Ataxia, and Bronchiectasis

Diseases related with Ataxia and Bronchiectasis

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


Top matches:

Medium match USHER SYNDROME TYPE 1


Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss. Genetic Heterogeneity of Usher Syndrome Type IUSH type I is genetically heterogeneous. USH1C (OMIM ), the 'Acadian variety,' is caused by mutation in harmonin (OMIM ), on 11p15. USH1D (OMIM ) is caused by mutation in the cadherin-23 (CDH23 ) on 10q21. USH1F (OMIM ) is caused by mutation in the protocadherin-15 (PCDH15 ) on 10q22. USH1G (OMIM ) is caused by mutation in the SANS gene (OMIM ), on 17q25. USH1E (OMIM ) maps to 21q21, and USH1H (OMIM ) maps to 15q22-q23. USH1J (OMIM ) is caused by mutation in the CIB2 gene (OMIM ) on 15q24. USH1K (OMIM ) maps to chromosome 10p11.21-q21.1.A form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.Gerber et al. (2006) presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.Ahmed et al. (2003) reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.

USHER SYNDROME TYPE 1 Is also known as ush1|retinitis pigmentosa and congenital deafness|us1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about USHER SYNDROME TYPE 1

Medium 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

Medium match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Mendelian

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

Learn more

Other less relevant matches:

Medium match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Low match CILIARY DYSKINESIA, PRIMARY, 17; CILD17


Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by Panizzi et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

CILIARY DYSKINESIA, PRIMARY, 17; CILD17 Is also known as ciliary dyskinesia, primary, 17, with or without situs inversus

Related symptoms:

  • Respiratory distress
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Paralysis
  • Cough


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 17; CILD17

Low match CILIARY DYSKINESIA, PRIMARY, 5; CILD5


CILD5 is an autosomal recessive disorder characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus (summary by Olbrich et al., 2012).

CILIARY DYSKINESIA, PRIMARY, 5; CILD5 Is also known as ciliary dyskinesia, primary, 5, without situs inversus

Related symptoms:

  • Respiratory insufficiency
  • Respiratory distress
  • Recurrent infections
  • Pneumonia
  • Cough


SOURCES: MESH OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 5; CILD5

Low match CILIARY DYSKINESIA, PRIMARY, 24; CILD24


Primary ciliary dyskinesia-24 is an autosomal recessive disorder resulting from defects of motile cilia. It is characterized clinically by sinopulmonary infection and subfertility; situs inversus is not observed. Ultrastructural examination of mutant cilia shows defects of the central microtubule complex and radial spokes (summary by Kott et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.

CILIARY DYSKINESIA, PRIMARY, 24; CILD24 Is also known as ciliary dyskinesia, primary, 24, without situs inversus

Related symptoms:

  • Respiratory distress
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Cough
  • Infertility


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 24; CILD24

Low match CILIARY DYSKINESIA, PRIMARY, 26; CILD26


Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Austin-Tse et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see {244400}.

CILIARY DYSKINESIA, PRIMARY, 26; CILD26 Is also known as ciliary dyskinesia, primary, 26, with or without situs inversus

Related symptoms:

  • Respiratory distress
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Paralysis
  • Infertility


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 26; CILD26

Low match SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY


IMD52 is an autosomal recessive primary immunodeficiency with variable manifestations, including severe combined immunodeficiency, hematologic autoimmune disorders, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy, and most die without bone marrow transplantation. The variable clinical features result from a defect in T-cell receptor signaling (summary by Keller et al., 2016 and Bacchelli et al., 2017).

SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY Is also known as scid due to lat deficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY

Low match X-LINKED LYMPHOPROLIFERATIVE DISEASE


X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).

X-LINKED LYMPHOPROLIFERATIVE DISEASE Is also known as xlpd|duncan disease|xlp|immunodeficiency 5|infectious mononucleosis, severe, susceptibility to|purtilo syndrome|imd5|ebvs|lymphoproliferative disease, x-linked|epstein-barr virus infection, familial fatal|lyp|ebv infection, severe, susceptibility to|immun

Related symptoms:

  • Seizures
  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED LYMPHOPROLIFERATIVE DISEASE

Top 5 symptoms//phenotypes associated to Ataxia and Bronchiectasis

Symptoms // Phenotype % cases
Recurrent respiratory infections Common - Between 50% and 80% cases
Pneumonia Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Sinusitis Uncommon - Between 30% and 50% cases
Respiratory tract infection Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Combined immunodeficiency Anemia Lymphoma Respiratory distress Lymphopenia Intellectual disability Dyskinesia Recurrent infections Cerebral palsy Situs inversus totalis Ciliary dyskinesia Cough Recurrent sinusitis Seizures Short stature Thrombocytopenia Neoplasm Severe combined immunodeficiency Failure to thrive Rhinitis Otitis media Recurrent pneumonia Hemolytic anemia Recurrent bronchitis B-cell lymphoma Global developmental delay Decreased antibody level in blood

Rare Symptoms - Less than 30% cases


Vasculitis Productive cough Respiratory insufficiency due to defective ciliary clearance Recurrent otitis media Chronic bronchitis Skeletal muscle atrophy Microcephaly Cafe-au-lait spot Pancytopenia Dysgammaglobulinemia Abnormality of chromosome stability Acute lymphoblastic leukemia Autoimmune hemolytic anemia Hodgkin lymphoma Abnormality of the hair Telangiectasia Paralysis Recurrent urinary tract infections Cellular immunodeficiency Leukemia Respiratory failure Non-Hodgkin lymphoma Respiratory insufficiency Absent outer dynein arms Abnormality of the nervous system Muscle weakness Infertility Scoliosis Anxiety Chronic sinusitis Immune dysregulation Sensorineural hearing impairment Increased antibody level in blood Lymphadenopathy Hepatosplenomegaly Hearing impairment Splenomegaly Myoclonus Neonatal respiratory distress Cognitive impairment Dysarthria IgA deficiency Multiple cafe-au-lait spots Athetosis Pure red cell aplasia Increased IgM level Glucose intolerance Premature graying of hair Resting tremor Chorioretinitis Aplasia/Hypoplasia of the skin Hepatocellular carcinoma Granulomatosis Histiocytosis Recurrent lower respiratory tract infections Hypopigmentation of hair Telangiectasia of the skin Hepatic encephalopathy Abnormality of the immune system Myeloid leukemia Hepatic necrosis Prematurely aged appearance Spinal muscular atrophy Oculomotor apraxia Polycystic ovaries Apraxia Delayed puberty Abnormality of eye movement Abnormality of movement Unsteady gait Distal amyotrophy Polyneuropathy Abnormal cerebellum morphology Progressive cerebellar ataxia Chorea Hepatitis Type II diabetes mellitus Slurred speech Intention tremor Choreoathetosis Reduced natural killer cell activity Limb ataxia Abnormal vertebral morphology Truncal ataxia Recurrent pharyngitis Reduced tendon reflexes Pharyngitis Burkitt lymphoma Breast carcinoma Lymphocytosis Absent Achilles reflex Chromosome breakage Dextrocardia Interosseus muscle atrophy Hepatic failure IgE deficiency Defective B cell differentiation Falls Distal muscle weakness Dilatation Fever Hepatomegaly Chronic lung disease Chronic rhinitis Decreased/absent ankle reflexes Leukoencephalopathy Abnormal respiratory motile cilium morphology Abnormal lung morphology Chronic otitis media Bronchitis Autoimmunity Reduced sperm motility Nasal polyposis Immotile cilia Recurrent ear infections Chronic obstructive pulmonary disease Memory impairment Hemiparesis Aplastic anemia Sarcoma Renal neoplasm Abnormality of the testis Lymphoproliferative disorder Spinocerebellar tract degeneration Hypoplasia of the thymus Chronic lymphatic leukemia Agammaglobulinemia IgG deficiency Conjunctival telangiectasia Chronic myelogenous leukemia Neoplasm of the breast Abnormal spermatogenesis Immunoglobulin IgG2 deficiency Elevated alpha-fetoprotein Decreased proportion of CD4-positive T cells Chronic hepatitis Female hypogonadism Increased sensitivity to ionizing radiation Aplasia/Hypoplasia of the thymus Mucosal telangiectasiae Encephalitis Bone marrow hypocellularity Progressive spinal muscular atrophy Meningitis Neurological speech impairment B lymphocytopenia Abnormality of the liver Inflammatory abnormality of the skin Generalized hypotonia Abnormal facial shape High palate Brachydactyly Abnormality of the skeletal system Hyporeflexia Gastroesophageal reflux Conductive hearing impairment Erythema Neutropenia Asthma Sensory impairment Eczema Narrow palpebral fissure Abnormal cochlea morphology Leukopenia Recurrent skin infections Glomerulonephritis Atopic dermatitis Allergic rhinitis Membranoproliferative glomerulonephritis Vasculitis in the skin Autoimmune neutropenia Cortical myoclonus Growth delay Micrognathia Cleft palate Depressed nasal bridge Intrauterine growth retardation Absent vestibular function Vestibular hypofunction Diarrhea Abnormality of dental enamel Cataract Motor delay Blindness Depressivity Visual loss Rod-cone dystrophy Cerebral cortical atrophy Abnormality of the eye Nyctalopia Progressive visual loss Psychosis Clumsiness Hallucinations Progressive hearing impairment Subcortical cerebral atrophy Mutism Schizophrenia Abnormal electroretinogram Aplasia/Hypoplasia of the cerebellum Vestibular dysfunction Decreased fertility Scotoma High hypermetropia Severe hearing impairment Iris hypopigmentation Peripheral visual field loss Undetectable electroretinogram Tapetoretinal degeneration Hemianopia Short neck Hypospadias Carcinoma Malar prominence Acute leukemia Abnormal eyelid morphology Recurrent sinopulmonary infections Medulloblastoma Glioma Rhabdomyosarcoma Abnormal hair quantity Decrease in T cell count Pollakisuria T-cell lymphoma Recurrent infection of the gastrointestinal tract Anorectal anomaly Penoscrotal hypospadias Mastoiditis Anal stenosis Progressive vitiligo Nystagmus Strabismus Spasticity Flexion contracture Peripheral neuropathy Tremor Gait disturbance Cerebellar atrophy Dystonia Diabetes mellitus Gait ataxia Difficulty walking Elevated hepatic transaminase Hearing abnormality Neuroblastoma Upslanted palpebral fissure Convex nasal ridge Hyperactivity Macrotia Retrognathia Hydronephrosis Intellectual disability, moderate Mental deterioration Attention deficit hyperactivity disorder Prominent nasal bridge Small for gestational age Anal atresia Cleft upper lip Neurodegeneration Prominent nose Amenorrhea Abnormality of the musculature Sloping forehead Cutaneous photosensitivity Primary amenorrhea Choanal atresia Abnormality of the face Chronic diarrhea Low anterior hairline Cachexia Deep philtrum Premature ovarian insufficiency Abnormality of neuronal migration Non-midline cleft lip Long nose Freckling Fulminant hepatitis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Bruising susceptibility, related diseases and genetic alterations Lymphoma and Myelodysplasia, related diseases and genetic alterations Lymphoma and Dystonia, related diseases and genetic alterations Peripheral neuropathy and Difficulty walking, related diseases and genetic alterations Cleft palate and Subcutaneous nodule, related diseases and genetic alterations Cleft palate and Abnormal heart morphology, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more