Generalized hypotonia, and Leukemia

Diseases related with Generalized hypotonia and Leukemia

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

Top matches:

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

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4

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

Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME Is also known as pmse syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME

Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

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

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Leukemia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Abnormal facial shape Failure to thrive Anemia Ataxia Motor delay Low-set ears Strabismus Neoplasm Nystagmus Thrombocytopenia Cerebral atrophy Hepatomegaly Elevated hepatic transaminase Cerebellar atrophy Recurrent infections Edema Downslanted palpebral fissures Myopia Scoliosis High forehead Feeding difficulties Acute myeloid leukemia Splenomegaly Myelodysplasia Hypertelorism Growth delay Myeloid leukemia

Rare Symptoms - Less than 30% cases

Delayed skeletal maturation Acute monocytic leukemia Narrow face Abnormality of the nervous system Facial hypotonia Hepatosplenomegaly Congenital cataract Lymphoma Myopathy Immunodeficiency Large forehead Large fontanelles Acute lymphoblastic leukemia Neutropenia Dysphagia Fever Gliosis Nephrocalcinosis Microcephaly Generalized muscle weakness Polyhydramnios Malabsorption Juvenile myelomonocytic leukemia Pancytopenia Cryptorchidism Depressed nasal bridge Epicanthus Wide nasal bridge Neonatal hypotonia Macrocephaly Cardiomyopathy Intellectual disability, mild Ventriculomegaly Flexion contracture Inability to walk Sepsis Pulmonic stenosis Growth hormone deficiency Encephalopathy Leukopenia Lymphadenopathy Aciduria Skin rash Abnormality of the liver Foot dorsiflexor weakness Respiratory insufficiency due to muscle weakness Adducted thumb Hydrops fetalis EMG: myopathic abnormalities Myopathic facies Pterygium Fetal akinesia sequence Calf muscle pseudohypertrophy Multiple pterygia Hand clenching Neck flexor weakness Abnormality of the rib cage Slender build Type 1 muscle fiber predominance Nemaline bodies EMG: neuropathic changes Congenital contracture Cystic hygroma Spinal rigidity Bulbar palsy Pericardial effusion Mildly elevated creatine phosphokinase Multiple joint contractures Rocker bottom foot Akinesia Frequent falls Proximal muscle weakness Decreased fetal movement Total anomalous pulmonary venous return Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Abnormal vitreous humor morphology Phthisis bulbi Lymphangioma Band keratopathy Lens luxation Macular hypoplasia Aplasia cutis congenita of scalp Bifid ureter Anomalous pulmonary venous return Calvarial skull defect Vitreoretinopathy Meningocele Aplasia cutis congenita Occipital encephalocele Absent septum pellucidum Chorioretinal atrophy Cortical dysplasia Occipital meningocele Cephalocele Waddling gait Facial palsy Falls Talipes Limb muscle weakness Arthrogryposis multiplex congenita Muscular dystrophy Distal muscle weakness Hyperlordosis Abnormality of the eye Apnea Transient myeloproliferative syndrome Muscle weakness Micropenis Hyporeflexia Areflexia Hypospadias Long philtrum Respiratory insufficiency Talipes equinovarus Dysarthria High palate Cleft palate Severe hydrops fetalis Type I diabetes mellitus Mitochondrial depletion Acidosis Metabolic acidosis Retinal dystrophy Lactic acidosis Dolichocephaly Low-set, posteriorly rotated ears Hypoglycemia Arthralgia Kyphoscoliosis Cerebral cortical atrophy Progressive cerebellar ataxia Abdominal pain Posteriorly rotated ears Elevated serum creatine phosphokinase Obesity Diarrhea Vomiting Optic atrophy Pain Triangular face Nevus Narrow sacroiliac notch Extramedullary hematopoiesis Fluctuating splenomegaly Fluctuating hepatomegaly Morbilliform rash Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Hypoplastic anemia Normocytic anemia Agenesis of cerebellar vermis Underdeveloped nasal alae Cholestatic liver disease Organic aciduria Nuclear cataract Severe failure to thrive Petechiae Leukocytosis Clumsiness Blue sclerae Irregular ossification at anterior rib ends Proximal femoral epiphysiolysis Late-onset distal muscle weakness Carious teeth Short ribs Decreased liver function Abnormality of the metaphysis Apraxia Eczema Microdontia Specific learning disability Ichthyosis Narrow chest Ectopia lentis Small for gestational age Pectus carinatum Respiratory tract infection Skeletal dysplasia Osteopenia Respiratory distress Abnormality of the skeletal system Gait disturbance Bone marrow hypocellularity Recurrent bacterial infections Metaphyseal dysostosis Recurrent aphthous stomatitis 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 Recurrent viral infections Coxa vara Aplastic anemia Ovoid vertebral bodies Exocrine pancreatic insufficiency Multiple lipomas Steatorrhea Short thorax Neonatal respiratory distress Metaphyseal widening Dextrocardia Diabetes insipidus Pyloric stenosis Increased serum lactate Dyslexia Progressive encephalopathy Opisthotonus Choreoathetosis Progressive neurologic deterioration Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Brain atrophy Dysgraphia Abnormality of movement Attention deficit hyperactivity disorder Abnormal pyramidal sign Developmental regression Rigidity Hypothyroidism Respiratory failure Hyperactivity Upper motor neuron dysfunction 3-Methylglutaconic aciduria Dystonia Hypertriglyceridemia Encephalitis Eosinophilia Increased intracranial pressure Purpura Hyperbilirubinemia Meningitis Aspiration Peripheral demyelination Congenital neutropenia Tetraplegia Coma Hemolytic anemia Hepatic failure Confusion Irritability Jaundice Hypertonia Myoclonus Spasticity Hemiplegia Sensorineural hearing impairment Broad forehead Sparse hair Hypertrophic cardiomyopathy Hyperkeratosis Abnormal heart morphology Delayed speech and language development Ptosis Hearing impairment Cafe-au-lait spot Chronic myelomonocytic leukemia Acute myelomonocytic leukemia Monocytosis Refractory anemia Myeloproliferative disorder Neurofibromas Narrow mouth Anteverted nares Webbed neck Relative macrocephaly Abnormal ventricular septum morphology Optic nerve hypoplasia Abnormality of lateral ventricle Multiple lentigines Abnormal aortic valve morphology B-cell lymphoma Heat intolerance Abnormality of the sternum Absent eyebrow Hyperextensible skin Narrow forehead Bilateral ptosis Telecanthus Hyperhidrosis Cerebellar hypoplasia Hypoplasia of the corpus callosum Long eyebrows Asymmetry of the thorax Broad neck Curly hair Hypoalbuminemia Hyponatremia Corneal dystrophy Astrocytosis Blindness Hydrocephalus Visual impairment Hypovolemic shock Hyperplasia of midface Minimal subcutaneous fat Multifocal epileptiform discharges Thick upper lip vermilion Visual loss Megalencephaly Decreased muscle mass Focal impaired awareness seizure Tented upper lip vermilion Drooling Shock Increased body weight Open mouth Midface retrusion Patent ductus arteriosus Status epilepticus Vesicoureteral reflux Macular degeneration Horizontal nystagmus Abnormality of the hair Pachygyria Encephalocele Thin skin High myopia Progressive visual loss Retinal detachment Alopecia Bulbous nose Polymicrogyria Retinal degeneration Joint hyperflexibility Nyctalopia Mental deterioration Retrognathia Glaucoma Thick lower lip vermilion Focal-onset seizure Albinism Hypoproteinemia Hemophagocytosis Histiocytosis Cellular immunodeficiency Prolonged prothrombin time Decreased HDL cholesterol concentration Generalized edema Prolonged partial thromboplastin time Acute leukemia Partial albinism Increased serum ferritin Increased CSF protein Pulmonary infiltrates Severe combined immunodeficiency Episodic fever Increased antibody level in blood Combined immunodeficiency Abnormality of the coagulation cascade Increased LDL cholesterol concentration Increased total bilirubin Premature birth Congestive heart failure Highly arched eyebrow Long face Severe global developmental delay Abnormal cardiac septum morphology Wide mouth Joint laxity Difficulty walking Absent speech Atrial septal defect Granulocytopenia Abnormal natural killer cell physiology Lipogranulomatosis Plasmacytosis Polyneuritis CSF pleocytosis Hypofibrinogenemia Increased VLDL cholesterol concentration T-cell lymphoma Normocytic hypoplastic anemia


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