Ataxia, and Colitis

Diseases related with Ataxia and Colitis

In the following list you will find some of the most common rare diseases related to Ataxia and Colitis that can help you solving undiagnosed cases.


Top matches:

Low match HERMANSKY-PUDLAK SYNDROME TYPE 7


HERMANSKY-PUDLAK SYNDROME TYPE 7 Is also known as hps7

Related symptoms:

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Respiratory distress
  • Reduced visual acuity


SOURCES: ORPHANET OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME TYPE 7

Low match METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1


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 (MAHCC ), cblD, cblF (MAHCF ), and cblJ (MAHCJ ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ), caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24. Another form of isolated MMA (OMIM ) can be caused by defect in the transcobalamin receptor (CD320 ).

METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1 Is also known as methylmalonic acidemia, cblh type, formerly|functional methionine synthase deficiency type cbldv1|methylmalonic aciduria, cblh type, formerly|methylmalonic acidemia and homocystinuria, cbld type

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1

Low match HIRSCHSPRUNG DISEASE


Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

HIRSCHSPRUNG DISEASE Is also known as hscr|aganglionic megacolon|congenital intestinal aganglionosis|hirschsprung disease|megacolon, aganglionic|mgc

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY


Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY Is also known as scar16|spinocerebellar ataxia autosomal recessive type 16

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY

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 BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low match HEREDITARY HYPEREKPLEXIA


Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia|familial startle disease|kok disease|startle disease, familial|stiff baby syndrome|exaggerated startle reaction|sthe|congenital stiff man syndrome|stiff-baby syndrome|stiff-person syndrome, congenital|startle reaction, exaggerated

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY HYPEREKPLEXIA

Low match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

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 AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S


Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Top 5 symptoms//phenotypes associated to Ataxia and Colitis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Ataxia and Colitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pain Spasticity Fever Cataract Fatigue Gait disturbance Neoplasm Abdominal pain Cerebellar atrophy Generalized hypotonia Hearing impairment Feeding difficulties Uveitis Glaucoma Behavioral abnormality Vomiting Inflammation of the large intestine Nystagmus Constipation Short stature Hepatomegaly Papule Failure to thrive Arthritis Myalgia Dysarthria Hyperreflexia Diarrhea

Rare Symptoms - Less than 30% cases


Renal insufficiency Tremor Splenomegaly Hypoplasia of the corpus callosum Hypertonia Blindness Alopecia Frontal bossing Arachnodactyly Myoclonus Hypertelorism Growth delay Unsteady gait Speech apraxia Ulcerative colitis Hypothyroidism Pancreatitis Difficulty walking Rigidity Infertility Truncal ataxia Lower limb spasticity Memory impairment Iridocyclitis Vertigo Headache Acne Delayed speech and language development Retrognathia EEG abnormality Carious teeth Hemiparesis Spina bifida Muscle stiffness Rheumatoid arthritis Visual loss Autoimmunity Esophagitis Hernia Inguinal hernia Umbilical hernia Anxiety Joint stiffness Brachycephaly Hydrocephalus Depressivity Vasculitis Arthralgia Erythema Cough Abnormal facial shape Lymphadenopathy Migraine Gastrointestinal hemorrhage Purpura Absent speech Apathy Chorea Recurrent aphthous stomatitis Congenital cataract Optic neuritis Strabismus Cleft palate Motor delay Cognitive impairment Abnormality of movement Weight loss Aciduria Sepsis Hypogonadism Long eyelashes Anorexia Abdominal distention Muscular hypotonia Adducted thumb Dehydration Nausea and vomiting Anemia Micrognathia Intestinal obstruction Lethargy Myopathy Cerebral cortical atrophy Muscle weakness Pallor Respiratory distress Dystonia Reduced visual acuity Enterocolitis Neoplasm of the endocrine system Intracranial hemorrhage Cerebral ischemia Posterior uveitis Anterior uveitis Chorioretinitis Immunologic hypersensitivity Erythema nodosum Achalasia Thrombophlebitis Abnormal myocardium morphology Pleuritis Oral ulcer Restrictive ventilatory defect Arterial thrombosis Progressive proximal muscle weakness Increased inflammatory response Alopecia areata Stomatitis Endocarditis Psychotic episodes Adrenal insufficiency Short neck Patent ductus arteriosus Hypospadias Obesity Thrombocytopenia Abnormality of cardiovascular system morphology Recurrent infections Immunodeficiency Intellectual disability, severe Atrial septal defect Limb-girdle muscular dystrophy Ventricular septal defect Iritis Gowers sign High palate Impulsivity Hypopyon Athetosis Epididymitis Genital ulcers Panuveitis Superficial thrombophlebitis Orchitis Retrobulbar optic neuritis Decreased level of D-mannose in urine Pustule Myositis Myokymia Abnormal pyramidal sign Right ventricular dilatation Retinopathy Scarring Irritability Developmental regression Photophobia Dyspnea Dilatation Nocturnal seizures Exaggerated startle response Intellectual disability, borderline Malabsorption Hiatus hernia Atonic seizures Hypokinesia Loss of consciousness Myotonia Joint dislocation Abnormal levels of creatine kinase in blood Congenital hip dislocation Cerebral white matter atrophy Fasciculations Aspiration Frequent falls Stroke Paresthesia Raynaud phenomenon Muscle fiber atrophy Gangrene Pulmonary infiltrates CNS hypomyelination Recurrent ear infections Aseptic necrosis Pulmonary embolism Hemoptysis Pericarditis Keratoconjunctivitis sicca Glomerulopathy Blurred vision Epiphora Alacrima Confusion Pleural effusion Encephalitis Increased intracranial pressure Venous thrombosis Cranial nerve paralysis Aortic regurgitation Meningitis Subcutaneous nodule Mitral regurgitation Myocardial infarction Abnormal blistering of the skin Chest pain Abnormal heart morphology Blepharophimosis Infantile muscular hypotonia Hypoparathyroidism Abnormality of the endocrine system Hyporeflexia Echolalia Elevated serum creatine phosphokinase Myelomeningocele Truncus arteriosus Pierre-Robin sequence Hyperkeratosis Delusions Meningocele Hearing abnormality Vitiligo Juvenile rheumatoid arthritis Bipolar affective disorder Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Basal ganglia calcification Abnormality of the ear Elevated hepatic transaminase Myopathic facies Pulmonary artery atresia Seborrheic dermatitis Unilateral renal agenesis Impaired T cell function Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Aplasia of the thymus Arteria lusoria Paranoia Central nervous system degeneration Vascular ring Duodenal stenosis Perineal fistula Congenital conductive hearing impairment Right aortic arch with mirror image branching Aplasia of the uterus Right aortic arch Sacral meningocele Mood swings Unilateral lung agenesis Platybasia Unilateral primary pulmonary dysgenesis Perimembranous ventricular septal defect Interrupted aortic arch Myopia Intrauterine growth retardation Cerebral atrophy Graves disease Hypoplasia of the brainstem Obsessive-compulsive behavior Dementia Bifid uvula Low posterior hairline Psychosis Apraxia Tetralogy of Fallot Scapular winging Peripheral demyelination Amenorrhea Specific learning disability Renal agenesis Underdeveloped nasal alae Vesicoureteral reflux Hemolytic anemia Open mouth Bulbous nose Dysmetria Anal atresia Pulmonic stenosis Conotruncal defect Abnormality of the pinna Mental deterioration Aggressive behavior Conductive hearing impairment Hyperactivity Posteriorly rotated ears Primary amenorrhea Generalized-onset seizure Psoriasiform dermatitis Generalized tonic-clonic seizures Dysdiadochokinesis Cholelithiasis Proximal muscle weakness Epileptic encephalopathy Hyperlordosis Abnormality of the liver Attention deficit hyperactivity disorder Muscular dystrophy Abnormality of the hand Schizophrenia Arnold-Chiari malformation Bicuspid aortic valve Hip dysplasia Poor speech Inability to walk Holoprosencephaly Hepatic steatosis Narrow palpebral fissure Multicystic kidney dysplasia Muscle cramps Waddling gait Focal-onset seizure Hypocalcemia Hallucinations Renal dysplasia Nasal speech Nephritis Sleep disturbance Limb ataxia Hand tremor Retinal atrophy Hyperactive deep tendon reflexes Ankle clonus Gaze-evoked nystagmus Sensory axonal neuropathy Postural tremor External ophthalmoplegia Oculomotor apraxia Type I diabetes mellitus Horizontal nystagmus Type II diabetes mellitus Progeroid facial appearance Progressive cerebellar ataxia Postural instability Sensory neuropathy Distal amyotrophy Peripheral axonal neuropathy Ophthalmoplegia Neurological speech impairment Gait ataxia Diabetes mellitus Cerebellar hypoplasia Babinski sign Oligomenorrhea Hypoplasia of the pons Peripheral neuropathy Hepatosplenomegaly Conjunctivitis Recurrent pneumonia Nephrotic syndrome Optic disc pallor Eczema Limitation of joint mobility Retinal dystrophy Nausea Skin rash Nyctalopia Postnatal growth retardation Hyperhidrosis Head tremor Rod-cone dystrophy Pneumonia Flexion contracture Abnormal motor evoked potentials Abnormality of the sella turcica Parietal cortical atrophy Old-aged sensorineural hearing impairment Abnormal involuntary eye movements Delayed menarche Saccadic smooth pursuit Impaired proprioception Corpus callosum atrophy Dysphagia Abnormality of enteric ganglion morphology Leukocytosis Impaired platelet aggregation Hyperhomocystinemia Methylmalonic acidemia Homocystinuria Spastic ataxia Methylmalonic aciduria Increased mean corpuscular volume Megaloblastic anemia Abnormality of the nervous system Acidosis Hyperopic astigmatism Hypopigmentation of the fundus Ocular albinism Megaloblastic bone marrow Hypoplasia of the fovea Interstitial pulmonary abnormality Menorrhagia Albinism Optic nerve hypoplasia Abnormal lung morphology Epistaxis Abnormal bleeding Hypopigmentation of the skin Bruising susceptibility Astigmatism Decreased methylcobalamin Decreased methionine synthase activity Total intestinal aganglionosis Flat occiput Intestinal perforation Functional abnormality of the gastrointestinal tract Neoplasm of the thyroid gland Total colonic aganglionosis Anteverted ears Central hypoventilation Intestinal polyposis Heterochromia iridis Hypoventilation Long nose Malnutrition Failure to thrive in infancy Decreased adenosylcobalamin Abnormal autonomic nervous system physiology Increased body weight Low anterior hairline Aganglionic megacolon Sloping forehead Dental malocclusion Thick eyebrow Prominent nasal bridge Ptosis Sensorineural hearing impairment Hypomethioninemia Decreased methylmalonyl-CoA mutase activity Urticaria Hypermelanotic macule Falls Sprengel anomaly Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Broad face Abnormality of the neck Short 4th metacarpal Skin tags Down-sloping shoulders Fragile nails Narrow nose Thoracic scoliosis Cervical ribs Abnormality of the sternum Vertebral fusion Agenesis of permanent teeth Long fingers Basal cell carcinoma Milia Disproportionate tall stature Melanocytic nevus Glomerulonephritis Relative macrocephaly Neoplasm of the skin Supernumerary ribs Hamartomatous polyposis Hemivertebrae Cardiac rhabdomyoma Hip dislocation Apnea Gastroesophageal reflux Encephalopathy Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Bifid ribs Fibroma Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Spina bifida occulta Hypogonadotrophic hypogonadism Elevated erythrocyte sedimentation rate Erysipelas Abnormality of the skeletal system Downslanted palpebral fissures Macrocephaly Wide nasal bridge Brachydactyly Epicanthus Cryptorchidism Pharyngitis Serositis Cervical lymphadenopathy Neutrophilia Porokeratosis Syndactyly Neuritis Increased IgA level Chills Peritonitis Large forehead Acrocyanosis Posterior subcapsular cataract Poor coordination Peripheral visual field loss Episodic fever Subcapsular cataract Amyloidosis Abnormality of the dentition Microphthalmia Short ribs Cleft upper lip Bradycardia Hyperpigmentation of the skin Exotropia Abnormality of the ribs Cerebral calcification Hypotension Nevus Palmoplantar keratoderma Postaxial polydactyly Iris coloboma Oral cleft Hypotrichosis Pectus excavatum Coloboma Sparse hair Facial palsy Cleft lip Telecanthus Proteinuria Carcinoma Coarse facial features Kyphoscoliosis Mandibular prognathia Proptosis Polydactyly Exophoria



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Constipation, related diseases and genetic alterations Myopia and Ventriculomegaly, related diseases and genetic alterations Congestive heart failure and Aggressive behavior, related diseases and genetic alterations Hydrocephalus and Vertigo, related diseases and genetic alterations Cleft palate and Cerebellar hypoplasia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more