Cognitive impairment, and Malabsorption

Diseases related with Cognitive impairment and Malabsorption

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

Top matches:

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

Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic bile duct obstruction. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months (Summerskill and Walshe, 1959; Schapiro and Isselbacher, 1963; Brenard et al., 1989).Tygstrup et al. (1999) stated that referring to this disorder as 'benign' is a misnomer, because the disease has an impact on the quality of life in some patients. They preferred the term 'recurrent familial intrahepatic cholestasis.' Genetic Heterogeneity of Benign Recurrent Intrahepatic CholestasisSee also BRIC2 (OMIM ), caused by mutation in the ABCB11 gene (OMIM ) on chromosome 2q24.

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1 Is also known as summerskill syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1

Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cognitive impairment
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL SHORT BOWEL SYNDROME

Other less relevant matches:

Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

ATAXIA WITH VITAMIN E DEFICIENCY Is also known as familial isolated vitamin e deficiency|aved|ataxia with isolated vitamin e deficiency|isolated vitamin e deficiency|friedreich-like ataxia|ataxia, friedreich-like, with selective vitamin e deficiency

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ATAXIA WITH VITAMIN E DEFICIENCY

Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

Low match HARTNUP DISEASE

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

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 LYNCH SYNDROME

LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH 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

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

Symptoms // Phenotype % cases
Dysarthria Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Diarrhea Steatorrhea Nystagmus Spasticity Peripheral neuropathy Gait disturbance Tremor Cirrhosis Hypertonia Developmental regression Intellectual disability Dementia Irritability Migraine Hallucinations Vomiting Anemia Failure to thrive Short stature Confusion

Rare Symptoms - Less than 30% cases

Anxiety Optic atrophy Retinopathy Fat malabsorption Photophobia Gait ataxia Hypogonadism Hepatomegaly Neoplasm Paresthesia Headache Behavioral abnormality Cardiomyopathy Hemiplegia/hemiparesis Nausea Global developmental delay Constipation Abdominal pain Areflexia Hypercholesterolemia Rod-cone dystrophy Diabetes mellitus Hypertriglyceridemia Mental deterioration Sensory neuropathy Abnormal pyramidal sign Gastrointestinal hemorrhage Unsteady gait Neurological speech impairment Gastroesophageal reflux Myopathy Hepatic steatosis Jaundice Ptosis Cataract Abdominal distention Skin rash Intestinal malrotation Hydrocephalus Pancreatitis Chronic diarrhea Muscular hypotonia Sensory impairment Cholestasis Memory impairment Abnormality of the liver Splenomegaly Nausea and vomiting Hyperhidrosis Peritonitis Acanthocytosis Impaired proprioception Pallor Peripheral arterial stenosis Episodic abdominal pain Pain Glucose intolerance Back pain EMG: myopathic abnormalities Hepatosplenomegaly Hyperlipidemia Atherosclerosis Elevated hepatic transaminase Mood changes Growth delay Emotional lability Abnormality of the eye Vertigo Aciduria Abnormal blistering of the skin Psychosis Cutaneous photosensitivity Inflammatory abnormality of the skin Diplopia Proteinuria Aminoaciduria Hypopigmented skin patches Abnormality of vision Encephalitis Insomnia Neutral hyperaminoaciduria Irregular hyperpigmentation Delusions Gingivitis Bruxism Episodic ataxia Methylmalonic aciduria Abnormal urinary color Precocious atherosclerosis Glossitis Neural tube defect Hyperphenylalaninemia Glabellar reflex Grasp reflex Foam cells Pruritus Hypocholesterolemia Glaucoma Pancreatic adenocarcinoma Glioblastoma multiforme Agnosia Neoplasm of the thyroid gland Benign neoplasm of the central nervous system Neoplasm of the skeletal system Abnormality of creatine metabolism Neoplasm of the rectum Cardiac diverticulum Urinary tract neoplasm Sensorineural hearing impairment Respiratory insufficiency Cerebral cortical atrophy Feeding difficulties in infancy Amaurosis fugax Joint stiffness Ophthalmoplegia Delayed puberty Nephropathy Sleep disturbance Recurrent urinary tract infections Abnormal autonomic nervous system physiology Abnormality of the urinary system Polydipsia Diabetes insipidus Dysuria Male hypogonadism Central apnea Gastric ulcer Leiomyosarcoma Dysgraphia Hyperlipoproteinemia Fatigue Chills Acute pancreatitis Hypersplenism Intestinal bleeding Chronic pancreatitis Eruptive xanthomas Recurrent pancreatitis Lipemia retinalis Increased circulating chylomicron concentration EEG abnormality Increased hepatocellular lipid droplets Abnormality of vitamin metabolism Lactescent serum Flexion contracture Weight loss Prostate cancer Carcinoma Attention deficit hyperactivity disorder Dyskinesia Increased intracranial pressure Breast carcinoma Basal cell carcinoma Visual field defect Colon cancer Neuroblastoma Ovarian neoplasm Hepatocellular carcinoma Neoplasm of the pancreas Pituitary adenoma Intestinal polyposis Pancreatic calcification Coma Fever Thyroiditis Hearing impairment Malabsorption of Vitamin B12 Skeletal muscle atrophy Vitamin B12 deficiency Poikiloderma Megaloblastic anemia Dystonia Visual loss Arrhythmia Pes cavus Abnormality of the nervous system Hypertrophic cardiomyopathy Nyctalopia Scoliosis Lower limb muscle weakness Dysmetria Abnormality of retinal pigmentation Slurred speech Dysdiadochokinesis Abnormality of visual evoked potentials Spinocerebellar tract degeneration Increased LDL cholesterol concentration Xanthelasma Abetalipoproteinemia Vitamin E deficiency Tendon xanthomatosis Microcephaly Muscle weakness Abnormal peristalsis Micrognathia Hepatic failure Hypocalcemia Reduced bone mineral density Abnormality of coagulation Intrahepatic cholestasis Conjugated hyperbilirubinemia Biliary cirrhosis Abnormal thrombocyte morphology Intermittent jaundice Increased serum bile acid concentration Intrahepatic cholestasis with episodic jaundice Delayed skeletal maturation Hypotrichosis Sepsis Decreased intestinal transit time Aganglionic megacolon Increased body weight Hemivertebrae Pyloric stenosis Dextrocardia Malnutrition Lipoatrophy Volvulus Gastroparesis Absent hand Displacement of the external urethral meatus Congenital shortened small intestine Intestinal hypoplasia Hypertelorism Cleft palate Hyperreflexia Status epilepticus Jejunal atresia Corneal astigmatism Epicanthus Frontal bossing Encephalopathy Autoimmunity Peripheral axonal neuropathy Distal sensory impairment Polyneuropathy Paralysis Pigmentary retinopathy Type II diabetes mellitus Intention tremor Bilateral renal hypoplasia Hemiparesis Sensorimotor neuropathy Hypergonadotropic hypogonadism Bilateral single transverse palmar creases Paraparesis Spastic paraparesis Apathy Agitation Atrophy/Degeneration affecting the brainstem Iris hypopigmentation Biliary tract abnormality Generalized hypotonia Strabismus Hypoplastic iris stroma Retinal vascular tortuosity Low-set ears Iris coloboma Wide nasal bridge Microphthalmia Cerebellar hypoplasia Agenesis of corpus callosum Polydactyly Deeply set eye Hydronephrosis Abnormality of the pinna Wide mouth Coloboma Prominent nasal bridge Astigmatism Microcornea Accessory spleen Prominent nose Cerebellar vermis hypoplasia Renal hypoplasia Short palpebral fissure Optic nerve hypoplasia Preaxial polydactyly Short columella Sclerocornea Duodenal atresia Ectopia pupillae Sex reversal Peters anomaly Intestinal atresia Abnormality of mesentery morphology


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