MCID: DNC004
MIFTS: 33

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

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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NIH Rare Diseases:48 Diencephalic syndrome is a condition caused by a tumor located in a portion of the brain above the brainstem called the diencephalon. the diencephalon includes the hypothalamus and the thalamus. this condition is usually found in infants and young children and may result in symptoms including failure to gain weight and grow normally (failure to thrive), progressive thinness and weakness (emaciation), and hyperactivity and restlessness (hyperkinesia). other symptoms may include abnormal eye movements and vision issues, vomiting, and hydrocephalus. diencephalic syndrome is most commonly caused by astrocytomas; however, other types of tumors may be associated including ependymoma, dysgerminoma, and ganglioma. given their location, these tumors may cause symptoms by leading to abnormal functioning of the hypothalamus and optic nerve. treatment usually involves surgery to remove as much of the tumor as possible, radiation therapy, and chemotherapy. last updated: 4/27/2017

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 Array, Array and Array. An important gene associated with Diencephalic Syndrome is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C). Affiliated tissues include brain, hypothalamus and thalamus.

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

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:

 54 64 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 long penis64 54 Frequent (79-30%) HP:0000040
2 everted lower lip vermilion64 54 Frequent (79-30%) HP:0000232
3 hydrocephalus64 54 Frequent (79-30%) HP:0000238
4 macrotia64 54 Frequent (79-30%) HP:0000400
5 nystagmus64 54 Frequent (79-30%) HP:0000639
6 optic atrophy64 54 Occasional (29-5%) HP:0000648
7 behavioral abnormality64 54 Very frequent (99-80%) HP:0000708
8 abnormality of the hypothalamus-pituitary axis64 54 Very frequent (99-80%) HP:0000864
9 hyperhidrosis64 54 Frequent (79-30%) HP:0000975
10 large hands64 54 Occasional (29-5%) HP:0001176
11 decreased body weight54 Very frequent (99-80%)
12 cachexia64 54 Very frequent (99-80%) HP:0004326
13 neoplasm of the nervous system64 54 Very frequent (99-80%) HP:0004375
14 abnormality of movement64 54 Frequent (79-30%) HP:0100022

Drugs & Therapeutics for Diencephalic Syndrome

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Drugs for Diencephalic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Anastrozoleapproved, investigational279120511-73-12187
Synonyms:
.alpha.,alpha.,.alpha.',.alpha.'-tetramethyl-5(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
1,3-benzenediacetonitrile, a, a, a', a'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)
120511-73-1
2,2'-(5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene)bis(2-methylpropionitrile)
2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene]bis(2-methylpropanenitrile)
2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)benzene-1,3-diyl]bis(2-methylpropanenitrile)
2-[3-(2-cyanopropan-2-yl)-5-(1,2,4-triazol-1-ylmethyl)phenyl]-2-methylpropanenitrile
AC-4234
AC1L1D49
Anastrazole
Anastrole
Anastrozol
Anastrozole (JAN/USAN/INN)
Anastrozole [USAN:INN:BAN]
Arimidex
Arimidex (TN)
Arimidex (Zeneca)
Arimidex, Anastrozole
Asiolex
Astra brand of anastrozole
AstraZeneca brand of anastrozole
C08159
C090450
C17H19N5
CHEBI:2704
CHEMBL1399
CID2187
CPD000466301
 
D00960
DB01217
HMS2052M11
HMS2089N10
HSDB 7462
I06-0021
ICI D1033
ICI-D 1033
ICI-D1033
LS-29563
MLS000759396
MLS001424217
MolPort-005-933-078
NCGC00164619-01
NSC719344
S1188_Selleck
SAM001246525
SBB066057
SMR000466301
UNII-2Z07MYW1AZ
ZD 1033
ZD-1033
ZD1033
ZINC00000941
Zeneca ZD 1033
Zeneca brand of anastrozole
alpha,alpha,Alpha',alpha'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
alpha,alpha,alpha',alpha'-Tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
anastrazole
anastrozole
2Hormones14415
3Hormones, Hormone Substitutes, and Hormone Antagonists13168
4Steroid Synthesis Inhibitors1763
5Hormone Antagonists13180
6Estrogens2542
7Antineoplastic Agents, Hormonal5592
8Aromatase Inhibitors826
9Estrogen Antagonists1349

Interventional clinical trials:

idNameStatusNCT IDPhase
1Can Epimutations be Inherited? How to Manage Patients With Imprinting-related Diseases Who Wish to Become ParentsCompletedNCT02859688
2Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
3Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell SyndromesActive, not recruitingNCT01842659
4Aromatase Inhibitor in Bone Maturation, Children With Silver Russell or Prader-Willi SyndromeActive, not recruitingNCT01520467

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:

36
Brain, Hypothalamus, Thalamus, Skin, Eye, Pituitary, Testes

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
Favorable survival and metabolic outcome for children with diencephalic syndrome using a radiation-sparing approach. (24218181)
2014
7
Pilomyxoid astrocytoma presenting as diencephalic syndrome. (25672198)
2014
8
Sustained response to weekly vinblastine in 2 children with pilomyxoid astrocytoma associated with diencephalic syndrome. (23042016)
2013
9
Diencephalic syndrome as sign of tumor progression in a child with neurofibromatosis type 1 and optic pathway glioma: a case report. (23615855)
2013
10
Delayed presentation of diencephalic syndrome associated with leptomeningeal dissemination in a child. (23774711)
2013
11
Successful treatment with a low-dose cisplatin--etoposide regimen for patients with diencephalic syndrome. (22717669)
2012
12
Intermediate pilomyxoid astrocytoma and diencephalic syndrome: imaging findings. (23052462)
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
Clinics in diagnostic imaging (81). Hypothalamic glioma with diencephalic syndrome. (12762565)
2003
20
Suprasellar germ cell tumor presenting as diencephalic syndrome and precocious puberty. (12705371)
2003
21
Diencephalic syndrome of emaciation in an adult associated with a third ventricle intrinsic craniopharyngioma: case report. (12493122)
2003
22
Malignant transformation of a chiasmatic pilocytic astrocytoma in a patient with diencephalic syndrome. (12612823)
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 and disseminated juvenile pilocytic astrocytomas of the hypothalamic-optic chiasm region. (9210720)
1997
28
Diencephalic syndrome: clinical features and imaging findings. (9296191)
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
Increased energy expenditure in a patient with diencephalic syndrome. (8501572)
1993
33
Hypothalamic tumor associated with atypical forms of anorexia nervosa and diencephalic syndrome. (8274094)
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
Spasmus nutans as a presenting sign of diencephalic syndrome. (4032143)
1985
42
Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome. (2986047)
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
Diencephalic syndrome of emaciation (Russell's syndrome). (6803375)
1982
46
Cherry red macular degeneration. A clinical manifestation of the diencephalic syndrome? (7180459)
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
Diencephalic syndrome: a case report. (670853)
1978

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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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