Intellectual disability, and Neutropenia

Diseases related with Intellectual disability and Neutropenia

In the following list you will find some of the most common rare diseases related to Intellectual disability and Neutropenia that can help you solving undiagnosed cases.

Top matches:

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms).

ALPHA-THALASSEMIA-MYELODYSPLASTIC SYNDROME Is also known as acquired hbh disease|acquired hemoglobin h disease|atmds|hemoglobin h disease, acquired

Related symptoms:

  • Intellectual disability
  • Anemia
  • Fatigue
  • Splenomegaly
  • Immunodeficiency


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-MYELODYSPLASTIC SYNDROME

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

Other less relevant matches:

3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.

3-METHYLGLUTACONIC ACIDURIA TYPE 3 Is also known as optic atrophy, infantile, with chorea and spastic paraplegia|mga3|iraqi-jewish 'optic atrophy plus'|opa3, autosomal recessive|costeff syndrome|autosomal recessive optic atrophy type 3|optic atrophy 3, autosomal recessive|optic atrophy plus syndrome|autoso

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 3

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblB and cblA (OMIM ). The cblA type is caused by mutation in the MMAA gene (OMIM ). The 'mut' type (OMIM ) is caused by mutation in the MUT gene; in general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB Is also known as vitamin b12-responsive methylmalonic aciduria, type cblb|methylmalonic acidemia, cblb type|methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB

Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.

TRANSCOBALAMIN DEFICIENCY Is also known as transcobalamin ii deficiency|inherited deficiency of transcobalamin|tc ii deficiency|tcn2 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSCOBALAMIN DEFICIENCY

Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001).

GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA Is also known as 5-oxoprolinuria|pyroglutamic aciduria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Top 5 symptoms//phenotypes associated to Intellectual disability and Neutropenia

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability and Neutropenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Aciduria Lethargy Respiratory distress Muscular hypotonia Generalized hypotonia Failure to thrive Spasticity Dysarthria Feeding difficulties Vomiting Acidosis Pancytopenia Splenomegaly Methylmalonic aciduria Immunodeficiency Optic atrophy Choreoathetosis Sepsis Coma Hyperammonemia Hepatomegaly

Rare Symptoms - Less than 30% cases

Homocystinuria Congenital neutropenia Agranulocytosis Delayed speech and language development Visual impairment Hyperreflexia Stomatitis Cardiomyopathy Abnormality of movement Megaloblastic anemia Thin upper lip vermilion Macrocytic anemia Recurrent infections Decreased adenosylcobalamin Feeding difficulties in infancy Metabolic acidosis Dehydration Methylmalonic acidemia Recurrent bacterial infections Granulocytopenia Nystagmus Megaloblastic bone marrow Renal insufficiency Fatigue Pancreatitis Chorea Nausea and vomiting Myelodysplasia Abnormality of the nervous system Abnormal bleeding Dystonia Pigmentary retinopathy Abdominal pain Glossitis Hyperhomocystinemia Strabismus Hypertelorism Anorexia Tremor Decreased methylcobalamin Decreased methionine synthase activity Stroke Hypertonia Nausea Increased level of L-pyroglutamic acid in urine Intention tremor Psychotic mentation Glutathione synthetase deficiency Cystathioninuria Chronic metabolic acidosis Increased reactive oxygen species production Renal tubular acidosis Falls Spastic tetraparesis Progressive neurologic deterioration Hemolytic anemia Tetraparesis Compensated hemolytic anemia Delayed ability to walk Juvenile rheumatoid arthritis Downturned corners of mouth Arthritis Abnormal heart morphology Synophrys Epicanthus Astigmatism High palate Generalized myoclonic seizures Developmental regression Low-set ears Enlarged cisterna magna Epileptic encephalopathy Hypsarrhythmia Status epilepticus Broad-based gait Cerebral visual impairment Hypermetropia Generalized tonic-clonic seizures Obsessive-compulsive behavior Myopia Rheumatoid arthritis Incoordination Psychosis Abnormality of the skin Cryptorchidism Wide nasal bridge Downslanted palpebral fissures Abnormal cardiac septum morphology Behavioral abnormality Autism Small for gestational age Microtia Skin rash Autistic behavior Wide mouth Abnormal facial shape Abnormality of the mitochondrion Vitamin B12 deficiency Hepatosplenomegaly Short stature Tonsillitis Monocytosis Acute lymphoblastic leukemia Thrombocytosis Acute myeloid leukemia Myeloid leukemia Increased antibody level in blood Eosinophilia Bone marrow hypocellularity Meningitis Clumsiness Otitis media Leukemia Cerebellar atrophy Gait disturbance Peripheral neuropathy Motor delay Hearing impairment Hemoglobin H Reduced alpha/beta synthesis ratio Abnormal hemoglobin Hypochromic microcytic anemia Acute leukemia Microcytic anemia Bruising susceptibility Dyspnea Renal tubular dysfunction Hemiplegia/hemiparesis Growth delay Cognitive impairment Babinski sign Reticulocytopenia Intellectual disability, severe Abnormality of chromosome stability IgM deficiency Agammaglobulinemia Abnormality of the mouth IgG deficiency Acute kidney injury IgA deficiency Leukopenia Lymphopenia Decreased antibody level in blood Respiratory tract infection Irritability Proteinuria Diarrhea Muscle weakness Gait ataxia Spastic paraparesis Reduced visual acuity Spastic paraplegia Paraplegia Abnormality of extrapyramidal motor function Horizontal nystagmus Paraparesis Restlessness Decreased methylmalonyl-CoA mutase activity 3-Methylglutaconic aciduria Encephalopathy Abnormality of mitochondrial metabolism Ketosis Ketonuria Hyperglycinemia Cystathioninemia


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