MCID: DNC004
MIFTS: 24

Diencephalic Syndrome malady

Neuronal, Endocrine categories

Summaries for Diencephalic Syndrome

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33MalaCards
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MalaCards: Diencephalic Syndrome is related to n syndrome and astrocytoma, 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 and spinal cord.

Aliases & Classifications for Diencephalic Syndrome

Sources:
43NIH Rare Diseases, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
diencephalic syndrome:
Age of onset: Childhood


Aliases & Descriptions:

diencephalic syndrome 43 49 61


External Ids:

ICD10 via Orphanet26 C72.8
SNOMED-CT via Orphanet58 237733001
UMLS via Orphanet62 C0342436

Related Diseases for Diencephalic Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Diencephalic Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1n syndrome10.5
2astrocytoma10.4
3pilomyxoid astrocytoma10.2
4gigantism10.2
5pilocytic astrocytoma10.2
6neurofibromatosis10.0
7hypothalamic neoplasm10.0
8neuroaxonal dystrophy10.0
9juvenile pilocytic astrocytoma10.0
10anorexia nervosa10.0
11marasmus10.0
12diencephalic astrocytomas10.0
13juvenile astrocytoma10.0
14familial hypertension10.0
15precocious puberty10.0
16neuroaxonal dystrophy, infantile10.0
17optic pathway glioma10.0
18spasmus nutans10.0

Graphical network of diseases related to Diencephalic Syndrome:



Diseases related to diencephalic syndrome

Clinical Features for Diencephalic Syndrome

Sources:
49Orphanet
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Symptoms:

49 (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

Drugs & Therapeutics for Diencephalic Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Anatomical Context for Diencephalic Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Diencephalic Syndrome:

33
Brain, Spinal cord

Animal Models for Diencephalic Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Diencephalic Syndrome

Sources:
51PubMed
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Articles related to Diencephalic Syndrome:

(show top 50)    (show all 96)
idTitleAuthorsYear
1
Favorable survival and metabolic outcome for children with diencephalic syndrome using a radiation-sparing approach. (24218181)
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
Sustained response to weekly vinblastine in 2 children with pilomyxoid astrocytoma associated with diencephalic syndrome. (23042016)
2013
4
Delayed presentation of diencephalic syndrome associated with leptomeningeal dissemination in a child. (23774711)
2013
5
Successful treatment with a low-dose cisplatin--etoposide regimen for patients with diencephalic syndrome. (22717669)
2012
6
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. (19449422)
2009
7
Diencephalic syndrome due to hypothalamic tumor: a model of the relationship between weight and puberty onset. (16621905)
2006
8
Episodic diencephalic hypoperfusion in Kleine-Levin syndrome. (16944679)
2006
9
Functional MRI study of diencephalic amnesia in Wernicke-Korsakoff syndrome. (15817513)
2005
10
Diencephalic syndrome: a rare and easily overlooked cause of failure to thrive. (15471306)
2004
11
Central Horner's syndrome with contralateral ataxic hemiparesis: a diencephalic alternate syndrome. (12913193)
2003
12
Clinics in diagnostic imaging (81). Hypothalamic glioma with diencephalic syndrome. (12762565)
2003
13
Vein of Galen malformation with diencephalic syndrome: a clinical pathologic report. (9853653)
1998
14
Diencephalic syndrome: clinical features and imaging findings. (9296191)
1997
15
Successful chemotherapeutic treatment of diencephalic syndrome with continued tumor presence. (10897816)
1996
16
von Recklinghausen's disease with diencephalic syndrome in an adult. Case report. (8113871)
1994
17
Paramedian diencephalic syndrome. (7843943)
1994
18
Hypothalamic tumor associated with atypical forms of anorexia nervosa and diencephalic syndrome. (8274094)
1993
19
Increased energy expenditure in a patient with diencephalic syndrome. (8501572)
1993
20
Diencephalic syndrome of emaciation in an adult associated with a suprasellar craniopharyngioma--a case report. (2334532)
1990
21
Diencephalic syndrome of emaciation (Russell's syndrome). Long-term survival. (3992458)
1985
22
Hypothalamic polar spongioblastoma associated with the diencephalic syndrome. Ultrastructural demonstration of a neuro-endocrine organization. (6426152)
1984
23
Diencephalic syndrome due to a suprasellar epidermoid cyst. Case report. (6661939)
1983
24
Diencephalic syndrome secondary to intracranial astrocytoma in a dog. (7341556)
1981
25
Inappropriate growth hormone release in the diencephalic syndrome of childhood: case report and 4 year endocrinological follow-up. (7438472)
1980
26
Increased urinary catecholamines in an infant with the diencephalic syndrome. (686781)
1978
27
Diencephalic syndrome: a case report. (670853)
1978
28
Congenital hypothyroid gigantism: a new diencephalic syndrome? (589083)
1977
29
Brain scanning in the diencephalic syndrome. (4850822)
1974
30
Hypothalamic tumours presenting as the diencephalic syndrome. (4547625)
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
Russell's diencephalic syndrome of early childhood. (5037032)
1972
35
Ocular manifestations of the diencephalic syndrome. (5007349)
1972
36
Secretion of growth hormone in the diencephalic syndrome of childhood. (5444580)
1970
37
Concerning the electrical activity of the brain in children with diencephalic syndrome. (4181498)
1969
38
Diencephalic syndrome. Two case reports. (5243852)
1968
39
Diencephalic syndrome of emaciation: a case report with special reference to the mechanism of hypothalamic dysfunction. (4299901)
1968
40
A diencephalic syndrome of early infancy. (6018804)
1967
41
The diencephalic syndrome of early infancy due to silent brain tumor: with special reference to treatment. (5918397)
1966
42
Failure to thrive: the diencephalic syndrome of infancy and childhood. (5294539)
1965
43
The diencephalic syndrome of infancy: report of two cases. (5844118)
1965
44
DIENCEPHALIC SYNDROME OF EARLY INFANCY--CASE REPORT. (14171398)
1964
45
Radiographic appearance of the soft tissues in the diencephalic syndrome of infancy. (13985860)
1963
46
Congenital hyperpituitarism of hypothalamic origin: a new diencephalic syndrome with endocrine manifestations. (14444640)
1959
47
Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome? (14444642)
1959
48
Diencephalic syndrome of early infancy associated with brain tumor. Report of a case and review of the literature. (13803976)
1959
49
A diencephalic syndrome of early infancy. (13482562)
1957
50
The hypertensive diencephalic syndrome (Page). (18879068)
1948

Genetic Variations for Diencephalic Syndrome

Expression for genes affiliated with Diencephalic Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Diencephalic Syndrome

GO Terms for genes affiliated with Diencephalic Syndrome

Products for genes affiliated with Diencephalic Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Diencephalic Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet