Intellectual disability, severe, and Malabsorption

Diseases related with Intellectual disability, severe and Malabsorption

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

Top matches:

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

High 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

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 SYNDROME

Other less relevant matches:

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

High match HENNEKAM SYNDROME

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

ZELLWEGER SYNDROME Is also known as zs|cerebrohepatorenal syndrome|zws|chr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ZELLWEGER SYNDROME

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

Medium match IRIDA SYNDROME

IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.

IRIDA SYNDROME Is also known as anemia, hypochromic microcytic, with defect in iron metabolism|iron-refractory iron deficiency anemia|pseudo-iron-deficiency anemia|iron-handling disorder, hereditary

Related symptoms:

  • Intellectual disability
  • Anemia
  • Peripheral neuropathy
  • Fatigue
  • Hyperkeratosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about IRIDA SYNDROME

Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy (Dannoura et al., 1999).

FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY Is also known as lpl deficiency|anderson disease|andd|lipid transport defect of intestine|hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Growth delay
  • Failure to thrive
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Growth delay Hepatomegaly Generalized hypotonia Muscular hypotonia Anemia Cognitive impairment Respiratory insufficiency Microcephaly Diarrhea Ventricular septal defect Cryptorchidism Delayed skeletal maturation Sensorineural hearing impairment Hepatic steatosis Elevated hepatic transaminase Hydronephrosis Cataract Dilatation Fatigue Feeding difficulties in infancy Cholestasis Ataxia Steatorrhea Muscle weakness Aciduria Atrial septal defect Thrombocytopenia Glaucoma Edema Feeding difficulties Micrognathia Depressed nasal bridge Renal insufficiency Malar flattening Jaundice Talipes equinovarus Acidosis

Rare Symptoms - Less than 30% cases

Intestinal malrotation Abnormality of the dentition Hypocalcemia Severe muscular hypotonia Decreased liver function Reduced tendon reflexes Hypocupremia Hepatic failure Delayed eruption of teeth Single transverse palmar crease Areflexia Abnormal cardiac septum morphology Cleft lip Strabismus Hypertension Hypothyroidism Upslanted palpebral fissure Clinodactyly of the 5th finger Abnormal heart morphology Prolonged neonatal jaundice Hypospadias Gait ataxia Oligodontia External ear malformation Abnormality of the kidney Flat face Hepatosplenomegaly Decreased antibody level in blood Pachygyria Intellectual disability, mild Wide nasal bridge Epicanthus Hypertelorism Scoliosis Horseshoe kidney Abnormal intestine morphology Pyloric stenosis Hypoalbuminemia Slurred speech Clitoral hypertrophy Sparse scalp hair Hypoproteinemia Nystagmus Abnormal facial shape Low-set ears Visual impairment Congestive heart failure High forehead Intestinal lymphangiectasia Hip dislocation Agenesis of corpus callosum Smooth philtrum Anteverted nares Abnormality of the skeletal system Pigmentary retinopathy Intracranial hemorrhage Finger syndactyly Brachycephaly Motor delay Recurrent fractures Fat malabsorption Fine hair Sepsis Malnutrition Aminoaciduria Narrow chest Cirrhosis Severe global developmental delay Joint laxity Umbilical hernia Intrauterine growth retardation Dementia Hyperextensible skin Pectus excavatum Metabolic acidosis Cutis laxa Stage 5 chronic kidney disease Nausea and vomiting Splenomegaly Osteoporosis Peripheral neuropathy Vomiting Sparse hair Ichthyosis Pleural lymphangiectasia Pneumonia Poikilocytosis Hypochromic microcytic anemia Ptosis Genu varum Cleft palate Thyroid lymphangiectasia Pericardial lymphangiectasia Hypoplasia of the radius Cerebellar hypoplasia Mild postnatal growth retardation Focal impaired awareness seizure Absent radius Megalocornea Benign neoplasm of the central nervous system Conical incisor Severe hydrops fetalis Decreased mean corpuscular volume Eosinophilia Anisocytosis Vitamin D deficiency Broad thumb Hemangioma Pallor Microcytic anemia Coxa valga Spina bifida Short phalanx of finger Iron deficiency anemia Left ventricular hypertrophy Reticulocytosis Cerebellar vermis hypoplasia Hypolipidemia Pulmonary lymphangiectasia Ventricular hypertrophy Hyperkeratosis Coarctation of aorta Tetralogy of Fallot Intrahepatic cholestasis Focal-onset seizure Leukemia Adducted thumb Blue sclerae Ulnar deviation of the hand Lymphangioma Acanthocytosis Abnormality of the eye Spina bifida occulta Narrow palate Failure to thrive in infancy Bilateral single transverse palmar creases Joint contracture of the hand Lymphopenia Hydrops fetalis Impaired vibratory sensation Abnormality of blood and blood-forming tissues Lymphedema Reduced number of teeth Gingival overgrowth Hypocholesterolemia Vesicoureteral reflux Ascites Short foot Small hand Hirsutism Short palm Decreased LDL cholesterol concentration Lymphadenopathy Abnormality of the foot Cutaneous syndactyly Rod-cone dystrophy Erysipelas Sparse axillary hair Abnormal oral mucosa morphology Primary hypothyroidism Chylothorax Rectal prolapse Periorbital edema Carpal synostosis Decreased serum iron Protein-losing enteropathy Elevated hepcidin level Generalized edema Nonimmune hydrops fetalis Pleural effusion Arteriovenous malformation Hypoplastic iliac wing Edema of the lower limbs Polysplenia Coronal craniosynostosis Palpebral edema Increased number of teeth Cutaneous finger syndactyly Pericardial effusion Ectopic kidney Abnormality of dental morphology Nevus flammeus Delayed CNS myelination Patellar dislocation Widely patent fontanelles and sutures Multicystic kidney dysplasia Leukodystrophy Wide anterior fontanel Brachyturricephaly Rhizomelia Large fontanelles Hypoplasia of dental enamel Glutaric aciduria Heterotopia Optic disc pallor Premature birth Ulnar deviation of the hand or of fingers of the hand Opacification of the corneal stroma Renal cortical cysts Abnormal chorioretinal morphology Round face Albuminuria Macroglossia Renal cyst High, narrow palate Renal cortical microcysts Brushfield spots Pulmonary hypoplasia Polymicrogyria Nephrocalcinosis Intellectual disability, progressive Abnormality of the pinna Tapetoretinal degeneration Abnormality of the mitochondrion Labial hypoplasia Redundant neck skin Abnormality of the helix Breech presentation Thickened nuchal skin fold Bell-shaped thorax Adrenal hypoplasia Posterior embryotoxon Epiphyseal stippling Primary adrenal insufficiency Underdeveloped supraorbital ridges Abnormality of the tongue Protruding tongue Congenital glaucoma Abnormality of coagulation Abnormality of neuronal migration Metatarsus adductus Flat occiput Rocker bottom foot Hepatic cysts Cubitus valgus Polycystic kidney dysplasia Abnormal electroretinogram Aplasia/Hypoplasia of the corpus callosum Corneal opacity Hyperoxaluria Cardiorespiratory arrest Carpal bone hypoplasia Dysmetria Intermittent thrombocytopenia Renal malrotation Bilateral radial aplasia Meckel diverticulum Abnormality of the shoulder Aplasia/Hypoplasia of the ulna Cervical ribs Generalized tonic-clonic seizures with focal onset Lateral clavicle hook Phocomelia Fibular aplasia Aplasia/hypoplasia of the humerus Pancreatic cysts Cavum septum pellucidum Vertical supranuclear gaze palsy Aplasia of the uterus Fused cervical vertebrae Seborrheic dermatitis Patellar aplasia Allergy Profound global developmental delay Aplastic anemia Duodenal atresia Chromosome breakage Edema of the dorsum of hands Abnormality of the nervous system EEG abnormality Encephalopathy Skeletal dysplasia Subependymal cysts Broad forehead Posteriorly rotated ears Hyporeflexia Elevated long chain fatty acids Very long chain fatty acid accumulation Visual loss Sudanophilic leukodystrophy Intrahepatic biliary dysgenesis Patent ductus arteriosus Optic atrophy Nevus flammeus of the forehead Macrocephaly High palate Cow milk allergy Axial malrotation of the kidney Shoulder muscle hypoplasia Hypoplastic olfactory lobes Tetraphocomelia Lactose intolerance Edema of the dorsum of feet Tibial torsion Amegakaryocytic thrombocytopenia Delayed speech and language development Prominent forehead Ectopia lentis Microtia Atypical scarring of skin Multiple joint dislocation Spontaneous hematomas Arterial stenosis Venous insufficiency Trichorrhexis nodosa Bladder diverticulum Aplasia/Hypoplasia of the abdominal wall musculature Chondrocalcinosis Pili torti Woolly hair Hypothermia Exostoses Metaphyseal spurs Abnormality of lipid metabolism Hypopigmentation of hair Tarsal synostosis Prominent occiput Opisthotonus Osteomyelitis Myopathic facies Cerebral hemorrhage Mask-like facies Metaphyseal widening Coarse hair Abnormal palate morphology Abnormal carotid artery morphology Therapeutic abortion Spastic tetraparesis Downturned corners of mouth Abnormality of the nail Situs inversus totalis Cafe-au-lait spot Hypoplasia of penis Microdontia Convex nasal ridge Growth hormone deficiency Underdeveloped nasal alae Generalized muscle weakness Abdominal distention Hypoplasia of the maxilla Anal atresia Cardiomyopathy Hypotrichosis Dilated cardiomyopathy Small for gestational age Abnormality of the liver Postnatal growth retardation Micropenis Diabetes mellitus Severe short stature Alopecia Abnormality of cardiovascular system morphology Long philtrum Short nose Shock Joint dislocation Hyperbilirubinemia Abnormality of the coagulation cascade Protein avoidance Pulmonary hemorrhage Oroticaciduria Alveolar proteinosis Psychotic episodes Hyperlysinuria Micronodular cirrhosis Hemophagocytosis Increased serum ferritin Glomerulopathy Truncal obesity Glomerulonephritis Argininuria Systemic lupus erythematosus Hyperammonemia Leukopenia Pancreatitis Increased serum lactate Brain atrophy Abnormal bleeding Postural instability Coma Nausea Osteopenia Skeletal muscle atrophy Ornithinuria Asterixis Wormian bones Full cheeks Thickened skin Chronic diarrhea Abnormality of the face Bowing of the long bones Abnormality of the metaphysis Choreoathetosis Progressive neurologic deterioration Tetraparesis Intellectual disability, profound Generalized-onset seizure Gastrointestinal hemorrhage Chorea Hypopigmentation of the skin Spasticity Neurodegeneration Dry skin Joint hyperflexibility Developmental regression Hypoglycemia Inguinal hernia Hernia Cerebral atrophy Behavioral abnormality Hypertonia Cerebellar atrophy Dysarthria Pointed chin Widely spaced teeth Short philtrum Apathy Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Myelopathy Homocystinuria Methylmalonic aciduria Cor pulmonale Megaloblastic anemia Thromboembolism Disproportionate tall stature Hemiplegia Chronic hemolytic anemia Atherosclerosis Abnormality of retinal pigmentation Anorexia Recurrent urinary tract infections Broad-based gait Pulmonary arterial hypertension Psychosis Pancytopenia Abnormality of extrapyramidal motor function Memory impairment Urinary incontinence Neutropenia Methylmalonic acidemia Abnormality of macular pigmentation Nephropathy Syndactyly Camptodactyly of finger Craniosynostosis Respiratory tract infection Camptodactyly Intellectual disability, moderate Conductive hearing impairment Retrognathia Polyhydramnios Narrow mouth Hyperactivity Recurrent respiratory infections Midface retrusion Respiratory distress Delirium Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Hematuria Hemolytic anemia Abnormality of the genitourinary system Calvarial skull defect Colonic diverticula Abnormality of the nares Uterus didelphys Frontal upsweep of hair Skin dimples Aplasia cutis congenita of scalp Abnormal vagina morphology Lacrimation abnormality Abnormality of the pancreas Rectovaginal fistula Abnormal hair pattern Fair hair Absent lacrimal punctum Exocrine pancreatic insufficiency Anal stenosis Facial cleft Hypoplastic nipples Hypopituitarism Anteriorly placed anus Glycosuria Agenesis of permanent teeth Hydroureter Dextrocardia Congenital sensorineural hearing impairment Portal hypertension Increased VLDL cholesterol concentration Septate vagina Joint hypermobility Arthritis Long face Abnormality of skin pigmentation Retinal degeneration Paresthesia Unsteady gait Confusion Lower limb muscle weakness Congenital cataract Lethargy Retinopathy Mental deterioration Proteinuria Difficulty walking Anasarca Macrotia Reduced visual acuity Weight loss Cerebral cortical atrophy Depressivity Hydrocephalus Tremor Midline skin dimples over anterior/posterior fontanelles Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Abetalipoproteinemia


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