MCID: HYD021
MIFTS: 18

Hydrocephalus Obesity Hypogonadism

Categories: Endocrine diseases, Fetal diseases, Metabolic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hydrocephalus Obesity Hypogonadism

MalaCards integrated aliases for Hydrocephalus Obesity Hypogonadism:

Name: Hydrocephalus Obesity Hypogonadism 52
Congenital Hydrocephalus Oligophrenia Dwarfism Centripetal Obesity and Hypogonadism 52
Hydrocephalus-Obesity-Hypogonadism Syndrome 58
Sengers-Hamel-Otten Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
hydrocephalus-obesity-hypogonadism syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Hydrocephalus Obesity Hypogonadism

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2183 Definition This syndrome is characterized by the association of congenital hydrocephalus , centripetal obesity, hypogonadism , intellectual deficit and short stature . Epidemiology It has been described in two males from one family. Genetic counseling An X-linked recessive mode of inheritance was suggested. Visit the Orphanet disease page for more resources.

MalaCards based summary : Hydrocephalus Obesity Hypogonadism, also known as congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism, is related to hydrocephalus and hypogonadism. Affiliated tissues include hypothalamus and pituitary, and related phenotypes are short neck and obesity

Related Diseases for Hydrocephalus Obesity Hypogonadism

Diseases related to Hydrocephalus Obesity Hypogonadism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hydrocephalus 10.5
2 hypogonadism 10.5
3 hypogonadotropism 10.5
4 congenital hydrocephalus 10.5
5 dwarfism 10.5

Graphical network of the top 20 diseases related to Hydrocephalus Obesity Hypogonadism:



Diseases related to Hydrocephalus Obesity Hypogonadism

Symptoms & Phenotypes for Hydrocephalus Obesity Hypogonadism

Human phenotypes related to Hydrocephalus Obesity Hypogonadism:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 obligate (100%) Obligate (100%) HP:0000470
2 obesity 58 31 obligate (100%) Obligate (100%) HP:0001513
3 hydrocephalus 58 31 obligate (100%) Obligate (100%) HP:0000238
4 short stature 58 31 obligate (100%) Obligate (100%) HP:0004322
5 intellectual disability, mild 58 31 obligate (100%) Obligate (100%) HP:0001256
6 high, narrow palate 58 31 obligate (100%) Obligate (100%) HP:0002705
7 cubitus valgus 58 31 obligate (100%) Obligate (100%) HP:0002967
8 low posterior hairline 58 31 obligate (100%) Obligate (100%) HP:0002162
9 short 4th metacarpal 58 31 obligate (100%) Obligate (100%) HP:0010044
10 mitral valve prolapse 58 31 obligate (100%) Obligate (100%) HP:0001634
11 hypergonadotropic hypogonadism 58 31 obligate (100%) Obligate (100%) HP:0000815
12 gynecomastia 58 31 obligate (100%) Obligate (100%) HP:0000771
13 azoospermia 58 31 frequent (33%) Frequent (79-30%) HP:0000027
14 abnormality of the hypothalamus-pituitary axis 58 31 frequent (33%) Frequent (79-30%) HP:0000864
15 sparse facial hair 58 31 frequent (33%) Frequent (79-30%) HP:0007464
16 absent facial hair 58 31 frequent (33%) Frequent (79-30%) HP:0002550

Drugs & Therapeutics for Hydrocephalus Obesity Hypogonadism

Search Clinical Trials , NIH Clinical Center for Hydrocephalus Obesity Hypogonadism

Genetic Tests for Hydrocephalus Obesity Hypogonadism

Anatomical Context for Hydrocephalus Obesity Hypogonadism

MalaCards organs/tissues related to Hydrocephalus Obesity Hypogonadism:

40
Hypothalamus, Pituitary

Publications for Hydrocephalus Obesity Hypogonadism

Articles related to Hydrocephalus Obesity Hypogonadism:

# Title Authors PMID Year
1
[Congenital hydrocephalus, oligophrenia, dwarfism, centripetal obesity and hypogonadism; an X-linked recessive hereditary illness?]. 61
4039476 1985

Variations for Hydrocephalus Obesity Hypogonadism

Expression for Hydrocephalus Obesity Hypogonadism

Search GEO for disease gene expression data for Hydrocephalus Obesity Hypogonadism.

Pathways for Hydrocephalus Obesity Hypogonadism

GO Terms for Hydrocephalus Obesity Hypogonadism

Sources for Hydrocephalus Obesity Hypogonadism

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
Content
Loading form....