Spasticity, and Myeloid leukemia

Diseases related with Spasticity and Myeloid leukemia

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


Top matches:

Low match NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3


Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010).The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes.In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (OMIM ), Chediak-Higashi syndrome (OMIM ), and Fanconi pancytopenic syndrome (see {227650}).For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (OMIM ).

NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 Is also known as agranulocytosis, infantile|kostmann disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 7


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

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

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Other less relevant matches:

Low match JUVENILE MYELOMONOCYTIC LEUKEMIA


Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (OMIM ) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic LeukemiaIn up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (OMIM ), KRAS (OMIM ), and NRAS (OMIM ) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26 ) have also been found in patients with JMML.About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1 ) due to germline mutations in the NF1 gene (OMIM ). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL ) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic LeukemiaSomatic mutations in the CBL, ASXL1 (OMIM ), TET2 (OMIM ), and SF3B1 (OMIM ) genes have been found in patients with CMML.

JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as juvenile chronic myelomonocytic leukemia|jmml|leukemia, juvenile myelomonocytic

Related symptoms:

  • Generalized hypotonia
  • Abnormal facial shape
  • Anemia
  • Anteverted nares
  • Splenomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JUVENILE MYELOMONOCYTIC LEUKEMIA

Low match EWING SARCOMA


Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Weight loss


SOURCES: OMIM ORPHANET MENDELIAN

More info about EWING SARCOMA

Low match NOONAN SYNDROME 6; NS6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Low match HOYERAAL-HREIDARSSON SYNDROME


Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

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 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 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

Top 5 symptoms//phenotypes associated to Spasticity and Myeloid leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Acute myeloid leukemia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Spasticity and Myeloid leukemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Myelodysplasia

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Growth delay Global developmental delay Short stature Neoplasm Scoliosis Bone marrow hypocellularity Seizures Neutropenia Hearing impairment Pancytopenia Cerebellar atrophy Microcephaly Gait disturbance Failure to thrive Chronic myelogenous leukemia Lymphoma Telangiectasia Thrombocytopenia Gliosis Recurrent infections Flexion contracture Leukopenia Immunodeficiency Motor delay Sepsis Acute lymphoblastic leukemia Abnormality of the nervous system

Rare Symptoms - Less than 30% cases


Respiratory tract infection Hyperreflexia Carcinoma Elevated hepatic transaminase Skeletal dysplasia Gait ataxia Recurrent respiratory infections Otitis media Hodgkin lymphoma Dysarthria Weight loss Cryptorchidism Pain Strabismus Neuroblastoma Increased sensitivity to ionizing radiation Neurological speech impairment Intellectual disability, mild Truncal ataxia Depressed nasal bridge Cafe-au-lait spot Macrocephaly Peripheral neuropathy Hepatosplenomegaly Apraxia Recurrent bacterial infections Abnormality of the skeletal system Decreased antibody level in blood Progressive cerebellar ataxia Clonus Premature graying of hair Flared metaphysis Unsteady gait Chromosome breakage Delayed speech and language development Nystagmus Abnormality of the metaphysis Monocytosis Abnormal facial shape Cataract Congenital neutropenia Cardiomyopathy Dystonia Myoclonus Carious teeth Rigidity Small for gestational age Neonatal respiratory distress Abnormality of movement Splenomegaly Aplastic anemia Acute monocytic leukemia Increased antibody level in blood Ventriculomegaly Choreoathetosis Respiratory distress Juvenile myelomonocytic leukemia Acute myelomonocytic leukemia Ichthyosis Specific learning disability Vertical nystagmus Abnormal platelet function Hypoplastic anemia Abnormal macrophage morphology Exocrine pancreatic insufficiency Hepatomegaly Multiple lipomas Short thorax Steatorrhea Decreased liver function Metaphyseal widening Delayed skeletal maturation Coxa vara Microdontia Narrow chest Malabsorption Nephrocalcinosis Type I diabetes mellitus Osteopenia Pectus carinatum Eczema Short ribs Generalized muscle weakness Pulmonary fibrosis Abnormality of neutrophils Excessive wrinkled skin Abnormal leukocyte morphology Pancreatic adenocarcinoma Epiphora Reticular hyperpigmentation Urethral stenosis Lacrimal duct stenosis Keratoconjunctivitis Esophageal stricture Testicular atrophy Pterygium Ridged nail Oral leukoplakia Blepharitis Premature loss of teeth Squamous cell carcinoma Generalized hyperpigmentation Restrictive ventilatory defect Abnormality of coagulation Phimosis Reticulated skin pigmentation Gait imbalance Dysmetria Acute leukemia Hyperactive deep tendon reflexes Impaired vibration sensation in the lower limbs Ankle clonus Aplasia/Hypoplasia of the cerebellum Decreased nerve conduction velocity Incoordination Postural instability Abnormality of the cerebral white matter Brittle scalp hair Babinski sign Anal mucosal leukoplakia Pterygium of nails Split nail Ovoid vertebral bodies Generalized hypopigmentation of hair Fragile teeth Dermal atrophy Distal sensory impairment Joint hyperflexibility Recurrent viral infections Disproportionate short stature Communicating hydrocephalus Generalized joint laxity Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Hip contracture Tibial bowing Dysuria Limited elbow extension Bowel incontinence Short femoral neck Spondyloepiphyseal dysplasia Chronic otitis media Epiphyseal dysplasia Back pain Genu varum Abnormality of pelvic girdle bone morphology Upper airway obstruction Central apnea Disproportionate short-limb short stature Hypopnea 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 Cervical cord compression Obstructive lung disease Abnormality of femur morphology Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Thoracolumbar kyphosis Recurrent ear infections Myelopathy Hypoxemia Multiple epiphyseal dysplasia Cor pulmonale Tinnitus Short long bone Recurrent aphthous stomatitis Narrow sacroiliac notch Severe short stature Obesity Midface retrusion Malar flattening Hydrocephalus Frontal bossing Brachydactyly Hypertension Irregular ossification at anterior rib ends Proximal femoral epiphysiolysis Arthralgia Metaphyseal dysostosis Myocardial necrosis Proximal femoral metaphyseal irregularity Enlargement of the costochondral junction Paroxysmal nocturnal hemoglobinuria Persistence of hemoglobin F Metaphyseal sclerosis Anterior rib cupping Metaphyseal chondrodysplasia Gastroesophageal reflux Conductive hearing impairment Infantile muscular hypotonia Osteoarthritis Sleep apnea Acanthosis nigricans Paraparesis Short toe Rhizomelia Recurrent urinary tract infections Abnormal lung morphology Abnormal form of the vertebral bodies Recurrent otitis media Tetraparesis Cleft lip Epidermal acanthosis Lumbar hyperlordosis Overgrowth Sleep disturbance Oral cleft Confusion Micromelia Scarring Hyperlordosis Apnea Anosmia Pulmonic stenosis Abnormal intestine morphology Lymphopenia Polycystic ovaries Slurred speech Breast carcinoma Cerebral palsy Reduced tendon reflexes Oculomotor apraxia Recurrent pneumonia Abnormality of the hair Abnormal vertebral morphology Athetosis Sinusitis Limb ataxia Bronchiectasis Intention tremor Type II diabetes mellitus Hepatitis Chorea Abnormal cerebellum morphology Spinal muscular atrophy Glucose intolerance Distal amyotrophy Severe combined immunodeficiency Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma Renal neoplasm Recurrent bronchitis Recurrent lower respiratory tract infections Hepatocellular carcinoma Combined immunodeficiency Hypopigmentation of hair IgA deficiency Prematurely aged appearance Abnormality of the immune system Telangiectasia of the skin Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Resting tremor Polyneuropathy Abnormality of eye movement Chronic lymphatic leukemia Cerebral atrophy Attention deficit hyperactivity disorder Abnormal pyramidal sign Developmental regression Neonatal hypotonia Hypothyroidism Respiratory failure Hyperactivity Encephalopathy Dysphagia Increased serum lactate Feeding difficulties Agranulocytosis Tonsillitis Granulocytopenia Thrombocytosis Eosinophilia Meningitis Clumsiness Brain atrophy Aciduria Delayed puberty Cognitive impairment Distal muscle weakness Abnormality of the liver Anxiety Difficulty walking Diabetes mellitus Pneumonia Tremor Skeletal muscle atrophy Muscle weakness Neuronal loss in central nervous system 3-Methylglutaconic aciduria Dysgraphia Upper motor neuron dysfunction Dyslexia Progressive encephalopathy Opisthotonus Progressive neurologic deterioration Abnormality of extrapyramidal motor function Hypoplasia of the thymus Cellular immunodeficiency Sparse eyelashes Curly hair Abnormality of the dentition Hypertonia Optic atrophy Intrauterine growth retardation Visual impairment Long eyebrows Asymmetry of the thorax Broad neck Bilateral ptosis Hyporeflexia Relative macrocephaly Growth hormone deficiency Webbed neck Broad forehead Sparse hair Hypertrophic cardiomyopathy High forehead Hyperkeratosis Hypospadias Alopecia Edema Gastrointestinal hemorrhage Conjunctivitis Horseshoe kidney Hyperpigmentation of the skin Sparse scalp hair Decreased fetal movement Oligohydramnios Cerebral calcification Decreased testicular size Hypopigmentation of the skin Cerebellar hypoplasia Cirrhosis Abnormality of skin pigmentation Nail dystrophy Postnatal growth retardation Muscular hypotonia of the trunk Cerebral cortical atrophy Hyperhidrosis Osteoporosis Abnormal heart morphology Downslanted palpebral fissures Abnormality of chromosome stability Non-Hodgkin lymphoma Narrow mouth Anteverted nares Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Mucosal telangiectasiae Facial hypotonia 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 Neurofibromas Myeloproliferative disorder Myopia Ewing sarcoma Wide nasal bridge Epicanthus Low-set ears Ptosis Sensorineural hearing impairment Hypertelorism Neoplasm of the peripheral nervous system Peripheral neuroepithelioma Primitive neuroectodermal tumor Refractory anemia Burkitt lymphoma Meningioma Leukocytosis Pleural effusion Sarcoma Paraplegia Paralysis Fever Chronic myelomonocytic leukemia Lumbar kyphosis in infancy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Dolichocephaly, related diseases and genetic alterations Depressed nasal bridge and Craniosynostosis, related diseases and genetic alterations High palate and Rhizomelia, related diseases and genetic alterations Cardiomyopathy and Joint hyperflexibility, related diseases and genetic alterations

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