MCID: DNC004
MIFTS: 33

Diencephalic Syndrome malady

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for Diencephalic Syndrome

Aliases & Descriptions for Diencephalic Syndrome:

Name: Diencephalic Syndrome 50 56 69
Diencephalic Syndrome of Emaciation 50 56
Diencephalic Syndrome of Childhood 50 56
Russell Diencephalic Cachexia 50 56
Diencephalic Cachexia 50 56
Russell Syndrome 50 56
Diencephalic Syndrome of Infancy 69
Russell-Silver Syndrome 69

Characteristics:

Orphanet epidemiological data:

56
diencephalic syndrome
Inheritance: Not applicable; Age of onset: Childhood,Infancy; Age of death: adolescent,early childhood,late childhood,young Adult;

Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

Orphanet 56 ORPHA1672
ICD10 via Orphanet 34 C72.8
UMLS via Orphanet 70 C0342436

Summaries for Diencephalic Syndrome

NIH Rare Diseases : 50 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 cachexia, hydrocephalus and nystagmus. An important gene associated with Diencephalic Syndrome is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C). The drugs Anastrozole and Steroid Synthesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include brain, hypothalamus and skin.

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

Related Diseases for Diencephalic Syndrome

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



Diseases related to Diencephalic Syndrome

Symptoms & Phenotypes for Diencephalic Syndrome

Human phenotypes related to Diencephalic Syndrome:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cachexia 56 32 Very frequent (99-80%) HP:0004326
2 hydrocephalus 56 32 Frequent (79-30%) HP:0000238
3 nystagmus 56 32 Frequent (79-30%) HP:0000639
4 hyperhidrosis 56 32 Frequent (79-30%) HP:0000975
5 macrotia 56 32 Frequent (79-30%) HP:0000400
6 behavioral abnormality 56 32 Very frequent (99-80%) HP:0000708
7 optic atrophy 56 32 Occasional (29-5%) HP:0000648
8 abnormality of movement 56 32 Frequent (79-30%) HP:0100022
9 everted lower lip vermilion 56 32 Frequent (79-30%) HP:0000232
10 long penis 56 32 Frequent (79-30%) HP:0000040
11 neoplasm of the nervous system 56 32 Very frequent (99-80%) HP:0004375
12 large hands 56 32 Occasional (29-5%) HP:0001176
13 abnormality of the hypothalamus-pituitary axis 56 32 Very frequent (99-80%) HP:0000864
14 decreased body weight 56 Very frequent (99-80%)

Drugs & Therapeutics for Diencephalic Syndrome

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

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anastrozole Approved, Investigational 120511-73-1 2187
2 Steroid Synthesis Inhibitors
3 Hormone Antagonists
4 Hormones
5 Hormones, Hormone Substitutes, and Hormone Antagonists
6 Estrogen Antagonists
7 Estrogens
8 Aromatase Inhibitors
9 Antineoplastic Agents, Hormonal

Interventional clinical trials:


id Name Status NCT ID Phase
1 Can Epimutations be Inherited? How to Manage Patients With Imprinting-related Diseases Who Wish to Become Parents Completed NCT02859688
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
3 Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes Active, not recruiting NCT01842659
4 Aromatase Inhibitor in Bone Maturation, Children With Silver Russell or Prader-Willi Syndrome Active, not recruiting NCT01520467

Search NIH Clinical Center for Diencephalic Syndrome

Genetic Tests for Diencephalic Syndrome

Anatomical Context for Diencephalic Syndrome

MalaCards organs/tissues related to Diencephalic Syndrome:

39
Brain, Hypothalamus, Skin, Eye, Thalamus, Pituitary, Testes

Publications for Diencephalic Syndrome

Articles related to Diencephalic Syndrome:

(show top 50) (show all 94)
id Title Authors Year
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

Expression for Diencephalic Syndrome

Search GEO for disease gene expression data for Diencephalic Syndrome.

Pathways for Diencephalic Syndrome

GO Terms for Diencephalic Syndrome

Sources for Diencephalic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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