MCID: DNC004
MIFTS: 29

Diencephalic Syndrome malady

Rare diseases, Neuronal diseases, Endocrine diseases categories
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Summaries for Diencephalic Syndrome

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MalaCards based summary: Diencephalic Syndrome is related to astrocytoma and hypertension, and has symptoms including hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies, psychic/behavioural troubles and central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer. An important gene associated with Diencephalic Syndrome is LEP (leptin). Affiliated tissues include brain, hypothalamus and pituitary.

Aliases & Classifications for Diencephalic Syndrome

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Sources:
42NIH Rare Diseases, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Diencephalic Syndrome, Aliases & Descriptions:

Name: Diencephalic Syndrome 42 48 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
diencephalic syndrome:
Age of onset: Childhood


External Ids:

ICD10 via Orphanet26 C72.8
UMLS via Orphanet63 C0342436

Related Diseases for Diencephalic Syndrome

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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
3craniopharyngioma10.3
4pilomyxoid astrocytoma10.2
5gigantism10.2
6pilocytic astrocytoma10.2
7neuroaxonal dystrophy10.0
8juvenile pilocytic astrocytoma10.0
9congenital hypothyroidism10.0
10neurofibromatosis10.0
11marasmus10.0
12anorexia nervosa10.0
13hypothalamic neoplasm10.0
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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Symptoms:

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

HPO human phenotypes related to Diencephalic Syndrome:

(show all 13)
id Description Frequency HPO Source Accession
1 behavioral abnormality hallmark (90%) HP:0000708
2 abnormality of the hypothalamus-pituitary axis hallmark (90%) HP:0000864
3 decreased body weight hallmark (90%) HP:0004325
4 neoplasm of the nervous system hallmark (90%) HP:0004375
5 enlarged penis typical (50%) HP:0000040
6 everted lower lip vermilion typical (50%) HP:0000232
7 hydrocephalus typical (50%) HP:0000238
8 macrotia typical (50%) HP:0000400
9 nystagmus typical (50%) HP:0000639
10 hyperhidrosis typical (50%) HP:0000975
11 abnormality of movement typical (50%) HP:0100022
12 optic atrophy occasional (7.5%) HP:0000648
13 large hands occasional (7.5%) HP:0001176

Drugs & Therapeutics for Diencephalic Syndrome

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Drug clinical trials:

Search ClinicalTrials for Diencephalic Syndrome

Search NIH Clinical Center for Diencephalic Syndrome

Genetic Tests for Diencephalic Syndrome

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Anatomical Context for Diencephalic Syndrome

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MalaCards organs/tissues related to Diencephalic Syndrome:

32
Brain, Hypothalamus, Pituitary, Testes, Spinal cord

Animal Models for Diencephalic Syndrome or affiliated genes

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Publications for Diencephalic Syndrome

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Articles related to Diencephalic Syndrome:

(show top 50)    (show all 89)
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 secondary to intracranial astrocytoma in a dog. (7341556)
1981
23
Inappropriate growth hormone release in the diencephalic syndrome of childhood: case report and 4 year endocrinological follow-up. (7438472)
1980
24
Diencephalic syndrome and its relation to opticochiasmatic glioma: review of twelve cases. (460550)
1979
25
Increased urinary catecholamines in an infant with the diencephalic syndrome. (686781)
1978
26
Diencephalic syndrome revisited. (1245953)
1976
27
Brain scanning in the diencephalic syndrome. (4850822)
1974
28
Diencephalic syndrome. Long-term survival. (4683956)
1973
29
Diencephalic syndrome. (4778929)
1973
30
The diencephalic syndrome of emaciation. A case report. (5019153)
1972
31
The diencephalic syndrome in infants. A review in relation to optic nerve glioma. (4659145)
1972
32
Diencephalic syndrome of infantile emaciation. Analysis of literature and report of further 3 cases. (5034666)
1972
33
Paradoxical growth in a patient with the diencephalic syndrome. (5422123)
1970
34
Secretion of growth hormone in the diencephalic syndrome of childhood. (5444580)
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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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

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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

Sources for Diencephalic Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet