Cognitive impairment, and Hemolytic anemia

Diseases related with Cognitive impairment and Hemolytic anemia

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


Top matches:

Low match HEMOGLOBIN H DISEASE; HBH


Hemoglobin H disease is a subtype of alpha-thalassemia (see {604131}) in which patients have compound heterozygosity for alpha(+)-thalassemia, caused by deletion of one alpha-globin gene, and for alpha(0)-thalassemia, caused by deletion in cis of 2 alpha-globin genes (summary by Lal et al., 2011). When 3 alpha-globin genes become inactive because of deletions with or without concomitant nondeletional mutations, the affected individual has only 1 functional alpha-globin gene. These people usually have moderate anemia and marked microcytosis and hypochromia. In affected adults, there is an excess of beta-globin chains within erythrocytes that will form beta-4 tetramers, also known as hemoglobin H (summary by Chui et al., 2003).Hb H disease is usually caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia, a combination referred to as 'deletional' Hb H disease. In a smaller proportion of patients, Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Such a situation is labeled 'nondeletional' Hb H disease. Patients with nondeletional Hb H disease are usually more anemic, more symptomatic, more prone to have significant hepatosplenomegaly, and more likely to require transfusions (summary by Lal et al., 2011).While most thalassemia-related hydrops fetalis is caused by the lack of all alpha-globin genes, there are reports of fetuses with Hb H disease that developed the hydrops fetalis syndrome; see {236750}.

HEMOGLOBIN H DISEASE; HBH Is also known as alpha-thalassemia, hemoglobin h type|hemoglobin h disease, deletional

Related symptoms:

  • Cognitive impairment
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOGLOBIN H DISEASE; HBH

Low match AICARDI-GOUTIERES SYNDROME 6; AGS6


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Spasticity
  • Tremor


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

Low match PAROXYSMAL EXERTION-INDUCED DYSKINESIA


Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia|dyt18|dystonia 18|ped|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA

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Other less relevant matches:

Low match HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1


Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

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

Low match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

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 SYSTEMIC LUPUS ERYTHEMATOSUS


Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus|sle

Related symptoms:

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYSTEMIC LUPUS ERYTHEMATOSUS

Low match FAMILIAL PORENCEPHALY


Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Low match MCLEOD NEUROACANTHOCYTOSIS SYNDROME


McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Hemolytic anemia

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Dystonia Spasticity Babinski sign Hypertonia Mental deterioration Reticulocytosis Falls Purpura Thrombocytopenia Hemiplegia Involuntary movements Ataxia Tremor Fatigue Hepatosplenomegaly Hepatomegaly Short stature Tetraparesis

Rare Symptoms - Less than 30% cases


Sepsis Fever Autoimmunity Leukoencephalopathy Memory impairment Choreoathetosis Generalized-onset seizure Elevated serum creatine phosphokinase Restlessness Migraine Chorea Dyskinesia Paresthesia Cardiomyopathy Renal insufficiency Diarrhea Abnormal lactate dehydrogenase activity Recurrent bacterial infections Spastic tetraparesis Neutropenia Recurrent infections Myopathy Delayed speech and language development Emotional lability Increased muscle fatiguability Complement deficiency Acute kidney injury Dysphasia Rhabdomyolysis Hemiparesis Hematuria Abnormality of movement Muscle cramps Lower limb spasticity Skin rash Edema Decreased mean corpuscular volume Frequent falls Cerebral atrophy Progressive neurologic deterioration Rigidity Muscle weakness Jaundice Nystagmus Microcephaly Cerebellar atrophy Pneumonia Dilatation EEG abnormality Hydrocephalus Ventriculomegaly Cerebellar hypoplasia Strabismus Serositis Malar rash Antiphospholipid antibody positivity Cataract Renal cyst Abnormal pyramidal sign Stroke Polymicrogyria Antinuclear antibody positivity Mitral valve prolapse Exotropia Cerebral palsy Drooling Ischemic stroke Intracranial hemorrhage Cerebral hemorrhage Cortical dysplasia Opisthotonus Visual field defect Pleuritis Hashimoto thyroiditis Raynaud phenomenon Opportunistic infection Abnormality of the skin Arthritis Alopecia Midface retrusion Impaired memory B cell generation IgE deficiency Agranulocytosis Cutaneous photosensitivity Enlarged tonsils Absence of lymph node germinal center Impaired Ig class switch recombination Decreased T cell activation Cholangiocarcinoma Sclerosing cholangitis Psychosis Inflammatory abnormality of the skin Gangrene Abnormality of the thyroid gland Epiphyseal stippling Aseptic necrosis Autoimmune thrombocytopenia Thyroiditis Pericarditis Autoimmune hemolytic anemia Increased antibody level in blood Vasculitis Abnormality of coagulation Rheumatoid arthritis Glomerulonephritis Nephritis Systemic lupus erythematosus Leukopenia Limb dystonia Transient ischemic attack Posterior embryotoxon Motor axonal neuropathy Cardiac arrest Sleep apnea Ventricular arrhythmia Obsessive-compulsive behavior Personality changes Ventricular fibrillation Sensory axonal neuropathy Bowel incontinence Impaired vibration sensation in the lower limbs Impaired pain sensation Insomnia Bipolar affective disorder Ventricular extrasystoles Left bundle branch block Supraventricular tachycardia Hallucinations Abnormal social behavior Hyporeflexia of upper limbs Abnormal facial expression Blood group antigen abnormality Recurrent singultus Abnormal corpus striatum morphology Caudate atrophy Impaired temperature sensation Acanthocytosis Generalized limb muscle atrophy Personality disorder Hyporeflexia of lower limbs Excessive salivation Orofacial dyskinesia Tics Sensorimotor neuropathy Left ventricular hypertrophy Hypoplasia of the iris Pontocerebellar atrophy Gait disturbance Peripheral neuropathy Antenatal intracerebral hemorrhage Spastic hemiparesis Perivascular spaces Schizencephaly Hemianopia Congestive heart failure Primitive reflex Porencephalic cyst Stroke-like episode Nuclear cataract Facial paralysis Dysgammaglobulinemia Dysphagia Behavioral abnormality Atrial fibrillation Dilated cardiomyopathy Neuronal loss in central nervous system Parkinsonism Sensory neuropathy Confusion Lower limb muscle weakness Abnormality of the cerebral white matter Anxiety Depressivity Elevated hepatic transaminase Dyspnea Hyperhidrosis Dementia Areflexia Arrhythmia Increased IgM level Gingivitis Chronic hepatitis Coma Upper limb dysmetria Hypoglycorrhachia Generalized tonic-clonic seizures without focal onset Hypertension Loss of speech Progressive spastic paraplegia Freckling Ankle clonus Abnormality of metabolism/homeostasis Toe walking Proteinuria Stage 5 chronic kidney disease Nephropathy Clonus Hypertriglyceridemia Jerky head movements Leukodystrophy Hyperlipidemia Abnormality of blood and blood-forming tissues Elevated serum creatinine Enterocolitis Hemolytic-uremic syndrome Cerebral calcification Increased blood urea nitrogen Anuria Microangiopathic hemolytic anemia Azotemia Paraplegia Schistocytosis Decreased serum complement C3 Focal aware seizure Paroxysmal dystonia Abnormality of complement system Progressive microcephaly Intellectual disability, moderate Gait ataxia Irritability Generalized tonic-clonic seizures Myoclonus Dysmetria Intellectual disability, mild Hyperreflexia Focal-onset seizure Specific learning disability Generalized hypotonia Limb tremor Loss of ability to walk Limb ataxia Horizontal nystagmus Paroxysmal dyskinesia Hand tremor Limb dysmetria Migraine without aura Abnormality of the head Torsion dystonia Episodic ataxia Action tremor Generalized dystonia Absence seizures Hyperactive deep tendon reflexes Atonic seizures Impulsivity Focal impaired awareness seizure Moderate global developmental delay Slurred speech Decreased serum complement factor B Decreased serum complement factor I IgM deficiency Cholelithiasis Abnormality of immune system physiology Aphasia Microcytic anemia Progressive encephalopathy Myoglobinuria Myelodysplasia Recurrent myoglobinuria Exercise-induced muscle cramps Exercise-induced myoglobinuria Failure to thrive Immunodeficiency Weight loss Carcinoma Abnormality of the liver Neurodegeneration Exercise intolerance Hepatocellular carcinoma Stomatitis Cholangitis Agammaglobulinemia Aggressive behavior Recurrent lower respiratory tract infections IgG deficiency IgA deficiency Decreased antibody level in blood Encephalitis Hydrops fetalis Chronic diarrhea Clumsiness Recurrent otitis media Otitis media Hyperbilirubinemia Retinal dystrophy Decreased serum complement factor H Renal tubular acidosis Decreased level of thrombomodulin Spastic paraplegia Respiratory distress Vomiting Developmental regression Abnormality of the nervous system Acidosis Nausea Metabolic acidosis Aciduria Pigmentary retinopathy Intention tremor Hemoglobin H Reduced alpha/beta synthesis ratio Increased reactive oxygen species production Muscular dystrophy Brachydactyly Paralysis Myalgia Rod-cone dystrophy Visual loss Encephalopathy Abnormal hemoglobin High palate Compensated hemolytic anemia Pain Hypersplenism Increased level of L-pyroglutamic acid in urine Psychotic mentation Glutathione synthetase deficiency Chronic metabolic acidosis Abnormality of the astrocytes



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