Cognitive impairment, and Ascites

Diseases related with Cognitive impairment and Ascites

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


Top matches:

Low match FAMILIAL ATRIAL MYXOMA


Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.

FAMILIAL ATRIAL MYXOMA Is also known as atrial myxoma, familial

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Atrial septal defect
  • Congestive heart failure


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL ATRIAL MYXOMA

Low match MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY


Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Low match NIEMANN-PICK DISEASE, TYPE C2; NPC2


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 (OMIM ), referred to as type C1 (OMIM ); 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2. The clinical manifestations of types C1 (OMIM ) 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).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C2; NPC2

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Other less relevant matches:

Low match LYMPHANGIOLEIOMYOMATOSIS


Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).

LYMPHANGIOLEIOMYOMATOSIS Is also known as lam|lymphangiomyomatosis

Related symptoms:

  • Seizures
  • Pain
  • Cognitive impairment
  • Fever
  • Optic atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LYMPHANGIOLEIOMYOMATOSIS

Low match PRUNE BELLY SYNDROME


Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.

PRUNE BELLY SYNDROME Is also known as abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism|abdominal muscle deficiency syndrome|eagle-barret syndrome|eagle-barrett syndrome|triad syndrome|egbrs|obrinsky syndrome

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Cryptorchidism
  • Cognitive impairment
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRUNE BELLY SYNDROME

Low match FARBER DISEASE


Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

FARBER DISEASE Is also known as acid ceramidase deficiency|ac deficiency|farber lipogranulomatosis|ceramidase deficiency|farber disease|n-laurylsphingosine deacylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FARBER DISEASE

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 GALACTOSIALIDOSIS


Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.

GALACTOSIALIDOSIS Is also known as ppca deficiency|lysosomal protective protein deficiency|goldberg syndrome|ngbe|cathepsin a deficiency|protective protein/cathepsin a deficiency|neuraminidase/beta-galactosidase expression|neuraminidase deficiency with beta-galactosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GALACTOSIALIDOSIS

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 GALACTOSEMIA


Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by Bosch, 2006).

GALACTOSEMIA Is also known as galactose-1-phosphate uridylyltransferase deficiency|galt deficiency|galactosemia, classic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOSEMIA

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Jaundice Muscular hypotonia Generalized hypotonia Growth delay Failure to thrive Spasticity Edema Splenomegaly Progressive neurologic deterioration Dysarthria Dystonia Anemia Edema of the lower limbs Thrombocytopenia Mental deterioration Visceromegaly Fetal ascites Short stature Recurrent respiratory infections Fever Behavioral abnormality Cardiomegaly

Rare Symptoms - Less than 30% cases


Psychosis Oligohydramnios Neurodegeneration Paralysis Chest pain Dementia Respiratory failure Abnormal lung morphology Respiratory insufficiency Dysphagia Mitral valve prolapse Pulmonary infiltrates Hydrocephalus Abnormality of skin pigmentation Telangiectasia Athetosis Bone-marrow foam cells Foam cells Low cholesterol esterification rates Abnormal cholesterol homeostasis Foam cells in visceral organs and CNS Sea-blue histiocytosis Dilatation Cataplexy Abnormality of movement Vertical supranuclear gaze palsy Supranuclear gaze palsy Loss of speech Neurofibrillary tangles Prolonged neonatal jaundice Lymphadenopathy Cirrhosis Abdominal distention Sepsis Decreased liver function Motor delay Irritability Abnormality of the nervous system Corneal opacity Lethargy Myoclonus Hydrops fetalis Optic atrophy Gait disturbance Tremor Renal insufficiency Vomiting Hemophagocytosis Cherry red spot of the macula Nonimmune hydrops fetalis Nausea and vomiting Feeding difficulties Respiratory distress Arthralgia Metabolic acidosis Osteoporosis Neurological speech impairment Hypoglycemia Atrial septal defect Congestive heart failure Nystagmus Abnormality of the kidney Rapid neurologic deterioration Aortic regurgitation Abnormal vertebral morphology Inability to walk Congenital thrombocytopenia Dysostosis multiplex Inguinal hernia Abnormality of the vertebral column Fatal liver failure in infancy Hearing impairment Spondyloepiphyseal dysplasia Skeletal dysplasia Hemangioma Depressed nasal bridge Hernia Opacification of the corneal stroma Visual loss Severe short stature Coarse facial features Speech apraxia Supranuclear ophthalmoplegia Bruising susceptibility Periarticular subcutaneous nodules Lipogranulomatosis Hyperreflexia Intrauterine growth retardation Pneumonia Neonatal hypotonia Developmental regression Abnormal pyramidal sign Skin rash Generalized tonic-clonic seizures Abnormality of the cerebral white matter Ophthalmoplegia Retinal degeneration Sleep disturbance Aplasia/Hypoplasia of the abdominal wall musculature Increased level of galactitol in urine Tetraplegia Chorea Neuronal loss in central nervous system Spastic tetraplegia Intellectual disability, profound Intention tremor Vacuolated lymphocytes Clumsiness Schizophrenia Dysphonia Trismus Head tremor Spastic dysarthria Conjunctival telangiectasia Encephalocele Mucopolysacchariduria Weight loss Hypergonadotropic hypogonadism Anorexia Abnormal bleeding Hemolytic anemia Hepatic failure Abnormality of the liver Feeding difficulties in infancy Hypogonadism Aminoaciduria Abnormality of metabolism/homeostasis Diarrhea Visual impairment Delayed speech and language development Cataract Neoplasm Microcephaly Hypogonadotrophic hypogonadism Speech articulation difficulties Melanin pigment aggregation in hair shafts Failure to thrive in infancy Abnormality of the ovary Renal tubular dysfunction Abnormality of coagulation Abnormality of the coagulation cascade Nephritis Premature ovarian insufficiency Abnormality of the voice Vitreous hemorrhage Galactosuria Decreased fertility in females Retinal hemorrhage Hypergalactosemia Hyperchloremic metabolic acidosis Albuminuria Shock Food intolerance Accumulation of melanosomes in melanocytes Impairment of galactose metabolism Angiokeratoma Decreased antibody level in blood Hyperlipidemia Recurrent bacterial infections Bone marrow hypocellularity Neoplasm of the liver Pancytopenia Hepatitis Peripheral demyelination Abnormal cerebellum morphology Cranial nerve paralysis Hypopigmentation of the skin Neutropenia Rigidity Recurrent infections Immunodeficiency Decreased beta-galactosidase activity Arthralgia of the hip Leukopenia Reduced tendon reflexes Increased level of galactitol in plasma White hair Silver-gray hair Cutaneous anergy Reduced delayed hypersensitivity Abnormality of neutrophils Partial albinism Generalized edema Increased level of galactitol in red blood cells Abnormal eyebrow morphology Hypopigmented skin patches Abnormal eyelash morphology Abnormality of lipid metabolism Psychomotor deterioration Iris hypopigmentation Petechiae Premature graying of hair Albinism Pyloric stenosis Hoarse cry Cervical ribs Histiocytosis Bradykinesia Motor aphasia Perseveration Interstitial pulmonary abnormality Aphasia Oral-pharyngeal dysphagia Stereotypy Dyskinesia Fatigue Decreased activity of mitochondrial respiratory chain Hyperalaninemia Severe lactic acidosis Sinus bradycardia Wolff-Parkinson-White syndrome Ketonuria Pain Abdominal pain Pleural effusion Restrictive ventilatory defect Abnormality of female internal genitalia Atelectasis Renal neoplasm Multiple renal cysts Hemoptysis Macule Emphysema Dyspnea Nephroblastoma Melanoma Lymphedema Myocardial infarction Gastrointestinal hemorrhage Hematuria Cough Aspiration pneumonia Infantile muscular hypotonia Bronchiolitis Heart murmur Growth hormone excess Dilatation of the cerebral artery Thromboembolism Exertional dyspnea Cerebral hemorrhage Tricuspid regurgitation Easy fatigability Pulmonary edema Ischemic stroke Neoplasm of the skin Cholestasis Syncope Coma Confusion Headache Subarachnoid hemorrhage Endocarditis Bradycardia Acidosis Increased serum lactate Tachycardia Lactic acidosis Poor speech Small for gestational age Hypertrophic cardiomyopathy Arrhythmia Orthopnea Encephalopathy Cardiomyopathy Muscle weakness Pulmonic valve myxoma Cardiac myxoma Bacterial endocarditis Increased inflammatory response Pneumothorax Chylothorax Juvenile rheumatoid arthritis Urogenital sinus anomaly Urethral obstruction Megacystis Abnormality of the bladder Prune belly Abdominal wall defect Urethral stenosis Intestinal atresia Dilatation of the bladder Miosis Volvulus Abnormality of the uterus 11 pairs of ribs Aplasia/Hypoplasia of the lungs Xerostomia Abnormality of the ureter Congenital posterior urethral valve Aplasia of the abdominal wall musculature Vertebral segmentation defect Abnormality of vision Joint swelling Weak cry Pulmonary fibrosis Decreased muscle mass Rheumatoid arthritis Laryngomalacia Spontaneous abortion Aplasia of the musculature Hoarse voice Subcutaneous nodule Nephropathy Joint stiffness Abnormality of the eye Arthritis Kyphosis Decreased fertility Hydroureter Abnormality of the lymphatic system Chylopericardium Patent ductus arteriosus Pectus excavatum Talipes equinovarus Ventricular septal defect Cryptorchidism Scoliosis Pulmonary lymphangiomyomatosis Constipation Cystic lung disease Ungual fibroma Retinal hamartoma Renal angiomyolipoma Bronchiolitis obliterans Shagreen patch Abnormal urinary color Abnormal heart morphology Hydronephrosis Bilateral cryptorchidism Epistaxis Abnormality of the urinary system Cutis laxa Multicystic kidney dysplasia Hemivertebrae Congenital hip dislocation Recurrent urinary tract infections Abnormality of the ribs Pectus carinatum Tetralogy of Fallot Decreased testicular size Abnormality of the skin Intestinal malrotation Vesicoureteral reflux Anal atresia Hip dislocation Increased level of galactonate in red blood cells



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