MCID: DNC004
MIFTS: 26

Diencephalic Syndrome malady

Rare diseases, Neuronal diseases, Endocrine diseases categories

Aliases & Classifications for Diencephalic Syndrome

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Sources:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Diencephalic Syndrome, Aliases & Descriptions:

Name: Diencephalic Syndrome 41 47 60


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
diencephalic syndrome:
Age of onset: Childhood


External Ids:

Orphanet47 1672
ICD10 via Orphanet26 C72.8
UMLS via Orphanet61 C0342436

Summaries for Diencephalic Syndrome

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MalaCards based summary: Diencephalic Syndrome is related to astrocytoma and pilomyxoid astrocytoma, and has symptoms including behavioral abnormality, abnormality of the hypothalamus-pituitary axis and decreased body weight. An important gene associated with Diencephalic Syndrome is LEP (leptin). Affiliated tissues include brain, hypothalamus and pituitary.

Related Diseases for Diencephalic Syndrome

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

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1astrocytoma10.5
2pilomyxoid astrocytoma10.3
3craniopharyngioma10.3
4gigantism10.2
5pilocytic astrocytoma10.2
6split cord malformation10.2
7anorexia nervosa10.0
8neurofibromatosis, type 110.0
9juvenile pilocytic astrocytoma10.0
10neurofibromatosis10.0
11neuroaxonal dystrophy10.0
12congenital hypothyroidism10.0
13hypothalamic neoplasm10.0
14marasmus10.0
15cervicitis10.0
16hyperpituitarism10.0
17hypothyroidism10.0
18lipodystrophy10.0
19optic nerve glioma10.0
20optic pathway glioma10.0
21precocious puberty10.0
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:

 47 (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:

31
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 92)
idTitleAuthorsYear
1
Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants. (25729396)
2015
2
The role of leptin in diencephalic syndrome. (24366994)
2014
3
Pilomyxoid astrocytoma presenting as diencephalic syndrome. (25672198)
2014
4
Diencephalic syndrome as sign of tumor progression in a child with neurofibromatosis type 1 and optic pathway glioma: a case report. (23615855)
2013
5
Diencephalic syndrome due to astrocytoma in three infants with failure to thrive. (21955018)
2011
6
Improvement of diencephalic syndrome after partial surgery of optic chiasm glioma. (19489055)
2009
7
Diencephalic syndrome: a frequently delayed diagnosis in failure to thrive. (17405074)
2007
8
Diencephalic syndrome due to hypothalamic tumor: a model of the relationship between weight and puberty onset. (16621905)
2006
9
Malignant transformation of a chiasmatic pilocytic astrocytoma in a patient with diencephalic syndrome. (12612823)
2003
10
Diencephalic syndrome of emaciation in an adult associated with a third ventricle intrinsic craniopharyngioma: case report. (12493122)
2003
11
Treatment of diencephalic syndrome with chemotherapy: growth, tumor response, and long term control. (9655307)
1998
12
Vein of Galen malformation with diencephalic syndrome: a clinical pathologic report. (9853653)
1998
13
Diencephalic syndrome: clinical features and imaging findings. (9296191)
1997
14
Successful chemotherapeutic treatment of diencephalic syndrome with continued tumor presence. (10897816)
1996
15
Hypothalamic tumor associated with atypical forms of anorexia nervosa and diencephalic syndrome. (8274094)
1993
16
Increased energy expenditure in a patient with diencephalic syndrome. (8501572)
1993
17
Diencephalic syndrome with long-term survival. (1811904)
1991
18
Diencephalic syndrome of emaciation in an adult associated with a suprasellar craniopharyngioma--a case report. (2334532)
1990
19
Paramedian diencephalic syndrome. Report of 3 cases. (2266088)
1990
20
Chemotherapeutic treatment of the diencephalic syndrome. A case report. (2702579)
1989
21
Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome. (2986047)
1985
22
Spasmus nutans as a presenting sign of diencephalic syndrome. (4032143)
1985
23
Hypothalamic polar spongioblastoma associated with the diencephalic syndrome. Ultrastructural demonstration of a neuro-endocrine organization. (6426152)
1984
24
Diencephalic syndrome of emaciation (Russell's syndrome). (6803375)
1982
25
Diencephalic syndrome secondary to intracranial astrocytoma in a dog. (7341556)
1981
26
Inappropriate growth hormone release in the diencephalic syndrome of childhood: case report and 4 year endocrinological follow-up. (7438472)
1980
27
Diencephalic syndrome and its relation to opticochiasmatic glioma: review of twelve cases. (460550)
1979
28
Increased urinary catecholamines in an infant with the diencephalic syndrome. (686781)
1978
29
Diencephalic syndrome revisited. (1245953)
1976
30
Brain scanning in the diencephalic syndrome. (4850822)
1974
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
Secretion of growth hormone in the diencephalic syndrome of childhood. (5444580)
1970
36
Diencephalic syndrome. Two case reports. (5243852)
1968
37
Diencephalic syndrome of emaciation: a case report with special reference to the mechanism of hypothalamic dysfunction. (4299901)
1968
38
Nevus unius lateralis, brain tumor, and diencephalic syndrome. (5297879)
1967
39
The diencephalic syndrome. (6059326)
1967
40
Marasmus and the diencephalic syndrome. (5905075)
1966
41
Diencephalic syndrome of emaciation. A caase report. (5294758)
1965
42
Failure to thrive: the diencephalic syndrome of infancy and childhood. (5294539)
1965
43
DIENCEPHALIC SYNDROME OF INFANCY PRESENTING WITH ANOREXIA AND EMACIATION: REPORT OF CASE. (14280553)
1965
44
The diencephalic syndrome of infancy: report of two cases. (5844118)
1965
45
DIENCEPHALIC SYNDROME OF EARLY INFANCY--CASE REPORT. (14171398)
1964
46
Diencephalic syndrome of emaciation. Report of a case. (14010511)
1963
47
Congenital hyperpituitarism of hypothalamic origin: a new diencephalic syndrome with endocrine manifestations. (14444640)
1959
48
A diencephalic syndrome of early infancy. (13482562)
1957
49
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
50
The hypertensive diencephalic syndrome (Page). (18879068)
1948

Variations for Diencephalic Syndrome

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Expression for genes affiliated with Diencephalic Syndrome

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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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Diencephalic Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet