Intellectual disability, severe, and Thrombocytopenia

Diseases related with Intellectual disability, severe and Thrombocytopenia

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

Top matches:

Epilepsy, hearing loss, and mental retardation syndrome is an autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. Most affected individuals are nonambulatory, cannot sit unassisted, and have no speech development. More variable features include feeding difficulties, poor growth, cortical visual impairment, spasticity, scoliosis, immunodeficiency, and thrombocytopenia (summary by Tanaka et al., 2015).

MICROCEPHALY-INTELLECTUAL DISABILITY-SENSORINEURAL HEARING LOSS-EPILEPSY-ABNORMAL MUSCLE TONE SYNDROME Is also known as microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-INTELLECTUAL DISABILITY-SENSORINEURAL HEARING LOSS-EPILEPSY-ABNORMAL MUSCLE TONE SYNDROME

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

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

Other less relevant 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

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

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

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

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL 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

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

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

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
Anemia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Vomiting Feeding difficulties Abnormal facial shape Hydrocephalus Aciduria Short stature Micrognathia Cataract High palate Muscular hypotonia Nystagmus Scoliosis Growth delay Visual impairment Hypertension Behavioral abnormality Hyperactivity Acidosis Aggressive behavior Abnormal heart morphology Atrial septal defect Ventricular septal defect Cleft palate Hepatosplenomegaly Congenital cataract Depressed nasal bridge Hepatomegaly Splenomegaly Delayed speech and language development Hypertelorism Ptosis Hip dislocation Low-set ears Leukopenia Fever Anteverted nares Low posterior hairline Renal insufficiency Ataxia Hypertonia Recurrent infections Diarrhea Muscle weakness Immunodeficiency Sensorineural hearing impairment Hypoplasia of the corpus callosum Lethargy Strabismus Neutropenia Proteinuria Cerebral cortical atrophy

Rare Symptoms - Less than 30% cases

Muscular hypotonia of the trunk Malar flattening Hypoplasia of the radius Metabolic acidosis Obesity Dementia Prominent forehead Depressivity Malabsorption Proptosis Jaundice Spasticity High forehead Perimembranous ventricular septal defect Delayed skeletal maturation Respiratory insufficiency Elevated hepatic transaminase Cognitive impairment Hypertrophic cardiomyopathy Skin rash Sepsis Absent speech Cerebellar hypoplasia Postnatal microcephaly Psychotic episodes Cerebral visual impairment Blue sclerae Glaucoma Psychosis Brachycephaly Pneumonia Recurrent urinary tract infections Clinodactyly of the 5th finger Talipes equinovarus Petechiae Abnormality of the skeletal system Cardiomyopathy Apathy Mental deterioration Short neck Arthritis Long philtrum Congenital microcephaly Systemic lupus erythematosus Purpura Phocomelia Delirium Motor delay Respiratory tract infection Autism Pulmonic stenosis Aplasia of the uterus Intellectual disability, mild Abnormal bleeding Optic atrophy Hyperreflexia Decreased antibody level in blood Pancytopenia Abnormality of the pinna Vitamin B12 deficiency Vesicoureteral reflux Abnormality of retinal pigmentation Tetralogy of Fallot Methylmalonic aciduria Megaloblastic anemia Low anterior hairline Psoriasiform dermatitis Spina bifida Irritability Agenesis of corpus callosum Hemolytic anemia Chorea Weak cry Abnormality of the nervous system Inguinal hernia Retrognathia Hirsutism Conductive hearing impairment Intellectual disability, profound Hypospadias Coma Severe global developmental delay Autistic behavior Hernia Seborrheic dermatitis Cavum septum pellucidum Cerebellar vermis hypoplasia Pancreatic cysts Megalocornea Nevus flammeus Absent radius Focal-onset seizure Ventricular hypertrophy Carpal bone hypoplasia Patellar aplasia Coarctation of aorta Fibular aplasia Fused cervical vertebrae Genu varum Broad thumb Delayed CNS myelination Chromosome breakage Cardiorespiratory arrest Adducted thumb Duodenal atresia Hemangioma Aplastic anemia Coxa valga Left ventricular hypertrophy Horseshoe kidney Patellar dislocation Carpal synostosis Eosinophilia Intracranial hemorrhage Focal impaired awareness seizure Short phalanx of finger Allergy Myopathic facies Intestinal malrotation Delusions Lateral clavicle hook Inflammation of the large intestine Interrupted aortic arch Graves disease Juvenile rheumatoid arthritis Pulmonary artery atresia Abnormality of the endocrine system Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Meningocele Mood swings Hearing abnormality Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Basal ganglia calcification Platybasia Right aortic arch Leukemia Sacral meningocele Finger syndactyly Abnormal cardiac septum morphology Abnormality of the kidney Obsessive-compulsive behavior Unilateral renal agenesis Acne Hypoplasia of the brainstem Cleft lip Edema Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Abnormality of the ear Impaired T cell function Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Conotruncal defect Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Right aortic arch with mirror image branching Pallor Generalized tonic-clonic seizures with focal onset Deep philtrum Abnormality of digit Limited elbow extension Opisthotonus Ectopic kidney 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Clubbing Proximal placement of thumb Self-injurious behavior Pyloric stenosis Short metatarsal Incoordination Hypoplastic nipples Abnormality of the urinary system Relative macrocephaly Widely spaced teeth Torticollis Spontaneous abortion Elbow flexion contracture Increased body weight Aspiration Long eyelashes Choanal atresia Hypertrichosis Renal hypoplasia High myopia Dislocated radial head Oligodactyly Microdontia Gastroparesis Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Hypertropia Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Absent hand Supernumerary ribs Ectrodactyly Hand oligodactyly Short sternum Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Esophagitis Aspiration pneumonia Hiatus hernia Poor appetite Congenital diaphragmatic hernia Otitis media Cervical ribs Shoulder muscle hypoplasia Severe short stature Clinodactyly Headache Syndactyly Abnormality of the dentition Macrocephaly Intrauterine growth retardation Myopia Wide nasal bridge Cryptorchidism Neoplasm Cow milk allergy Axial malrotation of the kidney Tetraphocomelia Narrow mouth Lactose intolerance Edema of the dorsum of feet Tibial torsion Amegakaryocytic thrombocytopenia Nevus flammeus of the forehead Aplasia/hypoplasia of the humerus Edema of the dorsum of hands Intermittent thrombocytopenia Renal malrotation Bilateral radial aplasia Meckel diverticulum Abnormality of the shoulder Aplasia/Hypoplasia of the ulna Hyperhidrosis Mandibular prognathia Webbed neck Thin vermilion border Triangular face Renal cyst Microcornea Delayed eruption of teeth Sleep disturbance Tapered finger Single transverse palmar crease Highly arched eyebrow Small hand High, narrow palate Downturned corners of mouth Pulmonary hypoplasia Thick eyebrow Cleft upper lip Gastroesophageal reflux Vertigo Astigmatism Micromelia Toe syndactyly Synophrys Small for gestational age Prominent nasal bridge Craniosynostosis Dysdiadochokinesis Postnatal growth retardation Camptodactyly Telecanthus Hypoglycemia Thin upper lip vermilion Rheumatoid arthritis Homocystinuria Cholelithiasis Alveolar proteinosis Corneal opacity Abnormality of the liver Micropenis Microphthalmia Ventriculomegaly Asterixis Argininuria Ornithinuria Protein avoidance Pulmonary hemorrhage Oroticaciduria Hyperlysinuria Abnormality of movement Micronodular cirrhosis Hemophagocytosis Increased serum ferritin Glomerulopathy Truncal obesity Malnutrition Abnormality of the coagulation cascade Glomerulonephritis Hyperextensible skin Hyperammonemia Cutis laxa Pancreatitis Generalized tonic-clonic seizures Polymicrogyria Fine hair Downslanted palpebral fissures Dry skin Arachnodactyly Genu valgum Carious teeth Pruritus Papule Erythema Hyperkeratosis Recurrent respiratory infections Abnormality of metabolism/homeostasis Short nose Increased CSF protein Tetraplegia Lissencephaly Spastic tetraparesis Microretrognathia Opacification of the corneal stroma Decreased liver function Pachygyria Tetraparesis Status epilepticus Sloping forehead Cerebral calcification Neuronal loss in central nervous system Gliosis Aminoaciduria Increased serum lactate Asthma IgM deficiency Neonatal hypotonia Myoclonus Hyporeflexia Visual loss Encephalopathy Agranulocytosis Megaloblastic bone marrow Congenital neutropenia Granulocytopenia Reticulocytopenia Abnormality of chromosome stability Stomatitis Apnea Agammaglobulinemia Abnormality of the mouth IgG deficiency Acute kidney injury IgA deficiency Macrocytic anemia Lymphopenia Abnormal muscle tone Limb hypertonia CNS hypomyelination Absence seizures EEG abnormality Intellectual disability, moderate Attention deficit hyperactivity disorder Brain atrophy Episodic ketoacidosis Postural instability Recurrent fractures Cirrhosis Nausea Stage 5 chronic kidney disease Nausea and vomiting Sparse hair Osteopenia Osteoporosis Skeletal muscle atrophy Pill-rolling tremor Recurrent singultus Nonketotic hyperglycinemia Hypsarrhythmia Posterior fossa cyst Hyperglycinuria Vertical supranuclear gaze palsy Hyperglycinemia Ketoacidosis Restlessness Infantile spasms Spastic diplegia Impulsivity Poor suck Limb ataxia Choreoathetosis Palmoplantar keratoderma Convex nasal ridge Nasal speech Abnormality of macular pigmentation Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Chronic hemolytic anemia Abnormality of cardiovascular system morphology Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Myelopathy Cor pulmonale Thromboembolism Disproportionate tall stature Ectopia lentis Hemiplegia Slurred speech Cerebellar atrophy Patent ductus arteriosus Anorexia Peripheral demyelination Abnormality of the hand Schizophrenia Arnold-Chiari malformation Bicuspid aortic valve Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Hypocalcemia Hallucinations Renal dysplasia Open mouth Primary amenorrhea Amenorrhea Posteriorly rotated ears Specific learning disability Renal agenesis Underdeveloped nasal alae Bifid uvula Bulbous nose Dysmetria Anal atresia Autoimmunity Blepharophimosis Anxiety Umbilical hernia Hypothyroidism Atherosclerosis Broad-based gait Dehydration Osteomyelitis Abnormality of the middle ear White forelock Concave nasal ridge Chronic lung disease Hypoplasia of the zygomatic bone Prolonged neonatal jaundice Abnormality of the immune system Aplasia/Hypoplasia of the skin Abnormality of the hip bone Elevated erythrocyte sedimentation rate Increased antibody level in blood Reduced bone mineral density Facial hirsutism Abnormality of the fingernails Generalized hirsutism Recurrent pneumonia Bilateral single transverse palmar creases Skin ulcer Lymphedema Abnormal lung morphology Thin skin Inflammatory abnormality of the skin Depressed nasal ridge Cutaneous photosensitivity Hepatitis Poliosis Crusting erythematous dermatitis Pulmonary arterial hypertension Unsteady gait Abnormality of extrapyramidal motor function Pigmentary retinopathy Memory impairment Urinary incontinence Hepatic steatosis Hematuria Nephropathy Joint hypermobility Long face Abnormality of skin pigmentation Retinal degeneration Paresthesia Confusion Diffuse telangiectasia Smooth philtrum Lower limb muscle weakness Retinopathy Feeding difficulties in infancy Difficulty walking Macrotia Reduced visual acuity Gait ataxia Weight loss Congestive heart failure Tremor Recurrent cystitis Dysplastic tricuspid valve


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