Intellectual disability, and Pancreatitis

Diseases related with Intellectual disability and Pancreatitis

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

Top matches:

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Nephronophthisis is an autosomal recessive cystic kidney disease characterized by onset of end-stage renal failure in the first 3 decades of life. The disorder is often associated with extrarenal manifestations, including liver fibrosis, retinal degeneration, and central nervous system abnormalities (summary by O'Toole et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Other less relevant matches:

Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.

CLASSIC MAPLE SYRUP URINE DISEASE Is also known as keto acid decarboxylase deficiency|classic branched-chain ketoaciduria|classic branched-chain alpha-ketoacid dehydrogenase deficiency|classic msud|bckd deficiency|classic bckd deficiency|branched-chain ketoaciduria|branched-chain alpha-keto acid dehydroge

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLASSIC MAPLE SYRUP URINE DISEASE

Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Is also known as berardinelli-seip congenital lipodystrophy, type 2|brunzell syndrome, bscl2-related|lipoatrophic diabetes, congenital|seip syndrome|lipodystrophy, total, and acromegaloid gigantism|lipodystrophy, berardinelli-seip congenital, type 2|berardinelli syndrome

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

Medium match PROPIONIC ACIDEMIA

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as glycinemia, ketotic|ketotic hyperglycinemia|propionyl-coa carboxylase deficiency|propionic aciduria|pcc deficiency|hyperglycinemia with ketoacidosis and leukopenia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROPIONIC ACIDEMIA

Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome (MFS ), and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. There are 2 main phenotypes of the classic disorder: a milder pyridoxine (vitamin B6)-responsive form, and a more severe pyridoxine-nonresponsive form. Pyridoxine is a cofactor for the CBS enzyme, and can aid in the conversion of homocysteine to cysteine (summary by Reish et al., 1995 and Testai and Gorelick, 2010).Some patients have been reported to have a milder form of homocystinuria, which is characterized by increased plasma homocysteine and increased risk for thrombotic events in young adulthood, but without the other skeletal, ocular, or nervous system manifestations observed in classic homocystinuria (Kelly et al., 2003).

HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY Is also known as cystathionine beta-synthase deficiency|cbs deficiency|homocystinuria with or without response to pyridoxine

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • High palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Intellectual disability and Pancreatitis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Lethargy Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Coma Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability and Pancreatitis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hepatomegaly

Uncommon Symptoms - Between 30% and 50% cases

Stroke Failure to thrive Hyperammonemia Dystonia Renal insufficiency Thrombocytopenia Nausea and vomiting Generalized hypotonia Vomiting Anemia Muscular hypotonia Feeding difficulties Immunodeficiency Fever Ataxia Dehydration Osteoporosis Cerebral edema Encephalopathy Acidosis Ketonuria Hepatic steatosis Neutropenia Hypertension Growth delay Choreoathetosis Optic atrophy Respiratory distress Aciduria

Rare Symptoms - Less than 30% cases

Metabolic acidosis Episodic vomiting Headache Depressivity Pancytopenia Spasticity Insulin resistance Hypertriglyceridemia Hypoglycemia Increased level of hippuric acid in urine Feeding difficulties in infancy Homocystinuria Episodic ataxia Elevated hepatic transaminase Ketoacidosis Ketosis Organic aciduria Methylmalonic aciduria Hyperglycinemia Ischemic stroke Cerebellar hemorrhage Postural instability Hepatic failure Edema Lactic acidosis Irritability Cerebral atrophy Tall stature Short stature Splenomegaly Diabetes mellitus Stage 5 chronic kidney disease Fatigue Abnormality of the kidney Recurrent infections Sensorineural hearing impairment Hearing impairment Reduced intrathoracic adipose tissue Cystic angiomatosis of bone Generalized muscular appearance from birth Respiratory insufficiency Precocious atherosclerosis Neurological speech impairment Nephropathy Dilatation Generalized osteoporosis Labial hypertrophy Peripheral arterial stenosis Paraparesis Spastic tetraparesis Leukopenia Macrocytic anemia Transient ischemic attack Pulmonary embolism Tetraparesis Insulin-resistant diabetes mellitus at puberty Biconcave vertebral bodies Decreased fertility Accelerated skeletal maturation Acanthosis nigricans Polycystic ovaries Lipodystrophy Hyperinsulinemia Clitoral hypertrophy Large hands Skeletal muscle hypertrophy High pitched voice Polyphagia Lipoatrophy Disproportionate tall stature Long foot Bone cyst Thick hair Acute pancreatitis Generalized lipodystrophy Decreased fertility in females Congenital generalized lipodystrophy Personality disorder Decreased serum leptin Prominent umbilicus Thromboembolism Delayed CNS myelination Cutis marmorata Hyperglycinuria Kyphoscoliosis Decreased antibody level in blood Overgrowth Nephrolithiasis Tachypnea Abnormality of immune system physiology Poor appetite Limb hypertonia Acute encephalopathy Propionyl-CoA carboxylase deficiency Developmental regression Glaucoma Intolerance to protein Inguinal hernia Propionicacidemia Pectus excavatum High palate Myopia Abnormality of the skeletal system Behavioral abnormality Aggressive behavior Pectus carinatum Tubulointerstitial nephritis Dental crowding Obsessive-compulsive behavior Ectopia lentis Brittle hair Schizophrenia Methylmalonic acidemia Tubulointerstitial abnormality Abnormal globus pallidus morphology Atherosclerosis Aspiration Myocardial infarction Arachnodactyly Chronic metabolic acidosis Metabolic ketoacidosis Mitral valve prolapse Arrhythmia Limitation of joint mobility Hypopigmentation of the skin Constipation Muscular hypotonia of the trunk Apnea Retinal detachment Eczema Carcinoma Abnormality of the genital system Fasciculations Obesity Areflexia Elevated serum creatine phosphokinase Difficulty walking Proximal muscle weakness Myalgia Distal muscle weakness Ichthyosis Waddling gait Progressive muscle weakness Exercise intolerance Myopathy Hyperlipidemia Easy fatigability Psoriasiform dermatitis Gowers sign Difficulty running Neck muscle weakness Progressive proximal muscle weakness Increased muscle lipid content Hypertonia Hyperactivity Congestive heart failure Skeletal muscle atrophy Weight loss Gout Sepsis Chorea Hemiplegia/hemiparesis Renal tubular dysfunction Tremor Dilated cardiomyopathy Retinal degeneration Renal cyst Nephronophthisis Arachnoid cyst Tubular atrophy Pain Kinetic tremor Pancreatic cysts Chronic pancreatitis Renal corticomedullary cysts Tubular basement membrane disintegration Dysarthria Abdominal pain Abnormality of movement Anorexia Muscle weakness Respiratory failure Anxiety Hypertrichosis Low plasma citrulline Acute hepatic failure Alkalosis Wide nasal base Paranoia Oroticaciduria Respiratory alkalosis Hypoargininemia Protein avoidance Hyperglutaminemia Episodic ammonia intoxication Cognitive impairment Gliosis Intellectual disability, mild Hernia Mandibular prognathia Macrotia Umbilical hernia Hypertrophic cardiomyopathy Cirrhosis Hirsutism Triangular face Epidermal acanthosis Thick lower lip vermilion Postaxial polydactyly Ophthalmoplegia Opisthotonus Nausea Tetraplegia Otitis media Hepatitis Spastic tetraplegia Hallucinations Cerebral palsy Increased intracranial pressure Growth abnormality Impulsivity Elevated plasma branched chain amino acids Confusion Depressed nasal bridge Epicanthus Peripheral neuropathy Anteverted nares Abnormality of cardiovascular system morphology Hypospadias Abnormal heart morphology Polydactyly Thin upper lip vermilion Mental deterioration Smooth philtrum Hypermethioninemia


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