Autoimmunity, and Agenesis of corpus callosum

Diseases related with Autoimmunity and Agenesis of corpus callosum

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


Top matches:

Low match AICARDI-GOUTIERES SYNDROME 1; AGS1


Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE


Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE Is also known as sedaghatian chondrodysplasia|metaphyseal chondrodysplasia, congenital lethal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

Low 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

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Other less relevant matches:

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match CERNUNNOS-XLF DEFICIENCY


Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.

CERNUNNOS-XLF DEFICIENCY Is also known as combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|cernunnos xlfd|nhej1 deficiency|scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and

Related symptoms:

  • Microcephaly
  • Growth delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CERNUNNOS-XLF DEFICIENCY

Low match CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1


CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Is also known as chondrodysplasia punctata, brachytelephalangic|cpxr

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

Low match MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Low match GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY


Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY Is also known as glutathionuria|gtg deficiency|ggt deficiency|gamma-glutamyltransferase deficiency|gamma-glutamyltranspeptidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Strabismus
  • Low-set ears


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY

Low match CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME


Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.

CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME Is also known as constitutional mismatch repair deficiency syndrome|mismatch repair deficiency|btps1|cmmr-d syndrome|mmr deficiency|childhood cancer syndrome|btp1 syndrome|cmmrds|turcot syndrome|brain tumor-polyposis syndrome 1

Related symptoms:

  • Neoplasm
  • Agenesis of corpus callosum
  • Carcinoma
  • Leukemia
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME

Low match INFANTILE OSTEOPETROSIS WITH NEUROAXONAL DYSPLASIA


This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.

Related symptoms:

  • Abnormality of the skeletal system
  • Cerebral atrophy
  • Abnormality of metabolism/homeostasis
  • Agenesis of corpus callosum
  • Partial agenesis of the corpus callosum


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE OSTEOPETROSIS WITH NEUROAXONAL DYSPLASIA

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

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

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Abnormal facial shape Thrombocytopenia Systemic lupus erythematosus Short neck Atrial septal defect Immunodeficiency Behavioral abnormality Anemia Posteriorly rotated ears Bulbous nose Fever Hearing impairment Generalized hypotonia Strabismus Hypocalcemia

Rare Symptoms - Less than 30% cases


Retrognathia Umbilical hernia Arthritis Abnormality of the pinna Low-set ears Inguinal hernia Blepharophimosis Growth delay Micrognathia Neoplasm Hypertelorism Hypothyroidism Cleft palate Abnormal heart morphology Patent ductus arteriosus Cataract Absent speech Aplasia of the uterus Abnormality of cardiovascular system morphology Craniosynostosis Hydrocephalus Hemolytic anemia Hypoplasia of the corpus callosum Ventricular septal defect Delayed speech and language development High palate Scoliosis Cognitive impairment Obesity Amenorrhea Bifid uvula Vitiligo Inflammation of the large intestine Retinal vascular tortuosity Autoimmune hemolytic anemia Duodenal stenosis Autoimmune thrombocytopenia Impaired T cell function Posterior embryotoxon Bipolar affective disorder Hypoparathyroidism Unilateral renal agenesis Right aortic arch Meningocele Truncus arteriosus Myelomeningocele Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Juvenile rheumatoid arthritis Acne Conotruncal defect Chorea Renal dysplasia Sacral meningocele Renal agenesis Specific learning disability Cortical gyral simplification Tetralogy of Fallot Right aortic arch with mirror image branching Low posterior hairline Primary amenorrhea Spina bifida Psoriasiform dermatitis Purpura Bicuspid aortic valve Arnold-Chiari malformation Schizophrenia Arteria lusoria Nasal speech Cholelithiasis Aplasia of the thymus Rheumatoid arthritis Sloping forehead Seborrheic dermatitis Abnormality of metabolism/homeostasis Heterotopia Partial agenesis of the corpus callosum Talipes equinovarus Peripheral demyelination Pneumonia Depressed nasal bridge Muscular hypotonia Cerebellar hypoplasia Cerebral atrophy Cerebellar atrophy Abnormality of the skeletal system Short phalanx of finger Carcinoma Spasticity Basal ganglia calcification Hypermelanotic macule Basal cell carcinoma Neurofibromas Nephroblastoma Sarcoma Cafe-au-lait spot Congenital conductive hearing impairment Lymphoma Sepsis Leukemia Hypopigmentation of the skin Unilateral lung agenesis Neutropenia Perineal fistula Poor coordination Hepatocellular carcinoma Unilateral primary pulmonary dysgenesis Aciduria Asthma Bruising susceptibility Intellectual disability, moderate Ptosis Colon cancer Bird-like facies Vascular ring Glioma Osteopetrosis Adenocarcinoma of the colon Acute myelomonocytic leukemia Platybasia Mood swings Gray matter heterotopias Axillary freckling Colorectal polyposis Glioblastoma multiforme Ependymoma Intestinal polyp Neoplasm of the central nervous system Paranoia Lisch nodules Giant platelets Multiple lipomas Abnormality of abdomen morphology Central nervous system degeneration Acidosis Multiple cafe-au-lait spots Neuroblastoma Hodgkin lymphoma Acute lymphoblastic leukemia Pituitary adenoma Rhabdomyosarcoma Brain neoplasm Psychotic episodes Astrocytoma Intestinal polyposis Medulloblastoma Velopharyngeal insufficiency Freckling Intellectual disability, mild Flexion contracture Vascular tortuosity Coarctation of aorta Short palpebral fissure Broad thumb Amblyopia Exotropia Sclerocornea Tetany Anterior segment developmental abnormality Hypoplasia of the thymus Ichthyosis Alcoholism Perisylvian polymicrogyria Abnormality of the middle ear Abnormality of the thymus Esophoria Iris coloboma Accommodative esotropia Decreased circulating parathyroid hormone level Parathyroid hypoplasia Parathyroid agenesis Type I truncus arteriosus Hypogonadism Decreased antibody level in blood Convex nasal ridge Short nose Lymphopenia Failure to thrive Recurrent bacterial infections Recurrent viral infections Decrease in T cell count High, narrow palate Polymicrogyria Hypertonia Short foot B lymphocytopenia Tremor Hyperreflexia Microphthalmia Narrow mouth Metaphyseal sclerosis Hydronephrosis Telecanthus Restrictive cardiomyopathy Cleft lip Mild short stature Prominent nose Abnormality of the kidney Round face Small hand Astigmatism Severe short stature Cardiomyopathy Intrauterine growth retardation Maternal autoimmune disease Short nasal septum Vitamin K deficiency Epiphyseal stippling Abnormality of the vertebral column Anosmia Short distal phalanx of finger Attention deficit hyperactivity disorder Short philtrum Microtia Generalized tonic-clonic seizures Femoral hernia Open mouth Pulmonary artery atresia Multiple gastric polyps Brachydactyly Increased CSF interferon alpha Deep white matter hypodensities Chronic CSF lymphocytosis Chilblains CSF lymphocytic pleiocytosis Autoamputation Arrhythmia CSF pleocytosis Lymphocytosis Vegetative state Morphological abnormality of the pyramidal tract Diffuse cerebral atrophy Acrocyanosis Respiratory insufficiency Delayed skeletal maturation Episodic fever Rhizomelia Atrioventricular block Short long bone Lissencephaly Accelerated skeletal maturation Short ribs Short toe Pachygyria Respiratory failure Abnormality of the ribs Limb undergrowth Short metacarpal Short palm Narrow chest Platyspondyly Apnea Progressive encephalopathy Atrophy/Degeneration affecting the brainstem Redundant skin Cerebral cortical atrophy Skin rash Irritability Feeding difficulties in infancy Muscular hypotonia of the trunk Elevated hepatic transaminase Hepatosplenomegaly Glaucoma Abnormality of the cerebral white matter Encephalopathy Dilatation Splenomegaly Dystonia Hepatomegaly Feeding difficulties Nystagmus Severe global developmental delay Tetraplegia Prolonged neonatal jaundice Leukoencephalopathy Congenital glaucoma Petechiae Spastic diplegia Encephalitis Poor head control Cerebral palsy Leukodystrophy Brain atrophy Progressive microcephaly Postnatal microcephaly Intellectual disability, profound Spastic tetraplegia Abnormality of extrapyramidal motor function Hepatitis Cerebral calcification Poor suck Cone-shaped epiphysis Abnormality of the endocrine system Mental deterioration Underdeveloped nasal alae Vesicoureteral reflux Dysmetria Anal atresia Pulmonic stenosis Congenital cataract Aggressive behavior Hallucinations Anxiety Conductive hearing impairment Hyperactivity Dementia Depressivity Hypospadias Hernia Psychosis Multicystic kidney dysplasia 11 thoracic vertebrae Axonal loss Echolalia Pierre-Robin sequence Delusions Hearing abnormality Anal stenosis Submucous cleft hard palate Abnormality of the ear Narrow palpebral fissure Myopathic facies Hypoplasia of the brainstem Obsessive-compulsive behavior Apathy Dysdiadochokinesis Abnormality of the hand Holoprosencephaly Intellectual disability, severe Horizontal inferior border of scapula Metaphyseal irregularity Cone-shaped epiphyses of the phalanges of the hand 11 pairs of ribs Myocarditis Hypoplastic iliac wing Flat acetabular roof Hyperphosphatemia Delayed epiphyseal ossification Cardiorespiratory arrest Spondylometaphyseal dysplasia Heart block Turricephaly Metaphyseal dysplasia Disproportionate short stature Short finger Thoracic hypoplasia Abnormality of neuronal migration Flared iliac wings Metaphyseal chondrodysplasia Irregular tarsal bones Large posterior fontanelle Widened sacrosciatic notch Focal lissencephaly Iliac crest serration Cone-shaped metacarpal epiphyses Rhizomelic arm shortening Abnormality of the scapula Myocardial necrosis Metaphyseal cupping Long fibula Pulmonary hemorrhage Cupped ribs Third degree atrioventricular block Narrow greater sacrosciatic notches Coronal cleft vertebrae Porencephalic cyst Fetal distress



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