Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Cerebellar Ataxia (D002524)
Parent Node: Hypogonadism (D007006)
..Starting node ..Cerebellar Ataxia and Hypogonadotropic Hypogonadism (C565870)
Child Nodes:
Sister Nodes:
..Alopecia hypogonadism extrapyramidal disorder (C537053)
..Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..Bassoe syndrome (C537661)
..Biemond syndrome type 2 (C535439)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Cantalamessa Baldini Ambrosi syndrome (C537981)
..Cardiomyopathy hypogonadism collagenoma syndrome (C535582)
..Cerebellar Ataxia and Hypergonadotropic Hypogonadism (C565308)
..Cerebellar Ataxia and Hypogonadotropic Hypogonadism (C565870)
..Chang Davidson Carlson syndrome (C538075)
..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..Chudley-Rozdilsky syndrome (C535458)
..De Sanctis-Cacchione syndrome (C535992)
..Deafness-Hypogonadism Syndrome (C564435)
..Encephalopathy, Spastic Tetraparesis, and Hypogonadism (C565722)
..Eunuchism (D005058) 2
..Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis (C565295)
..Hypergonadotropic Hypogonadism And Partial Alopecia (C567109)
..Hypogonadism and Testicular Atrophy (C567108)
..Hypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
..Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies (C564406)
..Ichthyosis and male hypogonadism (C537365)
..Idiopathic Hypogonadotropic Hypogonadism (C562785)
..Johnson neuroectodermal syndrome (C535882)
..Kallmann Syndrome (D017436) 9
..Klinefelter Syndrome (D007713)
..Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism (C567313)
..Lubinsky syndrome (C543092)
..Malouf syndrome (C535703)
..Martsolf syndrome (C536028)
..MEHMO syndrome (C537451)
..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..Mineralocorticoid Deficiency, Isolated (C567596)
..Moebius axonal neuropathy hypogonadism (C535806)
..MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM (OMIM:300845)
..Muscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
..Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..Richards-Rundle syndrome (C535674)
..Rud Syndrome (C535878)
..Scholte syndrome (C536638)
..Seemanova Lesny syndrome (C537536)
..Sexual Infantilism (D050035)
..Slti Salem syndrome (C536673)
..Vasquez Hurst Sotos syndrome (C536533)
..Warburg Sjo Fledelius syndrome (C536681)
..Weinstein Kliman Scully syndrome (C536688)
..Woodhouse Sakati syndrome (C536742)
..Young Hughes syndrome (C536715)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1915

Name:

Cerebellar Ataxia and Hypogonadotropic Hypogonadism

Definition:

Alternative IDs:

ParentIDs:

MESH:D002524|MESH:D007006

TreeNumbers:

C10.228.140.252.190/C565870 |C10.597.350.090.500/C565870 |C19.391.482/C565870 |C23.888.592.350.090.200/C565870

Synonyms:

Gordon Holmes Syndrome |LHRH Deficiency and Ataxia |Luteinizing Hormone-Releasing Hormone, Deficiency of, with Ataxia

Slim Mappings:

Endocrine system disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C565870
MeSH: C565870
OMIM: 212840;

Genes: RNF216;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001939	Abnormality of metabolism/homeostasis
3	HP:0000924	Abnormality of the skeletal system
4	HP:0001251	Ataxia
5	HP:0001272	Cerebellar atrophy
6	HP:0002059	Cerebral atrophy
7	HP:0001135	Chorioretinal dystrophy
8	HP:0000726	Dementia
9	HP:0001260	Dysarthria
10	HP:0000044	Hypogonadotropic hypogonadism
11	HP:0000789	Infertility
12	HP:0000876	Oligomenorrhea	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_207111.3(RNF216):c.2251C>T (p.Arg751Cys)	54476	RNF216	Pathogenic	387907368	RCV000043627;	N	MedGen:C1859305,OMIM:212840	7	5680916	5680916	NM_207111.3:c.2251C>T	NP_996994.1:p.Arg751Cys	NC_000007.13:g.5680916G>A	OMIM Allelic Variant:609948.0001	C1859305 212840 Cerebellar ataxia and hypogonadotropic hypogonadism
NM_207111.3(RNF216):c.1791T>A (p.Cys597Ter)	54476	RNF216	Pathogenic	387907369	RCV000043628;	N	MedGen:C1859305,OMIM:212840	7	5754726	5754726	NM_207111.3:c.1791T>A	NP_996994.1:p.Cys597Ter	NC_000007.13:g.5754726A>T	OMIM Allelic Variant:609948.0002	C1859305 212840 Cerebellar ataxia and hypogonadotropic hypogonadism
NM_207111.3(RNF216):c.1616A>G (p.Tyr539Cys)	54476	RNF216	Pathogenic	148642312	RCV000180795;	N	MedGen:C1859305,OMIM:212840	7	5760692	5760692	NM_207111.3:c.1616A>G	NP_996994.1:p.Tyr539Cys	NC_000007.13:g.5760692T>C	OMIM Allelic Variant:609948.0006	C1859305 212840 Cerebellar ataxia and hypogonadotropic hypogonadism
NM_207111.3(RNF216):c.1367G>A (p.Gly456Glu)	54476	RNF216	Pathogenic	794728000	RCV000180793;	N	MedGen:C1859305,OMIM:212840	7	5769085	5769085	NM_207111.3:c.1367G>A	NP_996994.1:p.Gly456Glu	NC_000007.13:g.5769085C>T	OMIM Allelic Variant:609948.0004	C1859305 212840 Cerebellar ataxia and hypogonadotropic hypogonadism
NM_207111.3(RNF216):c.904C>T (p.Gln302Ter)	54476	RNF216	Pathogenic	373785974	RCV000180794;	N	MedGen:C1859305,OMIM:212840	7	5780744	5780744	NM_207111.3:c.904C>T	NP_996994.1:p.Gln302Ter	NC_000007.13:g.5780744G>A	OMIM Allelic Variant:609948.0005	C1859305 212840 Cerebellar ataxia and hypogonadotropic hypogonadism
NM_207111.3(RNF216):c.615_616delGA (p.Glu205Aspfs)	54476	RNF216	Pathogenic	387907370	RCV000043629;	N	MedGen:C1859305,OMIM:212840	7	5781032	5781033	NM_207111.3:c.615_616delGA	NP_996994.1:p.Glu205Aspfs	NC_000007.13:g.5781032_5781033delTC	OMIM Allelic Variant:609948.0003	C1859305 212840 Cerebellar ataxia and hypogonadotropic hypogonadism