Hyperreflexia, and Infertility

Diseases related with Hyperreflexia and Infertility

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

Top matches:

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

X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.

X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE Is also known as mental retardation and macrocephaly syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE

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

Other less relevant matches:

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

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

Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANGELMAN SYNDROME; AS

Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as ttdp|ichthyosiform erythroderma with hair abnormality and mental and growth retardation|trichothiodystrophy, photosensitive|trichothiodystrophy with congenital ichthyosis|ichthyosis, congenital, with trichothiodystrophy|pibids syndrome|tay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.

Related symptoms:

  • Skeletal muscle atrophy
  • Pes cavus
  • Distal muscle weakness
  • Infertility
  • Polyneuropathy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 46,XY GONADAL DYSGENESIS-MOTOR AND SENSORY NEUROPATHY SYNDROME

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

Top 5 symptoms//phenotypes associated to Hyperreflexia and Infertility

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Spasticity Tremor Global developmental delay Flexion contracture Delayed speech and language development Nystagmus Gait disturbance Babinski sign Seizures Abnormal cerebellum morphology Gait ataxia Dementia Hypogonadism Scoliosis Short stature Clumsiness Obesity Head tremor Pes cavus Lower limb spasticity Peripheral neuropathy Broad-based gait Paraplegia Dysphagia Hypoplasia of the corpus callosum Abnormality of the cerebral white matter Spastic paraplegia Peripheral axonal neuropathy Mental deterioration Unsteady gait Progressive cerebellar ataxia Cerebral cortical atrophy Pneumonia

Rare Symptoms - Less than 30% cases

Skeletal muscle atrophy Hyperactivity Diabetes mellitus Myoclonus Abnormal facial shape Alopecia Behavioral abnormality Neurological speech impairment Chorioretinal dystrophy Jerky ocular pursuit movements Distal amyotrophy Impaired vibration sensation in the lower limbs Abnormality of the face Ankle clonus Impaired vibratory sensation Truncal ataxia Spastic gait Corpus callosum atrophy Rigidity Anxiety Polyneuropathy Visual loss Motor delay Visual impairment Constipation Areflexia Abnormal involuntary eye movements Ichthyosis Sensory neuropathy Cerebral palsy Abnormality of movement Incoordination Hyperkinesis Postural tremor Cerebral atrophy Type II diabetes mellitus Generalized-onset seizure Abnormality of metabolism/homeostasis Falls Aggressive behavior Primary amenorrhea Urinary incontinence Macrocephaly Progeroid facial appearance Hyperactive deep tendon reflexes Intellectual disability, mild Brisk reflexes Cataract Hypertonia Microcephaly Personality changes Intellectual disability, severe Hypogonadotrophic hypogonadism Intellectual disability, profound Oligomenorrhea Photophobia Dysmetria Strabismus Lower limb muscle weakness Chorea Difficulty walking Kyphosis Memory impairment Aspiration Deeply set eye Profound global developmental delay EEG abnormality Moderate global developmental delay Gastroesophageal reflux Happy demeanor Feeding difficulties in infancy Limb tremor Inappropriate laughter Sleep-wake cycle disturbance Large foramen magnum Encephalopathy Tongue thrusting Paroxysmal bursts of laughter Mandibular prognathia Autism Anisometropia Inguinal hernia Growth delay Short attention span Microphthalmia Recurrent infections Hyperkeratosis Optic atrophy Neoplasm Astigmatism Autistic behavior Focal-onset seizure Overgrowth Postnatal microcephaly Exotropia Intellectual disability, progressive Widely spaced teeth Brachycephaly Vomiting Drooling Self-injurious behavior Flat occiput Albinism Polyphagia Absent speech Macroglossia Wide mouth Hypoplasia of the maxilla Hypopigmentation of the skin Keratoconus Atonic seizures Sleep disturbance Protruding tongue Drowsiness Overweight Status epilepticus Hypermetropia Epileptic spasms Progressive gait ataxia Blue irides Fair hair Retrognathia IgG deficiency Protruding ear Increased circulating gonadotropin level Abnormality of peripheral nerve conduction Abnormal vagina morphology Decreased serum estradiol Decreased serum testosterone level Gonadoblastoma Male hypogonadism Gonadal dysgenesis Streak ovary Decreased number of peripheral myelinated nerve fibers Hypoplasia of the uterus Steppage gait Reduced tendon reflexes Sensorimotor neuropathy Distal muscle weakness Lack of subcutaneous fatty tissue Abnormality of female external genitalia Testicular dysgenesis Abnormality of hair texture Delayed puberty Abnormal upper motor neuron morphology Scanning speech Chorioretinal atrophy Intention tremor Amenorrhea Progressive visual loss Retinal dystrophy Hyporeflexia Distal sensory loss of all modalities Minifascicle formation Abnormality of peripheral nerves Blind vagina Gonadal dysgenesis, male Abnormal peripheral myelination Gonadal dysgenesis with female appearance, male Sensory ataxic neuropathy Tiger tail banding Titubation Sparse hair Eczema Increased bone mineral density Telangiectasia Chronic diarrhea Fine hair Cutaneous photosensitivity Small nail Nail dysplasia Dysphonia Decreased antibody level in blood Asthma Microcornea Dry skin Malabsorption Nail dystrophy Small for gestational age Macular degeneration Brittle hair Trichorrhexis nodosa Keratoconjunctivitis sicca Corneal neovascularization Congenital nonbullous ichthyosiform erythroderma Pili torti Woolly hair Fragile nails Myopia Alopecia of scalp Congenital ichthyosiform erythroderma Abnormality of the thorax Freckling Decreased fertility Basal cell carcinoma Spastic diplegia Squamous cell carcinoma Intestinal obstruction Erythroderma Fever Poor coordination Feeding difficulties Brain atrophy Abnormal tendon morphology Sperm head anomaly Anemia Hypertension Ventriculomegaly Dystonia Depressivity Weight loss Arthritis Irritability Cough Abnormality of eye movement Neurodegeneration Gliosis Neuronal loss in central nervous system Abnormal sperm morphology Hypokinesia Chronic bronchitis Upper limb undergrowth Restlessness Cerebellar vermis atrophy Bronchitis Muscle fibrillation Akinesia Bradykinesia Obsessive-compulsive behavior Rheumatoid arthritis Slurred speech Schizophrenia Involuntary movements Progressive neurologic deterioration Upper limb dysmetria Impaired vibration sensation at ankles Testicular atrophy Inappropriate behavior Hypotelorism Tapered finger Long face Intellectual disability, moderate Coarse facial features Downslanted palpebral fissures Aspiration pneumonia Knee flexion contracture Loss of speech Atrophy/Degeneration affecting the brainstem Impulsivity Dysdiadochokinesis Parkinsonism Abnormality of the skeletal system Pointed chin Abnormality of the fingernails Knee clonus Abnormal pyramidal sign Reduced sperm motility Limb dysmetria Upper limb spasticity Spastic dysarthria Progressive spastic paraplegia Decreased testicular size Absent nares Holoprosencephaly Female infertility Macroorchidism Ankle contracture Long fingers Limited elbow extension Delayed gross motor development Dilated fourth ventricle Paranoia Muscular hypotonia Type I diabetes mellitus Gaze-evoked nystagmus Sensory axonal neuropathy Adducted thumb External ophthalmoplegia Pancreatitis Oculomotor apraxia Horizontal nystagmus Uveitis Limb ataxia Postural instability Arachnodactyly Ophthalmoplegia Hypothyroidism Glaucoma Colitis Retinal atrophy Long-tract signs Old-aged sensorineural hearing impairment Sensorineural hearing impairment Hypertelorism Generalized hypotonia Abnormal motor evoked potentials Abnormality of the sella turcica Parietal cortical atrophy Iridocyclitis Hand tremor Delayed menarche Saccadic smooth pursuit Speech apraxia Impaired proprioception Ulcerative colitis Hypoplasia of the pons Cerebellar hypoplasia Degeneration of the lateral corticospinal tracts Mania Blindness Nyctalopia Retinopathy Paralysis Abnormality of the nervous system Rod-cone dystrophy Syndactyly Respiratory distress Confusion Fatigue Muscle weakness Oral motor hypotonia Frequent temper tantrums Suicidal ideation Neuronal loss in basal ganglia Limb muscle weakness Tetraplegia Neurogenic bladder Urinary urgency Distal lower limb amyotrophy Taurodontia Urinary bladder sphincter dysfunction Optic neuropathy Progressive spasticity Axonal degeneration Hand polydactyly Spastic tetraplegia Growth abnormality Spastic paraparesis Paraparesis Increased body weight Clonus Decreased liver function Spinocerebellar atrophy


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