of eye movement Delayed puberty Distal muscle weakness Abnormality of the liver Respiratory tract infection Anxiety Hyperactivity Autism Abnormality of the vasculature Spinal neurofibromas Acute myeloid leukemia Visual field defect Spontaneous abortion Pulmonary arterial hypertension Syncope Vertigo Hyperhidrosis Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Inguinal freckling Peripheral arterial stenosis Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Transient ischemic attack Cerebral ischemia Pseudoarthrosis Cholestasis Reticulocytosis Aseptic necrosis Poor appetite Iron deficiency anemia Wheezing Microcytic anemia Osteomyelitis Leukocytosis Cholelithiasis Tachypnea Recurrent bacterial infections Cardiomegaly Arterial thrombosis Sepsis Nephropathy Hematuria Hemolytic anemia Hepatic failure Cough Stroke Jaundice Respiratory failure Renal insufficiency Respiratory distress Fever Single ventricle Soft tissue sarcoma Kyphoscoliosis Hypsarrhythmia Neurofibromas Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Incoordination Atherosclerosis Spina bifida Sensorimotor neuropathy Aganglionic megacolon Coarctation of aorta Osteomalacia Abnormality of the cardiovascular system Tetralogy of Fallot Specific learning disability Abnormality of skin pigmentation Peripheral axonal neuropathy Facial asymmetry Genu valgum Attention deficit hyperactivity disorder Paralysis Autistic behavior Hypoglycemia Osteopenia Freckling Renal cell carcinoma Epigastric pain Paraganglioma Dural ectasia Leiomyosarcoma Fibular bowing Neoplasm of the central nervous system Lisch nodules Renal phosphate wasting Schwannoma Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Anomalous pulmonary venous return Severe vision loss Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Meningioma Gangrene Increased reactive oxygen species production Overweight Gonadal hypoplasia



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