Arthritis, and Agenesis of corpus callosum

Diseases related with Arthritis and Agenesis of corpus callosum

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


Top matches:

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI 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

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

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Other less relevant matches:

Low match CONGENITAL TUFTING ENTEROPATHY


Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.

CONGENITAL TUFTING ENTEROPATHY Is also known as intestinal epithelial cell dysplasia|enteropathy, congenital tufting|ied|cte|intestinal epithelial dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL TUFTING ENTEROPATHY

Low match RIDDLE SYNDROME


A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).

RIDDLE SYNDROME Is also known as rnf168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RIDDLE SYNDROME

Low match ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A


Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

Low match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Low 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

Low match GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2

Low match FAMILIAL CONGENITAL MIRROR MOVEMENTS


FAMILIAL CONGENITAL MIRROR MOVEMENTS Is also known as hereditary congenital controlateral synkinesia|isolated congenital controlateral synkinesia|hereditary congenital mirror movements|isolated congenital mirror movements|familial congenital controlateral synkinesia

Related symptoms:

  • Pain
  • Intellectual disability, mild
  • Agenesis of corpus callosum
  • Myalgia
  • Abnormality of movement


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL CONGENITAL MIRROR MOVEMENTS

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

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Short stature Seizures Hypertelorism Blepharophimosis Fever Failure to thrive High palate Hearing impairment Specific learning disability Short neck Inguinal hernia Flexion contracture Neoplasm Micrognathia Diarrhea Immunodeficiency Cataract Anemia Purpura Nasal speech Obesity Depressivity Hip dislocation Thrombocytopenia Ataxia Hemolytic anemia Rheumatoid arthritis Apathy Hydrocephalus Posteriorly rotated ears Low-set ears

Rare Symptoms - Less than 30% cases


Juvenile rheumatoid arthritis Interrupted aortic arch Graves disease Aplasia of the uterus Seborrheic dermatitis Psoriasiform dermatitis Hypoparathyroidism Myelomeningocele Posterior embryotoxon Unilateral renal agenesis Acne Hypoplasia of the brainstem Inflammation of the large intestine Autoimmune hemolytic anemia Autoimmune thrombocytopenia Bipolar affective disorder Truncus arteriosus Cholelithiasis Right aortic arch Schizophrenia Arnold-Chiari malformation Vitiligo Meningocele Perimembranous ventricular septal defect Ptosis Impaired T cell function Weight loss Bimanual synkinesia Unsteady gait Aciduria Myalgia Renal insufficiency Pain Growth delay Postnatal growth retardation Muscle weakness Episodic fever Recurrent pneumonia Clumsiness Erythema Pneumonia Duodenal stenosis Headache Sepsis Abdominal distention Small for gestational age Telecanthus Narrow mouth Hypertonia Strabismus Sacral meningocele Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Conotruncal defect Retinal vascular tortuosity Bicuspid aortic valve Abdominal pain Ventricular septal defect Hypoplasia of the corpus callosum Hyperactivity Bifid uvula Bulbous nose Frontal bossing Anal atresia Congenital cataract Autoimmunity Patent ductus arteriosus Recurrent infections Malar flattening Abnormality of the pinna Mental deterioration Abnormal heart morphology Umbilical hernia Dementia Retrognathia Abnormality of cardiovascular system morphology Chorea Behavioral abnormality Underdeveloped nasal alae Hypocalcemia Muscular hypotonia Spina bifida Cleft palate Renal dysplasia Atrial septal defect Intellectual disability, severe Primary amenorrhea Cognitive impairment Low posterior hairline Psychosis Hypothyroidism Renal agenesis Tetralogy of Fallot Delayed speech and language development Cerebellar atrophy Amenorrhea Conjunctivitis Urticaria Peripheral visual field loss Intestinal obstruction Colitis Uveitis Subcapsular cataract Amyloidosis Hypermelanotic macule Elevated erythrocyte sedimentation rate Leukocytosis Multicystic kidney dysplasia Poor coordination Cervical lymphadenopathy Congestive heart failure Respiratory insufficiency Tremor Hypertension Visual impairment Feeding difficulties Nystagmus Pharyngitis Serositis Optic neuritis Posterior subcapsular cataract Neutrophilia Erysipelas Porokeratosis Neuritis Chills Recurrent aphthous stomatitis Peritonitis Large forehead Acrocyanosis Increased IgA level Retinal dystrophy Vasculitis Clinodactyly Constipation Pectus excavatum Splenomegaly Vomiting Blindness Fatigue Hepatomegaly Polyhydramnios Hyperhidrosis Chin with H-shaped crease Whistling appearance Shoulder flexion contracture Ulnar deviation of the hand or of fingers of the hand Abnormal auditory evoked potentials Flexion contracture of toe Overbite Dimple chin Rod-cone dystrophy Arthralgia Long eyelashes Gait ataxia Nephrotic syndrome Optic disc pallor Eczema Dehydration Gastrointestinal hemorrhage Migraine Limitation of joint mobility Nausea Hepatosplenomegaly Lymphadenopathy Vertigo Infertility Papule Cough Skin rash Nyctalopia Pallor Cerebral cortical atrophy Retinal degeneration Reduced visual acuity Abnormality of macular pigmentation Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Chronic hemolytic anemia Hypomethioninemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Myelopathy Homocystinuria Cystathioninuria Decreased methylmalonyl-CoA mutase activity Cor pulmonale Abnormality of movement Abnormality of the corticospinal tract Poor fine motor coordination Fused cervical vertebrae Easy fatigability Cerebral palsy Hypogonadotrophic hypogonadism Situs inversus totalis Intellectual disability, mild Diffuse hepatic steatosis Motor delay Hypoplasia of the pons Ankle clonus Clonus Hyperreflexia Thyroglossal cyst Cystathioninemia Methylmalonic aciduria Megaloblastic anemia Acidosis Lower limb muscle weakness Long face Abnormality of skin pigmentation Trismus Paresthesia Macrocephaly Confusion Smooth philtrum Malabsorption Nephropathy Lethargy Retinopathy Feeding difficulties in infancy Proteinuria Difficulty walking Macrotia High forehead Joint hypermobility Hematuria Thromboembolism Recurrent urinary tract infections Disproportionate tall stature Ectopia lentis Hemiplegia Slurred speech Atherosclerosis Abnormality of retinal pigmentation Anorexia Broad-based gait Hepatic steatosis Pulmonary arterial hypertension Pancytopenia Abnormality of extrapyramidal motor function Pigmentary retinopathy Memory impairment Urinary incontinence Neutropenia Metabolic acidosis Breech presentation Camptodactyly Malignant hyperthermia Astigmatism Amblyopia Broad thumb Short palpebral fissure Coarctation of aorta High, narrow palate Iris coloboma Polymicrogyria Generalized tonic-clonic seizures Sclerocornea Microtia Short philtrum Attention deficit hyperactivity disorder Craniosynostosis Abnormality of the kidney Cleft lip Hydronephrosis Exotropia Tetany Unilateral primary pulmonary dysgenesis Accommodative esotropia Enlarged joints Coloboma Midface retrusion Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Esophoria Anterior segment developmental abnormality Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Perisylvian polymicrogyria Alcoholism Femoral hernia Hypoplasia of the thymus Microphthalmia Unilateral lung agenesis Abnormal intestine morphology Abnormality of the ear Hearing abnormality Dysmetria Anal stenosis Submucous cleft hard palate Axonal loss Vesicoureteral reflux Basal ganglia calcification Myopathic facies Delusions Peripheral demyelination Obsessive-compulsive behavior Dysdiadochokinesis Open mouth Abnormality of the hand Hallucinations Holoprosencephaly Pulmonic stenosis Pierre-Robin sequence Absent speech Velopharyngeal insufficiency Hernia Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Hypospadias Psychotic episodes Giant platelets Echolalia Paranoia Mood swings Platybasia Conductive hearing impairment Anxiety Aggressive behavior Pulmonary artery atresia Abnormality of the endocrine system Sloping forehead Long nose Distal arthrogryposis Wide nasal bridge Mandibular prognathia Glaucoma Prominent forehead Long philtrum Short nose Myopathy Talipes equinovarus Epicanthus Deeply set eye Cryptorchidism Finger syndactyly Poor hand-eye coordination Chromosomal breakage induced by ionizing radiation Neonatal asphyxia Increased sensitivity to ionizing radiation Intraventricular hemorrhage Kyphoscoliosis Narrow palpebral fissure Elevated alpha-fetoprotein Spina bifida occulta Atrophy/Degeneration affecting the brainstem Hip contracture Mask-like facies Rocker bottom foot Congenital contracture Pterygium Adducted thumb Knee flexion contracture Pectus carinatum Joint contracture of the hand Intellectual disability, profound Abnormality of the skin Dental malocclusion Flat face Talipes Arthrogryposis multiplex congenita Enuresis nocturna Generalized lymphadenopathy Celiac disease Gait disturbance Abnormality of the cerebral white matter Abnormality of epiphysis morphology Lymphedema Respiratory failure Joint dislocation Epiphyseal dysplasia Molar tooth sign on MRI Multiple epiphyseal dysplasia Otitis media Vaginal fistula Secretory diarrhea Intractable diarrhea Trichorrhexis nodosa Villous atrophy Choanal stenosis Underdeveloped supraorbital ridges Dry skin Abnormal lung morphology Conjunctival telangiectasia IgA deficiency IgM deficiency Demyelinating peripheral neuropathy Recurrent viral infections Mild global developmental delay Chronic sinusitis IgG deficiency Genu valgum Recurrent sinusitis Osteoarthritis Bronchitis Interstitial pulmonary abnormality Restrictive ventilatory defect Pulmonary fibrosis Emotional lability Scaling skin Brain atrophy Telangiectasia Dysgenesis of the hippocampus



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