Cognitive impairment, and Infertility

Diseases related with Cognitive impairment and Infertility

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

Top matches:

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

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

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

Other less relevant matches:

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

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

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

Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

MYOTONIC DYSTROPHY 2; DM2 Is also known as promm|proximal myotonic myopathy|dystrophia myotonica 2|myotonic myopathy, proximal|ricker syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 2; DM2

The hereditary spastic paraplegias are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997).SPG is classified according to both the mode of inheritance (autosomal dominant, autosomal recessive (see {270800}), and X-linked (see {303350})) and whether progressive spasticity occurs in isolation ('uncomplicated SPG') or with other neurologic abnormalities ('complicated SPG'), including optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, ataxia, ichthyosis, mental retardation, and deafness. The major neuropathologic feature of autosomal dominant, uncomplicated SPG is axonal degeneration that is maximal in the terminal portions of the longest descending and ascending tracts (crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis, respectively). Spinocerebellar fibers are involved to a lesser extent. Since the description of 'pure' hereditary spastic paraparesis of late onset by Strumpell (1904), many 'complicated' forms of the disorder have been reported and the question as to whether a 'pure' form exists has been raised off and on. Probably in large part because of their exceptional length, the pyramidal tracts are unusually vulnerable to both acquired and genetic derangement. Although a majority of reported families have displayed recessive inheritance, 10 to 30% of families have a dominant pattern and in fact recessive inheritance of a 'pure' spastic paraplegia may be rare. Genetic Heterogeneity of Autosomal Dominant Spastic ParaplegiaIn addition to SPG3A, other forms of autosomal dominant spastic paraplegia for which the molecular basis is known include SPG4 (OMIM ), caused by mutation in the SPAST gene (OMIM ) on 2p22; SPG6 (OMIM ), caused by mutation in the NIPA1 gene (OMIM ) on 15q11; SPG8 (OMIM ), caused by mutation in the KIAA0196 gene (OMIM ) on 8q24; SPG9A (OMIM ), caused by mutation in the ALDH18A1 gene (OMIM ) on 10q24; SPG10 (OMIM ), caused by mutation in the KIF5A gene (OMIM ) on 12q13; SPG12 (OMIM ), caused by mutation in the RTN2 gene (OMIM ) on 19q13; SPG13 (OMIM ), caused by mutation in the SSPD1 gene (OMIM ) on 2q33.1; SPG31 (OMIM ), caused by mutation in the REEP1 gene (OMIM ) on 2p11; SPG33 (OMIM ), caused by mutation in the ZFYVE27 gene (OMIM ) on 10q24; SPG72 (OMIM ), caused by mutation in the REEP2 gene (OMIM ) on 5q31; and SPG73 (OMIM ), caused by mutation in the CPT1C gene (OMIM ) on 19q13.Autosomal dominant spastic paraplegia has been mapped to chromosomes 9q (SPG19 ), 1p31-p21 (SPG29 ), 12q23-q24 (SPG36 ), 8p21.1-q13.3 (SPG37 ), 4p16-p15 (SPG38 ), and 11p14.1-p11.2 (SPG41 ).

SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A Is also known as spg3|fsp1|strumpell disease|familial spastic paraplegia, autosomal dominant, 1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

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

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Top 5 symptoms//phenotypes associated to Cognitive impairment and Infertility

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Mental deterioration Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Tremor

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Intellectual disability Peripheral neuropathy Peripheral axonal neuropathy Hyperreflexia Gait disturbance Dysphagia Gait ataxia Hypogonadism Dementia Progressive cerebellar ataxia Diabetes mellitus Lower limb spasticity Head tremor Cataract Sensory neuropathy Hypertension Pes cavus Babinski sign Nystagmus Scoliosis Muscle weakness Memory impairment Abnormal cerebellum morphology Dysmetria Lower limb muscle weakness Hypoplasia of the corpus callosum Abnormality of the cerebral white matter Skeletal muscle atrophy Visual loss Spastic paraplegia Unsteady gait Visual impairment Paraplegia

Rare Symptoms - Less than 30% cases

Myopathy Retinal atrophy Seizures Increased body weight Hyperkinesis Delayed speech and language development Polyneuropathy Corpus callosum atrophy Ophthalmoplegia Abnormality of the nervous system Osteoporosis Cardiomyopathy Delayed puberty Flexion contracture Limb muscle weakness Hyporeflexia Kyphosis Areflexia Difficulty walking Abnormal involuntary eye movements Urinary incontinence Broad-based gait Abnormality of metabolism/homeostasis Spastic gait Truncal ataxia Impaired vibratory sensation Ankle clonus Impaired vibration sensation in the lower limbs Rod-cone dystrophy Postural tremor Cerebellar hypoplasia Fatigue Intellectual disability, mild Obesity Brisk reflexes Rigidity Personality changes Type II diabetes mellitus Hypogonadotrophic hypogonadism Clumsiness Chorea Anxiety Aggressive behavior Cerebral cortical atrophy Chorioretinal dystrophy Pneumonia Cerebral atrophy Oligomenorrhea Distal amyotrophy Testicular atrophy Short stature Confusion Motor delay Ptosis Abnormal facial shape Amenorrhea Myoclonus Depressivity Primary amenorrhea Neurological speech impairment Oculomotor apraxia Alopecia Taurodontia Arachnodactyly Postural instability Hypertonia Limb ataxia Pancreatitis Distal lower limb amyotrophy Degeneration of the lateral corticospinal tracts Type I diabetes mellitus Global developmental delay Glaucoma Neurogenic bladder Dorsocervical fat pad Hypothyroidism Horizontal nystagmus Long-tract signs Pituitary adenoma Urinary bladder sphincter dysfunction Tetraplegia Frontal balding Diffuse leukoencephalopathy Insulin insensitivity Iridescent posterior subcapsular cataract Respiratory distress Blindness Syndactyly Constipation Paralysis Retinopathy Nyctalopia Ichthyosis Spastic tetraplegia Poor coordination Decreased liver function Clonus Paraparesis Spastic paraparesis Cerebral palsy Growth abnormality Hand polydactyly Adducted thumb Macronodular adrenal hyperplasia Urinary urgency Axonal degeneration Progressive spasticity Optic neuropathy External ophthalmoplegia Failure to thrive Sensory axonal neuropathy Onychomycosis Psychosis Thin skin Nephrolithiasis Generalized hirsutism Venous thrombosis Recurrent skin infections Hypokalemia Lipodystrophy Premature ovarian insufficiency Metrorrhagia Acne Agitation Menorrhagia Round face Truncal obesity Mood changes Orthostatic hypotension Telangiectasia of the skin Striae distensae Generalized hyperpigmentation Aseptic necrosis Subarachnoid hemorrhage Bipolar affective disorder Increased circulating cortisol level Decreased circulating ACTH level Abdominal obesity Neoplasm of the endocrine system Hypotension Recurrent fractures Gaze-evoked nystagmus Parietal cortical atrophy Colitis Hyperactive deep tendon reflexes Uveitis Hand tremor Progeroid facial appearance Hypoplasia of the pons Ulcerative colitis Impaired proprioception Speech apraxia Saccadic smooth pursuit Delayed menarche Iridocyclitis Old-aged sensorineural hearing impairment Abnormality of the sella turcica Sleep disturbance Abnormal motor evoked potentials Neoplasm Adrenal hyperplasia Edema Immunodeficiency Headache Abdominal pain Osteopenia Lethargy Hypersomnia Bruising susceptibility Moon facies Hirsutism Type 2 muscle fiber atrophy Akinesia Arteriosclerosis Limb dysmetria Increased circulating gonadotropin level Amelogenesis imperfecta Decreased serum testosterone level Titubation Progressive peripheral neuropathy Limited extraocular movements Internuclear ophthalmoplegia Abnormal pyramidal sign Decreased testicular size Progressive spastic paraplegia Spastic dysarthria Upper limb spasticity Reduced sperm motility Gonadal dysgenesis Knee clonus Impaired vibration sensation at ankles Jerky ocular pursuit movements Abnormal sperm morphology Upper limb dysmetria Abnormal tendon morphology Sperm head anomaly Anemia Ventriculomegaly Behavioral abnormality Dystonia Hyperactivity Severe sensorineural hearing impairment Secondary amenorrhea Arthritis Aspiration Azoospermia Male infertility Photophobia Retinal dystrophy Progressive visual loss Intention tremor Chorioretinal atrophy Scanning speech Abnormal upper motor neuron morphology Spinocerebellar atrophy Abnormality of the skeletal system Parkinsonism Dysdiadochokinesis Spastic diplegia Impulsivity Atrophy/Degeneration affecting the brainstem Loss of speech Aspiration pneumonia Inappropriate behavior Sensorineural hearing impairment High palate Talipes equinovarus Short neck Sensorimotor neuropathy Bilateral ptosis Hammertoe Weight loss Irritability Neck flexor weakness Palpitations Pain Congestive heart failure Arrhythmia Elevated serum creatine phosphokinase Proximal muscle weakness Myalgia Distal muscle weakness Muscular dystrophy Dilated cardiomyopathy Tachycardia Sudden cardiac death Decreased antibody level in blood Progressive muscle weakness Frequent temper tantrums Spontaneous abortion Hypercholesterolemia Leukoencephalopathy Myotonia Epiphora Increased variability in muscle fiber diameter Neurofibrillary tangles IgG deficiency Oligospermia Male hypogonadism Elevated circulating follicle stimulating hormone level IgM deficiency Oral motor hypotonia Suicidal ideation Cough Incoordination Abnormality of eye movement Abnormality of movement Falls Neurodegeneration Gliosis Brain atrophy Neuronal loss in central nervous system Bradykinesia Generalized-onset seizure Progressive neurologic deterioration Involuntary movements Schizophrenia Slurred speech Neuronal loss in basal ganglia Rheumatoid arthritis Obsessive-compulsive behavior Hypokinesia Muscle fibrillation Bronchitis Cerebellar vermis atrophy Restlessness Upper limb undergrowth Chronic bronchitis Dilated fourth ventricle Paranoia Mania Primary hypercortisolism


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