Ataxia, and Amenorrhea

Diseases related with Ataxia and Amenorrhea

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


Top matches:

Medium match PERRAULT SYNDROME 3; PRLTS3


Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals (summary by Jenkinson et al., 2013).For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (OMIM ).

PERRAULT SYNDROME 3; PRLTS3 Is also known as dfnb81, formerly|deafness, autosomal recessive 81, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PERRAULT SYNDROME 3; PRLTS3

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

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Other less relevant matches:

Medium match PERRAULT SYNDROME 5; PRLTS5


Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about PERRAULT SYNDROME 5; PRLTS5

Medium match 46,XX GONADAL DYSGENESIS


46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.

46,XX GONADAL DYSGENESIS Is also known as xx female gonadal dysgenesis|46,xx pure gonadal dysgenesis|46,xx complete gonadal dysgenesis|follicular stimulating hormone-resistant ovaries|hypergonadotropic ovarian dysgenesis|xx-gd|46,xx ovarian dysgenesis|fsh-ro

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about 46,XX GONADAL DYSGENESIS

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

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 KALLMANN SYNDROME


Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia|olfacto-genital pathological sequence

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about KALLMANN SYNDROME

Medium match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

Low match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Amenorrhea

Symptoms // Phenotype % cases
Primary amenorrhea Common - Between 50% and 80% cases
Secondary amenorrhea Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Delayed puberty Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Spasticity Sensorineural hearing impairment Hearing impairment Peripheral neuropathy Cerebellar atrophy Premature ovarian insufficiency Short stature Pes cavus Cognitive impairment Mental deterioration Hypogonadotrophic hypogonadism Gait ataxia Cardiomyopathy Gait disturbance Gonadal dysgenesis Tremor Hyporeflexia Microcephaly Paraplegia Hypogonadism

Rare Symptoms - Less than 30% cases


Global developmental delay Unsteady gait Retinal dystrophy Osteoporosis Ptosis Diarrhea High palate Ophthalmoplegia Peripheral axonal neuropathy Increased circulating gonadotropin level Anemia Infertility Congestive heart failure Delayed skeletal maturation Osteopenia Muscular hypotonia Reduced bone mineral density Cryptorchidism Decreased fertility Muscle weakness Diabetes mellitus Arrhythmia Optic atrophy Lethargy Leukoencephalopathy Visual loss Abnormality of metabolism/homeostasis Dementia Areflexia Progressive peripheral neuropathy Abnormality of the cerebral white matter Hypergonadotropic hypogonadism Motor delay Visual impairment Polyneuropathy Spastic paraplegia Hyposmia Carcinoma Abdominal pain Elevated hepatic transaminase Arthralgia Alopecia Arthritis Dilated cardiomyopathy Skeletal dysplasia Abnormality of the liver Cirrhosis Hepatic failure Hepatic steatosis Ascites Micropenis Hepatitis Cardiomegaly Telangiectasia Hyperpigmentation of the skin Pes planus Recurrent infections Ichthyosis Anosmia Hepatic fibrosis Abnormality of female internal genitalia Abnormality of color vision Breast hypoplasia Bimanual synkinesia Dyspareunia Erectile abnormalities Abnormality of the voice Reduced number of teeth Hypothalamic gonadotropin-releasing hormone deficiency Recurrent fractures Neoplasm Pain Gynecomastia Hypoplasia of penis Hepatomegaly Fatigue Decreased testicular size Renal agenesis Splenomegaly Anterior hypopituitarism Constrictive pericarditis Insulin resistance Cardiac arrest Abnormal cardiac septum morphology Stroke Paresthesia Retinal degeneration Neutropenia Aciduria Abnormality of the skin Bilateral sensorineural hearing impairment Pancytopenia Anorexia Situs inversus totalis Hoarse voice Hypoglycemia Aminoaciduria Cone/cone-rod dystrophy Polycystic ovaries Myelodysplasia Hyperglycemia Macrocytic anemia Megaloblastic anemia Abdominal situs inversus Abnormality of the basal ganglia Sideroblastic anemia Paroxysmal atrial tachycardia Pallor Gastroesophageal reflux Azoospermia Restrictive cardiomyopathy Pleural effusion Impotence Abnormal joint morphology Arthropathy Osteomalacia Pericarditis Hepatocellular carcinoma Increased serum ferritin Increased reactive oxygen species production Acute hepatic failure Neoplasm of the liver Testicular atrophy Abnormal heart morphology Alcoholism Abnormal glucose tolerance Microvesicular hepatic steatosis Increased serum iron Cholangiocarcinoma Aceruloplasminemia Elevated transferrin saturation Ventricular septal defect Atrial septal defect Headache Thrombocytopenia Obesity Decreased circulating progesterone Abnormality of cardiovascular system morphology Streak ovary Abnormality of mitochondrial metabolism Sensory axonal neuropathy Elevated circulating luteinizing hormone level Increased serum pyruvate Positive Romberg sign Arachnodactyly Ambiguous genitalia Pulmonary fibrosis Sparse pubic hair Decreased serum estradiol Aplasia/Hypoplasia of the breasts Sensory impairment Aplasia/hypoplasia of the uterus Osteoporosis of vertebrae Abnormality of secondary sexual hair Generalized hypotonia Delayed speech and language development Hyperreflexia Fever Macrocephaly Blindness Vomiting Increased serum lactate Distal sensory impairment Encephalopathy Loss of speech Growth delay Lower limb spasticity Congenital sensorineural hearing impairment Hypoplasia of the uterus Dystonia Depressivity Neurodegeneration Apraxia Ragged-red muscle fibers Congenital nystagmus Progressive gait ataxia Spinocerebellar atrophy Periventricular leukomalacia Progressive leukoencephalopathy Skeletal muscle atrophy Photophobia Distal amyotrophy Progressive visual loss Intention tremor Chorioretinal atrophy Scanning speech Abnormal upper motor neuron morphology Chorioretinal dystrophy Cerebral atrophy Developmental regression Cleft palate Sensory neuropathy Intellectual disability Scoliosis Abnormal facial shape Talipes equinovarus Short neck Intellectual disability, mild Cerebellar hypoplasia Rod-cone dystrophy Abnormality of the nervous system Dysmetria Sensorimotor neuropathy Spastic hemiparesis Hyperkinesis Bilateral ptosis Hammertoe Spastic diplegia Severe sensorineural hearing impairment Retinal atrophy Amelogenesis imperfecta Decreased serum testosterone level Titubation Limited extraocular movements Internuclear ophthalmoplegia Cessation of head growth Rapid neurologic deterioration Distal muscle weakness Paraparesis Coma Progressive cerebellar ataxia Gliosis Memory impairment Peripheral demyelination Hemiparesis Progressive neurologic deterioration Spastic gait Leukodystrophy Muscle stiffness Spastic paraparesis Diffuse leukoencephalopathy CNS hypomyelination Encephalitis Personality changes Emotional lability Axonal degeneration Progressive encephalopathy Hyperventilation Delusions CNS demyelination Cerebral hypomyelination Primary gonadal insufficiency Thiamine-responsive megaloblastic anemia



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