MCID: HYD021
MIFTS: 16

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 54
Congenital Hydrocephalus Oligophrenia Dwarfism Centripetal Obesity and Hypogonadism 54
Hydrocephalus-Obesity-Hypogonadism Syndrome 60
Sengers-Hamel-Otten Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
hydrocephalus-obesity-hypogonadism syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Hydrocephalus Obesity Hypogonadism

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2183Disease definitionThis syndrome is characterized by the association of congenitalhydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.EpidemiologyIt has been described in two males from one family.Genetic counselingAn X-linked recessive mode of inheritance was suggested.Visit the Orphanet disease page for more resources.

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

Related Diseases for Hydrocephalus Obesity Hypogonadism

Symptoms & Phenotypes for Hydrocephalus Obesity Hypogonadism

Human phenotypes related to Hydrocephalus Obesity Hypogonadism:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 obligate (100%) Obligate (100%) HP:0000470
2 obesity 60 33 obligate (100%) Obligate (100%) HP:0001513
3 hydrocephalus 60 33 obligate (100%) Obligate (100%) HP:0000238
4 short stature 60 33 obligate (100%) Obligate (100%) HP:0004322
5 intellectual disability, mild 60 33 obligate (100%) Obligate (100%) HP:0001256
6 cubitus valgus 60 33 obligate (100%) Obligate (100%) HP:0002967
7 low posterior hairline 60 33 obligate (100%) Obligate (100%) HP:0002162
8 high, narrow palate 60 33 obligate (100%) Obligate (100%) HP:0002705
9 short 4th metacarpal 60 33 obligate (100%) Obligate (100%) HP:0010044
10 mitral valve prolapse 60 33 obligate (100%) Obligate (100%) HP:0001634
11 hypergonadotropic hypogonadism 60 33 obligate (100%) Obligate (100%) HP:0000815
12 gynecomastia 60 33 obligate (100%) Obligate (100%) HP:0000771
13 azoospermia 60 33 frequent (33%) Frequent (79-30%) HP:0000027
14 abnormality of the hypothalamus-pituitary axis 60 33 frequent (33%) Frequent (79-30%) HP:0000864
15 sparse facial hair 60 33 frequent (33%) Frequent (79-30%) HP:0007464
16 absent facial hair 60 33 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:

42
Pituitary, Hypothalamus

Publications for Hydrocephalus Obesity Hypogonadism

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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