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).



Input patient's signs and symptoms


Narrow down the case reports



Total: 4 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(5.0%)		 30555943
 Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants - A diagnostic challenge.
Salgado P, Carvalho R, Brandao AF, Jorge P, Ramos C, Dias D, Alonso I, Magalhaes M.
eNeurologicalSci. 2019;14:9-12.
Hypogonadism
c|SUB|C|4081|T;RS#:370033046 c|SUB|G|2404|C
1
(5.0%)		 28972031
 Gordon Holmes syndrome: finally genotype meets phenotype.
Mehmood S, Hoggard N, Hadjivassiliou M.
Pract Neurol. 2017;17(6):476-478.
Hypogonadism
Cerebellar Ataxia Genotype Homo sapiens Hypogonadism Male Phenotype Young Adult
1
(5.0%)		 25033069
 Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.
Topaloglu AK, Lomniczi A, Kretzschmar D, Dissen GA, Kotan LD, McArdle CA, Koc AF, Hamel BC, Guclu M, Papatya ED, Eren E, Mengen E, Gurbuz F, Cook M, Castellano JM, Kekil MB, Mungan NO, Yuksel B, Ojeda SR.
J Clin Endocrinol Metab. 2014;99(10):E2067-75.
Hypogonadism
LHB PNPLA6
rs587777853 rs587777854
Carboxylic Ester Hydrolases Cerebellar Ataxia Delayed Puberty Females Homeostasis Homo sapiens Hypogonadism Male Middle Aged Nerve Degeneration Phospholipase
1
(5.0%)		 11932290
 Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred.
Seminara SB, Acierno JS Jr, Abdulwahid NA, Crowley WF Jr, Margolin DH.
J Clin Endocrinol Metab. 2002;87(4):1607-12.
Hypogonadism
rs148857745 rs387907368
Adult Cerebellar Ataxia Child Endocrine Glands Females Gonadotropins Haplotypes Homo sapiens Hypogonadism Male Phenotype
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0000044 Hypogonadotrophic hypogonadism Very frequent (99-80%)
HP:0000135 Hypogonadism Very frequent (99-80%)
HP:0000144 Decreased fertility Very frequent (99-80%)
HP:0000512 Abnormal electroretinogram Very frequent (99-80%)
HP:0000639 Nystagmus Very frequent (99-80%)
HP:0000648 Optic atrophy Very frequent (99-80%)
HP:0000771 Gynecomastia Very frequent (99-80%)
HP:0000864 Abnormality of the hypothalamus-pituitary axis Very frequent (99-80%)
HP:0001251 Ataxia Very frequent (99-80%)
HP:0002167 Neurological speech impairment Very frequent (99-80%)
HP:0007703 Abnormality of retinal pigmentation Very frequent (99-80%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0004374 Hemiplegia/hemiparesis Frequent (79-30%)
HP:0000248 Brachycephaly Occasional (29-5%)
HP:0000708 Behavioral abnormality Occasional (29-5%)
HP:0000726 Dementia Occasional (29-5%)
HP:0000751 Personality changes Occasional (29-5%)
HP:0002558 Supernumerary nipple Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0000135 Hypogonadism 3
HP:0001251 Ataxia 3


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
PNPLA6 patatin like phospholipase domain containing 6 10908
RNF216 ring finger protein 216 54476