Anemia, and Dementia

Diseases related with Anemia and Dementia

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


Top matches:

Low match MEGALOBLASTIC ANEMIA 1


Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a defect in the vitamin B12/intrinsic factor receptor. See also congenital pernicious anemia due to a defect in intrinsic factor (OMIM ).Adult pernicious anemia (OMIM ) is a distinct autoimmune disorder associated with plasma autoantibodies to gastric parietal cells or gastric intrinsic factor. In these cases, there is gastric atrophy and a relatively high frequency of associated thyroiditis and myxedema.

MEGALOBLASTIC ANEMIA 1 Is also known as pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|mga1|enterocyte intrinsic factor receptor, defect of|enterocyte cobalamin malabsorption|igs|imerslund-grasbeck syndrome

Related symptoms:

  • Anemia
  • Dementia
  • Proteinuria
  • Paralysis
  • Autoimmunity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALOBLASTIC ANEMIA 1

Low match ACTION MYOCLONUS-RENAL FAILURE SYNDROME


Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.

ACTION MYOCLONUS-RENAL FAILURE SYNDROME Is also known as myoclonus-nephropathy syndrome|progressive myoclonic epilepsy type 4|epm4|amrf|action myoclonus-renal failure syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Anemia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACTION MYOCLONUS-RENAL FAILURE SYNDROME

Low match ACERULOPLASMINEMIA


Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

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Other less relevant matches:

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

Low match JUVENILE HUNTINGTON DISEASE


Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Low match HYPERLIPOPROTEINEMIA, TYPE I


HYPERLIPOPROTEINEMIA, TYPE I Is also known as lpl deficiency|hyperchylomicronemia, familial|lipase d deficiency|lipd deficiency|lipoprotein lipase deficiency|hyperlipemia, essential familial|chylomicronemia, familial|hyperlipemia, idiopathic, burger-grutz type|hyperlipoproteinemia, type ia

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Pain
  • Anemia
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about HYPERLIPOPROTEINEMIA, TYPE I

Low match WOLFRAM SYNDROME


Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM SYNDROME

Low match MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY


Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Is also known as myoneurogastrointestinal encephalopathy syndrome|polip syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mngie|mngie, tymp-related

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

Low match NIEMANN-PICK DISEASE, TYPE C1; NPC1


Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

Low match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF


Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6|xp, group f|xeroderma pigmentosum vi

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

Top 5 symptoms//phenotypes associated to Anemia and Dementia

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Chorea Uncommon - Between 30% and 50% cases
Dysphagia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Dementia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Tremor Behavioral abnormality Cognitive impairment Dystonia Depressivity Intellectual disability Peripheral neuropathy Abnormality of the cerebral white matter Abnormality of movement Ophthalmoplegia Mental deterioration Myopathy Involuntary movements Generalized-onset seizure Neuronal loss in central nervous system Memory impairment Proteinuria Neurodegeneration Cirrhosis Growth delay Hepatosplenomegaly Elevated hepatic transaminase Gait ataxia Myoclonus Areflexia Cerebellar atrophy Gait disturbance Malabsorption Paresthesia Confusion Diabetes mellitus Sensorineural hearing impairment Splenomegaly Rigidity

Rare Symptoms - Less than 30% cases


Restlessness Personality changes Hepatomegaly Obsessive-compulsive behavior Sensorimotor neuropathy Hallucinations Anxiety Cardiomyopathy Cerebral atrophy Hyperhidrosis Brain atrophy Acanthocytosis Diarrhea Abnormality of the nervous system Intrauterine growth retardation Hearing impairment Sleep disturbance Developmental regression Constipation Nystagmus Foam cells Abdominal distention Nausea Skin rash Abdominal pain Vomiting Hypertension Pain Head tremor Schizophrenia Clumsiness Progressive neurologic deterioration Short stature Progressive cerebellar ataxia Abnormality of eye movement Irritability Weight loss Hyperactivity Hyperreflexia Muscle weakness Jaundice Demyelinating peripheral neuropathy Spasticity Hypertonia Nephropathy Intention tremor Retinal degeneration Parkinsonism Congestive heart failure Paralysis Delayed speech and language development Hyperkinesis Slurred speech Falls Muscle fibrillation Thrombocytopenia Renal insufficiency Cytochrome C oxidase-negative muscle fibers Scleroderma Axonal degeneration Difficulty climbing stairs Decreased muscle mass Malnutrition Abnormality of the mitochondrion Decreased motor nerve conduction velocity Poor appetite Abnormality of mitochondrial metabolism Macrovesicular hepatic steatosis Bilateral ptosis Decreased sensory nerve conduction velocity Ophthalmoparesis Gastroparesis Mitochondrial myopathy Intermittent diarrhea Progressive external ophthalmoplegia Abnormality of the vasculature Increased CSF protein Abnormality of the gastrointestinal tract Hyperalaninemia Abnormality of the hand Intestinal pseudo-obstruction Absent Achilles reflex Gastrointestinal dysmotility Skeletal myopathy Decreased number of large peripheral myelinated nerve fibers Slender build Aceruloplasminemia Cachexia Male hypogonadism Acidosis Skeletal muscle atrophy Ptosis Sensory impairment Abnormality of mesentery morphology Gastric ulcer Central apnea Dysuria Proximal muscle weakness Diabetes insipidus Polydipsia Abnormality of the urinary system Abnormal autonomic nervous system physiology Recurrent urinary tract infections Gastrointestinal hemorrhage Thyroiditis Gastroesophageal reflux Distal muscle weakness Polycystic ovaries Leukodystrophy Easy fatigability Ragged-red muscle fibers Diffuse leukoencephalopathy External ophthalmoplegia Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Foot dorsiflexor weakness Chronic diarrhea Muscular dystrophy Peripheral demyelination Polyneuropathy Distal sensory impairment Distal amyotrophy Lactic acidosis Peripheral axonal neuropathy Limb muscle weakness Leukoencephalopathy Abnormal cell morphology Multiple mitochondrial DNA deletions Scoliosis Erythema Deeply set eye Photophobia Feeding difficulties Flexion contracture Neoplasm Microcephaly Papule Fatal liver failure in infancy Low cholesterol esterification rates Abnormal cholesterol homeostasis Foam cells in visceral organs and CNS Sea-blue histiocytosis Congenital thrombocytopenia Fetal ascites Attention deficit hyperactivity disorder Astigmatism Bone-marrow foam cells Freckling Seborrheic keratosis Cholangiocarcinoma Defective DNA repair after ultraviolet radiation damage Morphological abnormality of the central nervous system Verrucae Tubular atrophy Neoplasm of the skin Muscle cramps Bone marrow hypocellularity Cafe-au-lait spot Decreased body weight Cutaneous photosensitivity Microdontia Prominent nose Delayed myelination Rapid neurologic deterioration Supranuclear ophthalmoplegia Subsarcolemmal accumulations of abnormally shaped mitochondria Muscular hypotonia Generalized tonic-clonic seizures Neurological speech impairment Abnormal pyramidal sign Neonatal hypotonia Pneumonia Autoimmunity Generalized hypotonia Ascites Global developmental delay Small intestinal dysmotility Abnormality of the extraocular muscles Megaloblastic anemia Atrophic muscularis propria Hypointensity of cerebral white matter on MRI Intestinal perforation Bruising susceptibility Tetraplegia Cataplexy Loss of speech Vertical supranuclear gaze palsy Visceromegaly Aplasia/Hypoplasia of the abdominal wall musculature Spastic dysarthria Supranuclear gaze palsy Trismus Neurofibrillary tangles Oligohydramnios Prolonged neonatal jaundice Athetosis Dysphonia Psychosis Intellectual disability, profound Spastic tetraplegia Mitral valve prolapse Delayed puberty Optic atrophy Joint stiffness Excessive salivation Abnormal social behavior Impaired temperature sensation Generalized limb muscle atrophy Personality disorder Increased muscle fatiguability Hyporeflexia of lower limbs Orofacial dyskinesia Caudate atrophy Tics Supraventricular tachycardia Motor axonal neuropathy Left bundle branch block Ventricular extrasystoles Bipolar affective disorder Abnormal lactate dehydrogenase activity Abnormal corpus striatum morphology Hypothyroidism Aggressive behavior Gliosis Abnormal glycosylation Abnormal cerebellum morphology Infertility Mild proteinuria Cough Arthritis Recurrent singultus Fatigue Ventriculomegaly Respiratory distress Abnormality of the astrocytes Hyporeflexia of upper limbs Abnormal facial expression Blood group antigen abnormality Insomnia Impaired pain sensation Bradykinesia Increased serum ferritin Dilated cardiomyopathy Cerebral palsy Polyuria Dyspnea Babinski sign Elevated serum creatine phosphokinase Arrhythmia Type I diabetes mellitus Blepharospasm Cogwheel rigidity Scanning speech Refractory anemia Decreased serum ceruloplasmin Elevated hepatic iron concentration Torticollis Lower limb muscle weakness Impaired vibration sensation in the lower limbs Poor speech Rhabdomyolysis Bowel incontinence Sensory axonal neuropathy Ventricular fibrillation Emotional lability Difficulty walking Ventricular arrhythmia Hemolytic anemia Sleep apnea Cardiac arrest Left ventricular hypertrophy Atrial fibrillation Abnormality of extrapyramidal motor function Sensory neuropathy Dyskinesia Normochromic anemia Type II diabetes mellitus Feeding difficulties in infancy Impaired proprioception Acute pancreatitis Chills Hyperlipoproteinemia Hypocholesterolemia Precocious atherosclerosis Unsteady gait Peritonitis Intestinal bleeding Peripheral arterial stenosis Episodic abdominal pain Steatorrhea Glucose intolerance Back pain EMG: myopathic abnormalities Hypersplenism Chronic pancreatitis Hyperlipidemia Decreased serum iron Poikiloderma Glaucoma Cerebral cortical atrophy Hypogonadism Vitamin B12 deficiency Respiratory insufficiency Malabsorption of Vitamin B12 Eruptive xanthomas Lactescent serum Abnormality of vitamin metabolism Increased hepatocellular lipid droplets Pancreatic calcification Increased circulating chylomicron concentration Lipemia retinalis Recurrent pancreatitis Hypercholesterolemia Atherosclerosis Broad-based gait Cerebellar vermis atrophy Paranoia Testicular atrophy Dilated fourth ventricle Chronic bronchitis Focal segmental glomerulosclerosis Upper limb undergrowth Bronchitis Abnormal involuntary eye movements Hypokinesia Akinesia Rheumatoid arthritis Incoordination Glomerulopathy Action tremor Mania Neuronal loss in basal ganglia Pancreatitis Nephrotic syndrome Hypertriglyceridemia Stage 5 chronic kidney disease Hepatic steatosis Nausea and vomiting Retinopathy Pallor Decreased nerve conduction velocity Suicidal ideation Hypoalbuminemia Visual impairment Glomerulosclerosis Failure to thrive Postural tremor Oral motor hypotonia Frequent temper tantrums Numerous pigmented freckles



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Peripheral neuropathy and Areflexia, related diseases and genetic alterations Strabismus and Leukoencephalopathy, related diseases and genetic alterations Failure to thrive and Retinoblastoma, related diseases and genetic alterations Failure to thrive and Autoimmunity, related diseases and genetic alterations Abnormal facial shape and Distal sensory impairment, related diseases and genetic alterations

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