Intellectual disability, severe, and Hemolytic anemia

Diseases related with Intellectual disability, severe and Hemolytic anemia

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


Top matches:

Medium match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


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

Medium match VELOCARDIOFACIAL SYNDROME


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

Medium match TRANSCOBALAMIN DEFICIENCY


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

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Other less relevant matches:

Medium match LEIGH SYNDROME WITH LEUKODYSTROPHY


LEIGH SYNDROME WITH LEUKODYSTROPHY Is also known as leigh disease with leukodystrophy|infantile subacute necrotizing encephalopathy with leukodystrophy

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about LEIGH SYNDROME WITH LEUKODYSTROPHY

Medium match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3


OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3 Is also known as carbonic anhydrase ii deficiency|guibaud-vainsel syndrome|marble brain disease|osteopetrosis with renal tubular acidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3

Medium 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 INTOLERANCE

Medium match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


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

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

Medium match JOUBERT SYNDROME WITH OCULORENAL DEFECT


Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

JOUBERT SYNDROME WITH OCULORENAL DEFECT Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia|arima syndrome|js-or|js type b|cerebellooculorenal syndrome|joubert syndrome with senior-loken syndrome|cors|joubert syndrome with bilateral chorioretinal coloboma|cerebrooculohepatorenal syndrome|de

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULORENAL DEFECT

Medium match ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX


ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

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

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% 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
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Thrombocytopenia

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Visual impairment Failure to thrive Abnormal facial shape Muscular hypotonia Vomiting Hepatosplenomegaly Acidosis Renal insufficiency Hepatomegaly Short stature Muscle weakness Hearing impairment Microcephaly Nystagmus Congenital cataract Metabolic acidosis Strabismus Spasticity Ptosis Ataxia Splenomegaly Diarrhea Hypertelorism Anteverted nares Aciduria Recurrent infections High palate Hydrocephalus Feeding difficulties Ventricular septal defect Low-set ears Cataract

Rare Symptoms - Less than 30% cases


Scoliosis Psychotic episodes Cognitive impairment Perimembranous ventricular septal defect Basal ganglia calcification Hypoplasia of the brainstem Psoriasiform dermatitis Purpura Abnormality of cardiovascular system morphology Multicystic kidney dysplasia Low posterior hairline Renal agenesis Delayed speech and language development Fever Umbilical hernia Hypospadias Behavioral abnormality Obesity Immunodeficiency Posteriorly rotated ears Aganglionic megacolon Irritability Micrognathia Malar flattening Short nose Depressed nasal bridge Petechiae Pachygyria Skin rash Abnormality of the liver Elevated hepatic transaminase Micropenis Hypertonia Systemic lupus erythematosus Abnormal bleeding Stage 5 chronic kidney disease Jaundice Vitamin B12 deficiency Abnormal lung morphology Cerebral calcification Dental malocclusion Abnormality of movement Apnea Hypertrophic cardiomyopathy Abnormality of metabolism/homeostasis Leukopenia Hyperreflexia Increased serum lactate Mental deterioration Malabsorption High forehead Megaloblastic anemia Neutropenia Pancytopenia Long face Hepatic steatosis Psychosis Cerebral cortical atrophy Methylmalonic aciduria Dementia Recurrent urinary tract infections Depressivity Nephropathy Abnormality of retinal pigmentation Respiratory insufficiency Lethargy Apathy Arthritis Pigmentary retinopathy Proteinuria Prolonged neonatal jaundice Palmoplantar keratoderma Hirsutism Dry skin Arachnodactyly Genu valgum Carious teeth Pruritus Generalized hirsutism Papule Asthma Chronic lung disease Erythema Concave nasal ridge White forelock Abnormality of the middle ear Poliosis Proptosis Hypoplasia of the zygomatic bone Dehydration Convex nasal ridge Elevated erythrocyte sedimentation rate Abnormality of the fingernails Bilateral single transverse palmar creases Reduced bone mineral density Low anterior hairline Osteomyelitis Skin ulcer Increased antibody level in blood Lymphedema Recurrent pneumonia Abnormality of the hip bone Thin skin Aplasia/Hypoplasia of the skin Inflammatory abnormality of the skin Depressed nasal ridge Cutaneous photosensitivity Hepatitis Abnormality of the immune system Hyperkeratosis Intellectual disability, mild Prominent forehead Argininuria Reduced visual acuity Cerebellar hypoplasia Microphthalmia Long philtrum Macrotia Cardiomyopathy Difficulty walking Ventriculomegaly Asterixis Ornithinuria Gait ataxia Protein avoidance Pulmonary hemorrhage Oroticaciduria Alveolar proteinosis Hyperlysinuria Micronodular cirrhosis Hemophagocytosis Increased serum ferritin Glomerulopathy Truncal obesity Muscular hypotonia of the trunk Weight loss Recurrent respiratory infections Cerebral visual impairment Tremor Congestive heart failure Crusting erythematous dermatitis Downslanted palpebral fissures Congenital microcephaly Increased CSF protein Lissencephaly Spastic tetraparesis Microretrognathia Opacification of the corneal stroma Decreased liver function Corneal opacity Postnatal microcephaly Tetraparesis Status epilepticus Intellectual disability, profound Sloping forehead Neuronal loss in central nervous system Gliosis Tetraplegia Polymicrogyria Generalized tonic-clonic seizures Facial hirsutism Methylmalonic acidemia Diffuse telangiectasia Intellectual disability, moderate Abnormality of the genital system Thick lower lip vermilion Ambiguous genitalia Macroglossia Tapered finger Everted lower lip vermilion Thick vermilion border Flat face Microtia Postnatal growth retardation Telecanthus Coxa valga Hydronephrosis Kyphoscoliosis Gastroesophageal reflux Abdominal pain Pneumonia Constipation Clinodactyly Midface retrusion Cerebral atrophy Talipes equinovarus Dysphagia Aspiration Hemivertebrae Brachydactyly Decreased serum testosterone level Hemoglobin H Endometriosis Reduced alpha/beta synthesis ratio Widely-spaced maxillary central incisors Triangular mouth Absent frontal sinuses U-Shaped upper lip vermilion Abnormal hemoglobin Ileus Hypochromic microcytic anemia Volvulus Drooling Chronic constipation Facial hypotonia Male pseudohermaphroditism Shawl scrotum Protruding tongue Microcytic anemia Hydroureter Spastic diplegia Radial deviation of finger Tented upper lip vermilion Infantile muscular hypotonia Wide nasal bridge Epicanthus Recurrent cystitis Renal cyst Polycystic kidney dysplasia Aplasia/Hypoplasia of the corpus callosum Tachypnea Intellectual disability, progressive Hepatic fibrosis Hypertension Heterotopia Encephalocele Cerebellar vermis hypoplasia Postaxial hand polydactyly Highly arched eyebrow Polydipsia Retinal dystrophy Iris coloboma Severe global developmental delay Prominent nasal bridge Coloboma Wide mouth Autistic behavior Abnormality of the kidney Malnutrition Dyspnea Blindness Hand polydactyly Chorioretinal coloboma Flexion contracture Congenital hepatic fibrosis Cryptorchidism Pain Sensorineural hearing impairment Renal sodium wasting Brainstem dysplasia Occipital meningocele Multiple small medullary renal cysts Renal corticomedullary cysts Aplasia/Hypoplasia of the cerebellar vermis Tubulointerstitial fibrosis Dilated fourth ventricle Agenesis of cerebellar vermis Polyuria Abnormality of the hypothalamus-pituitary axis Undetectable electroretinogram Tubular atrophy Postaxial foot polydactyly Foot polydactyly Severe vision loss Congenital blindness Biparietal narrowing Nephronophthisis Molar tooth sign on MRI Abnormality of neuronal migration Low-set, posteriorly rotated ears Fine hair Abnormality of the coagulation cascade Hypocalcemia Dysdiadochokinesis Cholelithiasis Nasal speech Abnormality of the hand Schizophrenia Arnold-Chiari malformation Bicuspid aortic valve Holoprosencephaly Broad-based gait Narrow palpebral fissure Spina bifida Pulmonary arterial hypertension Hallucinations Renal dysplasia Open mouth Primary amenorrhea Anorexia Tetralogy of Fallot Peripheral demyelination Amenorrhea Specific learning disability Underdeveloped nasal alae Rheumatoid arthritis Obsessive-compulsive behavior Chorea Vitiligo Pulmonary artery atresia Abnormality of the endocrine system Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Delusions Meningocele Hearing abnormality Hypoparathyroidism Bipolar affective disorder Unilateral renal agenesis Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Abnormality of the ear Myopathic facies Inflammation of the large intestine Acne Vesicoureteral reflux Bifid uvula Seborrheic dermatitis Diffuse hepatic steatosis Short neck Cor pulmonale Homocystinuria Myelopathy Gastritis Cleft palate Right ventricular failure Hemolytic-uremic syndrome Thyroglossal cyst Cystathioninemia Decreased methylmalonyl-CoA mutase activity Atrial septal defect Hypomethioninemia Cystathioninuria Atrophy of the spinal cord Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Abnormality of macular pigmentation Hypoplasia of the corpus callosum Cerebellar atrophy Bulbous nose Retrognathia Dysmetria Anal atresia Pulmonic stenosis Autoimmunity Blepharophimosis Abnormality of the pinna Aggressive behavior Anxiety Conductive hearing impairment Atherosclerosis Hypothyroidism Thromboembolism Hyperactivity Slurred speech Inguinal hernia Abnormal heart morphology Patent ductus arteriosus Hemiplegia Ectopia lentis Hernia Absent speech Disproportionate tall stature Juvenile rheumatoid arthritis Aplasia of the uterus Glomerulonephritis Confusion Distal renal tubular acidosis Cranial hyperostosis Extramedullary hematopoiesis Osteopetrosis Poor appetite Renal tubular acidosis Osteomalacia Restrictive ventilatory defect Lower limb muscle weakness Smooth philtrum Visual loss Diaphyseal sclerosis Abnormality of the dentition Focal T2 hyperintense basal ganglia lesion Decreased activity of the pyruvate dehydrogenase complex Decreased activity of mitochondrial respiratory chain Increased CSF lactate Progressive spastic paraplegia Emotional lability Leukodystrophy Hypertrichosis Unsteady gait Proximal renal tubular acidosis Periodic hypokalemic paresis Paresthesia Cirrhosis Hyperextensible skin Hyperammonemia Cutis laxa Pancreatitis Aminoaciduria Chronic hemolytic anemia Brain atrophy Postural instability Recurrent fractures Coma Nausea Elevated serum acid phosphatase Feeding difficulties in infancy Nausea and vomiting Sparse hair Retinopathy Osteopenia Osteoporosis Delayed skeletal maturation Hip dislocation Skeletal muscle atrophy Optic nerve compression Progressive cerebellar ataxia Ophthalmoplegia Graves disease Conotruncal defect Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Velopharyngeal insufficiency Urinary incontinence Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Mood swings Platybasia Abnormality of extrapyramidal motor function Interrupted aortic arch Memory impairment Abnormality of the nervous system Retinal degeneration Reticulocytopenia Abnormality of skin pigmentation Dystonia Optic atrophy Dysarthria Peripheral neuropathy Joint hypermobility Agranulocytosis Megaloblastic bone marrow Congenital neutropenia Granulocytopenia Abnormality of chromosome stability Respiratory tract infection IgM deficiency Stomatitis Agammaglobulinemia Abnormality of the mouth IgG deficiency Acute kidney injury IgA deficiency Macrocytic anemia Hematuria Lymphopenia Decreased antibody level in blood Hypoganglionosis



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