MCID: DNC004
MIFTS: 28

Diencephalic Syndrome malady

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for Diencephalic Syndrome

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Sources:
31ICD10 via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Diencephalic Syndrome:

Name: Diencephalic Syndrome 48 54 68
Diencephalic Syndrome of Emaciation 54
Diencephalic Syndrome of Childhood 54
Diencephalic Syndrome of Infancy 68
 
Russell Diencephalic Cachexia 54
Russell-Silver Syndrome 68
Diencephalic Cachexia 54
Russell Syndrome 54

Characteristics:

Orphanet epidemiological data:

54
diencephalic syndrome:
Inheritance: Not applicable; Age of onset: Childhood,Infancy; Age of death: adolescent,early childhood,late childhood,young Adult

Classifications:



External Ids:

Orphanet54 ORPHA1672
ICD10 via Orphanet31 C72.8
UMLS via Orphanet69 C0342436

Summaries for Diencephalic Syndrome

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Wikipedia:71 Diencephalic syndrome, diencephalic syndrome of emaciation or Russell\'s syndrome is a rare neurological... more...

MalaCards based summary: Diencephalic Syndrome, also known as diencephalic syndrome of emaciation, is related to silver-russell syndrome and silver-russell syndrome due to 7p11.2p13 microduplication, and has symptoms including behavioral abnormality, abnormality of the hypothalamus-pituitary axis and decreased body weight. An important gene associated with Diencephalic Syndrome is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C). Affiliated tissues include skin, brain and pituitary.

Related Diseases for Diencephalic Syndrome

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



Diseases related to diencephalic syndrome

Symptoms & Phenotypes for Diencephalic Syndrome

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Human phenotypes related to Diencephalic Syndrome:

 64 54 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 behavioral abnormality64 54 hallmark (90%) Very frequent (99-80%) HP:0000708
2 abnormality of the hypothalamus-pituitary axis64 54 hallmark (90%) Very frequent (99-80%) HP:0000864
3 decreased body weight64 54 hallmark (90%) Very frequent (99-80%) HP:0004325
4 neoplasm of the nervous system64 54 hallmark (90%) Very frequent (99-80%) HP:0004375
5 long penis64 54 typical (50%) Frequent (79-30%) HP:0000040
6 everted lower lip vermilion64 54 typical (50%) Frequent (79-30%) HP:0000232
7 hydrocephalus64 54 typical (50%) Frequent (79-30%) HP:0000238
8 macrotia64 54 typical (50%) Frequent (79-30%) HP:0000400
9 nystagmus64 54 typical (50%) Frequent (79-30%) HP:0000639
10 hyperhidrosis64 54 typical (50%) Frequent (79-30%) HP:0000975
11 abnormality of movement64 54 typical (50%) Frequent (79-30%) HP:0100022
12 optic atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0000648
13 large hands64 54 occasional (7.5%) Occasional (29-5%) HP:0001176
14 cachexia54 Very frequent (99-80%)

UMLS symptoms related to Diencephalic Syndrome:


elevated mood

Drugs & Therapeutics for Diencephalic Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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:

36
Skin, Brain, Pituitary, Hypothalamus, Testes, Spinal cord

Publications for Diencephalic Syndrome

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Articles related to Diencephalic Syndrome:

(show top 50)    (show all 94)
idTitleAuthorsYear
1
Child Neurology: Diencephalic syndrome-like presentation of a cervicomedullary brainstem tumor. (27872228)
2016
2
An infant with hyperalertness, hyperkinesis, and failure to thrive: a rare diencephalic syndrome due to hypothalamic anaplastic astrocytoma. (26337554)
2015
3
Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants. (25729396)
2015
4
The role of leptin in diencephalic syndrome. (24366994)
2014
5
Diencephalic Syndrome in Childhood Craniopharyngioma-Results of German Multicenter Studies on 485 Long-term Survivors of Childhood Craniopharyngioma. (25077898)
2014
6
Pilomyxoid astrocytoma presenting as diencephalic syndrome. (25672198)
2014
7
Favorable survival and metabolic outcome for children with diencephalic syndrome using a radiation-sparing approach. (24218181)
2014
8
Sustained response to weekly vinblastine in 2 children with pilomyxoid astrocytoma associated with diencephalic syndrome. (23042016)
2013
9
Delayed presentation of diencephalic syndrome associated with leptomeningeal dissemination in a child. (23774711)
2013
10
Diencephalic syndrome as sign of tumor progression in a child with neurofibromatosis type 1 and optic pathway glioma: a case report. (23615855)
2013
11
Intermediate pilomyxoid astrocytoma and diencephalic syndrome: imaging findings. (23052462)
2012
12
Successful treatment with a low-dose cisplatin--etoposide regimen for patients with diencephalic syndrome. (22717669)
2012
13
Diencephalic syndrome due to astrocytoma in three infants with failure to thrive. (21955018)
2011
14
Improvement of diencephalic syndrome after partial surgery of optic chiasm glioma. (19489055)
2009
15
Diencephalic syndrome: a frequently delayed diagnosis in failure to thrive. (17405074)
2007
16
Diencephalic syndrome due to hypothalamic tumor: a model of the relationship between weight and puberty onset. (16621905)
2006
17
Diencephalic syndrome: a cause of failure to thrive and a model of partial growth hormone resistance. (15930202)
2005
18
Diencephalic syndrome: a rare and easily overlooked cause of failure to thrive. (15471306)
2004
19
Malignant transformation of a chiasmatic pilocytic astrocytoma in a patient with diencephalic syndrome. (12612823)
2003
20
Diencephalic syndrome of emaciation in an adult associated with a third ventricle intrinsic craniopharyngioma: case report. (12493122)
2003
21
Clinics in diagnostic imaging (81). Hypothalamic glioma with diencephalic syndrome. (12762565)
2003
22
Suprasellar germ cell tumor presenting as diencephalic syndrome and precocious puberty. (12705371)
2003
23
Russell's diencephalic syndrome. (11552038)
2001
24
An uncommon and often overlooked cause of failure to thrive: diencephalic syndrome. (10776962)
2000
25
Treatment of diencephalic syndrome with chemotherapy: growth, tumor response, and long term control. (9655307)
1998
26
Vein of Galen malformation with diencephalic syndrome: a clinical pathologic report. (9853653)
1998
27
Diencephalic syndrome: clinical features and imaging findings. (9296191)
1997
28
Diencephalic syndrome and disseminated juvenile pilocytic astrocytomas of the hypothalamic-optic chiasm region. (9210720)
1997
29
Successful chemotherapeutic treatment of diencephalic syndrome with continued tumor presence. (10897816)
1996
30
von Recklinghausen's disease with diencephalic syndrome in an adult. Case report. (8113871)
1994
31
Paramedian diencephalic syndrome. (7843943)
1994
32
Hypothalamic tumor associated with atypical forms of anorexia nervosa and diencephalic syndrome. (8274094)
1993
33
Increased energy expenditure in a patient with diencephalic syndrome. (8501572)
1993
34
Diencephalic syndrome with long-term survival. (1811904)
1991
35
Diencephalic syndrome of emaciation in an adult associated with a suprasellar craniopharyngioma--a case report. (2334532)
1990
36
Paramedian diencephalic syndrome. Report of 3 cases. (2266088)
1990
37
Chemotherapeutic treatment of the diencephalic syndrome. A case report. (2702579)
1989
38
Diencephalic syndrome following cervical spinal cord trauma. (2718804)
1989
39
The paramedian diencephalic syndrome: a dynamic phenomenon. (3564093)
1987
40
Diencephalic syndrome of emaciation (Russell's syndrome). Long-term survival. (3992458)
1985
41
Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome. (2986047)
1985
42
Spasmus nutans as a presenting sign of diencephalic syndrome. (4032143)
1985
43
Hypothalamic polar spongioblastoma associated with the diencephalic syndrome. Ultrastructural demonstration of a neuro-endocrine organization. (6426152)
1984
44
Diencephalic syndrome due to a suprasellar epidermoid cyst. Case report. (6661939)
1983
45
Cherry red macular degeneration. A clinical manifestation of the diencephalic syndrome? (7180459)
1982
46
Diencephalic syndrome of emaciation (Russell's syndrome). (6803375)
1982
47
Diencephalic syndrome secondary to intracranial astrocytoma in a dog. (7341556)
1981
48
Inappropriate growth hormone release in the diencephalic syndrome of childhood: case report and 4 year endocrinological follow-up. (7438472)
1980
49
Diencephalic syndrome and its relation to opticochiasmatic glioma: review of twelve cases. (460550)
1979
50
Endocrine dysfunction in the diencephalic syndrome of emaciation in infancy. (711500)
1978

Variations for Diencephalic Syndrome

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Clinvar genetic disease variations for Diencephalic Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CDKN1CNM_000076.2(CDKN1C): c.836G> T (p.Arg279Leu)SNVPathogenicrs318240750GRCh38Chr 11, 2884119: 2884119

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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GO Terms for genes affiliated with Diencephalic Syndrome

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Sources for Diencephalic Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet