Ataxia, and Infertility

Diseases related with Ataxia and Infertility

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


Top matches:

Medium match SPINOCEREBELLAR ATAXIA TYPE 32


Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males.

SPINOCEREBELLAR ATAXIA TYPE 32 Is also known as cerebellar ataxia with azoospermia and intellectual disability|sca32

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Cerebellar atrophy
  • Infertility
  • Progressive cerebellar ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 32

Medium match BOUCHER-NEUHAUSER SYNDROME; BNHS


Boucher-Neuhauser syndrome is an autosomal recessive disorder characterized classically by the triad of spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop one or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. BNHS is part of a spectrum of neurodegenerative diseases associated with mutations in the PNPLA6 gene that also includes spastic paraplegia-39 (SPG39 ) (summary by Synofzik et al., 2014).See also Gordon Holmes syndrome (GDHS ), caused by mutation in the RNF216 gene (OMIM ), which is also characterized by the combination of cerebellar ataxia and hypogonadotropic hypogonadism.

BOUCHER-NEUHAUSER SYNDROME; BNHS Is also known as spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Visual impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about BOUCHER-NEUHAUSER SYNDROME; BNHS

Medium match GORDON HOLMES SYNDROME; GDHS


Gordon Holmes syndrome is an autosomal recessive adult-onset neurodegenerative disorder characterized by progressive cognitive decline, dementia, and variable movement disorders, such as ataxia and chorea. The neurologic phenotype is associated with hypogonadotropic hypogonadism (summary by Santens et al., 2015).

GORDON HOLMES SYNDROME; GDHS Is also known as cahh|cerebellar ataxia and hypogonadotropic hypogonadism|luteinizing hormone-releasing hormone, deficiency of, with ataxia|lhrh deficiency and ataxia

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Dysarthria
  • Abnormality of the skeletal system
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about GORDON HOLMES SYNDROME; GDHS

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Other less relevant matches:

Medium match TYROSINEMIA TYPE 2


Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.

TYROSINEMIA TYPE 2 Is also known as tyrosinemia due to tyrosine aminotransferase deficiency|keratosis palmoplantaris with corneal dystrophy|tyrosinemia due to tat deficiency|tyrosine transaminase deficiency|tyrosinosis, oculocutaneous type|tyrosine aminotransferase deficiency|keratosis palm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about TYROSINEMIA TYPE 2

Medium match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Medium match PERRAULT SYNDROME


Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46


Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46 Is also known as spg46

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46

Medium 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 RENAL CYSTS AND DIABETES SYNDROME


Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.

RENAL CYSTS AND DIABETES SYNDROME Is also known as renal dysfunction-early-onset diabetes syndrome|mody5|fjhn, atypical|cakut with diabetes|maturity-onset diabetes of the young, type 5|renal cysts-maturity-onset diabetes of the young syndrome|congenital anomalies of the kidney and urinary tract with diabe

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CYSTS AND DIABETES SYNDROME

Low match CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1


Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Failure to thrive
  • Anemia


SOURCES: OMIM MENDELIAN

More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

Top 5 symptoms//phenotypes associated to Ataxia and Infertility

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormal cerebellum morphology Mental deterioration Hearing impairment Intellectual disability Spasticity Gait disturbance Progressive cerebellar ataxia Nystagmus Areflexia Hyporeflexia Gait ataxia Short stature Dysphagia Delayed puberty Testicular atrophy Peripheral neuropathy Dementia Dysmetria Cerebral cortical atrophy

Rare Symptoms - Less than 30% cases


Difficulty walking Anemia Arthritis Depressivity Behavioral abnormality Delayed speech and language development Pain Sensory neuropathy Muscle fibrillation Neurodegeneration Hyperkinesis Irritability Reduced sperm motility Head tremor Broad-based gait Abnormality of the cerebral white matter Hyperreflexia Elevated hepatic transaminase Type II diabetes mellitus Aspiration pneumonia Peripheral axonal neuropathy Osteoporosis Pes cavus Scoliosis Anxiety Diabetes mellitus Polyneuropathy Weight loss Cerebral atrophy Primary amenorrhea Unsteady gait Paraplegia Hypogonadotrophic hypogonadism Spastic paraplegia Pneumonia Aggressive behavior Photophobia Amenorrhea Chorioretinal dystrophy Intention tremor Visual loss Hypogonadism Skeletal muscle atrophy Brisk reflexes Personality changes Male infertility Abnormality of metabolism/homeostasis Aspiration Chorea Frequent temper tantrums Renal hypoplasia Oral motor hypotonia Renal insufficiency Renal agenesis Global developmental delay Suicidal ideation Neuronal loss in basal ganglia Renal cyst Abnormality of the dentition Hirsutism Hypothyroidism Hypospadias Stage 5 chronic kidney disease Mandibular prognathia Jaundice Folate deficiency Abnormality of the abdominal wall Prolonged prothrombin time Proteinuria Abnormality of the kidney Hepatic steatosis Abnormality of the liver Nephropathy Joint hyperflexibility Abnormal involuntary eye movements Celiac disease Mania Clumsiness Vitamin K deficiency Rigidity Vitamin D deficiency Cough Abnormality of eye movement Abnormality of movement Falls Gliosis Brain atrophy Neuronal loss in central nervous system Bradykinesia Generalized-onset seizure Progressive neurologic deterioration Involuntary movements Paranoia Schizophrenia Incoordination Slurred speech Rheumatoid arthritis Obsessive-compulsive behavior Akinesia Hypokinesia Bronchitis Cerebellar vermis atrophy Restlessness Upper limb undergrowth Chronic bronchitis Dilated fourth ventricle Renal dysplasia Multicystic kidney dysplasia Recurrent aphthous stomatitis Diarrhea Malabsorption Autoimmunity Postnatal growth retardation Arthralgia Abdominal pain Alopecia Vomiting Nevus Fatigue Failure to thrive Iron deficiency anemia Abnormality of alkaline phosphatase activity Atretic vas deferens Abnormality of endocrine pancreas physiology Abdominal distention Lymphoma Aplasia/Hypoplasia of the pancreas Thyroiditis Malnutrition Abnormality of the coagulation cascade Macrocytic anemia Rickets Abnormal intestine morphology IgA deficiency Spontaneous abortion Cerebral calcification Type I diabetes mellitus Hypocalcemia Chronic diarrhea Hypoplasia of dental enamel Inflammatory abnormality of the skin Eczema Abnormality of exocrine pancreas physiology Decreased numbers of nephrons Nephrolithiasis Unilateral renal agenesis Acute kidney injury Hyperuricemia Glomerulopathy Glycosuria Hypoplasia of the uterus Glucose intolerance Polydipsia Renal cell carcinoma Pyloric stenosis Chronic kidney disease Spastic paraparesis Steatorrhea Paraparesis Horseshoe kidney Proportionate short stature Exocrine pancreatic insufficiency Papillary cystadenoma of the epididymis Renal Fanconi syndrome Thrombocytosis Chronic fatigue Epididymal cyst Prolonged partial thromboplastin time Multiple glomerular cysts Renal cortical cysts Uterus didelphys Stomatitis Pancreatic hypoplasia Ureteropelvic junction obstruction Biliary tract abnormality Maturity-onset diabetes of the young Bicornuate uterus Elevated serum creatinine Gout Absent vas deferens Kyphosis Hyperactivity Progressive muscle weakness Hypertyrosinemia Abnormality of amino acid metabolism 4-Hydroxyphenylpyruvic aciduria Herpetiform corneal ulceration Muscle weakness Muscular hypotonia Myopathy Elevated serum creatine phosphokinase Proximal muscle weakness Myalgia Muscular dystrophy Limb muscle weakness Facial asymmetry Muscle cramps Gynecomastia Epiphora Fasciculations Hyperlipidemia Dysphonia Limb-girdle muscular dystrophy Spinal muscular atrophy Calf muscle hypertrophy Amyotrophic lateral sclerosis Impotence Decreased fertility Bulbar palsy Axonal loss Abnormality of lipid metabolism Overweight Abnormality of the mouth Ocular pain Keratitis Bulbar signs Atrophy/Degeneration affecting the brainstem Azoospermia Visual impairment Distal amyotrophy Retinal dystrophy Progressive visual loss Chorioretinal atrophy Scanning speech Abnormal upper motor neuron morphology Spinocerebellar atrophy Abnormality of the skeletal system Parkinsonism Memory impairment Dysdiadochokinesis Impulsivity Loss of speech Palmoplantar hyperkeratosis Corneal opacity Abnormality of the nail Abnormality of the skin Hypoplasia of the maxilla Palmoplantar keratoderma Papule Neurological speech impairment Acidosis Oligomenorrhea Hyperkeratosis Hyperhidrosis Malar flattening Growth delay Microcephaly Inappropriate behavior Hand tremor Distal lower limb amyotrophy Myoclonus Ankle clonus Limited extraocular movements Internuclear ophthalmoplegia Cataract Flexion contracture Hypoplasia of the corpus callosum Babinski sign Abnormal pyramidal sign Lower limb muscle weakness Urinary incontinence Decreased testicular size Lower limb spasticity Spastic gait Truncal ataxia Impaired vibratory sensation Progressive spastic paraplegia Titubation Abnormal sperm morphology Dystonia Ventriculomegaly Hypertension Sperm head anomaly Abnormal tendon morphology Upper limb dysmetria Jerky ocular pursuit movements Impaired vibration sensation in the lower limbs Impaired vibration sensation at ankles Knee clonus Limb dysmetria Upper limb spasticity Spastic dysarthria Corpus callosum atrophy Progressive peripheral neuropathy Decreased serum testosterone level Oligospermia Motor delay Kinetic tremor Hyperlipoproteinemia Decreased LDL cholesterol concentration Tongue atrophy Limb tremor Motor neuron atrophy Exercise-induced muscle cramps Erectile abnormalities Laryngospasm Proximal spinal muscular atrophy Sensorineural hearing impairment Abnormal facial shape Ptosis High palate Talipes equinovarus Amelogenesis imperfecta Hammertoe Retinal atrophy Increased circulating gonadotropin level Severe sensorineural hearing impairment Gonadal dysgenesis Secondary amenorrhea Spastic diplegia Bilateral ptosis Short neck Sensorimotor neuropathy Ophthalmoplegia Abnormality of the nervous system Rod-cone dystrophy Cerebellar hypoplasia Intellectual disability, mild Vitamin B12 deficiency



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Photophobia, related diseases and genetic alterations Macrocephaly and Hirsutism, related diseases and genetic alterations Flexion contracture and Aganglionic megacolon, related diseases and genetic alterations Failure to thrive and Micromelia, related diseases and genetic alterations Nystagmus and Ventricular hypertrophy, related diseases and genetic alterations

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