Generalized hypotonia, and Chronic myelogenous leukemia

Diseases related with Generalized hypotonia and Chronic myelogenous leukemia

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


Top matches:

High 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

High match MEVALONIC ACIDURIA


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

Medium 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

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Other less relevant matches:

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 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 CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4


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

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 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1


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

Low match POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME


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

Low match KNOBLOCH 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

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Chronic myelogenous leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Anemia Ataxia Cataract Lymphoma Myeloid leukemia Cerebellar atrophy Strabismus Abnormal facial shape Failure to thrive Motor delay Nystagmus Neoplasm Muscular hypotonia Abnormality of the nervous system Recurrent infections Splenomegaly Cerebral atrophy Microcephaly High forehead Abnormality of the liver Myopia Acute lymphoblastic leukemia Elevated hepatic transaminase Flexion contracture Depressed nasal bridge Scoliosis Ventriculomegaly Growth delay Macrocephaly

Rare Symptoms - Less than 30% cases


Fever Downslanted palpebral fissures Megalencephaly Edema Rigidity Large forehead Congenital cataract Hepatomegaly Pancytopenia Choreoathetosis Hydrocephalus Thrombocytopenia Abnormality of movement Feeding difficulties Narrow face Low-set ears Cafe-au-lait spot Cellular immunodeficiency Encephalopathy Difficulty walking Delayed speech and language development Myoclonus Pain Immunodeficiency Dystonia Hearing impairment Gliosis Progressive cerebellar ataxia Juvenile myelomonocytic leukemia Spasticity Myelodysplasia Arthralgia Severe combined immunodeficiency B-cell lymphoma Joint hyperflexibility Confusion Hypertelorism Aciduria Lymphadenopathy Epicanthus Wide nasal bridge Cardiomyopathy Obesity Combined immunodeficiency Midface retrusion Skin rash Abnormality of the hair Hepatosplenomegaly Facial hypotonia Pulmonic stenosis Acute myeloid leukemia Growth hormone deficiency Sepsis Progressive encephalopathy Hemolytic anemia Hepatic failure Irritability Dysgraphia Coma Jaundice Neuronal loss in central nervous system Hypertriglyceridemia Meningitis Aspiration Hypertonia Peripheral demyelination Tetraplegia Opisthotonus Congenital neutropenia Dyslexia 3-Methylglutaconic aciduria Abnormality of extrapyramidal motor function Progressive neurologic deterioration Upper motor neuron dysfunction Abnormality of the sternum Increased serum lactate Sensorineural hearing impairment Relative macrocephaly Webbed neck Broad forehead Sparse hair Hypertrophic cardiomyopathy Hyperkeratosis Abnormal heart morphology Intellectual disability, mild Ptosis Cryptorchidism Defective B cell differentiation Curly hair IgE deficiency Interosseus muscle atrophy 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 Bilateral ptosis Broad neck Brain atrophy Multiple lentigines Neutropenia Attention deficit hyperactivity disorder Abnormal pyramidal sign Developmental regression Neonatal hypotonia Hypothyroidism Respiratory failure Hyperactivity Dysphagia Abnormal ventricular septum morphology Abnormality of lateral ventricle Abnormal aortic valve morphology Asymmetry of the thorax Heat intolerance Purpura Absent eyebrow Hyperextensible skin Optic nerve hypoplasia Narrow forehead Telecanthus Hyperhidrosis Cerebellar hypoplasia Hypoplasia of the corpus callosum Long eyebrows Hyperbilirubinemia Prolonged prothrombin time Leukopenia Mental deterioration Pachygyria Encephalocele Thin skin High myopia Progressive visual loss Vesicoureteral reflux Retinal detachment Bulbous nose Polymicrogyria Retinal degeneration Nyctalopia Retrognathia Macular degeneration Glaucoma Alopecia Patent ductus arteriosus Visual loss Blindness Visual impairment Hypovolemic shock Hyperplasia of midface Minimal subcutaneous fat Multifocal epileptiform discharges Astrocytosis Horizontal nystagmus Corneal dystrophy Decreased muscle mass Total anomalous pulmonary venous return Bifid ureter Occipital meningocele 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 Pyloric stenosis Anomalous pulmonary venous return Calvarial skull defect Vitreoretinopathy Meningocele Aplasia cutis congenita Occipital encephalocele Absent septum pellucidum Chorioretinal atrophy Cortical dysplasia Dextrocardia Ectopia lentis Thick upper lip vermilion Diabetes insipidus Increased intracranial pressure Acute leukemia Granulocytopenia Increased total bilirubin Partial albinism Increased LDL cholesterol concentration Hemophagocytosis Histiocytosis Elevated alpha-fetoprotein Decreased HDL cholesterol concentration Generalized edema Prolonged partial thromboplastin time Hypoproteinemia Increased serum ferritin Increased VLDL cholesterol concentration Increased CSF protein Pulmonary infiltrates Episodic fever Increased antibody level in blood Abnormality of the coagulation cascade Albinism Hyponatremia Hemiplegia Hypoalbuminemia Encephalitis Eosinophilia T-cell lymphoma Hypofibrinogenemia Focal impaired awareness seizure Inability to walk Tented upper lip vermilion Drooling Shock Nephrocalcinosis Increased body weight Open mouth Thick lower lip vermilion Status epilepticus Focal-onset seizure Premature birth Highly arched eyebrow Long face CSF pleocytosis Severe global developmental delay Abnormal cardiac septum morphology Wide mouth Joint laxity Polyhydramnios Absent speech Congestive heart failure Atrial septal defect Abnormal natural killer cell physiology Lipogranulomatosis Plasmacytosis Polyneuritis Decreased proportion of CD4-positive T cells Cerebral palsy Abnormal spermatogenesis 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 Central apnea Hypopnea Dysuria Upper airway obstruction Communicating hydrocephalus Generalized joint laxity Osteopetrosis Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Hip contracture Obstructive lung disease Cervical cord compression Disproportionate short stature Diarrhea Dolichocephaly Low-set, posteriorly rotated ears Hypoglycemia Kyphoscoliosis Acidosis Cerebral cortical atrophy Abdominal pain Posteriorly rotated ears Delayed skeletal maturation Elevated serum creatine phosphokinase Vomiting Iritis Myopathy Optic atrophy 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 Neuroblastoma Tibial bowing Lactic acidosis Cleft lip Epidermal acanthosis Lumbar hyperlordosis Overgrowth Otitis media Sleep disturbance Oral cleft Micromelia Scarring Hyperlordosis Apnea Conductive hearing impairment Osteoarthritis Skeletal dysplasia Gastroesophageal reflux Weight loss Severe short stature Malar flattening Abnormality of the skeletal system Frontal bossing Brachydactyly Hyperreflexia Hypertension Tetraparesis Recurrent otitis media Limited elbow extension Disproportionate short-limb short stature Bowel incontinence Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Chronic otitis media Epiphyseal dysplasia Back pain Genu varum Abnormality of pelvic girdle bone morphology Tinnitus Short long bone Abnormal form of the vertebral bodies Infantile muscular hypotonia Sleep apnea Acanthosis nigricans Paraparesis Clonus Short toe Rhizomelia Recurrent urinary tract infections Abnormal lung morphology Abnormality of the metaphysis Malabsorption Retinal dystrophy Neoplasm of the breast Sinusitis Polycystic ovaries Slurred speech Breast carcinoma Reduced tendon reflexes Oculomotor apraxia Recurrent pneumonia Truncal ataxia Lymphopenia Abnormal vertebral morphology Limb ataxia Athetosis Bronchiectasis Telangiectasia Intention tremor Type II diabetes mellitus Apraxia Hepatitis Decreased antibody level in blood Chorea Abnormal cerebellum morphology Polyneuropathy Spinal muscular atrophy Glucose intolerance Unsteady gait Chromosome breakage Conjunctival telangiectasia Abnormality of chromosome stability Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder Abnormality of the testis Renal neoplasm Recurrent bronchitis Recurrent lower respiratory tract infections Premature graying of hair Hepatocellular carcinoma Hypopigmentation of hair Hodgkin lymphoma 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 Distal amyotrophy Abnormality of eye movement Metabolic acidosis Cholestatic liver disease Fluctuating splenomegaly Fluctuating hepatomegaly Morbilliform rash Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Hypoplastic anemia Normocytic anemia Extramedullary hematopoiesis Agenesis of cerebellar vermis Organic aciduria Anteverted nares Nuclear cataract Severe failure to thrive Petechiae Leukocytosis Large fontanelles Clumsiness Blue sclerae Underdeveloped nasal alae Nevus Triangular face Normocytic hypoplastic anemia Narrow mouth Delayed puberty Tremor Neurological speech impairment Distal muscle weakness Respiratory tract infection Anxiety Carcinoma Gait ataxia Diabetes mellitus Recurrent respiratory infections Pneumonia Gait disturbance Skeletal muscle atrophy Neurofibromas Dysarthria Peripheral neuropathy Cognitive impairment Muscle weakness Chronic myelomonocytic leukemia Acute myelomonocytic leukemia Monocytosis Refractory anemia Myeloproliferative disorder Acute monocytic leukemia Cephalocele



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