Ataxia, and Asthma

Diseases related with Ataxia and Asthma

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


Top matches:

Medium match CHOREA, BENIGN HEREDITARY; BHC


CHOREA, BENIGN HEREDITARY; BHC Is also known as hereditary progressive chorea without dementia|bch

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Motor delay
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about CHOREA, BENIGN HEREDITARY; BHC

Low match BRAIN-LUNG-THYROID SYNDROME


Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).

BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRAIN-LUNG-THYROID SYNDROME

Low match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

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Other less relevant matches:

Low match BARDET-BIEDL SYNDROME 1; BBS1


Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 1; BBS1

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 MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2


Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Low match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B


Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mngie, polg-related|mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Low match MYOTONIA PERMANENS


Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Epicanthus
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about MYOTONIA PERMANENS

Top 5 symptoms//phenotypes associated to Ataxia and Asthma

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

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

Uncommon Symptoms - Between 30% and 50% cases


Behavioral abnormality Motor delay Short stature Poor coordination Recurrent respiratory infections Hepatic fibrosis Rod-cone dystrophy Visual impairment Cataract Pigmentary retinopathy Abnormality of the cerebral white matter Growth delay Retinopathy Respiratory tract infection Respiratory failure Strabismus Myoclonus Dysarthria Generalized hypotonia Ophthalmoplegia Dystonia

Rare Symptoms - Less than 30% cases


Retinal degeneration Dyspnea Truncal obesity Myalgia Left ventricular hypertrophy Specific learning disability Decreased testicular size Retinal dystrophy Hirsutism Stage 5 chronic kidney disease Dry skin Pulmonic stenosis Menstrual irregularities Abnormality of the kidney Polydactyly Diabetes mellitus Hypogonadism Obesity Renal insufficiency Macrocephaly Hypertension Abdominal distention Delayed speech and language development Broad foot Abdominal pain Low-set ears Encephalopathy Nausea Obsessive-compulsive behavior Postnatal growth retardation Irritability Autism Depressivity Malnutrition Hypertonia Vomiting Peripheral neuropathy Abnormality of retinal pigmentation Recurrent otitis media Attention deficit hyperactivity disorder Abnormality of the liver Hepatosplenomegaly Osteopenia Nystagmus Splenomegaly Congestive heart failure Cardiomyopathy Short neck Hepatomegaly Talipes equinovarus Tremor Decreased liver function Constipation Kyphosis Hyperreflexia Gastroesophageal reflux Recurrent pneumonia Failure to thrive Conductive hearing impairment Muscle weakness Sleep disturbance Apnea Chorea Brachydactyly Hypothyroidism High palate Pneumonia Eczema Respiratory distress Anemia Respiratory insufficiency Sensorineural hearing impairment Gait disturbance Anxiety Hyporeflexia Scoliosis Dysphagia Nephritis Sensory ataxic neuropathy Hyperglycemia Chronic otitis media Aplasia/Hypoplasia of the cerebellum Hyperostosis Hyperinsulinemia Polydipsia Acne Impaired vibratory sensation Epicanthus Hyperlordosis Constriction of peripheral visual field Portal hypertension Gastrointestinal dysmotility Lipodystrophy Receptive language delay Diabetes insipidus Glycosuria Peripheral visual field loss Retinal atrophy Insulin-resistant diabetes mellitus Hypoventilation Severe sensorineural hearing impairment Autoimmune thrombocytopenia Thoracic scoliosis Pericarditis Subcapsular cataract Increased number of teeth Hyperuricemia Bronchitis Glomerulopathy Glucose intolerance Progressive sensorineural hearing impairment Agenesis of permanent teeth Short finger Polyphagia Chorioretinal atrophy Pericardial effusion Abnormal retinal morphology Urinary urgency Hydroureter Pulmonary fibrosis Emphysema Polyuria Muscle cramps Goiter Precocious puberty Skeletal muscle hypertrophy Insulin resistance Anorexia Ophthalmoparesis Chronic diarrhea Thickened skin Recurrent urinary tract infections Involuntary movements Hypertriglyceridemia Pulmonary arterial hypertension Epidermal acanthosis Type II diabetes mellitus Cardiomegaly Abnormality of the voice Optic disc pallor Hepatitis Cyanosis Progressive visual loss Otitis media Growth hormone deficiency Gastrointestinal hemorrhage Round face Urinary incontinence Vesicoureteral reflux Ascites Nephropathy Myotonia Hyperpigmentation of the skin Elevated alkaline phosphatase Acanthosis nigricans Cholelithiasis Abnormality of the hand Polycystic ovaries Hyperventilation Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Pancreatitis Hyperlipidemia Chest pain Atherosclerosis Macular degeneration Sinusitis Accelerated skeletal maturation Absence seizures Nephrocalcinosis Hypogonadotrophic hypogonadism Generalized hirsutism Limitation of joint mobility Increased body weight Horizontal nystagmus Hypergonadotropic hypogonadism Short toe Gynecomastia EMG abnormality Alopecia of scalp Pendular nystagmus Oligomenorrhea Abnormal chorioretinal morphology Urethral obstruction Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Ventriculomegaly Myopathy Female hypogonadism Hypoglycemia Impaired temperature sensation Urethral stricture Epigastric pain Hypoplastic male external genitalia Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Chronic infection Abnormal spermatogenesis Decreased glomerular filtration rate Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Frontal balding Increased total bilirubin Abnormality of the pituitary gland Abnormality of the femoral head Vertical nystagmus High-frequency sensorineural hearing impairment Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Granular macular appearance Thickened ears Dilatation of the bladder Increased circulating androgen level Unilateral breast hypoplasia Glue ear Recurrent cystitis Widely-spaced incisors Hepatic necrosis Abnormal retinal artery morphology Childhood-onset truncal obesity Precocious puberty in females EEG with occipital slowing Abnormality of prothrombin Multifocal atrial tachycardia Abnormality of renal calyx morphology ST segment depression Facial hirsutism Localized hirsutism Chronic hepatic failure Vitreous haze Malabsorption Bull's eye maculopathy Slender build Oligospermia Hypokalemia Bilateral talipes equinovarus Restrictive cardiomyopathy Esophageal varix Chronic obstructive pulmonary disease Celiac disease Chronic fatigue Myocardial fibrosis Mitochondrial myopathy Progressive external ophthalmoplegia Male hypogonadism Myocarditis High-frequency hearing impairment Tubular atrophy Recurrent bronchitis Acute hepatic failure Elevated serum creatinine Right ventricular hypertrophy Attenuation of retinal blood vessels Tubulointerstitial nephritis Hyperostosis frontalis interna Gingivitis Ketoacidosis Hypomagnesemia Posterior subcapsular cataract Cachexia Ragged-red muscle fibers Multinodular goiter Urinary retention Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Achromatopsia Acute pancreatitis Chills Pyelonephritis Poor fine motor coordination Hepatic failure Unsteady gait Generalized muscle weakness Arteriosclerosis Ovarian cyst Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Disinhibition Retinal pigment epithelial atrophy Endocardial fibroelastosis Abnormal renal morphology Decreased HDL cholesterol concentration External ophthalmoplegia Leukoencephalopathy Hepatic steatosis Hyperphenylalaninemia Tachycardia Primary amenorrhea Macular dystrophy Hypoplasia of the uterus Tricuspid regurgitation Radial deviation of finger Clubbing Anosmia Bicuspid aortic valve Situs inversus totalis Dental crowding Aganglionic megacolon Abnormality of the genital system Postaxial hand polydactyly Nephronophthisis Amenorrhea Hypodontia Short foot High, narrow palate Postaxial polydactyly Iris coloboma Astigmatism Paraplegia Neurological speech impairment Coloboma Reduced visual acuity External genital hypoplasia Foot polydactyly Glaucoma Agenesis of corpus callosum Diarrhea Hydrocephalus Flexion contracture Ptosis Hepatocellular carcinoma Heterotopia Aciduria Bruising susceptibility Intellectual disability, moderate Carcinoma Acidosis Abnormality of metabolism/homeostasis Undetectable electroretinogram Intellectual disability, mild Hypertelorism Septate vagina Hydrometrocolpos Nephrogenic diabetes insipidus Biliary tract abnormality Microphallus Tapetoretinal degeneration Vaginal atresia Abnormality of the ovary Gait imbalance Micropenis Syndactyly Pes cavus Abnormality of movement Increased thyroid-stimulating hormone level Parkinsonism with favorable response to dopaminergic medication Congenital hypothyroidism Abnormality of the thyroid gland Interstitial pulmonary abnormality Athetosis Neonatal respiratory distress Hyperkinesis Infantile muscular hypotonia Abnormal lung morphology Choreoathetosis Abnormal cardiac septum morphology Thyroid dysgenesis Difficulty walking Gait ataxia Atrial septal defect Ventricular septal defect Skeletal muscle atrophy Fever Muscular hypotonia Axial dystonia Astrocytosis Neuronal loss in central nervous system Mental deterioration Compensated hypothyroidism Abnormal facial shape Myopia Leukopenia Cryptorchidism Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Atopic dermatitis Combined immunodeficiency Glomerulonephritis Recurrent skin infections Narrow palpebral fissure Abnormality of the skeletal system Vasculitis Lymphopenia Bronchiectasis Inflammatory abnormality of the skin Lymphoma Sensory impairment Neutropenia Hemolytic anemia Erythema Abnormality of the nervous system Recurrent infections Immunodeficiency Inguinal hernia Severe short stature Cirrhosis Prenatal maternal abnormality Abnormality of the dentition Blindness Fatigue Optic atrophy Feeding difficulties Pain Maternal hyperphenylalaninemia Reduced phenylalanine hydroxylase activity Phenylpyruvic acidemia Increased level of hippuric acid in urine Microphakia Body odor Clinodactyly Folate deficiency Mood changes Abnormal posturing Generalized hypopigmentation Fair hair Blue irides Self-mutilation Iron deficiency anemia Scleroderma Hypoplastic left heart Spontaneous abortion Dilatation Visual loss Coarctation of aorta Sparse hair Lymphadenopathy Infertility Delayed puberty Carious teeth Hypermetropia Hypotrichosis Generalized tonic-clonic seizures Dilated cardiomyopathy Cough Nyctalopia Scarring Autistic behavior Patent ductus arteriosus Pallor Proteinuria Elevated hepatic transaminase Deeply set eye Photophobia Jaundice Pes planus Kyphoscoliosis Weight loss Hyperkeratosis Hyperhidrosis Alopecia Psychosis Cerebral calcification Coarse facial features Hypertrichosis Sleep apnea Corneal dystrophy Widely spaced teeth Aortic regurgitation Spastic tetraparesis Intellectual disability, progressive Exercise intolerance Elbow flexion contracture Hoarse voice Split hand Progressive neurologic deterioration Tetraparesis Mild short stature Thick lower lip vermilion Intellectual disability, profound Spastic tetraplegia Macroglossia Tetraplegia Postural instability Delayed eruption of teeth Neurodegeneration Dolichocephaly Corneal opacity Umbilical hernia Incoordination Abnormal heart valve morphology Delayed myelination Spasticity Pruritus Skin rash Aggressive behavior Hyperactivity Abnormal heart morphology Abnormality of cardiovascular system morphology Headache Hypoplasia of the corpus callosum Anteverted nares Intrauterine growth retardation Wide nasal bridge Microcephaly Scaphocephaly Dermatan sulfate excretion in urine Retinoschisis Tracheobronchomalacia Cervical cord compression Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Retinal fold Intestinal pseudo-obstruction Myelopathy Dysostosis multiplex Obstructive sleep apnea Papilledema Generalized muscle hypertrophy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Glomerulonephritis, related diseases and genetic alterations Autoimmunity and Polydactyly, related diseases and genetic alterations Delayed speech and language development and Decreased antibody level in blood, related diseases and genetic alterations Visual impairment and Micropenis, related diseases and genetic alterations Abnormal facial shape and Bruising susceptibility, related diseases and genetic alterations Scoliosis and Arachnodactyly, related diseases and genetic alterations

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