Anemia, and Agenesis of corpus callosum

Diseases related with Anemia and Agenesis of corpus callosum

In the following list you will find some of the most common rare diseases related to Anemia and Agenesis of corpus callosum that can help you solving undiagnosed cases.


Top matches:

Low match MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16

Low match PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY


Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Neoplasm
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI

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Other less relevant matches:

Low match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low match BALLER-GEROLD SYNDROME


Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Low match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Low match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR


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

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8


Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

Low match ROLANDIC EPILEPSY


Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

ROLANDIC EPILEPSY Is also known as becrs|bre|benign rolandic epilepsy|bects|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROLANDIC EPILEPSY

Top 5 symptoms//phenotypes associated to Anemia and Agenesis of corpus callosum

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Agenesis of corpus callosum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Hearing impairment Acidosis Optic atrophy Ataxia Generalized hypotonia Hypertonia Hypoplasia of the corpus callosum Ptosis Scoliosis Dystonia Strabismus Severe global developmental delay Nystagmus Lactic acidosis Metabolic acidosis Increased serum lactate Myopia Intrauterine growth retardation Developmental regression Abnormality of the kidney Brachycephaly Ventricular septal defect Atrial septal defect Thrombocytopenia Conductive hearing impairment Sensorineural hearing impairment Abnormality of the skeletal system Anteverted nares Behavioral abnormality Talipes equinovarus Abnormal facial shape Vomiting Epicanthus Failure to thrive Hypertelorism Spasticity Cryptorchidism Respiratory distress Flexion contracture Respiratory insufficiency

Rare Symptoms - Less than 30% cases


Spastic tetraplegia Thick lower lip vermilion Growth delay Self-injurious behavior Knee flexion contracture Muscular hypotonia Encephalopathy Cleft palate Motor delay Irritability Abnormal heart morphology Midface retrusion Blindness Apnea Abnormality of movement Lethargy Pneumonia Feeding difficulties in infancy Hydronephrosis Respiratory failure Clinodactyly of the 5th finger Myoclonus Abnormal cardiac septum morphology Skeletal muscle atrophy Cataract Congestive heart failure Clonus Leukoencephalopathy Cardiorespiratory arrest Basal ganglia calcification Neurodegeneration Left ventricular hypertrophy Ventricular hypertrophy Coarctation of aorta Broad forehead Prominent nasal bridge Abnormal pyramidal sign Optic disc pallor Narrow mouth Peripheral neuropathy Glaucoma Brain atrophy Babinski sign Areflexia Malar flattening Myopathy Intellectual disability, severe Hydrocephalus Telecanthus Gait disturbance Downslanted palpebral fissures Macrocephaly Fused cervical vertebrae Edema Autism Trigonocephaly Absent radius Spastic paraplegia Patent ductus arteriosus Adducted thumb Abnormality of eye movement Abnormality of cardiovascular system morphology Microphthalmia Muscle fibrillation Neoplasm Dysarthria Coma Pallor High palate Tetraparesis Duodenal atresia Progressive neurologic deterioration Carpal synostosis Severe lactic acidosis Corpus callosum atrophy Poor coordination Chromosome breakage Bilateral radial aplasia Ventriculomegaly Hypothyroidism Muscular hypotonia of the trunk Pectus excavatum Horseshoe kidney Cerebral atrophy Hyperreflexia Failure to thrive in infancy Muscle weakness Absent thumb Short thumb Hypoplasia of the radius Vesicoureteral reflux Exercise intolerance Pancreatitis Abnormality of the carpal bones Shock Gliosis Lambdoidal craniosynostosis Ragged-red muscle fibers Incoordination Generalized myoclonic seizures Premature birth Pigmentary retinopathy Migraine Febrile seizures Cyanosis Wide anterior fontanel Metopic synostosis Horizontal nystagmus Brachyturricephaly Cardiac arrest Aspiration Aplasia/Hypoplasia of the patella Urogenital fistula Congenital diaphragmatic hernia Cardiomegaly Ulnar bowing Leukodystrophy Dysphagia Limited shoulder movement Flat forehead Feeding difficulties Aphalangy of the hands Myalgia Unilateral radial aplasia Proximal muscle weakness Hypoglycemia Adrenal insufficiency Kyphoscoliosis Visual impairment Abnormality of the eye Hyporeflexia Hernia Hepatomegaly Renal insufficiency Cerebellar atrophy Fatigue Cardiomyopathy Hypertrophic cardiomyopathy Mental deterioration Progressive cerebellar ataxia Stage 5 chronic kidney disease Abnormal cerebellum morphology Aplasia of metacarpal bones Bicoronal synostosis Perineal fistula Hepatic steatosis Dyskinesia Hepatic failure Talipes Anomalous splenoportal venous system Limb muscle weakness Persistent cloaca Stroke Retinopathy Carpal bone aplasia Midface capillary hemangioma Abnormality of the liver Oral-pharyngeal dysphagia Abnormal mitochondria in muscle tissue Global brain atrophy Seborrheic dermatitis Cervical ribs Generalized tonic-clonic seizures with focal onset Lateral clavicle hook Phocomelia Carpal bone hypoplasia Fibular aplasia Pancreatic cysts Cavum septum pellucidum Aplasia of the uterus Patellar aplasia Abnormality of the shoulder Poor speech Abdominal distention Allergy Delayed CNS myelination Aplastic anemia Patellar dislocation Nevus flammeus Postnatal microcephaly Megalocornea Focal impaired awareness seizure Aplasia/Hypoplasia of the ulna Meckel diverticulum Genu varum Shoulder muscle hypoplasia Brisk reflexes Stridor External ophthalmoplegia Spastic tetraparesis Exotropia Ophthalmoplegia Dyspnea Cow milk allergy Axial malrotation of the kidney Tetraphocomelia Renal malrotation 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 Abnormality of the periventricular white matter Generalized tonic-clonic seizures Intermittent thrombocytopenia Intracranial hemorrhage Eosinophilia Pericardial effusion Cerebral edema Progressive macrocephaly Cardiogenic shock Macrovesicular hepatic steatosis Infantile encephalopathy Biventricular hypertrophy Axial dystonia Decreased activity of mitochondrial respiratory chain Stiff neck Acute pancreatitis Wolff-Parkinson-White syndrome Congenital lactic acidosis Increased CSF lactate Nemaline bodies Aspiration pneumonia Mitochondrial myopathy Progressive encephalopathy Optic neuropathy Renal tubular acidosis Weak cry Poor eye contact Progressive spasticity Necrotizing encephalopathy Acute necrotizing encephalopathy Hemangioma Intestinal malrotation Coxa valga Spina bifida Short phalanx of finger Broad thumb Cerebellar vermis hypoplasia Blue sclerae Tetralogy of Fallot Focal-onset seizure Decreased antibody level in blood Sepsis Exercise-induced lactic acidemia Hip dislocation Leukemia Finger syndactyly Cleft lip Enterocolitis Fetal distress Hand oligodactyly Hepatosplenomegaly Cerebellar hypoplasia Depressed nasal bridge Limited elbow movement Superiorly displaced ears Patellar hypoplasia Tented upper lip vermilion Abnormality of fontanelles U-Shaped upper lip vermilion Abnormal hemoglobin Profound global developmental delay Volvulus Male pseudohermaphroditism Dysphasia Encephalitis Abnormality of the face Intellectual disability, mild Recurrent urinary tract infections Aganglionic megacolon Depressed nasal ridge Hypoplasia of penis Ambiguous genitalia Macroglossia Everted lower lip vermilion Flat face Nausea and vomiting Abnormality of the male genitalia Kyphosis Gastroesophageal reflux Synophrys Otitis media Nevus Hypoplasia of the maxilla Downturned corners of mouth Short distal phalanx of finger Distal amyotrophy Genu valgum Narrow chest Congenital cataract Pes cavus Protruding ear Aggressive behavior Deeply set eye Osteopenia Macrotia Gait ataxia Diabetes mellitus Hypogonadism Osteoporosis Joint stiffness Cerebral cortical atrophy Cerebral calcification Unsteady gait Increased serum pyruvate Poor fine motor coordination Lipoma Difficulty running Partial agenesis of the corpus callosum Spastic diplegia Broad-based gait Hemolytic anemia Neonatal hypotonia Decreased activity of the pyruvate dehydrogenase complex Thin upper lip vermilion Dilatation Cortical gyral simplification Drooling Decreased body weight Open mouth Sloping forehead Tetraplegia Abnormality of skin pigmentation Hyperalaninemia Periventricular cysts Constipation Patent foramen ovale Depressivity Abnormality of the dentition Brachydactyly Chromosomal breakage induced by crosslinking agents Small pituitary gland Colpocephaly Abnormal renal morphology Short 1st metacarpal Absent septum pellucidum Optic nerve hypoplasia Subependymal cysts Arnold-Chiari malformation Bone marrow hypocellularity Renal hypoplasia Growth hormone deficiency Triangular face Neutropenia Astigmatism Poor gross motor coordination Projectile vomiting Hip dysplasia Bradykinesia Anterior plagiocephaly Prominent nose Narrow face Abnormal vertebral morphology Large fontanelles Renal dysplasia Bowing of the long bones Pancytopenia Hypotelorism Underdeveloped nasal alae Lymphoma Abnormality of the metacarpal bones Bifid uvula Polymicrogyria Anal atresia Facial asymmetry Malabsorption Skin rash Craniosynostosis Low-set, posteriorly rotated ears Proptosis Spina bifida occulta Tracheoesophageal fistula Short nose Coronal craniosynostosis Oxycephaly Abnormal localization of kidney Sagittal craniosynostosis Bilateral conductive hearing impairment Rib fusion Poikiloderma Rectovaginal fistula Osteosarcoma Choanal stenosis Shallow orbits Hypoplasia of the ulna Abnormality of the ureter Aplasia/Hypoplasia of the radius Fibular hypoplasia Oligodactyly Short humerus Aplasia/Hypoplasia of the thumb Anteriorly placed anus Narrow nasal bridge Hallux valgus Prominent forehead Frontal bossing Sparse scalp hair Melanocytic nevus Congenital hypothyroidism Sparse body hair Ankle clonus Mixed hearing impairment Truncal obesity Anonychia Metatarsus adductus Bilateral cryptorchidism Schizophrenia Striae distensae Abnormal palate morphology Plagiocephaly Osteolysis Spastic paraparesis Paraparesis Hypergonadotropic hypogonadism Gynecomastia Thickened skin Abnormal form of the vertebral bodies Hip contracture Restlessness Calcification of the auricular cartilage Narrow iliac wings Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Absent axillary hair Posterior polar cataract Abnormal glucose tolerance Ectopic calcification Insulin-resistant diabetes mellitus Recurrent ear infections Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Broad face Progressive gait ataxia Thoracic kyphosis Irregular vertebral endplates Prenatal movement abnormality



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