Ataxia-hypogonadism-choroidal dystrophy syndrome (V体育ios版)
- Synonyms
- Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary (V体育官网)
Excerpted from the GeneReview:PNPLA6 disorders span a phenotypic continuum characterized by variable combinations of cerebellar ataxia; upper motor neuron involvement manifesting as spasticity and/or brisk reflexes; chorioretinal dystrophy associated with variable degrees of reduced visual function; and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). The hypogonadotropic hypogonadism occurs either in isolation or as part of anterior hypopituitarism (growth hormone, thyroid hormone, or gonadotropin deficiencies). Common but less frequent features are peripheral neuropathy (usually of axonal type manifesting as reduced distal reflexes, diminished vibratory sensation, and/or distal muscle wasting); hair anomalies (long eyelashes, bushy eyebrows, or scalp alopecia); short stature; and impaired cognitive functioning (learning disabilities in children; deficits in attention, visuospatial abilities, and recall in adults). Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic hypogonadism, and – to a variable degree – brisk reflexes); Oliver-McFarlane syndrome (trichomegaly, chorioretinal dystrophy, short stature, intellectual disability, and hypopituitarism); Laurence-Moon syndrome; and spastic paraplegia type 39 (SPG39) (upper motor neuron involvement, peripheral neuropathy, and sometimes reduced cognitive functioning and/or cerebellar ataxia).
- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Matthis Synofzik
- Robert B Hufnagel
- Stephan Züchner
- view full author information
Available tests
20 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (20 available)
Molecular Genetics Tests
Genes See tests for all associated and related genes
Also known as: BNHS, LNMS, NTE, NTEMND, OMCS, SPG39, iPLA2delta, sws, PNPLA6
Summary: patatin like domain 6, lysophospholipase
Clinical features
Help- Abnormality of limbs (VSports app下载)
- Abnormality of the endocrine system
- Abnormality of the eye
- V体育官网入口 - Abnormality of the genitourinary system
- VSports手机版 - Abnormality of the musculoskeletal system
- VSports最新版本 - Abnormality of the nervous system
- Abnormal upper motor neuron morphology
- "VSports" Anterior pituitary hypoplasia
- Areflexia
- Ataxia
- Babinski sign
- "V体育平台登录" Cerebellar atrophy
- Dysdiadochokinesis
- Gait ataxia
- Hyperactive Achilles reflex
- Hyperactive patellar reflex
- Hyporeflexia
- Intellectual disability, mild
- Intention tremor (VSports手机版)
- Lower limb spasticity
- Photophobia
- Scanning speech
- Spasticity
- V体育ios版 - Spinocerebellar atrophy
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