Cognitive impairment, and Neutropenia

Diseases related with Cognitive impairment and Neutropenia

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


Top matches:

Low match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 3


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

Low match GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA


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

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Other less relevant matches:

Low match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

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 PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Low match GRISCELLI SYNDROME, TYPE 2; GS2


GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 1


3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Low match X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Low match DK1-CDG


DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

Top 5 symptoms//phenotypes associated to Cognitive impairment and Neutropenia

Symptoms // Phenotype % cases
Recurrent infections Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Neutropenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Intellectual disability Dysarthria Anemia Failure to thrive Choreoathetosis Hepatomegaly Nystagmus Aciduria Cardiomyopathy Immunodeficiency Growth delay Recurrent bacterial infections Abnormality of movement Splenomegaly Sepsis Dilatation Fever Encephalopathy Thrombocytopenia 3-Methylglutaconic aciduria Progressive neurologic deterioration Leukopenia Generalized hypotonia Delayed speech and language development Decreased antibody level in blood Hearing impairment Hemolytic anemia

Rare Symptoms - Less than 30% cases


Hypoglycemia Spastic tetraparesis Hyperactivity Gastroesophageal reflux Dilated cardiomyopathy Autoimmunity Diarrhea Alopecia Cerebral atrophy Dystonia Rigidity Cataract Abnormal facial shape Microcephaly Recurrent pneumonia Agammaglobulinemia Weight loss Sensorineural hearing impairment Encephalitis Leukoencephalopathy Chronic diarrhea Otitis media Neurodegeneration Tetraplegia Metabolic acidosis Inflammatory abnormality of the skin Dementia Abnormality of extrapyramidal motor function Hypopigmented skin patches Hepatitis Lymphopenia Muscular hypotonia Hyperreflexia Optic atrophy Gait ataxia Spastic paraplegia Paraplegia Myoclonus Acidosis Myopathy Vomiting Paraparesis Spastic paraparesis Fatigue Recurrent skin infections Abnormality of the cerebral white matter Pneumonia Abnormal eyelash morphology Neoplasm Depressivity Arthritis Progressive forgetfulness Hyperchloremic acidosis Testicular dysgenesis Rod-cone dystrophy Iris hypopigmentation Pulmonary infiltrates Retinopathy Abnormality of lipid metabolism Abnormality of the basal ganglia Petechiae Premature graying of hair Skin rash Albinism Malabsorption Abnormal lung morphology Visual loss Pyloric stenosis Nonprogressive cerebellar ataxia Abnormal eyebrow morphology Skeletal myopathy Abnormality of neutrophils Confusion Coma Motor delay Accumulation of melanosomes in melanocytes Melanin pigment aggregation in hair shafts Silver-gray hair Cutaneous anergy Progressive cerebellar ataxia Severe global developmental delay Reduced delayed hypersensitivity Partial albinism Short attention span Urinary incontinence Febrile seizures Memory impairment Hemophagocytosis White hair Progressive visual loss Edema of the lower limbs Spastic tetraplegia Limb ataxia Unsteady gait Athetosis Generalized edema Septic arthritis Recurrent urinary tract infections Erythroderma Dry skin Ichthyosis Abnormal bleeding Cyanosis Hypsarrhythmia Thin skin Postnatal microcephaly Sparse and thin eyebrow Bradycardia Aspiration Sparse eyelashes Severe muscular hypotonia Ventricular tachycardia Sacral dimple Ventricular fibrillation Myalgia Hypoketotic hypoglycemia Adactyly Abnormal isoelectric focusing of serum transferrin Reduced antithrombin III activity Type I transferrin isoform profile Aplasia/Hypoplasia of the nipples Congenital hepatic fibrosis Myocarditis Hyperglycemia Epileptic spasms Microcytic anemia Lipoatrophy Neurodevelopmental delay Abnormality of coagulation Bilateral talipes equinovarus Apnea Elevated hepatic transaminase Telangiectasia Osteomyelitis Abnormality of the lymphatic system Myelopathy Cor pulmonale Glossoptosis Bronchitis Cellulitis Chronic otitis media Pyoderma Rheumatoid arthritis Conjunctivitis Hypocalcemia Meningitis Skin ulcer Sinusitis Thymoma Recurrent cutaneous abscess formation Hyperkeratosis Muscle weakness Cerebral cortical atrophy Elevated serum creatine phosphokinase Arrhythmia Absent speech Renal insufficiency Congestive heart failure Strabismus Cranial nerve paralysis Enteroviral hepatitis Enteroviral dermatomyositis syndrome Lymph node hypoplasia Prostatitis Epididymitis Abnormality of the tonsils Reduced tendon reflexes Sensory impairment Hyperlipidemia Hepatocellular carcinoma Renal tubular acidosis Increased reactive oxygen species production Compensated hemolytic anemia Chronic metabolic acidosis Glutathione synthetase deficiency Psychotic mentation Increased level of L-pyroglutamic acid in urine Carcinoma Abnormality of the liver Recurrent otitis media Clumsiness Involuntary movements IgA deficiency IgG deficiency Intention tremor Recurrent lower respiratory tract infections Gingivitis Cholangitis Stomatitis IgM deficiency Chronic hepatitis Dysgammaglobulinemia Increased IgM level Sclerosing cholangitis Cholangiocarcinoma Decreased T cell activation Impaired Ig class switch recombination Absence of lymph node germinal center Enlarged tonsils Tetraparesis Pigmentary retinopathy Opportunistic infection Focal segmental glomerulosclerosis Cleft palate Hypertension Intrauterine growth retardation Polydactyly Proteinuria Abnormality of the kidney Postnatal growth retardation Nephropathy Hematuria Renal cyst Bifid uvula Chronic kidney disease Preaxial polydactyly Hyperuricemia Falls Gout Elevated serum creatinine Velopharyngeal insufficiency Visual impairment Gait disturbance Babinski sign Reduced visual acuity Chorea Horizontal nystagmus Restlessness Tremor Respiratory distress Hypertonia Nausea Agranulocytosis IgE deficiency Bone marrow hypocellularity Vasculitis in the skin Erythema Asthma Lymphoma Eczema Bronchiectasis Vasculitis Narrow palpebral fissure Glomerulonephritis Combined immunodeficiency Atopic dermatitis Severe combined immunodeficiency Allergic rhinitis Membranoproliferative glomerulonephritis Autoimmune neutropenia Abnormality of the nervous system Cortical myoclonus Hydrocephalus Edema Jaundice Hepatosplenomegaly Lethargy Nausea and vomiting Lymphadenopathy Hypopigmentation of the skin Ascites Abnormal cerebellum morphology Peripheral demyelination Pancytopenia Encephalocele Respiratory tract infection Conductive hearing impairment Impaired memory B cell generation Increased serum lactate Flexion contracture Feeding difficulties Dysphagia Cerebellar atrophy Respiratory failure Hypothyroidism Neonatal hypotonia Developmental regression Abnormal pyramidal sign Attention deficit hyperactivity disorder Leukemia Gliosis Brain atrophy Neuronal loss in central nervous system Recurrent respiratory infections Myelodysplasia Opisthotonus Myeloid leukemia Acute myeloid leukemia Progressive encephalopathy Dyslexia Upper motor neuron dysfunction Dysgraphia Congenital neutropenia Scoliosis High palate Brachydactyly Abnormality of the skeletal system Hyporeflexia Aplasia of the fingers



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Gait disturbance, related diseases and genetic alterations Hyperreflexia and Progressive neurologic deterioration, related diseases and genetic alterations Brachydactyly and Combined immunodeficiency, related diseases and genetic alterations Hydrocephalus and Macular degeneration, related diseases and genetic alterations

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