Generalized hypotonia, and Myeloid leukemia

Diseases related with Generalized hypotonia and Myeloid leukemia

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Myeloid 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

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

Other less relevant matches:

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

Medium 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

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

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

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

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

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Myeloid leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Neoplasm

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Failure to thrive Anemia Sepsis Depressed nasal bridge Cryptorchidism Muscular hypotonia Abnormal facial shape Seizures Strabismus Delayed speech and language development Myelodysplasia Thrombocytopenia Lymphoma Scoliosis Acute myeloid leukemia Hepatosplenomegaly Microcephaly Ataxia Ventriculomegaly Growth hormone deficiency Recurrent infections Cataract Feeding difficulties High forehead Leukopenia Pancytopenia Gliosis Carious teeth Immunodeficiency Respiratory distress Pulmonic stenosis Hypertension Myopia Cardiomyopathy Macrocephaly Juvenile myelomonocytic leukemia Abnormality of the nervous system Epicanthus Edema Intellectual disability, mild Splenomegaly Hearing impairment

Rare Symptoms - Less than 30% cases

Cor pulmonale Specific learning disability Confusion B-cell lymphoma Small for gestational age Pectus carinatum Respiratory tract infection Increased antibody level in blood Weight loss Elevated hepatic transaminase Bone marrow hypocellularity Narrow forehead Osteopenia Sleep disturbance Hypopnea Albinism Abnormality of the skeletal system Gait disturbance Hepatomegaly Sleep apnea Abnormality of the metaphysis Aplastic anemia Flared metaphysis Hypertonia Obesity Hyporeflexia Cerebellar hypoplasia Frontal bossing Osteoporosis Hyperhidrosis Abnormality of the dentition Pain Postnatal growth retardation Fever Neonatal respiratory distress Hypopigmentation of the skin Optic atrophy Apnea Gastrointestinal hemorrhage Nystagmus Oligohydramnios Intrauterine growth retardation Decreased fetal movement Gastroesophageal reflux Hyperpigmentation of the skin Infantile muscular hypotonia Skeletal dysplasia Bilateral ptosis Monocytosis Neonatal hypotonia Acute monocytic leukemia Rigidity Prominent forehead Respiratory failure Hyperactivity Encephalopathy Flexion contracture Cognitive impairment Myopathy Hypermetropia Hip dysplasia Cafe-au-lait spot Webbed neck Broad forehead Hypertelorism Sparse hair Ptosis Esotropia Low-set ears Facial hypotonia Aortic valve stenosis Downslanted palpebral fissures Neutropenia Chromosome breakage Decreased muscle mass Poor suck Attention deficit hyperactivity disorder Anteverted nares Narrow mouth Bicuspid aortic valve Failure to thrive in infancy Dilatation Highly arched eyebrow Syndactyly Ascites Small hand Short nose Clinodactyly Short foot Tapered finger Full cheeks Febrile seizures Triangular face Amenorrhea Thick vermilion border Pruritus Downturned corners of mouth Photophobia Genu valgum Infertility Dolichocephaly Stroke Abnormality of the pinna Arachnodactyly Hypoglycemia Bruising susceptibility Recurrent respiratory infections Polymicrogyria Thin upper lip vermilion Autism Micropenis Diabetes mellitus Hypogonadism Upslanted palpebral fissure Delayed puberty Short palm Abnormal eyebrow morphology Abnormal bleeding Torticollis Arteritis Pulmonary lymphangiectasia Broad toe Bilateral single transverse palmar creases Vasculitis Prominent fingertip pads Chylothorax Hypochromic microcytic anemia Abnormality of the spleen Reduced factor IX activity Deep philtrum Short attention span Cholelithiasis Pleural effusion Abnormality of the thorax Cubitus valgus Hydrocele testis Overfolded helix Proximal placement of thumb Abnormality of the mediastinum Hypoplasia of olfactory tract Kyphosis Low posterior hairline Wide intermamillary distance Behavioral abnormality Neurodevelopmental delay Cyanosis Congestive heart failure Epistaxis Vomiting Intellectual disability, severe Talipes equinovarus Reduced factor XII activity High palate Fine hair Micrognathia Mitral regurgitation Lymphedema Hydrops fetalis Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Abnormality of the cardiovascular system Ocular albinism Type II diabetes mellitus Hepatic failure Encephalitis Eosinophilia Increased intracranial pressure Purpura Hyperbilirubinemia Meningitis Aspiration Hypertriglyceridemia Peripheral demyelination Tetraplegia Coma Hemolytic anemia Lymphadenopathy Hemiplegia Skin rash Abnormality of the liver Irritability Jaundice Abnormal ventricular septum morphology Abnormality of lateral ventricle Multiple lentigines Abnormal aortic valve morphology Heat intolerance Acute lymphoblastic leukemia Abnormality of the sternum Absent eyebrow Hypoalbuminemia Hyponatremia Optic nerve hypoplasia Histiocytosis Lipogranulomatosis Plasmacytosis Polyneuritis CSF pleocytosis Hypofibrinogenemia Increased VLDL cholesterol concentration T-cell lymphoma Granulocytopenia Increased total bilirubin Partial albinism Increased LDL cholesterol concentration Hemophagocytosis Cellular immunodeficiency Abnormality of the coagulation cascade Prolonged prothrombin time Decreased HDL cholesterol concentration Generalized edema Prolonged partial thromboplastin time Hypoproteinemia Acute leukemia Increased serum ferritin Increased CSF protein Pulmonary infiltrates Severe combined immunodeficiency Episodic fever Combined immunodeficiency Hyperextensible skin Congenital cataract Psychosis Radial deviation of finger Striae distensae Impaired pain sensation Narrow nasal bridge Polyphagia External genital hypoplasia Truncal obesity Adrenal insufficiency Skeletal muscle hypertrophy Glucose intolerance Inflammation of the large intestine Large hands Emotional lability Hyperinsulinemia Hypopigmentation of hair Precocious puberty Nasal speech Scrotal hypoplasia Narrow palpebral fissure Spontaneous abortion Hypogonadotrophic hypogonadism Increased body weight Bradycardia Insulin resistance Clumsiness Primary amenorrhea Cutaneous photosensitivity Pulmonary embolism Hypoventilation Telecanthus Frontal upsweep of hair Hypoplasia of the corpus callosum Acromicria Poor gross motor coordination Almond-shaped palpebral fissure Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Temperature instability Triangular mouth Disseminated intravascular coagulation Erysipelas Clitoral hypoplasia Iris hypopigmentation Anteverted ears Poor fine motor coordination Abdominal obesity Generalized hypopigmentation Hypothermia Joint hypermobility Hypoplasia of the fovea Acrocyanosis Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Falls Telangiectasia Astigmatism Paroxysmal nocturnal hemoglobinuria Hydrocephalus Brachydactyly Hyperreflexia Irregular ossification at anterior rib ends Narrow sacroiliac notch Proximal femoral epiphysiolysis Metaphyseal dysostosis Myocardial necrosis Proximal femoral metaphyseal irregularity Enlargement of the costochondral junction Persistence of hemoglobin F Midface retrusion Metaphyseal sclerosis Anterior rib cupping Metaphyseal chondrodysplasia Recurrent aphthous stomatitis Recurrent viral infections Ovoid vertebral bodies Exocrine pancreatic insufficiency Multiple lipomas Steatorrhea Short thorax Malar flattening Severe short stature Coxa vara Osteoarthritis Short long bone Acanthosis nigricans Paraparesis Clonus Short toe Rhizomelia Recurrent urinary tract infections Abnormal lung morphology Abnormal form of the vertebral bodies Recurrent otitis media Tetraparesis Arthralgia Epidermal acanthosis Lumbar hyperlordosis Overgrowth Otitis media Oral cleft Micromelia Joint hyperflexibility Scarring Hyperlordosis Cleft lip Conductive hearing impairment Metaphyseal widening Recurrent bacterial infections Tinnitus Broad neck Developmental regression Hypothyroidism Myoclonus Cerebral atrophy Dystonia Cerebellar atrophy Dysphagia Spasticity Long eyebrows Asymmetry of the thorax Curly hair Abnormality of movement Relative macrocephaly Hypertrophic cardiomyopathy Hyperkeratosis Abnormal heart morphology Wide nasal bridge Sensorineural hearing impairment Chronic myelomonocytic leukemia Acute myelomonocytic leukemia Refractory anemia Myeloproliferative disorder Neurofibromas Abnormal pyramidal sign Brain atrophy Nephrocalcinosis Delayed skeletal maturation Type I diabetes mellitus Short ribs Decreased liver function Apraxia Eczema Microdontia Generalized muscle weakness Ichthyosis Narrow chest Malabsorption Congenital neutropenia Increased serum lactate 3-Methylglutaconic aciduria Dysgraphia Upper motor neuron dysfunction Dyslexia Progressive encephalopathy Opisthotonus Choreoathetosis Progressive neurologic deterioration Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Aciduria Disproportionate short-limb short stature Abnormality of pelvic girdle bone morphology Abnormality of the foot Premature graying of hair Excessive wrinkled skin Testicular atrophy Ridged nail Oral leukoplakia Blepharitis Premature loss of teeth Hodgkin lymphoma Generalized hyperpigmentation Restrictive ventilatory defect Abnormality of coagulation Pulmonary fibrosis Keratoconjunctivitis Squamous cell carcinoma Epiphora Pterygium Dermal atrophy Anosmia Abnormal intestine morphology Sparse eyelashes Conjunctivitis Horseshoe kidney Truncal ataxia Sparse scalp hair Esophageal stricture Lacrimal duct stenosis Decreased testicular size Atrial septal defect Feeding difficulties in infancy Low-set, posteriorly rotated ears Joint laxity Macrotia Polyhydramnios Posteriorly rotated ears Inguinal hernia Pectus excavatum Abnormality of cardiovascular system morphology Long philtrum Short neck Urethral stenosis Anal mucosal leukoplakia Pterygium of nails Split nail Generalized hypopigmentation of hair Fragile teeth Brittle scalp hair Reticulated skin pigmentation Phimosis Abnormal leukocyte morphology Pancreatic adenocarcinoma Reticular hyperpigmentation Cerebral calcification Cirrhosis Genu varum Abnormality of the elbow Abnormality of femur morphology Central apnea Dysuria Upper airway obstruction Communicating hydrocephalus Generalized joint laxity Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Spinal canal stenosis Hypoxemia Hip contracture Neuroblastoma Disproportionate short stature Tibial bowing Limited elbow extension Bowel incontinence Short femoral neck Spondyloepiphyseal dysplasia Chronic otitis media Epiphyseal dysplasia Back pain Multiple epiphyseal dysplasia Myelopathy Abnormality of skin pigmentation Trident hand Nail dystrophy Muscular hypotonia of the trunk Carcinoma Cerebral cortical atrophy Alopecia Hypospadias Visual impairment Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Limited hip extension Recurrent ear infections Brain stem compression Childhood onset short-limb short stature Small foramen magnum Iritis Cervical cord compression Obstructive lung disease Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Chronic myelogenous leukemia Thoracolumbar kyphosis Abnormal natural killer cell physiology


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Dolichocephaly, related diseases and genetic alterations Abnormality of the skeletal system and Hodgkin lymphoma, related diseases and genetic alterations Intellectual disability, severe and Microphthalmia, related diseases and genetic alterations Hepatomegaly and Mitral valve prolapse, related diseases and genetic alterations Hyperreflexia and Glioma, related diseases and genetic alterations