MCID: DNC004
MIFTS: 28

Diencephalic Syndrome malady

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for Diencephalic Syndrome

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Sources:
30ICD10 via Orphanet, 47NIH Rare Diseases, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Diencephalic Syndrome:

Name: Diencephalic Syndrome 47 53 67
Diencephalic Syndrome of Emaciation 53
Diencephalic Syndrome of Childhood 53
Diencephalic Syndrome of Infancy 67
 
Russell Diencephalic Cachexia 53
Russell-Silver Syndrome 67
Diencephalic Cachexia 53
Russell Syndrome 53

Characteristics:

Orphanet epidemiological data:

53
diencephalic syndrome:
Inheritance: Not applicable; Age of onset: Childhood,Infancy; Age of death: adolescent,early childhood,late childhood,young Adult

Classifications:



External Ids:

Orphanet53 ORPHA1672
ICD10 via Orphanet30 C72.8
UMLS via Orphanet68 C0342436

Summaries for Diencephalic Syndrome

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Wikipedia:70 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 for Diencephalic Syndrome

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Human phenotypes related to Diencephalic Syndrome:

 63 53 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 behavioral abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0000708
2 abnormality of the hypothalamus-pituitary axis63 53 hallmark (90%) Very frequent (99-80%) HP:0000864
3 decreased body weight63 53 hallmark (90%) Very frequent (99-80%) HP:0004325
4 neoplasm of the nervous system63 53 hallmark (90%) Very frequent (99-80%) HP:0004375
5 long penis63 53 typical (50%) Frequent (79-30%) HP:0000040
6 everted lower lip vermilion63 53 typical (50%) Frequent (79-30%) HP:0000232
7 hydrocephalus63 53 typical (50%) Frequent (79-30%) HP:0000238
8 macrotia63 53 typical (50%) Frequent (79-30%) HP:0000400
9 nystagmus63 53 typical (50%) Frequent (79-30%) HP:0000639
10 hyperhidrosis63 53 typical (50%) Frequent (79-30%) HP:0000975
11 abnormality of movement63 53 typical (50%) Frequent (79-30%) HP:0100022
12 optic atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0000648
13 large hands63 53 occasional (7.5%) Occasional (29-5%) HP:0001176
14 cachexia53 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:

35
Skin, 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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Articles related to Diencephalic Syndrome:

(show top 50)    (show all 94)
idTitleAuthorsYear
1
An infant with hyperalertness, hyperkinesis, and failure to thrive: a rare diencephalic syndrome due to hypothalamic anaplastic astrocytoma. (26337554)
2015
2
Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants. (25729396)
2015
3
The role of leptin in diencephalic syndrome. (24366994)
2014
4
Diencephalic Syndrome in Childhood Craniopharyngioma-Results of German Multicenter Studies on 485 Long-term Survivors of Childhood Craniopharyngioma. (25077898)
2014
5
Sustained response to weekly vinblastine in 2 children with pilomyxoid astrocytoma associated with diencephalic syndrome. (23042016)
2013
6
Delayed presentation of diencephalic syndrome associated with leptomeningeal dissemination in a child. (23774711)
2013
7
Intermediate pilomyxoid astrocytoma and diencephalic syndrome: imaging findings. (23052462)
2012
8
Successful treatment with a low-dose cisplatin--etoposide regimen for patients with diencephalic syndrome. (22717669)
2012
9
Diencephalic syndrome due to astrocytoma in three infants with failure to thrive. (21955018)
2011
10
Improvement of diencephalic syndrome after partial surgery of optic chiasm glioma. (19489055)
2009
11
Diencephalic syndrome: a frequently delayed diagnosis in failure to thrive. (17405074)
2007
12
Malignant transformation of a chiasmatic pilocytic astrocytoma in a patient with diencephalic syndrome. (12612823)
2003
13
Russell's diencephalic syndrome. (11552038)
2001
14
Hypothalamic tumor associated with atypical forms of anorexia nervosa and diencephalic syndrome. (8274094)
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
The paramedian diencephalic syndrome: a dynamic phenomenon. (3564093)
1987
19
Diencephalic syndrome of emaciation (Russell's syndrome). Long-term survival. (3992458)
1985
20
Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome. (2986047)
1985
21
Cherry red macular degeneration. A clinical manifestation of the diencephalic syndrome? (7180459)
1982
22
Inappropriate growth hormone release in the diencephalic syndrome of childhood: case report and 4 year endocrinological follow-up. (7438472)
1980
23
Diencephalic syndrome and its relation to opticochiasmatic glioma: review of twelve cases. (460550)
1979
24
Endocrine dysfunction in the diencephalic syndrome of emaciation in infancy. (711500)
1978
25
Diencephalic syndrome: a case report. (670853)
1978
26
Increased urinary catecholamines in an infant with the diencephalic syndrome. (686781)
1978
27
Congenital hypothyroid gigantism: a new diencephalic syndrome? (589083)
1977
28
Diencephalic syndrome revisited. (1245953)
1976
29
Brain scanning in the diencephalic syndrome. (4850822)
1974
30
Diencephalic syndrome. (4778929)
1973
31
Studies on growth hormone secretion in a patient with the diencephalic syndrome of emaciation. (4703018)
1973
32
The diencephalic syndrome of emaciation. A case report. (5019153)
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
Nevus unius lateralis, brain tumor, and diencephalic syndrome. (5297879)
1967
37
A diencephalic syndrome of early infancy. (6018804)
1967
38
The diencephalic syndrome of early infancy due to silent brain tumor: with special reference to treatment. (5918397)
1966
39
Failure to thrive: the diencephalic syndrome of infancy and childhood. (5294539)
1965
40
Diencephalic syndrome of emaciation. A caase report. (5294758)
1965
41
DIENCEPHALIC SYNDROME OF EARLY INFANCY--CASE REPORT. (14171398)
1964
42
Radiographic appearance of the soft tissues in the diencephalic syndrome of infancy. (13985860)
1963
43
Congenital hyperpituitarism of hypothalamic origin: a new diencephalic syndrome with endocrine manifestations. (14444640)
1959
44
A diencephalic syndrome of early infancy. (13482562)
1957
45
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
46
On transient bitemporal hemianopsia (with report of a case associated with cerebellopontine-diencephalic syndrome). (13057557)
1953
47
Diencephalic epilepsy and the diencephalic syndrome. (14830074)
1951
48
Test for the presence of the hypertensive diencephalic syndrome using histamine. (18110729)
1949
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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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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet