Arthritis, and Cerebellar vermis hypoplasia

Diseases related with Arthritis and Cerebellar vermis hypoplasia

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


Top matches:

Low match JUVENILE HUNTINGTON DISEASE


Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Low match LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY


Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.

LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY Is also known as mrxsarts|arts syndrome|mental retardation, x-linked, syndromic, arts type|mrxs18|mental retardation, x-linked, syndromic 18|ataxia, fatal x-linked, with deafness and loss of vision

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY

Low match PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY


Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

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Other less relevant matches:

Low match LOEYS-DIETZ SYNDROME 1; LDS1


The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

Low match DYSTONIA, DOPA-RESPONSIVE; DRD


DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

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 PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C


Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by Boczonadi et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C Is also known as hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C

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 ATAXIA-TELANGIECTASIA-LIKE DISORDER


ATAXIA-TELANGIECTASIA-LIKE DISORDER Is also known as atld

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Delayed speech and language development
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about ATAXIA-TELANGIECTASIA-LIKE DISORDER

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6 Is also known as walker-warburg syndrome or muscle-eye-brain disease, large-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6

Top 5 symptoms//phenotypes associated to Arthritis and Cerebellar vermis hypoplasia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Cerebellar vermis hypoplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Chorea Recurrent infections Hydrocephalus Behavioral abnormality Seizures Delayed speech and language development Ataxia Rheumatoid arthritis Cognitive impairment Areflexia Muscular hypotonia Motor delay Immunodeficiency Obsessive-compulsive behavior Cleft palate Hypertonia Dysmetria Flexion contracture High palate Atrial septal defect Patent ductus arteriosus Posteriorly rotated ears Retrognathia Bifid uvula Bicuspid aortic valve Arnold-Chiari malformation Hypothyroidism Hypoplasia of the corpus callosum Schizophrenia Short stature Depressivity Anemia Dystonia Cerebellar atrophy Hyperactivity Aggressive behavior Gait ataxia Anxiety Hyperreflexia Hypertension

Rare Symptoms - Less than 30% cases


Cholelithiasis Tremor Myopia Dementia Ptosis Myoclonus Micrognathia Polymicrogyria Hypertelorism Diabetes mellitus Autoimmune thrombocytopenia Cerebellar hypoplasia Feeding difficulties Nasal speech Microcephaly Strabismus Bipolar affective disorder Autoimmune hemolytic anemia Inflammation of the large intestine Acne Unilateral renal agenesis Psoriasiform dermatitis Dysdiadochokinesis Posterior embryotoxon Sacral meningocele Talipes equinovarus Myopathic facies Juvenile rheumatoid arthritis Seborrheic dermatitis Exotropia Aplasia of the uterus Graves disease Interrupted aortic arch Perimembranous ventricular septal defect Myelomeningocele Right aortic arch Gait disturbance Impaired T cell function Duodenal stenosis Retinal vascular tortuosity Truncus arteriosus Gout Conotruncal defect Craniosynostosis Aplasia of the thymus Joint laxity Arteria lusoria Dysphagia Meningocele Ventriculomegaly Hypoparathyroidism Right aortic arch with mirror image branching Hypospadias Hernia Dilatation Vitiligo Purpura Increased urinary hypoxanthine Arnold-Chiari type I malformation Abnormality of the pinna Abnormality of the cerebral white matter Abnormality of eye movement Hypocalcemia Amenorrhea Specific learning disability Renal agenesis Hemolytic anemia Paranoia Bulbous nose Dilated fourth ventricle Gaze-evoked nystagmus Hyperactive deep tendon reflexes Autoimmunity Blepharophimosis Abnormality of movement Growth delay Umbilical hernia Inguinal hernia Abnormal heart morphology Obesity Thrombocytopenia Abnormality of cardiovascular system morphology Involuntary movements Short neck Ventricular septal defect Fever Bradykinesia Cataract Abnormal facial shape Abnormal cerebellum morphology Tetralogy of Fallot Dysarthria Nystagmus Absent speech Pes cavus Drooling Sensorimotor neuropathy Spina bifida Renal dysplasia Cerebral cortical atrophy Pneumonia Babinski sign Elevated serum creatine phosphokinase Sensorineural hearing impairment Primary amenorrhea Rigidity Low posterior hairline Irritability Visual impairment Mental deterioration Peripheral neuropathy Optic atrophy Psychosis Multicystic kidney dysplasia Narrow palpebral fissure Holoprosencephaly Anal stenosis Echolalia Intellectual disability, severe Hallucinations Abnormality of the hand Axonal loss Basal ganglia calcification Apathy Underdeveloped nasal alae Pierre-Robin sequence Conductive hearing impairment Open mouth Hypoplasia of the brainstem Vesicoureteral reflux Delusions Congenital cataract Submucous cleft hard palate Hearing abnormality Pulmonic stenosis Anal atresia Abnormality of the ear Peripheral demyelination Congenital muscular dystrophy Abnormality of the endocrine system Vascular tortuosity Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Abnormality of the thymus Frequent falls Abnormality of the middle ear Type II lissencephaly Cerebellar cyst Perisylvian polymicrogyria Alcoholism Femoral hernia Hypoplasia of the thymus Intention tremor Hypergonadotropic hypogonadism Tetany Retinal dysplasia Severe muscular hypotonia Intellectual disability, profound Dandy-Walker malformation Muscular dystrophy Enlarged interhemispheric fissure Small posterior fossa Abnormality of ocular smooth pursuit Vertical nystagmus Oculomotor apraxia Dysmetric saccades Orofacial dyskinesia Hypoplasia of the pons Absent Achilles reflex Slow saccadic eye movements Mask-like facies Reduced tendon reflexes Anterior segment developmental abnormality Sclerocornea Pulmonary artery atresia Congenital conductive hearing impairment Spastic tetraparesis Tetraparesis Muscle weakness Failure to thrive Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Lissencephaly Perineal fistula Neoplasm Vascular ring Central nervous system degeneration Psychotic episodes Velopharyngeal insufficiency Giant platelets Mood swings Platybasia Spinal muscular atrophy Low-set ears Amblyopia Microtia Broad thumb Short palpebral fissure Coarctation of aorta High, narrow palate Iris coloboma Astigmatism Generalized tonic-clonic seizures Diffuse white matter abnormalities Microphthalmia Short philtrum Attention deficit hyperactivity disorder Abnormality of the kidney Cleft lip Telecanthus Hydronephrosis Narrow mouth Respiratory failure Generalized arterial tortuosity Paresis of extensor muscles of the big toe Arrhythmia Polyneuropathy Peripheral axonal neuropathy Hypermetropia Neurological speech impairment Wide mouth Abnormality of the nervous system Prominent forehead Renal insufficiency Convex nasal ridge Cardiomyopathy Epicanthus Spinal cord posterior columns myelin loss Parietal cortical atrophy Muscle mounding Pancreatic fibrosis Low frustration tolerance Decreased nerve conduction velocity Triangular face Hypotelorism Progressive muscle weakness Malar flattening Camptodactyly Pes planus Skeletal dysplasia Kyphoscoliosis Proptosis Clinodactyly of the 5th finger Clinodactyly Abnormality of the skeletal system Hyperuricemia Frontal bossing Downslanted palpebral fissures Uric acid nephrolithiasis Abnormality of skeletal muscles Excessive purine production Hyperuricosuria Abnormal aortic morphology High-frequency hearing impairment Recurrent upper respiratory tract infections Progressive visual loss Broad forehead Generalized-onset seizure Slurred speech Incoordination Hyperkinesis Clumsiness Broad-based gait Progressive neurologic deterioration Type II diabetes mellitus Neuronal loss in central nervous system Akinesia Brain atrophy Gliosis Progressive cerebellar ataxia Neurodegeneration Falls Infertility Cough Weight loss Personality changes Hypokinesia Tetraplegia Neuronal loss in basal ganglia Neonatal hypotonia Hyporeflexia Visual loss Intellectual disability, mild Respiratory insufficiency Oral motor hypotonia Frequent temper tantrums Suicidal ideation Abnormal involuntary eye movements Muscle fibrillation Mania Testicular atrophy Chronic bronchitis Head tremor Upper limb undergrowth Restlessness Cerebellar vermis atrophy Bronchitis Pectus carinatum Dolichocephaly Decreased CSF homovanillic acid Confusion Dysphonia Cerebral palsy Torticollis Horizontal nystagmus Abnormality of extrapyramidal motor function Parkinsonism Sleep disturbance Paraplegia Spastic diplegia Spastic paraplegia Abnormal pyramidal sign Hyperlordosis Difficulty walking Encephalopathy Fatigue Spasticity Biconvex vertebral bodies Postural tremor Brisk reflexes Descending thoracic aorta aneurysm Writer's cramp Abnormality of the substantia nigra Fixed facial expression Transient hyperphenylalaninemia Progressive flexion contractures Obsessive-compulsive trait Infantile encephalopathy Axial dystonia Oromandibular dystonia Lower limb hyperreflexia Parkinsonism with favorable response to dopaminergic medication Torsion dystonia Upper motor neuron dysfunction Focal dystonia Generalized dystonia Limb dystonia Impaired vibration sensation in the lower limbs Resting tremor Bicuspid pulmonary valve Pulmonary artery aneurysm Facial asymmetry Mitral regurgitation Hallux valgus Aortic aneurysm Ectopia lentis Microretrognathia Joint dislocation Finger clinodactyly Joint contracture of the hand Osteoarthritis Atrophic scars Blue sclerae Mitral valve prolapse Eczema Postaxial hand polydactyly Asthma Bruising susceptibility Thin vermilion border Arachnodactyly Disproportionate tall stature Abnormality of the sternum Multiple suture craniosynostosis Dermal translucency Cystic medial necrosis Ascending aortic dissection Long thorax Dural ectasia Unilateral ptosis Arterial tortuosity Thoracic aortic aneurysm Ascending tubular aorta aneurysm Long toe Aortic root aneurysm Sagittal craniosynostosis Spondylolisthesis High anterior hairline Narrow nose Soft skin Scaphocephaly Dilatation of the cerebral artery Rhinitis Frontoparietal polymicrogyria



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