MCID: ICH007
MIFTS: 13

Ichthyosis and Male Hypogonadism

Aliases & Classifications for Ichthyosis and Male Hypogonadism

MalaCards integrated aliases for Ichthyosis and Male Hypogonadism:

Name: Ichthyosis and Male Hypogonadism 58

Characteristics:

OMIM:

58
Inheritance:
x-linked ( ? contiguous gene syndrome)


HPO:

33
ichthyosis and male hypogonadism:
Inheritance x-linked inheritance


Summaries for Ichthyosis and Male Hypogonadism

MalaCards based summary : Ichthyosis and Male Hypogonadism is related to hypogonadism, male and ichthyosis. Affiliated tissues include pituitary, and related phenotypes are intellectual disability and seizures

Description from OMIM: 308200

Related Diseases for Ichthyosis and Male Hypogonadism

Diseases related to Ichthyosis and Male Hypogonadism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypogonadism, male 10.0
2 ichthyosis 10.0
3 hypogonadism 10.0
4 hypogonadotropism 10.0
5 rud syndrome 10.0

Graphical network of the top 20 diseases related to Ichthyosis and Male Hypogonadism:



Diseases related to Ichthyosis and Male Hypogonadism

Symptoms & Phenotypes for Ichthyosis and Male Hypogonadism

Human phenotypes related to Ichthyosis and Male Hypogonadism:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 abnormality of metabolism/homeostasis 33 HP:0001939
4 hypogonadotrophic hypogonadism 33 HP:0000044
5 male hypogonadism 33 HP:0000026
6 rod-cone dystrophy 33 HP:0000510
7 anosmia 33 HP:0000458
8 congenital ichthyosiform erythroderma 33 HP:0007431
9 gonadotropin deficiency 33 HP:0008213
10 polyneuritis 33 HP:0031003
11 hyperchromic macrocytic anemia 33 HP:0004857

Symptoms via clinical synopsis from OMIM:

58
Neuro:
seizures
mental retardation
polyneuritis

Eyes:
retinitis pigmentosa

G U:
secondary hypogonadism

Lab:
low pituitary gonadotropic hormones

Nose:
anosmia

Skin:
congenital ichthyosis

Heme:
hyperchromic macrocytic anemia

Clinical features from OMIM:

308200

Drugs & Therapeutics for Ichthyosis and Male Hypogonadism

Search Clinical Trials , NIH Clinical Center for Ichthyosis and Male Hypogonadism

Genetic Tests for Ichthyosis and Male Hypogonadism

Anatomical Context for Ichthyosis and Male Hypogonadism

MalaCards organs/tissues related to Ichthyosis and Male Hypogonadism:

42
Pituitary

Publications for Ichthyosis and Male Hypogonadism

Articles related to Ichthyosis and Male Hypogonadism:

# Title Authors Year
1
Steroid sulphatase deficiency is present in patients with the syndrome 'ichthyosis and male hypogonadism' and with 'Rud syndrome'. ( 6434878 )
1984

Variations for Ichthyosis and Male Hypogonadism

Expression for Ichthyosis and Male Hypogonadism

Search GEO for disease gene expression data for Ichthyosis and Male Hypogonadism.

Pathways for Ichthyosis and Male Hypogonadism

GO Terms for Ichthyosis and Male Hypogonadism

Sources for Ichthyosis and Male 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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