Cognitive impairment, and Amenorrhea

Diseases related with Cognitive impairment and Amenorrhea

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


Top matches:

Medium match LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP


Progressive leukoencephalopathy with ovarian failure is an autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Some patients may have a history of delayed motor development or learning difficulties in early childhood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most patients lose speech and become wheelchair-bound or bedridden. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure (summary by Dallabona et al., 2014).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Spasticity
  • Motor delay
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP

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 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM


Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM Is also known as cach|cle|childhood ataxia with central nervous system hypomyelinization|cree leukoencephalopathy|vanishing white matter leukodystrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

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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

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

Low match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Low match CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME


Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Low match ALEXANDER DISEASE; ALXDRD


In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Low match AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Low 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

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

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Dysarthria Common - Between 50% and 80% cases
Primary amenorrhea Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Gait disturbance Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


Tremor

Common Symptoms - More than 50% cases


Premature ovarian insufficiency

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Spasticity Hyporeflexia Hypogonadism Sensory neuropathy Seizures Mental deterioration Secondary amenorrhea Hearing impairment Nystagmus Short stature Skeletal muscle atrophy Sensorineural hearing impairment Ptosis Global developmental delay Respiratory insufficiency Hypothyroidism Scoliosis Diabetes mellitus Depressivity Motor delay Dementia Gait ataxia Cerebellar atrophy Visual impairment Dysphagia Diarrhea Cerebral atrophy Dysphonia Peripheral demyelination Myalgia Proximal muscle weakness Cataract Leukoencephalopathy Ragged-red muscle fibers Abnormality of the cerebral white matter High palate Short neck Intellectual disability, mild Pes cavus Osteoporosis Polyneuropathy Ophthalmoplegia Hyperreflexia Gliosis Dysmetria Delayed puberty Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Areflexia

Rare Symptoms - Less than 30% cases


Respiratory failure Congenital cataract Rigidity Cardiomyopathy Cerebral cortical atrophy Abnormality of eye movement Elevated serum creatine phosphokinase Arrhythmia Myopathy Kyphosis Abnormal pyramidal sign Fatigue Dystonia Chorea Sensorimotor neuropathy Rhabdomyolysis Facial palsy Malar prominence Decreased serum testosterone level Acute rhabdomyolysis Gonadal dysgenesis Growth delay Failure to thrive Bilateral ptosis Constipation Intrauterine growth retardation Babinski sign Frontal bossing Ophthalmoparesis Prominent nasal bridge Prominent nose Subsarcolemmal accumulations of abnormally shaped mitochondria Multiple mitochondrial DNA deletions Cytochrome C oxidase-negative muscle fibers Mitochondrial myopathy Progressive external ophthalmoplegia Decreased testicular size Abnormality of extrapyramidal motor function Bipolar affective disorder Resting tremor Sensory axonal neuropathy EMG: myopathic abnormalities Paresthesia Decreased serum estradiol External ophthalmoplegia Micrognathia Exercise intolerance Diplopia Progressive muscle weakness Left ventricular hypertrophy Bradykinesia Increased serum lactate Abnormality of metabolism/homeostasis Parkinsonism Muscle cramps Limb muscle weakness Migraine Peripheral axonal neuropathy Axonal degeneration Macrocephaly Fever Coma Delayed speech and language development Muscular hypotonia Unsteady gait Encephalitis Infertility CNS hypomyelination Vomiting Neurodegeneration Emotional lability Muscle stiffness Developmental regression Memory impairment Lethargy Intention tremor Talipes equinovarus Leukodystrophy Generalized hypotonia Abnormality of the nervous system Abnormal facial shape Medulloblastoma Elevated hepatic transaminase Gastroesophageal reflux Acidosis Abnormality of the liver Anxiety Anorectal anomaly Pigmentary retinopathy Retinopathy Abnormality of mitochondrial metabolism Exertional dyspnea Recurrent bronchitis Hypokinesia B-cell lymphoma Difficulty climbing stairs Glucose intolerance Increased variability in muscle fiber diameter Easy fatigability Dilated cardiomyopathy Goiter Ventricular arrhythmia Cerebral visual impairment Recurrent sinopulmonary infections Frequent falls Palpitations Atrial fibrillation Lactic acidosis Hypertonia Hyperpigmented nevi Edema Recurrent infection of the gastrointestinal tract Bowel incontinence Dysphasia Decrease in T cell count B lymphocytopenia Oral-pharyngeal dysphagia Self-injurious behavior Precocious puberty Sleep apnea Progressive spasticity Abnormal autonomic nervous system physiology T-cell lymphoma Clonus Cerebral calcification Hypotension Pollakisuria Sudden cardiac death Tetraplegia Abnormal hair quantity Muscle fibrillation Diffuse demyelination of the cerebral white matter Pseudobulbar signs Microcoria Abnormality of chromosome stability Glioma Ketosis Recurrent singultus Rhabdomyosarcoma Progressive macrocephaly Large face Atrophy/Degeneration affecting the brainstem Hypersomnia Aqueductal stenosis Bulbar signs Hypothermia Megalencephaly Poor coordination Increased CSF protein Drowsiness Hyperthyroidism Testicular atrophy Facial diplegia Abnormality of neuronal migration Abnormality of the hair Lymphopenia Low anterior hairline Recurrent pneumonia Cachexia Deep philtrum Attention deficit hyperactivity disorder Cafe-au-lait spot Intellectual disability, moderate Combined immunodeficiency Hydronephrosis Retrognathia Non-midline cleft lip Long nose Sinusitis Telangiectasia Hyperactivity Convex nasal ridge Recurrent urinary tract infections Abnormality of the face Chronic diarrhea Choanal atresia Cutaneous photosensitivity Sloping forehead Otitis media Bronchiectasis Lymphoma Hemolytic anemia Cleft upper lip Anal atresia Leukemia Small for gestational age Mastoiditis Macrotia Freckling Hypomimic face Cogwheel rigidity Impaired distal proprioception Nocturia Impaired distal vibration sensation Muscle fiber necrosis Gastroparesis Dysgammaglobulinemia Parkinsonism with favorable response to dopaminergic medication Quadriceps muscle weakness Abnormality of the mitochondrion Skeletal myopathy Penoscrotal hypospadias Absent Achilles reflex Reduced ejection fraction Abnormal eyelid morphology Shoulder girdle muscle weakness Progressive ophthalmoplegia Focal white matter lesions Abnormality of the musculature Thrombocytopenia Upslanted palpebral fissure Autoimmune hemolytic anemia Recurrent respiratory infections Neuroblastoma Pneumonia Hypospadias Anal stenosis Acute leukemia Immunodeficiency Depressed nasal bridge Cleft palate Acute lymphoblastic leukemia Hearing abnormality Neoplasm Microcephaly Sleep disturbance Hyperlipidemia Nausea and vomiting Spastic diplegia Progressive peripheral neuropathy Titubation Amelogenesis imperfecta Retinal atrophy Increased circulating gonadotropin level Severe sensorineural hearing impairment Hammertoe Internuclear ophthalmoplegia Hyperkinesis Rod-cone dystrophy Cerebellar hypoplasia Decreased circulating progesterone Cessation of head growth Spastic hemiparesis Limited extraocular movements Pain Diffuse leukoencephalopathy Apathy Sensory ataxia Limb-girdle muscle weakness Insomnia Abnormality of the thyroid gland Coronary artery atherosclerosis Ventricular fibrillation Mutism Severe global developmental delay Progressive hearing impairment Bradycardia Status epilepticus Ventricular hypertrophy Brain atrophy Generalized muscle weakness Lower limb muscle weakness Rapid neurologic deterioration Primary gonadal insufficiency Downslanted palpebral fissures Photophobia Chorioretinal atrophy Progressive visual loss Retinal dystrophy Distal amyotrophy Paraplegia Spastic paraplegia Visual loss Abnormal upper motor neuron morphology Progressive leukoencephalopathy Periventricular leukomalacia Progressive gait ataxia Loss of speech Congenital nystagmus Apraxia Scanning speech Chorioretinal dystrophy Cerebral hypomyelination Paraparesis CNS demyelination Delusions Hyperventilation Progressive encephalopathy Personality changes Spastic paraparesis Spastic gait Spinocerebellar atrophy Progressive neurologic deterioration Hemiparesis Progressive cerebellar ataxia Distal muscle weakness Encephalopathy Blindness Optic atrophy Hypertelorism Alopecia Neurological speech impairment Interphalangeal joint contracture of finger Myoglobinuria Axonal loss Decreased motor nerve conduction velocity Postural tremor Long eyelashes Split hand Microcornea Genu recurvatum Small hand Camptodactyly of finger Hypoglycemia Kyphoscoliosis Microphthalmia Abnormality of the dentition Malignant hyperthermia Motor axonal neuropathy Abnormality of the skeletal system Agenesis of corpus callosum Cough Hyperlordosis EEG abnormality Osteopenia Weight loss Hyperhidrosis Hydrocephalus Abnormality of peripheral nerve conduction Hypertension Feeding difficulties Peripheral hypomyelination Upper limb postural tremor Recurrent myoglobinuria Abnormality of the cervical spine Motor polyneuropathy Ventriculomegaly Strabismus Micropenis Triangular face Myocardial infarction Fine hair Psychosis Bilateral sensorineural hearing impairment Dehydration Dental malocclusion Abnormality of movement Choreoathetosis Hypotrichosis Arthrogryposis multiplex congenita Sparse hair Protruding ear Camptodactyly High forehead Sparse scalp hair Hallucinations Progressive alopecia Abnormal T-wave Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormal spermatogenesis Anodontia Purpura Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Sparse eyebrow Progressive vitiligo



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Ichthyosis, related diseases and genetic alterations Abnormality of the skeletal system and Limb undergrowth, related diseases and genetic alterations Macrocephaly and Severe short stature, related diseases and genetic alterations Skeletal muscle atrophy and Hypoplasia of penis, related diseases and genetic alterations

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