MCID: DNC004
MIFTS: 20

Diencephalic Syndrome malady

Neuronal diseases, Endocrine diseases categories

Summaries for Diencephalic Syndrome

About this section
Sources:
32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Diencephalic Syndrome is related to diencephalic astrocytomas and astrocytoma, and has symptoms including large hand, optic nerve anomaly/optic atrophy/anomaly of the papilla and movement disorder. An important gene associated with Diencephalic Syndrome is LEP (leptin). Affiliated tissues include pituitary, hypothalamus and brain.

Aliases & Classifications for Diencephalic Syndrome

About this section
Sources:
42NIH Rare Diseases, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
diencephalic syndrome:
Age of onset: Childhood


Aliases & Descriptions:

diencephalic syndrome 42 48 60


External Ids:

ICD10 via Orphanet26 C72.8
SNOMED-CT via Orphanet57 237733001
UMLS via Orphanet61 C0342436

Related Diseases for Diencephalic Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Diencephalic Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 21)
idRelated DiseaseScoreTop Affiliating Genes
1diencephalic astrocytomas10.4
2astrocytoma10.4
3hypertension10.3
4image syndrome10.2
5pilomyxoid astrocytoma10.1
6craniopharyngioma10.1
7epilepsy syndrome10.1
8neurofibromatosis10.0
9congenital hypothyroidism10.0
10hypothalamic neoplasm10.0
11neuroaxonal dystrophy10.0
12juvenile pilocytic astrocytoma10.0
13anorexia nervosa10.0
14marasmus10.0
15juvenile astrocytoma10.0
16diencephalic neoplasm10.0
17hyperpituitarism10.0
18hypothyroidism10.0
19lipodystrophy10.0
20optic nerve glioma10.0
21reflex epilepsy10.0

Graphical network of the top 20 diseases related to Diencephalic Syndrome:



Diseases related to diencephalic syndrome

Clinical Features for Diencephalic Syndrome

About this section
Sources:
48Orphanet
See all sources


Symptoms:

48 (show all 14)
  • large hand
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • movement disorder
  • hydrocephaly
  • macropenis/megapenis/large penis
  • hyperhidrosis/increased sweating
  • long/large ear
  • protruding lips
  • nystagmus
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • psychic/behavioural troubles
  • hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies

Drugs & Therapeutics for Diencephalic Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Diencephalic Syndrome

Drug clinical trials:

Search ClinicalTrials for Diencephalic Syndrome

Search NIH Clinical Center for Diencephalic Syndrome

Search CenterWatch for Diencephalic Syndrome

Genetic Tests for Diencephalic Syndrome

About this section

Anatomical Context for Diencephalic Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Diencephalic Syndrome:

32
Pituitary, Hypothalamus, Brain

Animal Models for Diencephalic Syndrome or affiliated genes

About this section

Publications for Diencephalic Syndrome

About this section

Genetic Variations for Diencephalic Syndrome

About this section

Expression for genes affiliated with Diencephalic Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Diencephalic Syndrome

Search GEO for disease gene expression data for Diencephalic Syndrome.

Pathways for genes affiliated with Diencephalic Syndrome

About this section

Compounds for genes affiliated with Diencephalic Syndrome

About this section

GO Terms for genes affiliated with Diencephalic Syndrome

About this section

Products for genes affiliated with Diencephalic Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Diencephalic Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet