Dysarthria, and Acute myeloid leukemia

Diseases related with Dysarthria and Acute myeloid leukemia

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

Top matches:

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

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

X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE Is also known as mrxs30|mental retardation, x-linked, syndromic 30|x-linked intellectual disability-nail dystrophy-seizures syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE

Other less relevant matches:

3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 7 Is also known as 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|mga7|mgca7|3-methylglutaconic aciduria, type vii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 7

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

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 WEAVER SYNDROME; WVS

Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

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

LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous

Related symptoms:

  • Seizures
  • Neoplasm
  • Pain
  • Anemia
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEUKEMIA, ACUTE MYELOID; AML

Low match NOONAN SYNDROME

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Acute myeloid leukemia

Symptoms // Phenotype % cases
Leukemia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Myeloid leukemia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Acute myeloid leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Neoplasm Anemia Myelodysplasia Pancytopenia Neurological speech impairment Recurrent infections Weight loss Abnormal facial shape Thrombocytopenia Cerebellar atrophy Bruising susceptibility Splenomegaly Lymphedema Recurrent respiratory infections Epicanthus Acute leukemia Respiratory failure Nystagmus Cafe-au-lait spot Ataxia Microcephaly Hypertelorism Lymphoma Pain Acute lymphoblastic leukemia Headache Flexion contracture Leukopenia Strabismus Spasticity Short stature Macrocephaly Chronic myelogenous leukemia

Rare Symptoms - Less than 30% cases

Neonatal hypotonia Cryptorchidism Delayed speech and language development Downslanted palpebral fissures Dysphagia Hyperactivity Myoclonus Talipes equinovarus Sarcoma Dystonia Cardiomyopathy Feeding difficulties Behavioral abnormality Growth delay Neurofibrosarcoma Global developmental delay Clinodactyly Broad face Delayed skeletal maturation Attention deficit hyperactivity disorder Fatigue Abnormality of movement Prolonged bleeding time Acute promyelocytic leukemia Breast carcinoma Slurred speech Hepatosplenomegaly Delayed puberty Multiple cafe-au-lait spots Peripheral neuropathy Cognitive impairment Muscle weakness Failure to thrive Myeloproliferative disorder Night sweats Abnormality of the testis Prominent fingertip pads Muscular hypotonia Webbed neck Lymphadenopathy Scarring Visual loss Immunodeficiency Respiratory insufficiency Low posterior hairline Fever Hepatomegaly Sensorineural hearing impairment Hearing impairment Choreoathetosis Micrognathia Coarctation of aorta Generalized hypotonia Wide intermamillary distance Bone marrow hypocellularity Short neck Depressed nasal bridge Hypertrophic cardiomyopathy Increased sensitivity to ionizing radiation Abnormal platelet function Kyphoscoliosis Venous thrombosis Abnormality of cardiovascular system morphology Incoordination Telangiectasia Pulmonic stenosis Decreased antibody level in blood Gliosis Progressive cerebellar ataxia Nail dysplasia Neutropenia Ptosis Gait disturbance Unsteady gait Gait ataxia Midface retrusion Back pain Macrotia Mitral valve prolapse Vertigo Broad forehead Hyperhidrosis Overgrowth Abnormal bleeding Sparse hair Pruritus Paresthesia Tetralogy of Fallot Horizontal eyebrow Paraganglioma Renovascular hypertension Carcinoid tumor Embryonal rhabdomyosarcoma Dysharmonic bone age Axillary freckling Rhabdomyosarcoma Anomalous pulmonary venous return Vestibular Schwannoma Complete atrioventricular canal defect Visual impairment Pheochromocytoma Parathyroid adenoma Renal artery stenosis Flared humeral metaphysis Nasolacrimal duct obstruction Aqueductal stenosis Leiomyosarcoma Epigastric pain Soft tissue sarcoma Vertebral wedging Deep-set nails Fibular bowing Pseudoarthrosis Single ventricle Gastrointestinal stroma tumor Neoplasm of the central nervous system Dural ectasia Lisch nodules Renal phosphate wasting Schwannoma Glioma Sacrococcygeal teratoma Lumbar kyphosis Flared femoral metaphysis Limited knee extension Abnormally low-pitched voice Hypertension Intellectual disability, mild Abnormality of the skeletal system Abnormality of skin pigmentation Autism Osteopenia Hypoglycemia Autistic behavior Paralysis Malabsorption Genu valgum Facial asymmetry Peripheral axonal neuropathy Recurrent fractures Osteoporosis Gastrointestinal hemorrhage Specific learning disability Reduced bone mineral density Atherosclerosis Spina bifida Abnormality of the cardiovascular system Sensorimotor neuropathy Bone pain Aganglionic megacolon Hypsarrhythmia Glaucoma Abnormal heart morphology Astrocytoma Severe vision loss Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Hydrocephalus Meningioma Gangrene Blindness Increased reactive oxygen species production Overweight Dilatation Precocious puberty Renal cell carcinoma Osteomalacia Freckling Tibial bowing Neurofibromas Pulmonary fibrosis Hypophosphatemia Depressivity Sensory axonal neuropathy Clitoral hypertrophy Neuroma Gastroesophageal reflux Optic nerve glioma Thickened nuchal skin fold Elevated circulating luteinizing hormone level Shield chest Thickened helices Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the spleen Redundant neck skin Elevated circulating follicle stimulating hormone level Abnormality of refraction Abnormality of the helix High anterior hairline Premature skin wrinkling Abnormality of the mouth Enlarged thorax Pulmonary artery stenosis Aortic root aneurysm Thoracic scoliosis Curly hair Male infertility Abnormality of digit Cystic hygroma Atrioventricular canal defect Abnormality of coagulation Myopathic facies Cubitus valgus Melanocytic nevus Abnormality of the pulmonary artery Abnormal hair quantity Abnormality of the thorax Prominent nasolabial fold Prominent digit pad Aplasia of lymphatic vessels Abnormal atrial septum morphology Abnormal lymphatic vessel morphology Abnormal anterior segment morphology Abnormal nipple morphology Morphological abnormality of the inner ear Aplasia of the semicircular canal Hypoplasia of lymphatic vessels Abnormal location of ears Puberty and gonadal disorders Amegakaryocytic thrombocytopenia Superior pectus carinatum Synovitis Hyperkeratosis pilaris Reduced factor XII activity Reduced factor XI activity Pulmonary lymphangiectasia Reduced factor VIII activity Abnormal pulmonary valve morphology Unilateral ptosis Intestinal lymphangiectasia Abnormality of the mandible Prolonged QRS complex Multiple lentigines Abnormality of the lymphatic system Chylothorax Pleural effusion Failure to thrive in infancy Subcutaneous neurofibromas Gingival bleeding Clinodactyly of the 5th finger Arrhythmia Patent ductus arteriosus Pectus excavatum Atrial septal defect Ventricular septal defect Myopia Brachydactyly High palate Chronic pain Acute monocytic leukemia Ecchymosis Neuroblastoma Hypogonadism Petechiae Menorrhagia Coma Confusion Dyspnea Respiratory distress Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Constipation Proptosis Bilateral ptosis Thick lower lip vermilion Radioulnar synostosis Abnormality of the urinary system Coarse hair Arnold-Chiari malformation Abnormal dermatoglyphics Scapular winging Hypogonadotrophic hypogonadism Aortic valve stenosis Amblyopia Decreased body weight Abnormality of the genital system Mitral regurgitation Otitis media Polyhydramnios Dental malocclusion Triangular face High, narrow palate Thick vermilion border Joint hypermobility Joint hyperflexibility Pectus carinatum Postnatal growth retardation Feeding difficulties in infancy Low-set, posteriorly rotated ears Hydronephrosis Coarse facial features High forehead Short fourth metatarsal Hernia Galactorrhea Progressive neurologic deterioration Nausea and vomiting Pallor Syndactyly Edema Congenital neutropenia 3-Methylglutaconic aciduria Dysgraphia Upper motor neuron dysfunction Dyslexia Progressive encephalopathy Opisthotonus Abnormality of extrapyramidal motor function Hemolytic anemia Neuronal loss in central nervous system Aciduria Increased serum lactate Brain atrophy Abnormal pyramidal sign Developmental regression Rigidity Hypothyroidism Encephalopathy Cerebral atrophy Cataract Cirrhosis Hematuria Regional abnormality of skin Skeletal muscle atrophy Abnormality of eye movement Distal muscle weakness Abnormality of the liver Respiratory tract infection Anxiety Carcinoma Elevated hepatic transaminase Difficulty walking Diabetes mellitus Pneumonia Tremor Abnormal neutrophil count Tapered finger Macronodular cirrhosis Erysipelas Granulocytopenia Abnormality of the optic nerve Verrucae Hypercoagulability Cellulitis Leukocytosis Chronic otitis media Intracranial hemorrhage Hypotelorism Migraine Hypointensity of cerebral white matter on MRI Almond-shaped palpebral fissure Polyneuropathy Abnormality of the nervous system Gait imbalance Hyperactive deep tendon reflexes Impaired vibration sensation in the lower limbs Ankle clonus Aplasia/Hypoplasia of the cerebellum Decreased nerve conduction velocity Clonus Postural instability Distal sensory impairment Dysmetria Abnormality of the cerebral white matter Babinski sign Vertical nystagmus Hyperreflexia Arterial thrombosis Cerebral ischemia Peripheral arterial stenosis Transient ischemic attack Thrombocytosis Visual field defect Spontaneous abortion Pulmonary arterial hypertension Syncope Chest pain Abnormality of neutrophils Hypoplastic anemia Abnormal hair whorl Thin vermilion border Spotty hypopigmentation Echolalia Broad neck Broad hallux Prominent supraorbital ridges Generalized hirsutism Increased body weight Hypopigmentation of the skin Short foot Downturned corners of mouth Hirsutism Dry skin Acute myelomonocytic leukemia Poor speech Synophrys Nail dystrophy Wide mouth Aggressive behavior Deeply set eye Pes planus Micropenis Upslanted palpebral fissure Absent speech Malar flattening Abnormal macrophage morphology Distal amyotrophy Abnormal cerebellum morphology Teratoma Abnormality of the pinna Hoarse voice Joint contracture of the hand Tall stature Broad thumb Pachygyria Hypertrichosis Fine hair Amenorrhea Round face Talipes Platyspondyly Camptodactyly Pointed chin Joint laxity Umbilical hernia Retrognathia Mandibular prognathia Prominent forehead Pes cavus Inguinal hernia Long philtrum Kyphosis Hypertonia Defective B cell differentiation Short ribs Coxa valga Interosseus muscle atrophy Down-sloping shoulders Thin nail Thoracolumbar kyphosis Calcaneovalgus deformity Poor fine motor coordination Dimple chin Broad philtrum Dilation of lateral ventricles Large earlobe Hydrocele testis Hypoplastic iliac wing Diastasis recti Prolactin excess Accelerated skeletal maturation Inverted nipples Secondary amenorrhea Absent septum pellucidum Limited elbow extension Bilateral talipes equinovarus Large for gestational age Overlapping toe Metatarsus adductus Flat occiput Radial deviation of finger Large hands Cutis laxa IgE deficiency Decreased/absent ankle reflexes Chorea Reduced tendon reflexes 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 Cerebral palsy Oculomotor apraxia IgA deficiency Recurrent pneumonia Truncal ataxia Abnormality of the hair Lymphopenia Abnormal vertebral morphology Sinusitis Limb ataxia Bronchiectasis Intention tremor Type II diabetes mellitus Apraxia Hepatitis Prematurely aged appearance Hodgkin lymphoma Immunoglobulin IgG2 deficiency Abnormality of chromosome stability Progressive spinal muscular atrophy Non-Hodgkin lymphoma 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 Cellular immunodeficiency Hypopigmentation of hair Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder B-cell lymphoma Renal neoplasm Recurrent bronchitis Chromosome breakage Recurrent lower respiratory tract infections Severe combined immunodeficiency Hepatocellular carcinoma Abnormality of the vestibular nerve


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