Anemia, and Intellectual disability, severe

Diseases related with Anemia and Intellectual disability, severe

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


Top matches:

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

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

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Other less relevant matches:

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

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 SYNDROME

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

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

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
Growth delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Hepatomegaly Seizures Thrombocytopenia Visual impairment Hepatosplenomegaly Abnormal facial shape Hearing impairment Renal insufficiency Microcephaly Short stature Nystagmus Strabismus Vomiting Muscle weakness Acidosis Ventricular septal defect Anteverted nares Abnormality of the liver Feeding difficulties Metabolic acidosis Splenomegaly Low-set ears Ataxia Diarrhea Elevated hepatic transaminase Hypertelorism Short nose Aciduria Micropenis Malabsorption Ptosis Spasticity

Rare Symptoms - Less than 30% cases


Nephropathy Hepatic steatosis Cerebral calcification Cerebral cortical atrophy Recurrent urinary tract infections Abnormality of the dentition Abnormal lung morphology Dental malocclusion Abnormality of cardiovascular system morphology Long face Jaundice Systemic lupus erythematosus Abnormality of retinal pigmentation Micrognathia Cataract Stage 5 chronic kidney disease High palate Hydrocephalus Long philtrum Hydroureter Delayed skeletal maturation Respiratory insufficiency Cognitive impairment Depressed nasal bridge Cardiomyopathy Hypertonia Convex nasal ridge Congenital cataract Skin rash Pancytopenia High forehead Hypospadias Methylmalonic aciduria Abnormality of metabolism/homeostasis Malar flattening Leukopenia Petechiae Abnormal bleeding Vitamin B12 deficiency Neutropenia Lethargy Cryptorchidism Irritability Proteinuria Recurrent infections Sensorineural hearing impairment Pachygyria Megaloblastic anemia Hypertrophic cardiomyopathy Postnatal growth retardation Abnormality of movement Increased serum lactate Pigmentary retinopathy Hydronephrosis Hypertension Apnea Hyperreflexia Aganglionic megacolon Abnormal cardiac septum morphology Abnormal heart morphology Alopecia Severe short stature Dilatation Growth hormone deficiency Atrial septal defect Edema Small for gestational age Fatigue Clinodactyly of the 5th finger Hypothyroidism Downturned corners of mouth Cleft lip Single transverse palmar crease Delayed eruption of teeth Joint laxity Hepatic failure Hypoplasia of the maxilla Anal atresia Diabetes mellitus Upslanted palpebral fissure Abdominal distention Generalized muscle weakness Intestinal malrotation Underdeveloped nasal alae Hypotrichosis Dilated cardiomyopathy Intrauterine growth retardation Tented upper lip vermilion Hypoganglionosis Abdominal pain Macroglossia Tapered finger Everted lower lip vermilion Thick vermilion border Flat face Microtia Intellectual disability, moderate Telecanthus Umbilical hernia Kyphoscoliosis Gastroesophageal reflux Posteriorly rotated ears Ambiguous genitalia Pneumonia Constipation Clinodactyly Midface retrusion Cerebral atrophy Talipes equinovarus Dysphagia Wide nasal bridge Brachydactyly Epicanthus Flexion contracture Pain Renal agenesis Thick lower lip vermilion Hemoglobin H Volvulus Endometriosis Reduced alpha/beta synthesis ratio Widely-spaced maxillary central incisors Triangular mouth Absent frontal sinuses U-Shaped upper lip vermilion Abnormal hemoglobin Ileus Perimembranous ventricular septal defect Hypochromic microcytic anemia Decreased serum testosterone level Chronic constipation Abnormality of the genital system Facial hypotonia Male pseudohermaphroditism Shawl scrotum Protruding tongue Microcytic anemia Spastic diplegia Radial deviation of finger Infantile muscular hypotonia Drooling Hemivertebrae Coxa valga Aspiration Microdontia Exocrine pancreatic insufficiency Hypoplasia of penis Abnormality of skin pigmentation Anorexia Broad-based gait Pulmonary arterial hypertension Psychosis Abnormality of extrapyramidal motor function Memory impairment Urinary incontinence Hematuria Hemolytic anemia Joint hypermobility Retinal degeneration Slurred speech Paresthesia Unsteady gait Confusion Smooth philtrum Lower limb muscle weakness Hip dislocation Retinopathy Feeding difficulties in infancy Mental deterioration Arthritis Difficulty walking Atherosclerosis Hemiplegia Reduced visual acuity Abnormality of macular pigmentation Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Chronic hemolytic anemia Ectopia lentis Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Myelopathy Homocystinuria Cor pulmonale Thromboembolism Disproportionate tall stature Apathy Macrotia Gait ataxia Sparse scalp hair Clitoral hypertrophy Anal stenosis Facial cleft Hypoplastic nipples Hypopituitarism Anteriorly placed anus Glycosuria Agenesis of permanent teeth Steatorrhea Dextrocardia Congenital sensorineural hearing impairment Portal hypertension Fair hair Abnormality of the genitourinary system Oligodontia Widely spaced teeth Severe muscular hypotonia Hyperbilirubinemia Pointed chin Hypocalcemia Abnormality of the nail Situs inversus totalis Cafe-au-lait spot Cholestasis Brainstem dysplasia Calvarial skull defect Weight loss Absent lacrimal punctum Dementia Depressivity Congestive heart failure Tremor Midline skin dimples over anterior/posterior fontanelles Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Anasarca Septate vagina Increased VLDL cholesterol concentration Abnormal hair pattern 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 Hypoproteinemia Renal sodium wasting Wide mouth Occipital meningocele Hyperammonemia Hyperlysinuria Micronodular cirrhosis Hemophagocytosis Increased serum ferritin Glomerulopathy Truncal obesity Malnutrition Abnormality of the coagulation cascade Glomerulonephritis Hyperextensible skin Cutis laxa Alveolar proteinosis Pancreatitis Aminoaciduria Fine hair Brain atrophy Postural instability Recurrent fractures Coma Cirrhosis Nausea Nausea and vomiting Psychotic episodes Oroticaciduria Osteopenia Polymicrogyria Cerebral visual impairment Decreased liver function Postnatal microcephaly Tetraparesis Status epilepticus Intellectual disability, profound Sloping forehead Neuronal loss in central nervous system Gliosis Tetraplegia Generalized tonic-clonic seizures Pulmonary hemorrhage Corneal opacity Muscular hypotonia of the trunk Cerebellar hypoplasia Microphthalmia Ventriculomegaly Fever Asterixis Argininuria Ornithinuria Protein avoidance Sparse hair Osteoporosis Microretrognathia Stomatitis Optic atrophy Dysarthria Peripheral neuropathy Agranulocytosis Megaloblastic bone marrow Congenital neutropenia Granulocytopenia Reticulocytopenia Abnormality of chromosome stability IgM deficiency Agammaglobulinemia Ophthalmoplegia Abnormality of the mouth IgG deficiency Acute kidney injury IgA deficiency Macrocytic anemia Lymphopenia Decreased antibody level in blood Respiratory tract infection Abnormality of the nervous system Immunodeficiency Dystonia Progressive cerebellar ataxia Skeletal muscle atrophy Renal tubular acidosis Optic nerve compression Elevated serum acid phosphatase Periodic hypokalemic paresis Diaphyseal sclerosis Proximal renal tubular acidosis Distal renal tubular acidosis Cranial hyperostosis Extramedullary hematopoiesis Osteopetrosis Poor appetite Osteomalacia Hypertrichosis Basal ganglia calcification Restrictive ventilatory defect Visual loss 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 Opacification of the corneal stroma Purpura Multiple small medullary renal cysts Severe global developmental delay Multicystic kidney dysplasia Hepatic fibrosis Heterotopia Encephalocele Cerebellar vermis hypoplasia Postaxial hand polydactyly Renal cyst Highly arched eyebrow Retinal dystrophy Iris coloboma Prominent nasal bridge Tachypnea Coloboma Autistic behavior Abnormality of the kidney Low-set, posteriorly rotated ears Dyspnea Behavioral abnormality Blindness Scoliosis Recurrent cystitis Diffuse telangiectasia Intellectual disability, progressive Aplasia/Hypoplasia of the corpus callosum Facial hirsutism Foot polydactyly Renal corticomedullary cysts Aplasia/Hypoplasia of the cerebellar vermis Tubulointerstitial fibrosis Dilated fourth ventricle Congenital hepatic fibrosis Agenesis of cerebellar vermis Abnormality of the hypothalamus-pituitary axis Undetectable electroretinogram Tubular atrophy Postaxial foot polydactyly Severe vision loss Polycystic kidney dysplasia Congenital blindness Biparietal narrowing Nephronophthisis Molar tooth sign on MRI Abnormality of neuronal migration Polyuria Hypoplasia of the brainstem Chorioretinal coloboma Polydipsia Hand polydactyly Crusting erythematous dermatitis Poliosis Spastic tetraparesis Erythema Dehydration Asthma Palmoplantar keratoderma Hirsutism Dry skin Arachnodactyly Genu valgum Carious teeth Pruritus Papule Proptosis Low posterior hairline Hyperkeratosis Prominent forehead Recurrent respiratory infections Obesity Intellectual disability, mild Downslanted palpebral fissures Delayed speech and language development Congenital microcephaly Increased CSF protein Lissencephaly Hepatitis Cutaneous photosensitivity Abnormality of the middle ear Osteomyelitis 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 Psoriasiform dermatitis Depressed nasal ridge Reduced bone mineral density Abnormality of the fingernails Generalized hirsutism Recurrent pneumonia Bilateral single transverse palmar creases Low anterior hairline Skin ulcer Lymphedema Thin skin Inflammatory abnormality of the skin Thyroglossal cyst



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