Ataxia, and Delayed puberty

Diseases related with Ataxia and Delayed puberty

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


Top matches:

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 PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME


Lichtenstein-Knorr syndrome is an autosomal recessive neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. Features usually develop in childhood or young adulthood (summary by Guissart et al., 2015).

PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME Is also known as scar19|progressive autosomal recessive ataxia-sensorineural hearing loss syndrome|lichtenstein-knorr syndrome|spinocerebellar ataxia, autosomal recessive 19

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS 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

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Other less relevant matches:

Low 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

Low match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

Low match PEROXISOME BIOGENESIS DISORDER 6B; PBD6B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood. Some patients with PEX10 mutations have a milder disorder characterized by childhood-onset cerebellar ataxia and neuropathy without mental retardation (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 6B; PBD6B

Low match TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME


TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME Is also known as tach syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MENDELIAN

More info about TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME

Low match WOLFRAM-LIKE SYNDROME


Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.

WOLFRAM-LIKE SYNDROME Is also known as hearing loss, progressive, with optic atrophy and/or impaired glucose regulation

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Visual impairment
  • Peripheral neuropathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WOLFRAM-LIKE SYNDROME

Low 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 HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME


Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome is a rare, genetic, neurological disorder characterized by early-onset, progressive ataxia, white matter hypomyelination and cerebellar atrophy on brain MRI imaging, and various dental abnormalities, including hypodontia, delayed primary tooth eruption, complete retention of the primary maxillary central incisors and abnormal shape of the permanent maxillary incisors.

HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME Is also known as 4h syndrome|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition|ataxia, delayed dentition, and hypomyelination|ataxia-delayed dentition-hypomyelination

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Delayed puberty

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Spasticity Gait ataxia Cerebellar atrophy Hypogonadotrophic hypogonadism Progressive cerebellar ataxia Dysmetria Areflexia Tremor Intention tremor Primary amenorrhea Hypogonadism Global developmental delay Seizures Visual impairment Intellectual disability Amenorrhea Cognitive impairment Hypoplasia of the corpus callosum Hyporeflexia Motor delay Pes cavus Secondary amenorrhea Peripheral axonal neuropathy Optic atrophy

Rare Symptoms - Less than 30% cases


Cerebellar hypoplasia Babinski sign Abnormal upper motor neuron morphology Intellectual disability, mild Ophthalmoplegia High palate Dystonia Dysphagia Myopia Hyperreflexia Mental deterioration Abnormality of the nervous system Increased circulating gonadotropin level Cerebral cortical atrophy Sparse pubic hair Gonadal dysgenesis Distal amyotrophy Retinal dystrophy Unsteady gait Microcephaly Postural tremor Spastic paraplegia Paraplegia CNS hypomyelination Oligodontia Premature ovarian insufficiency Drooling Leukodystrophy Congenital sensorineural hearing impairment Abnormality of metabolism/homeostasis Infertility Delayed eruption of teeth Hypodontia Visual loss Dysdiadochokinesis Limb ataxia Type II diabetes mellitus Bilateral sensorineural hearing impairment Abnormality of ocular smooth pursuit Autistic behavior Psychosis Pallor Abnormality of the pinna Hallucinations Anxiety Hypothyroidism Retinopathy Autonomic bladder dysfunction Autism Glaucoma Impaired distal proprioception Vertical supranuclear gaze palsy Diabetes mellitus Dementia Schizophrenia Depressivity Myopathy Respiratory insufficiency High myoinositol in brain by MRS Positive Romberg sign Focal seizures, afebril Progressive hearing impairment Sensory neuropathy Glucose intolerance Abnormality of the dentition Severe sensorineural hearing impairment Retinal atrophy Amelogenesis imperfecta Decreased serum testosterone level Titubation Progressive peripheral neuropathy Limited extraocular movements Internuclear ophthalmoplegia Ventriculomegaly Abnormal pyramidal sign Hammertoe Abnormal cerebellum morphology Focal-onset seizure Peripheral demyelination High myopia Reduced number of teeth Focal impaired awareness seizure Natal tooth Motor deterioration Foam cells Spastic diplegia Bilateral ptosis Diabetes insipidus Primary gonadal insufficiency Abnormality of color vision Scotoma Optic neuropathy Severe vision loss Severe postnatal growth retardation Male hypogonadism Gastrointestinal dysmotility Abnormality of the upper urinary tract Central diabetes insipidus Moderate hearing impairment Hyperkinesis Scoliosis Abnormal facial shape Ptosis Talipes equinovarus Short neck Rod-cone dystrophy Osteoporosis Upper motor neuron dysfunction Polyneuropathy Sensorimotor neuropathy Abnormality of the basal ganglia Elevated hepatic transaminase Spastic dysarthria Osteoporosis of vertebrae Pulmonary fibrosis Decreased fertility Decreased serum estradiol Streak ovary Aplasia/Hypoplasia of the breasts Aplasia/hypoplasia of the uterus Abnormality of secondary sexual hair Ambiguous genitalia Cleft palate Cryptorchidism Micropenis Cleft lip Abnormality of the eye Abnormality of eye movement Facial asymmetry Reduced bone mineral density Arachnodactyly Ichthyosis Loss of ability to walk Growth delay Lower limb spasticity Hypergonadotropic hypogonadism Hypoplasia of the uterus Gait disturbance Vertigo Action tremor Skeletal muscle atrophy Osteopenia Photophobia Progressive visual loss Chorioretinal atrophy Scanning speech Chorioretinal dystrophy Spinocerebellar atrophy Delayed skeletal maturation Oral cleft Renal agenesis Impaired vibration sensation in the lower limbs Sensory impairment Leydig cell insensitivity to gonadotropin Total anosmia Generalized hypotonia Neonatal hypotonia Abnormality of the liver Abnormality of the cerebral white matter Distal sensory impairment Decreased liver function Hypothalamic gonadotropin-releasing hormone deficiency Impaired smooth pursuit Dysmetric saccades Delayed menarche Focal white matter lesions Deeply set eye Developmental regression Clumsiness Decreased circulating follicle stimulating hormone level Olfactory lobe agenesis Decreased testicular size Anodontia Hypotelorism Gynecomastia Holoprosencephaly Azoospermia Anosmia Unilateral renal agenesis Bilateral cryptorchidism Hyposmia Decreased circulating luteinizing hormone level Abnormal renal morphology Microphallus Testicular atrophy Bimanual synkinesia Bilateral renal agenesis Eunuchoid habitus Alobar holoprosencephaly Hypometric saccades



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