Intellectual disability, severe, and Diarrhea

Diseases related with Intellectual disability, severe and Diarrhea

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

Top matches:

Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.

TRANSCOBALAMIN DEFICIENCY Is also known as transcobalamin ii deficiency|inherited deficiency of transcobalamin|tc ii deficiency|tcn2 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSCOBALAMIN DEFICIENCY

The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

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 INTOLERANCE

Other less relevant matches:

Medium match PROLIDASE DEFICIENCY

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

DUCHENNE MUSCULAR DYSTROPHY Is also known as dmd|duchenne muscular dystrophy|severe dystrophinopathy, duchenne type|muscular dystrophy, pseudohypertrophic progressive, duchenne type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DUCHENNE MUSCULAR DYSTROPHY

Medium match MGAT2-CDG

MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).

MGAT2-CDG Is also known as cdg2a|cdgiia|cdg syndrome type iia|congenital disorder of glycosylation type iia|carbohydrate deficient glycoprotein syndrome type iia|n-acetylglucosaminyltransferase 2 deficiency|cdg-iia|alkuraya syndrome|carbohydrate-deficient glycoprotein syndrome, typ

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MGAT2-CDG

Medium match MENKES DISEASE

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.

OCCIPITAL HORN SYNDROME Is also known as eds ix, formerly|eds ix|ehlers-danlos syndrome type ix|ehlers-danlos syndrome type 9|x-linked cutis laxa|ehlers-danlos syndrome, occipital horn type, formerly|eds9, formerly|cutis laxa, x-linked, formerly

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OCCIPITAL HORN SYNDROME

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Diarrhea

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Diarrhea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Behavioral abnormality Vomiting Failure to thrive Hearing impairment Hepatomegaly Splenomegaly Pectus excavatum Microcephaly Skeletal muscle atrophy Dilatation Delayed speech and language development Motor delay Abnormal facial shape Muscle weakness Downslanted palpebral fissures High forehead Recurrent respiratory infections Coarse hair Ptosis High palate Intellectual disability, mild Hyperactivity Hirsutism Brachycephaly Long philtrum Sparse hair Growth delay Hyperextensible skin Cutis laxa Cognitive impairment Fine hair Convex nasal ridge Osteoporosis Cerebral atrophy Scoliosis Jaundice Osteopenia Progressive neurologic deterioration Joint laxity Hernia Ataxia Anemia Recurrent infections Thrombocytopenia Chronic diarrhea Respiratory tract infection Hydronephrosis Inguinal hernia

Rare Symptoms - Less than 30% cases

Hepatitis Osteomyelitis Prolonged neonatal jaundice Nystagmus Abnormality of the skeletal system Pain Flexion contracture Cardiomyopathy Blindness Venous insufficiency Dehydration Coxa valga Kyphosis Dry skin Genu valgum Hypothermia Erythema Platyspondyly Hepatosplenomegaly Widely spaced teeth Pectus carinatum Abnormality of metabolism/homeostasis Short nose Depressed nasal bridge Poor suck Bladder diverticulum Wormian bones Atypical scarring of skin Hypertonia Low hanging columella Open mouth Cryptorchidism Everted lower lip vermilion Severe global developmental delay Wide mouth Postnatal growth retardation Pes planus Spasticity Gastroesophageal reflux Hypertelorism Macrotia Posteriorly rotated ears Umbilical hernia Short neck Exostoses Ventricular septal defect Developmental regression Narrow chest Gastroparesis Specific learning disability Macroglossia Falls Joint hyperflexibility Sparse scalp hair Abnormality of the face Nyctalopia Scarring Constipation Intellectual disability, progressive Micrognathia Gingival overgrowth Respiratory insufficiency Proteinuria Brain atrophy Thickened calvaria Dysostosis multiplex Renal insufficiency Neutropenia Coarse facial features Systemic lupus erythematosus Abnormal bleeding Visceromegaly Feeding difficulties Abnormality of the coagulation cascade Acute kidney injury Delayed skeletal maturation Recurrent fractures Cerebral cortical atrophy Malabsorption Nausea and vomiting Dementia Aciduria Leukopenia Pneumonia Short palm Aspartylglucosaminuria Cerebral calcification Hip dysplasia High, narrow palate Bruising susceptibility Dysphagia Joint hypermobility Brachydactyly Hip dislocation Long face Talipes equinovarus Dolichocephaly Abnormality of the pinna Pulmonary hemorrhage Dental crowding Blue sclerae Orthostatic hypotension Premature skin wrinkling Esophagitis Down-sloping shoulders Abnormality of the skull Hiatus hernia Carpal synostosis Soft skin Short clavicles Short humerus Dislocated radial head Osteomalacia Limited elbow extension Cholestasis Delayed cranial suture closure Rickets Bilateral ptosis Redundant skin Immunodeficiency Osteolysis Coxa vara Narrow face Oligosacchariduria Large fontanelles Recurrent urinary tract infections Angiofibromas Cranial asymmetry Spondylolysis Decreased antibody level in blood Wide nose Irritability Mental deterioration Lethargy Gait ataxia Myoclonus Visual loss Edema Anteverted nares Gait disturbance Hyperreflexia Cataract Therapeutic abortion Generalized myoclonic seizures Metaphyseal spurs Abnormal carotid artery morphology Hypocupremia Multiple joint dislocation Spontaneous hematomas Arterial stenosis Trichorrhexis nodosa Pancytopenia Aplasia/Hypoplasia of the abdominal wall musculature Chondrocalcinosis Pili torti Woolly hair Ascites Gliosis Angiokeratoma corporis diffusum Palpebral edema Methemoglobinemia Angiokeratoma Generalized joint laxity Hypoplastic frontal sinuses Adenoma sebaceum Facial edema Vacuolated lymphocytes Abnormality of the ovary Spondylolisthesis Broad face Macroorchidism Beaking of vertebral bodies Muscle fibrillation Neuronal loss in central nervous system Pathologic fracture Emotional lability Acne Abnormality of the nervous system Hoarse voice Aspiration Hydrops fetalis Involuntary movements Mitral regurgitation Thick lower lip vermilion Psychosis Overgrowth Abnormality of the wrist Aplastic clavicle Broad ribs Pointed chin Rocker bottom foot Cupped ear Bifid scrotum Aplasia/Hypoplasia of the cerebellum Sparse eyebrow Pyloric stenosis Abnormality of the genitourinary system Drooling Aplasia/Hypoplasia of the corpus callosum Cutaneous syndactyly Absence seizures Postnatal microcephaly Ectopic kidney Aganglionic megacolon Abnormality of the genital system Recurrent otitis media Coarctation of aorta Sloping forehead Tetralogy of Fallot Febrile seizures Focal-onset seizure Otitis media Esotropia Vesicoureteral reflux Abdominal distention Hallux valgus Supernumerary nipple Tapered finger Prominent nasal tip Pulmonary artery sling Large basal ganglia Abnormal morphology of the hippocampus Abnormal eye morphology Generalized muscle hypertrophy Uplifted earlobe Atypical absence seizures Happy demeanor Deep plantar creases Subglottic stenosis Broad eyebrow Esodeviation Submucous cleft hard palate Broad columella Broad hallux phalanx Large earlobe Bruxism Abnormality of the gastrointestinal tract Tracheal stenosis Misalignment of teeth Chronic constipation Abnormal eyebrow morphology Pulmonary artery stenosis External ear malformation Drowsiness Delayed eruption of teeth Iris coloboma Prominent superficial veins Aplasia/hypoplasia of the humerus Strabismus Humerus varus Carotid artery tortuosity Aortic rupture Abnormality of esophagus physiology Ureteral obstruction Persistent open anterior fontanelle Limited knee extension Bladder carcinoma Pelvic bone exostoses Rudimentary to absent tibiae Capitate-hamate fusion Epicanthus Abnormality of the pubic bone Large iliac wings Broad clavicles Long neck Synostosis of joints Absent tibia Abnormality of the sense of smell Keloids Thick hair Femoral hernia Abnormality of fibula morphology Avascular necrosis of the capital femoral epiphysis Cleft palate Wide nasal bridge Cleft upper lip Mandibular prognathia Pulmonic stenosis Abnormality of the cerebral white matter Neurological speech impairment Finger syndactyly Short philtrum Camptodactyly of finger Abnormal cardiac septum morphology Coloboma Abnormality of the kidney Telecanthus Anxiety Deeply set eye Agenesis of corpus callosum Fever Abnormal heart morphology Patent ductus arteriosus Depressivity Hypospadias Absent speech Abnormality of cardiovascular system morphology Microphthalmia Syndactyly Atrial septal defect Hypoplasia of the corpus callosum Ventriculomegaly Frontal bossing Lymphopenia Metaphyseal widening Macrocytic anemia Stage 5 chronic kidney disease Proximal muscle weakness EEG abnormality Dyspnea Respiratory failure Elevated serum creatine phosphokinase Hyporeflexia Arrhythmia Acidosis Congestive heart failure Myopathy Hypertension Nausea Hyperlordosis Cirrhosis Metabolic acidosis Recurrent cystitis Diffuse telangiectasia Crusting erythematous dermatitis Facial hirsutism Poliosis Abnormality of the middle ear White forelock Concave nasal ridge Chronic lung disease Abnormality of the eye Distal muscle weakness Coma Exercise intolerance Exertional dyspnea Difficulty climbing stairs Abnormality of color vision Calf muscle hypertrophy Toe walking Myotonia Congenital muscular dystrophy Gowers sign Limb-girdle muscular dystrophy Hypokalemia Ventricular arrhythmia Progressive muscle weakness Attention deficit hyperactivity disorder Thickened ribs Waddling gait Sudden cardiac death Chest pain Ovoid thoracolumbar vertebrae Distal amyotrophy Dense calvaria Limb muscle weakness Dilated cardiomyopathy Muscular dystrophy Cough Hypoplasia of the zygomatic bone Abnormality of the immune system Hypoventilation Truncal obesity Papule Skin rash Hyperammonemia Elevated hepatic transaminase Glomerulonephritis Proptosis Hyperkeratosis Prominent forehead Obesity Malnutrition Malar flattening Glomerulopathy Carious teeth Increased serum ferritin Hemophagocytosis Visual impairment Micronodular cirrhosis Hyperlysinuria Psychotic episodes Alveolar proteinosis Oroticaciduria Asterixis Argininuria Ornithinuria Pruritus Pancreatitis Aplasia/Hypoplasia of the skin Skin ulcer Abnormality of the hip bone Elevated erythrocyte sedimentation rate Petechiae Increased antibody level in blood Psoriasiform dermatitis Reduced bone mineral density Abnormality of the fingernails Generalized hirsutism Recurrent pneumonia Bilateral single transverse palmar creases Low anterior hairline Lymphedema Arachnodactyly Abnormality of retinal pigmentation Abnormal lung morphology Thin skin Inflammatory abnormality of the skin Depressed nasal ridge Cutaneous photosensitivity Low posterior hairline Postural instability Increased serum lactate Asthma Palmoplantar keratoderma Aminoaciduria Difficulty running Abnormal EKG Abnormality of lipid metabolism Fatigue Neurodegeneration Agammaglobulinemia Megaloblastic anemia Feeding difficulties in infancy Methylmalonic aciduria Stomatitis Hypoglycemia IgM deficiency Abnormality of chromosome stability Reticulocytopenia Cerebellar atrophy Intrauterine growth retardation Sepsis Dysarthria Granulocytopenia Congenital neutropenia Midfrontal capillary hemangioma Type II transferrin isoform profile Reduced factor XII activity Reduced factor XI activity Reduced factor IX activity Abnormal isoelectric focusing of serum transferrin Reduced antithrombin III activity Thoracolumbar kyphoscoliosis Hypopigmentation of the skin Full cheeks Diastema Spastic tetraparesis Hypopigmentation of hair Tarsal synostosis Prominent occiput Opisthotonus Myopathic facies Cerebral hemorrhage Mask-like facies Protein avoidance Intracranial hemorrhage Abnormal palate morphology Shock Joint dislocation Chorea IgA deficiency Thickened skin IgG deficiency Bowing of the long bones Abnormality of the metaphysis Choreoathetosis Abnormality of the mouth Tetraparesis Intellectual disability, profound Generalized-onset seizure Gastrointestinal hemorrhage Macrodontia Abnormality of the rib cage Myoglobinuria Calf muscle pseudohypertrophy Restlessness Asymmetric septal hypertrophy Macrocephaly Peripheral neuropathy Sensorineural hearing impairment Heparan sulfate excretion in urine Absent muscle dystrophin expression Red-green dyschromatopsia Nocturnal hypoventilation Hemiatrophy Proximal lower limb amyotrophy Muscle fiber necrosis Growth abnormality Central nervous system degeneration Shoulder girdle muscle atrophy Proximal muscle weakness in lower limbs Intestinal pseudo-obstruction Gastrointestinal dysmotility Breech presentation Congenital stationary night blindness Shoulder girdle muscle weakness Limb-girdle muscle weakness Chromosome breakage Male pseudohermaphroditism Abnormality of the dentition Recurrent upper respiratory tract infections Volvulus Bilateral sensorineural hearing impairment Megaloblastic bone marrow Self-mutilation Protruding tongue Slender long bone Narrow nasal bridge Proximal placement of thumb Vitamin B12 deficiency Agranulocytosis Stereotypy Tall stature Long eyelashes Thick eyebrow Limb ataxia Thin vermilion border Unsteady gait Prominent nasal bridge Joint stiffness Corneal opacity Aggressive behavior Thin upper lip vermilion Synophrys Retrognathia Kyphoscoliosis Sleep disturbance Split hand Aplasia/Hypoplasia of the cerebral white matter


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