MCID: HYP683
MIFTS: 25

Hypogonadism-Cataract Syndrome

Categories: Endocrine diseases, Eye diseases, Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hypogonadism-Cataract Syndrome

MalaCards integrated aliases for Hypogonadism-Cataract Syndrome:

Name: Hypogonadism-Cataract Syndrome 56 71
Cataracts and Testicular Failure 56 52
Lubinsky Syndrome 52 58
Hypergonadotropic Hypogonadism-Cataract Syndrome 58
Amelogenesis Imperfecta Nephrocalcinosis 71
Hypogonadism Cataract Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
hypergonadotropic hypogonadism-cataract syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hypogonadism-cataract syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare infertility disorders
Rare endocrine diseases


External Ids:

OMIM 56 240950
ICD10 via Orphanet 33 E29.1
UMLS via Orphanet 72 C1855859
Orphanet 58 ORPHA2410
MedGen 41 C1855859
UMLS 71 C1855859 C2931783

Summaries for Hypogonadism-Cataract Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2410 Definition This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. Genetic counseling An autosomal recessive mode of transmission appears likely. Visit the Orphanet disease page for more resources.

MalaCards based summary : Hypogonadism-Cataract Syndrome, also known as cataracts and testicular failure, is related to keppen-lubinsky syndrome and brachycephaly, deafness, cataract, microstomia, and mental retardation, and has symptoms including polyuria Affiliated tissues include eye and bone, and related phenotypes are cataract and hypergonadotropic hypogonadism

More information from OMIM: 240950

Related Diseases for Hypogonadism-Cataract Syndrome

Graphical network of the top 20 diseases related to Hypogonadism-Cataract Syndrome:



Diseases related to Hypogonadism-Cataract Syndrome

Symptoms & Phenotypes for Hypogonadism-Cataract Syndrome

Human phenotypes related to Hypogonadism-Cataract Syndrome:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 obligate (100%) Obligate (100%) HP:0000518
2 hypergonadotropic hypogonadism 58 31 obligate (100%) Obligate (100%) HP:0000815
3 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
4 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
5 increased circulating gonadotropin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0000837
6 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
7 primary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000786
8 decreased fertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000144
9 absence of secondary sex characteristics 58 31 hallmark (90%) Very frequent (99-80%) HP:0008187
10 secondary growth hormone deficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008240
11 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
12 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
13 reduced bone mineral density 58 Frequent (79-30%)
14 infertility 31 HP:0000789
15 hypogonadism 31 HP:0000135
16 male hypogonadism 31 HP:0000026
17 elevated circulating follicle stimulating hormone level 31 HP:0008232

Symptoms via clinical synopsis from OMIM:

56
G U:
infertility
hypogonadism
testicular failure

Lab:
elevated follicle-stimulating hormone (fsh) levels

Eyes:
cataracts

Clinical features from OMIM:

240950

UMLS symptoms related to Hypogonadism-Cataract Syndrome:


polyuria

Drugs & Therapeutics for Hypogonadism-Cataract Syndrome

Search Clinical Trials , NIH Clinical Center for Hypogonadism-Cataract Syndrome

Genetic Tests for Hypogonadism-Cataract Syndrome

Anatomical Context for Hypogonadism-Cataract Syndrome

MalaCards organs/tissues related to Hypogonadism-Cataract Syndrome:

40
Eye, Bone

Publications for Hypogonadism-Cataract Syndrome

Articles related to Hypogonadism-Cataract Syndrome:

(show all 13)
# Title Authors PMID Year
1
Cataracts and testicular failure in three brothers. 56
6418006 1983
2
"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes. 61
32560786 2020
3
Association of enamel-renal syndrome with sialolith: A rare entity. 61
30967741 2019
4
Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype. 61
29852244 2018
5
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6. 61
25620207 2015
6
Enamel renal syndrome: a rare case report. 61
22918105 2012
7
Fine-Lubinsky syndrome: managing the rare syndromic synostosis. 61
19251507 2010
8
Keppen-Lubinsky syndrome: Expanding the phenotype. 61
19610118 2009
9
Further clinical delineation of Fine-Lubinsky syndrome. 61
19396831 2009
10
Fetal manifestation of the Fine-Lubinsky syndrome. Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios. 61
18417983 2008
11
Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance. 61
17394214 2007
12
A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis. 61
12072800 2002
13
Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation. 61
8867660 1996

Variations for Hypogonadism-Cataract Syndrome

Expression for Hypogonadism-Cataract Syndrome

Search GEO for disease gene expression data for Hypogonadism-Cataract Syndrome.

Pathways for Hypogonadism-Cataract Syndrome

GO Terms for Hypogonadism-Cataract Syndrome

Sources for Hypogonadism-Cataract Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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