Ataxia, and Acute lymphoblastic leukemia

Diseases related with Ataxia and Acute lymphoblastic leukemia

In the following list you will find some of the most common rare diseases related to Ataxia and Acute lymphoblastic 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 DE SANCTIS-CACCHIONE SYNDROME


A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DE SANCTIS-CACCHIONE 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

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Other less relevant matches:

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

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

Low 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

Low match SOTOS SYNDROME 1; SOTOS1


SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

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 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

Top 5 symptoms//phenotypes associated to Ataxia and Acute lymphoblastic leukemia

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

Patients with Ataxia and Acute lymphoblastic leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Spasticity Neoplasm Abnormality of the nervous system Generalized hypotonia Myeloid leukemia Nystagmus Scoliosis Abnormal facial shape Lymphoma Telangiectasia Strabismus Depressed nasal bridge Retrognathia Abnormality of the hair Gliosis Immunodeficiency Thrombocytopenia Recurrent respiratory infections Macrotia Mental deterioration Combined immunodeficiency Acute leukemia Anemia Flexion contracture Dysarthria Recurrent infections Pancytopenia Choreoathetosis Neonatal hypotonia Otitis media Neutropenia Acute myeloid leukemia Myelodysplasia Hearing impairment

Rare Symptoms - Less than 30% cases


Sloping forehead Amenorrhea Decreased antibody level in blood Bone marrow hypocellularity Respiratory failure Hemolytic anemia Apraxia Motor delay Attention deficit hyperactivity disorder Abnormal vertebral morphology Eosinophilia Splenomegaly Pneumonia Hyperactivity Progressive cerebellar ataxia Leukopenia Increased antibody level in blood Sacrococcygeal teratoma Skeletal muscle atrophy Slurred speech Muscle weakness Micrognathia Growth delay Short stature Teratoma Hyperreflexia Joint laxity Severe combined immunodeficiency Jaundice Failure to thrive Sepsis T-cell lymphoma Hepatosplenomegaly Gait disturbance Dystonia Peripheral neuropathy Myoclonus Abnormality of chromosome stability Gait ataxia B-cell lymphoma Recurrent bronchitis Clumsiness Bronchiectasis Elevated hepatic transaminase Carcinoma Cutaneous photosensitivity Respiratory tract infection Abnormality of the liver Neurological speech impairment Meningitis Abnormality of movement Unsteady gait Recurrent pneumonia Lymphopenia Sinusitis Cafe-au-lait spot Encephalopathy Neuroblastoma Delayed speech and language development Absent septum pellucidum Granulocytopenia Narrow face Epicanthus Ventriculomegaly Cryptorchidism Muscular hypotonia Large hands Cellular immunodeficiency Cataract Macrocephaly Downslanted palpebral fissures Hypertelorism Hypertonia Behavioral abnormality Vesicoureteral reflux Pachygyria Overgrowth Cerebral atrophy Increased sensitivity to ionizing radiation Cutis laxa Accelerated skeletal maturation Tall stature Lymphedema Prominent forehead Pointed chin Mandibular prognathia Patent ductus arteriosus Congenital neutropenia Progressive neurologic deterioration Ventricular septal defect Atrial septal defect Large earlobe Abnormal heart morphology Talipes Abnormality of the kidney Abnormality of the pinna Sparse hair Aggressive behavior Broad forehead Platyspondyly Round face Broad thumb Nail dysplasia Conductive hearing impairment Fine hair Hypertrichosis Pes planus Optic atrophy Coarse facial features Frontal bossing High palate Joint contracture of the hand Thin nail Horizontal eyebrow Down-sloping shoulders Dolichocephaly Short fourth metatarsal Prominent fingertip pads Galactorrhea Diastasis recti Thoracolumbar kyphosis Inverted nipples Calcaneovalgus deformity Hypoplastic iliac wing Poor fine motor coordination Dimple chin Hydrocele testis Broad philtrum Dilation of lateral ventricles Prolactin excess Secondary amenorrhea Hoarse voice Radial deviation of finger Short ribs Coxa valga Broad face Back pain Dysharmonic bone age Flared humeral metaphysis Abnormally low-pitched voice Flat occiput Deep-set nails Metatarsus adductus Limited knee extension Overlapping toe Large for gestational age Bilateral talipes equinovarus Flared femoral metaphysis Lumbar kyphosis Limited elbow extension Vertebral wedging Hemophagocytosis Hypermetropia Dysgraphia Peripheral demyelination Tetraplegia Coma Hepatic failure Lymphadenopathy Confusion Skin rash Irritability Fever Hepatomegaly 3-Methylglutaconic aciduria Upper motor neuron dysfunction Aspiration Dyslexia Progressive encephalopathy Opisthotonus Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Aciduria Increased serum lactate Brain atrophy Abnormal pyramidal sign Developmental regression Rigidity Hypertriglyceridemia Hyperbilirubinemia Cardiomyopathy Episodic fever Increased LDL cholesterol concentration Partial albinism Histiocytosis Prolonged prothrombin time Decreased HDL cholesterol concentration Generalized edema Prolonged partial thromboplastin time Hypoproteinemia Increased serum ferritin Increased CSF protein Pulmonary infiltrates Increased total bilirubin Purpura Increased VLDL cholesterol concentration Hypofibrinogenemia CSF pleocytosis Abnormality of the coagulation cascade Polyneuritis Albinism Hyponatremia Hemiplegia Hypoalbuminemia Encephalitis Increased intracranial pressure Hypothyroidism Dysphagia Genu valgum Nephroblastoma Periventricular leukomalacia Oxycephaly Cavum septum pellucidum Advanced eruption of teeth Long foot Enlarged cisterna magna High anterior hairline Poor coordination Prolonged neonatal jaundice Partial agenesis of the corpus callosum Agenesis of permanent teeth Precocious puberty Overbite Redundant skin Reduced number of teeth Abnormal dermatoglyphics Narrow palate Hypoplasia of dental enamel Heterotopia Small nail Renal agenesis Hypodontia High, narrow palate Joint hypermobility Abnormal glucose tolerance Hamartomatous polyposis Feeding difficulties Aplasia/Hypoplasia of the cerebellum Abnormal macrophage morphology Acute myelomonocytic leukemia Hypoplastic anemia Abnormal platelet function Vertical nystagmus Abnormality of neutrophils Gait imbalance Hyperactive deep tendon reflexes Plasmacytosis Impaired vibration sensation in the lower limbs Ankle clonus Decreased nerve conduction velocity Expressive language delay Incoordination Clonus Lipogranulomatosis Postural instability Distal sensory impairment Dysmetria Abnormality of the cerebral white matter Babinski sign Abnormality of the cerebral ventricles Small cell lung carcinoma Gray matter heterotopias Hyperplasia of the maxilla Abnormality of the immune system Camptodactyly Band keratopathy Cephalocele Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Abnormal vitreous humor morphology Phthisis bulbi Lymphangioma Lens luxation Intrauterine growth retardation Macular hypoplasia Total anomalous pulmonary venous return Aplasia cutis congenita of scalp Anomalous pulmonary venous return Large forehead Calvarial skull defect Vitreoretinopathy Meningocele Aplasia cutis congenita Cleft palate Short neck Chorioretinal atrophy Prominent nose Deep philtrum Cachexia Low anterior hairline Chronic diarrhea Recurrent urinary tract infections Abnormality of the face Choanal atresia Primary amenorrhea Convex nasal ridge Neurodegeneration Respiratory insufficiency Cleft upper lip Anal atresia Small for gestational age Prominent nasal bridge Intellectual disability, moderate Hydronephrosis Upslanted palpebral fissure Hypospadias Diarrhea Occipital encephalocele Cortical dysplasia Abnormality of neuronal migration Conjunctivitis Gonadal hypoplasia Defective DNA repair after ultraviolet radiation damage Entropion Olivopontocerebellar atrophy Poikiloderma Keratitis Ectropion Dermal atrophy Melanoma Photophobia Myopia Severe short stature Hyporeflexia Areflexia Sensorineural hearing impairment Agranulocytosis Tonsillitis Monocytosis Thrombocytosis Recurrent bacterial infections Visual impairment Hydrocephalus Dextrocardia Retinal detachment Ectopia lentis Pyloric stenosis Corneal dystrophy Macular degeneration Horizontal nystagmus Encephalocele Thin skin High myopia Progressive visual loss Bulbous nose Blindness Polymicrogyria Retinal degeneration Joint hyperflexibility Congenital cataract Nyctalopia Glaucoma Alopecia Visual loss Midface retrusion Premature ovarian insufficiency Non-midline cleft lip Umbilical hernia Renal neoplasm Neoplasm of the breast Chronic myelogenous leukemia Conjunctival telangiectasia Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder Abnormality of the testis Chromosome breakage Elevated alpha-fetoprotein Recurrent lower respiratory tract infections Hepatocellular carcinoma Hypopigmentation of hair Hodgkin lymphoma IgA deficiency Prematurely aged appearance Telangiectasia of the skin Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Abnormal spermatogenesis Decreased proportion of CD4-positive T cells Premature graying of hair Pain Hyperhidrosis Pes cavus Delayed skeletal maturation Inguinal hernia Clinodactyly Hernia Long philtrum Kyphosis Talipes equinovarus Defective B cell differentiation Chronic hepatitis 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 Female hypogonadism Resting tremor Glucose intolerance Long nose Abnormal hair quantity Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract Pollakisuria B lymphocytopenia Decrease in T cell count Rhabdomyosarcoma Cognitive impairment Glioma Medulloblastoma Recurrent sinopulmonary infections Abnormal eyelid morphology Hearing abnormality Anal stenosis Autoimmune hemolytic anemia Abnormality of the musculature Freckling Progressive vitiligo Tremor Athetosis Type II diabetes mellitus Spinal muscular atrophy Polycystic ovaries Breast carcinoma Cerebral palsy Reduced tendon reflexes Oculomotor apraxia Truncal ataxia Limb ataxia Intention tremor Hepatitis Diabetes mellitus Chorea Abnormal cerebellum morphology Polyneuropathy Distal amyotrophy Abnormality of eye movement Delayed puberty Distal muscle weakness Anxiety Difficulty walking Abnormal natural killer cell physiology



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