MCID: DNC004
MIFTS: 29

Diencephalic Syndrome malady

Rare diseases, Neuronal diseases, Endocrine diseases categories

Summaries for Diencephalic Syndrome

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34MalaCards
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MalaCards: Diencephalic Syndrome is related to astrocytoma and hypertension, 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 brain, pituitary and hypothalamus.

Aliases & Classifications for Diencephalic Syndrome

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44NIH Rare Diseases, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
diencephalic syndrome:
Age of onset: Childhood


Aliases & Descriptions:

diencephalic syndrome 44 50 63


External Ids:

ICD10 via Orphanet27 C72.8
SNOMED-CT via Orphanet60 237733001
UMLS via Orphanet64 C0342436

Related Diseases for Diencephalic Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Diencephalic Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1astrocytoma10.4
2hypertension10.3
3pilomyxoid astrocytoma10.2
4craniopharyngioma10.2
5gigantism10.2
6pilocytic astrocytoma10.2
7neurofibromatosis10.0
8juvenile pilocytic astrocytoma10.0
9neuroaxonal dystrophy10.0
10anorexia nervosa10.0
11congenital hypothyroidism10.0
12hypothalamic neoplasm10.0
13marasmus10.0
14cervicitis10.0
15hyperpituitarism10.0
16hypothyroidism10.0
17lipodystrophy10.0
18optic nerve glioma10.0
19optic pathway glioma10.0
20precocious puberty10.0
21germ cell tumors10.0
22spasmus nutans10.0

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



Diseases related to diencephalic syndrome

Symptoms for Diencephalic Syndrome

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50Orphanet
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Symptoms:

50 (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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Diencephalic Syndrome

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Anatomical Context for Diencephalic Syndrome

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34MalaCards
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MalaCards organs/tissues related to Diencephalic Syndrome:

34
Brain, Pituitary, Hypothalamus, Testes, Spinal cord

Animal Models for Diencephalic Syndrome or affiliated genes

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Publications for Diencephalic Syndrome

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53PubMed
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Articles related to Diencephalic Syndrome:

(show top 50)    (show all 88)
idTitleAuthorsYear
1
The role of leptin in diencephalic syndrome. (24366994)
2014
2
Diencephalic syndrome as sign of tumor progression in a child with neurofibromatosis type 1 and optic pathway glioma: a case report. (23615855)
2013
3
Diencephalic syndrome due to astrocytoma in three infants with failure to thrive. (21955018)
2011
4
Improvement of diencephalic syndrome after partial surgery of optic chiasm glioma. (19489055)
2009
5
Diencephalic syndrome: a frequently delayed diagnosis in failure to thrive. (17405074)
2007
6
Diencephalic syndrome due to hypothalamic tumor: a model of the relationship between weight and puberty onset. (16621905)
2006
7
Malignant transformation of a chiasmatic pilocytic astrocytoma in a patient with diencephalic syndrome. (12612823)
2003
8
Diencephalic syndrome of emaciation in an adult associated with a third ventricle intrinsic craniopharyngioma: case report. (12493122)
2003
9
Treatment of diencephalic syndrome with chemotherapy: growth, tumor response, and long term control. (9655307)
1998
10
Vein of Galen malformation with diencephalic syndrome: a clinical pathologic report. (9853653)
1998
11
Diencephalic syndrome: clinical features and imaging findings. (9296191)
1997
12
Successful chemotherapeutic treatment of diencephalic syndrome with continued tumor presence. (10897816)
1996
13
Hypothalamic tumor associated with atypical forms of anorexia nervosa and diencephalic syndrome. (8274094)
1993
14
Increased energy expenditure in a patient with diencephalic syndrome. (8501572)
1993
15
Diencephalic syndrome with long-term survival. (1811904)
1991
16
Diencephalic syndrome of emaciation in an adult associated with a suprasellar craniopharyngioma--a case report. (2334532)
1990
17
Paramedian diencephalic syndrome. Report of 3 cases. (2266088)
1990
18
Chemotherapeutic treatment of the diencephalic syndrome. A case report. (2702579)
1989
19
Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome. (2986047)
1985
20
Spasmus nutans as a presenting sign of diencephalic syndrome. (4032143)
1985
21
Hypothalamic polar spongioblastoma associated with the diencephalic syndrome. Ultrastructural demonstration of a neuro-endocrine organization. (6426152)
1984
22
Diencephalic syndrome of emaciation (Russell's syndrome). (6803375)
1982
23
Diencephalic syndrome secondary to intracranial astrocytoma in a dog. (7341556)
1981
24
Inappropriate growth hormone release in the diencephalic syndrome of childhood: case report and 4 year endocrinological follow-up. (7438472)
1980
25
Diencephalic syndrome and its relation to opticochiasmatic glioma: review of twelve cases. (460550)
1979
26
Increased urinary catecholamines in an infant with the diencephalic syndrome. (686781)
1978
27
Diencephalic syndrome revisited. (1245953)
1976
28
Brain scanning in the diencephalic syndrome. (4850822)
1974
29
Diencephalic syndrome. Long-term survival. (4683956)
1973
30
Diencephalic syndrome. (4778929)
1973
31
The diencephalic syndrome of emaciation. A case report. (5019153)
1972
32
The diencephalic syndrome in infants. A review in relation to optic nerve glioma. (4659145)
1972
33
Diencephalic syndrome of infantile emaciation. Analysis of literature and report of further 3 cases. (5034666)
1972
34
Paradoxical growth in a patient with the diencephalic syndrome. (5422123)
1970
35
Diencephalic syndrome. Two case reports. (5243852)
1968
36
Diencephalic syndrome of emaciation: a case report with special reference to the mechanism of hypothalamic dysfunction. (4299901)
1968
37
Nevus unius lateralis, brain tumor, and diencephalic syndrome. (5297879)
1967
38
The diencephalic syndrome. (6059326)
1967
39
Marasmus and the diencephalic syndrome. (5905075)
1966
40
Diencephalic syndrome of emaciation. A caase report. (5294758)
1965
41
Failure to thrive: the diencephalic syndrome of infancy and childhood. (5294539)
1965
42
DIENCEPHALIC SYNDROME OF INFANCY PRESENTING WITH ANOREXIA AND EMACIATION: REPORT OF CASE. (14280553)
1965
43
The diencephalic syndrome of infancy: report of two cases. (5844118)
1965
44
DIENCEPHALIC SYNDROME OF EARLY INFANCY--CASE REPORT. (14171398)
1964
45
Diencephalic syndrome of emaciation. Report of a case. (14010511)
1963
46
Congenital hyperpituitarism of hypothalamic origin: a new diencephalic syndrome with endocrine manifestations. (14444640)
1959
47
A diencephalic syndrome of early infancy. (13482562)
1957
48
Abdominal epilepsy; diencephalic syndrome, pseudotabes, pupillary anomalies, alterations of reflexes, severe visceral algias, morbid hunger, and juvenile arterial hypertension; observation of a familial picture of five individuals. (13248674)
1954
49
The hypertensive diencephalic syndrome (Page). (18879068)
1948
50
A test for the presence of the hypertensive diencephalic syndrome using histamine. (18890054)
1948

Variations for Diencephalic Syndrome

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Expression for genes affiliated with Diencephalic Syndrome

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Diencephalic Syndrome

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Pathways for genes affiliated with Diencephalic Syndrome

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Compounds for genes affiliated with Diencephalic Syndrome

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GO Terms for genes affiliated with Diencephalic Syndrome

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Products for genes affiliated with Diencephalic Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Diencephalic Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet