Ataxia, and Hypogonadism

Diseases related with Ataxia and Hypogonadism

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


Top matches:

Medium match LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11


Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Myopia


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11

Low match HYPOMYELINATION-HYPOGONADOTROPIC HYPOGONADISM-HYPODONTIA SYNDROME


Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia.

HYPOMYELINATION-HYPOGONADOTROPIC HYPOGONADISM-HYPODONTIA SYNDROME Is also known as 4h syndrome

Related symptoms:

  • Ataxia
  • Hypodontia
  • Hypergonadotropic hypogonadism
  • CNS hypomyelination


SOURCES: ORPHANET MENDELIAN

More info about HYPOMYELINATION-HYPOGONADOTROPIC HYPOGONADISM-HYPODONTIA SYNDROME

Low match ATAXIA-HYPOGONADISM-CHOROIDAL DYSTROPHY SYNDROME


Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term).

ATAXIA-HYPOGONADISM-CHOROIDAL DYSTROPHY SYNDROME Is also known as boucher-neuhÄuser syndrome

Related symptoms:

  • Ataxia
  • Hypogonadotrophic hypogonadism
  • Chorioretinal dystrophy


SOURCES: ORPHANET MENDELIAN

More info about ATAXIA-HYPOGONADISM-CHOROIDAL DYSTROPHY SYNDROME

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Other less relevant matches:

Low match POLYENDOCRINE-POLYNEUROPATHY SYNDROME


Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about POLYENDOCRINE-POLYNEUROPATHY SYNDROME

Low 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

Low match CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME


Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).

CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME Is also known as luteinizing hormone-releasing hormone deficiency with ataxia|gordon-holmes syndrome

Related symptoms:

  • Short stature
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME

Low 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

Low 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

Low match LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8


Hypomyelinating leukodystrophy-8 is an autosomal recessive neurologic disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism (summary by Tetreault et al., 2011).See also HLD7 (OMIM ), which has similar features and is caused by mutation in the POLR3A gene (OMIM ) on chromosome 10q22. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III.For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8

Low match ATAXIA-TELANGIECTASIA-LIKE DISORDER


ATAXIA-TELANGIECTASIA-LIKE DISORDER Is also known as atld

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Delayed speech and language development
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about ATAXIA-TELANGIECTASIA-LIKE DISORDER

Top 5 symptoms//phenotypes associated to Ataxia and Hypogonadism

Symptoms // Phenotype % cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hypergonadotropic hypogonadism Uncommon - Between 30% and 50% cases
Hypogonadotrophic hypogonadism Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria Pes cavus Amenorrhea Primary amenorrhea Nystagmus Hearing impairment Intellectual disability Gait ataxia CNS hypomyelination Intention tremor

Rare Symptoms - Less than 30% cases


Seizures Frequent falls Dysdiadochokinesis Dysmetria Generalized hypotonia Global developmental delay Hyporeflexia Paraplegia Spastic paraplegia Peripheral neuropathy Sensorineural hearing impairment Delayed puberty Dystonia Chorioretinal dystrophy Myopia Leukodystrophy Growth delay Tremor Hypoplasia of the corpus callosum Hypodontia Abnormality of ocular smooth pursuit Delayed eruption of teeth Falls Babinski sign Intellectual disability, mild Dysphagia Hyperreflexia Hyperactive deep tendon reflexes Small posterior fossa Positive Romberg sign Increased serum pyruvate Elevated circulating luteinizing hormone level Gonadal dysgenesis Sensory axonal neuropathy Abnormality of mitochondrial metabolism Increased serum lactate Sensory impairment Distal sensory impairment Peripheral axonal neuropathy Abnormal cerebellum morphology Oligodontia Horizontal nystagmus High palate Mask-like facies Drooling Reduced tendon reflexes Oculomotor apraxia Sensorimotor neuropathy Slow saccadic eye movements Cerebellar vermis hypoplasia Absent Achilles reflex Orofacial dyskinesia Dilated fourth ventricle Dysmetric saccades Gaze-evoked nystagmus Vertical nystagmus Chorea Joint laxity Myoclonus Delayed speech and language development Impaired horizontal smooth pursuit Delayed eruption of primary teeth Cerebral hypomyelination Motor deterioration Progressive spasticity Ophthalmoplegia Skeletal muscle atrophy Spinocerebellar atrophy Type I diabetes mellitus Muscular hypotonia Secondary amenorrhea Hypoplasia of the uterus Congenital sensorineural hearing impairment Premature ovarian insufficiency Lower limb spasticity Microcephaly Central hypothyroidism Glucose intolerance Progressive hearing impairment Polyneuropathy Behavioral abnormality Abnormal pyramidal sign Postnatal growth retardation Intellectual disability, moderate Hypoglycemia Hypothyroidism Diabetes mellitus Cerebellar hypoplasia Motor delay Abnormality of the nervous system Abnormality of the dentition Optic atrophy Clinodactyly of the 5th finger Abnormal upper motor neuron morphology Abnormality of metabolism/homeostasis Scanning speech Chorioretinal atrophy Progressive visual loss Retinal dystrophy Distal amyotrophy Unsteady gait Infertility Photophobia Areflexia Visual loss Visual impairment Dementia Cognitive impairment Abnormality of the hypothalamus-pituitary axis Decreased fertility Supernumerary nipple Hemiplegia/hemiparesis Personality changes Abnormal electroretinogram Gynecomastia Abnormality of retinal pigmentation Neurological speech impairment Brachycephaly Enlarged interhemispheric fissure



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