Intellectual disability, severe, and Pancreatitis
Diseases related with Intellectual disability, severe and Pancreatitis
In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Pancreatitis that can help you solving undiagnosed cases.
Top matches:
High match LYSINURIC PROTEIN INTOLERANCE
Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.
LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii
Related symptoms:
- Intellectual disability
- Short stature
- Generalized hypotonia
- Failure to thrive
- Muscle weakness
SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about LYSINURIC PROTEIN INTOLERANCEHigh match MEHMO SYNDROME
MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.
MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about MEHMO SYNDROMEVitamin 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
More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0
Other less relevant matches:
Medium match PERMANENT NEONATAL DIABETES MELLITUS
Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.
PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm
Related symptoms:
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Ataxia
- Failure to thrive
More info about PERMANENT NEONATAL DIABETES MELLITUS
Medium match JOHANSON-BLIZZARD SYNDROME
Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.
JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about JOHANSON-BLIZZARD SYNDROMEMedium match SIMPSON-GOLABI-BEHMEL SYNDROME
Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.
SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
SOURCES: ORPHANET OMIM MENDELIAN
More info about SIMPSON-GOLABI-BEHMEL SYNDROMEMedium match NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1
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
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
More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-
Medium match NEUTRAL LIPID STORAGE MYOPATHY
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 MYOPATHYMedium match CLASSIC MAPLE SYRUP URINE DISEASE
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 DISEASETop 5 symptoms//phenotypes associated to Intellectual disability, severe and Pancreatitis
| Symptoms // Phenotype | % cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Muscular hypotonia | Common - Between 50% and 80% cases |
| Global developmental delay | Common - Between 50% and 80% cases |
| Hepatomegaly | Common - Between 50% and 80% cases |
| Generalized hypotonia | Common - Between 50% and 80% cases |
Other less frequent symptoms
Patients with Intellectual disability, severe and Pancreatitis. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Seizures Hearing impairment Coma Cardiomyopathy Short stature Anemia Hypertension Failure to thrive Nausea and vomiting Renal insufficiency Growth delay Cryptorchidism Hyperammonemia Cleft lip Obesity Hypospadias Diabetes mellitus Hypoglycemia Downturned corners of mouth Abnormal heart morphology Sensorineural hearing impairment Hypoplasia of penis Lethargy Feeding difficulties Acidosis Thrombocytopenia SplenomegalyRare Symptoms - Less than 30% cases
Thick vermilion border Dystonia Respiratory distress Optic atrophy Intestinal malrotation Widely spaced teeth Growth hormone deficiency Broad nasal tip Hydroureter Lactic acidosis Hepatic failure Fatigue Delayed skeletal maturation Difficulty walking Muscle weakness Micropenis Hyperactivity Osteoporosis Neutropenia Choreoathetosis Hypertonia Glycosuria Skeletal muscle atrophy Ventricular septal defect Cognitive impairment Atrial septal defect Abnormality of the dentition Short nose Abnormality of cardiovascular system morphology Ketonuria Clinodactyly of the 5th finger Upslanted palpebral fissure Renal tubular dysfunction Hypothyroidism Dehydration Elevated hepatic transaminase Hydronephrosis Weight loss Intrauterine growth retardation Dilated cardiomyopathy Ataxia Vomiting Long philtrum Small for gestational age Malabsorption Micrognathia Talipes equinovarus Postural instability Microcephaly Irritability Abnormal facial shape Stage 5 chronic kidney disease Cleft palate Strabismus Spasticity Renal cyst Nausea Pulmonic stenosis Toe syndactyly Abnormal lung lobation Congenital cataract Enlarged kidney Facial asymmetry Congenital diaphragmatic hernia Cleft upper lip Neuroblastoma Short palm Transposition of the great arteries Short distal phalanx of finger Wide nose Broad palm Postaxial polydactyly High, narrow palate Thin vermilion border Neurological speech impairment Broad foot Coarse facial features Agenesis of corpus callosum Polydactyly Renal neoplasm Proptosis Mandibular prognathia Polyhydramnios Duodenal atresia Umbilical hernia Low hanging columella Low-set, posteriorly rotated ears Diastasis recti Polysplenia Wide mouth Camptodactyly of finger Abnormality of digit Finger syndactyly Retinal detachment Bundle branch block Vertebral fusion Abnormality of the genital system Preauricular skin tag Dental malocclusion Cerebral visual impairment Tall stature Renal dysplasia Broad thumb Webbed neck Clumsiness Bifid uvula Nail dysplasia Dandy-Walker malformation Omphalocele Cerebellar vermis hypoplasia Overgrowth Small nail Abnormality of the ribs Short toe Hoarse voice Vertebral segmentation defect Cupped ear Prolonged QT interval Short foot Supernumerary nipple Postaxial hand polydactyly Bilateral talipes equinovarus Large for gestational age Preauricular pit Nephroblastoma Cardiac arrest Abnormality of the voice Abnormality of the hand Relative macrocephaly Accelerated skeletal maturation Macroglossia Narrow palpebral fissure Multicystic kidney dysplasia Congenital hip dislocation Impulsivity Short 2nd finger Furrowed tongue Ichthyosis Exercise intolerance Fasciculations Insulin resistance Progressive muscle weakness Ketosis Hypertriglyceridemia Ketoacidosis Waddling gait Hepatic steatosis Distal muscle weakness Easy fatigability Myalgia Proximal muscle weakness Episodic ataxia Elevated serum creatine phosphokinase Areflexia Recurrent infections Congestive heart failure Myopathy Pain Hyperlipidemia Psoriasiform dermatitis Abnormality of movement Feeding difficulties in infancy Increased intracranial pressure Cerebral palsy Hallucinations Spastic tetraplegia Hepatitis Otitis media Opisthotonus Tetraplegia Ophthalmoplegia Anxiety Gowers sign Respiratory failure Encephalopathy Depressivity Headache Fever Increased muscle lipid content Progressive proximal muscle weakness Neck muscle weakness Difficulty running Anorexia Stroke Abnormality of the helix Embryonal neoplasm Broad secondary alveolar ridge Narrow sacroiliac notch 2-3 finger syndactyly Increased level of hippuric acid in urine Posterior helix pit Short sacroiliac notch Growth abnormality Penoscrotal hypospadias Broad toe Hepatoblastoma Arrhythmia Meckel diverticulum Cervical ribs Pancreatic islet-cell hyperplasia Chordee Increased IgE level Ankyloglossia Ureteral duplication Aplasia/Hypoplasia of the abdominal wall musculature Flared iliac wings Nephroblastomatosis Birth length greater than 97th percentile Abdominal pain Gout Immunodeficiency Dysarthria Tubular basement membrane disintegration Renal corticomedullary cysts Chronic pancreatitis Pancreatic cysts Kinetic tremor Tubular atrophy Cerebral edema Arachnoid cyst Penoscrotal transposition Nephronophthisis Retinal degeneration Abnormality of the kidney Tremor Two carpal ossification centers present at birth Cyst of the ductus choledochus Cleft lower lip Submucous cleft lip Six lumbar vertebrae Duplication of renal pelvis Inguinal hernia Hypoplastic nipples Patent ductus arteriosus Long face Lower limb spasticity Open mouth Tetraparesis Sloping forehead Round face Full cheeks Tapered finger Inability to walk Poor speech Spastic tetraparesis Delayed puberty Severe global developmental delay Attention deficit hyperactivity disorder Muscular hypotonia of the trunk Aggressive behavior EEG abnormality Macrotia Autism Progressive microcephaly Drooling Hypogonadism Hemiplegia/hemiparesis Bilateral ptosis Apraxia Generalized myoclonic seizures Peripheral axonal neuropathy Arthrogryposis multiplex congenita Generalized tonic-clonic seizures Retinopathy Motor delay Chorea Agitation Sepsis Tall chin Birth length less than 3rd percentile Abdominal obesity Male hypogonadism Large earlobe Depressed nasal tip External genital hypoplasia Gait ataxia Babinski sign Neurodevelopmental delay Brain atrophy Systemic lupus erythematosus Hyperextensible skin Cutis laxa Leukopenia Aminoaciduria Fine hair Aciduria Increased serum lactate Abnormal bleeding Abnormality of the coagulation cascade Recurrent fractures Metabolic acidosis Cirrhosis Sparse hair Jaundice Osteopenia Diarrhea Respiratory insufficiency Glomerulonephritis Malnutrition Absent speech Ornithinuria Hypoplasia of the corpus callosum Ventriculomegaly Myopia Hyperreflexia Delayed speech and language development Nystagmus Asterixis Argininuria Protein avoidance Truncal obesity Pulmonary hemorrhage Oroticaciduria Alveolar proteinosis Psychotic episodes Hyperlysinuria Micronodular cirrhosis Hemophagocytosis Increased serum ferritin Glomerulopathy Hyperglycemia Prominent metopic ridge Pectus excavatum Abnormal vagina morphology Absent lacrimal punctum Increased VLDL cholesterol concentration Colonic diverticula Abnormality of the nares Uterus didelphys Frontal upsweep of hair Skin dimples Aplasia cutis congenita of scalp Lacrimation abnormality Anasarca Abnormality of the pancreas Rectovaginal fistula Hypoproteinemia Abnormal hair pattern Calvarial skull defect Fair hair Exocrine pancreatic insufficiency Anal stenosis Septate vagina Malrotation of small bowel Hypopituitarism Macrocephaly Hernia Syndactyly Blindness Hydrocephalus Short neck Anteverted nares Abnormality of the skeletal system Downslanted palpebral fissures Wide nasal bridge Abnormality of the female genitalia Epicanthus Depressed nasal bridge Cataract Neoplasm Hypertelorism Scoliosis Midline skin dimples over anterior/posterior fontanelles Hypoplasia of the primary teeth Urethrovaginal fistula Facial cleft Anteriorly placed anus Autoimmune antibody positivity Alopecia Single transverse palmar crease Anal atresia Hypotrichosis Abnormal cardiac septum morphology Abnormality of the liver Postnatal growth retardation Joint laxity Severe short stature Dilatation Hypoplasia of the maxilla Edema Reduced pancreatic beta cells Contractures of the joints of the lower limbs Neonatal insulin-dependent diabetes mellitus Pancreatic hypoplasia Hypovolemia Microalbuminuria Abnormality of the upper urinary tract Delayed eruption of teeth Abdominal distention Agenesis of permanent teeth Hyperbilirubinemia Steatorrhea Dextrocardia Congenital sensorineural hearing impairment Clitoral hypertrophy Portal hypertension Abnormality of the genitourinary system Oligodontia Severe muscular hypotonia Pointed chin Generalized muscle weakness Hypocalcemia Abnormality of the nail Situs inversus totalis Cafe-au-lait spot Cholestasis Sparse scalp hair Microdontia Convex nasal ridge Underdeveloped nasal alae Elevated plasma branched chain amino acidsIf you liked 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