MCID: ICH007
MIFTS: 12

Ichthyosis and Male Hypogonadism

Aliases & Classifications for Ichthyosis and Male Hypogonadism

MalaCards integrated aliases for Ichthyosis and Male Hypogonadism:

Name: Ichthyosis and Male Hypogonadism 57

Characteristics:

OMIM:

57
Inheritance:
x-linked ( ? contiguous gene syndrome)


HPO:

32
ichthyosis and male hypogonadism:
Inheritance x-linked inheritance


External Ids:

OMIM 57 308200
MedGen 42 C1839989

Summaries for Ichthyosis and Male Hypogonadism

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

More information 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, x-linked 10.0
3 ichthyosis 10.0
4 hypogonadism 10.0
5 hypogonadotropism 10.0
6 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:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 abnormality of metabolism/homeostasis 32 HP:0001939
4 hypogonadotrophic hypogonadism 32 HP:0000044
5 male hypogonadism 32 HP:0000026
6 anosmia 32 HP:0000458
7 rod-cone dystrophy 32 HP:0000510
8 gonadotropin deficiency 32 HP:0008213
9 congenital ichthyosiform erythroderma 32 HP:0007431
10 polyneuritis 32 HP:0031003
11 hyperchromic macrocytic anemia 32 HP:0004857

Symptoms via clinical synopsis from OMIM:

57
Neuro:
seizures
polyneuritis
mental retardation

Heme:
hyperchromic macrocytic anemia

Skin:
congenital ichthyosis

Lab:
low pituitary gonadotropic hormones

Nose:
anosmia

Eyes:
retinitis pigmentosa

G U:
secondary hypogonadism

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:

41
Pituitary

Publications for Ichthyosis and Male Hypogonadism

Articles related to Ichthyosis and Male Hypogonadism:

# Title Authors PMID Year
1
Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature. 8
6580169 1983
2
X-linked ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation in two siblings. 8
4250 1976
3
X-linked syndrome of congenital ichthyosis, hypogonadism, mental retardation and anosmia. 8
182300 1976
4
Secondary male hypogonadism and congenital ichthyosis: association of two rare genetic diseases. 8
13764559 1960
5
Steroid sulphatase deficiency is present in patients with the syndrome 'ichthyosis and male hypogonadism' and with 'Rud syndrome'. 38
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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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