Diencephalic Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Aliases & Classifications for Diencephalic Syndrome

Sources:
³¹ICD10 via Orphanet, ⁴⁸NIH Rare Diseases, ⁵⁴Orphanet, ⁶⁸UMLS, ⁶⁹UMLS via Orphanet
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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Neoplasms

Malignant neoplasms of eye, brain and other parts of central nervous system

Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system

Malignant neoplasm: Overlapping lesion of brain and other parts of central nervous system

Orphanet: ⁵⁴

Rare endocrine diseases

External Ids:

Orphanet⁵⁴ ORPHA1672

ICD10 via Orphanet³¹ C72.8

UMLS via Orphanet⁶⁹ C0342436

Summaries for Diencephalic Syndrome

Sources:
³⁶MalaCards, ⁴⁸NIH Rare Diseases, ⁷¹Wikipedia
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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

Sources:
²⁰GeneAnalytics, ²¹GeneCards
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Diseases related to Diencephalic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)

id	Related Disease	Score
1	silver-russell syndrome	12.4
2	silver-russell syndrome due to 7p11.2p13 microduplication	11.9
3	silver-russell syndrome due to an imprinting defect of 11p15	11.7
4	silver-russell syndrome due to 11p15 microduplication	11.7
5	silver-russell syndrome due to maternal uniparental disomy of chromosome 11	11.7
6	silver-russell syndrome due to a point mutation	11.7
7	silver-russell syndrome due to maternal uniparental disomy of chromosome 7	11.7
8	astrocytoma	10.0
9	beckwith-wiedemann syndrome	10.0
10	glioma	9.9
11	craniopharyngioma	9.8
12	pilomyxoid astrocytoma	9.8
13	growth hormone deficiency	9.8
14	epilepsy	9.7
15	pilocytic astrocytoma	9.7
16	gigantism	9.7
17	temple syndrome	9.7
18	anorexia nervosa	9.6
19	neurofibromatosis, type 1	9.6
20	congenital hypothyroidism	9.6
21	marasmus	9.6
22	hypothyroidism	9.6
23	neuroaxonal dystrophy	9.6
24	hyperpituitarism	9.6
25	cervicitis	9.6
26	hypothalamic neoplasm	9.6
27	optic nerve glioma	9.6
28	juvenile pilocytic astrocytoma	9.6
29	lipodystrophy	9.6
30	neurofibromatosis	9.6
31	optic pathway glioma	9.6
32	precocious puberty	9.6
33	spasmus nutans	9.6
34	cystic fibrosis	9.6
35	insulin-like growth factor i	9.6
36	cryptorchidism	9.6
37	mayer-rokitansky-kuster-hauser syndrome	9.6
38	down syndrome	9.6
39	dystonia	9.6

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

Symptoms & Phenotypes for Diencephalic Syndrome

Sources:
⁵⁴Orphanet, ⁶⁴The Human Phenotype Ontology
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Human phenotypes related to Diencephalic Syndrome:

⁵⁴ ⁶⁴ (show all 14)

id	Description	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

Sources:
¹BitterDB, ⁴ClinicalTrials, ¹⁰DGIdb, ¹⁴DrugBank, ²⁹HMDB, ³³IUPHAR, ⁵⁰Novoseek, ⁵⁶PharmGKB
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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

279

120511-73-1

2187

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

2

Hormones

14415

3

Hormones, Hormone Substitutes, and Hormone Antagonists

13168

4

Steroid Synthesis Inhibitors

1763

5

Hormone Antagonists

13180

6

Estrogens

2542

7

Antineoplastic Agents, Hormonal

5592

8

Aromatase Inhibitors

826

9

Estrogen Antagonists

1349

Interventional clinical trials:

id	Name	Status	NCT ID
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

Sources:
³⁶MalaCards
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MalaCards organs/tissues related to Diencephalic Syndrome:

³⁶

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

Publications for Diencephalic Syndrome

Sources:
⁵⁷PubMed
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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)	Conway M.... Moharir M.	2016
2	An infant with hyperalertness, hyperkinesis, and failure to thrive: a rare diencephalic syndrome due to hypothalamic anaplastic astrocytoma. (26337554)	Stival A.... Sardi I.	2015
3	Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants. (25729396)	Kim A.... Seo J.K.	2015
4	The role of leptin in diencephalic syndrome. (24366994)	Velasco P.... Gallego S.	2014
5	Diencephalic Syndrome in Childhood Craniopharyngioma-Results of German Multicenter Studies on 485 Long-term Survivors of Childhood Craniopharyngioma. (25077898)	Hoffmann A.... MA1ller H.L.	2014
6	Favorable survival and metabolic outcome for children with diencephalic syndrome using a radiation-sparing approach. (24218181)	Kilday J.P.... Tabori U.	2014
7	Pilomyxoid astrocytoma presenting as diencephalic syndrome. (25672198)	Khan A.A.... El-Borai A.K.	2014
8	Sustained response to weekly vinblastine in 2 children with pilomyxoid astrocytoma associated with diencephalic syndrome. (23042016)	Singh G.... Lafay-Cousin L.	2013
9	Diencephalic syndrome as sign of tumor progression in a child with neurofibromatosis type 1 and optic pathway glioma: a case report. (23615855)	Cavicchiolo M.E.... Da Dalt L.	2013
10	Delayed presentation of diencephalic syndrome associated with leptomeningeal dissemination in a child. (23774711)	Crawford J.R.... Levy M.L.	2013
11	Successful treatment with a low-dose cisplatin--etoposide regimen for patients with diencephalic syndrome. (22717669)	Sardi I.... Massimino M.	2012
12	Intermediate pilomyxoid astrocytoma and diencephalic syndrome: imaging findings. (23052462)	Nakamura O.K.... Rosemberg S.	2012
13	Diencephalic syndrome due to astrocytoma in three infants with failure to thrive. (21955018)	Densupsoontorn N.... Chiewvit P.	2011
14	Improvement of diencephalic syndrome after partial surgery of optic chiasm glioma. (19489055)	Marec-Berard P.... Frappaz D.	2009
15	Diencephalic syndrome: a frequently delayed diagnosis in failure to thrive. (17405074)	Huber J.... Urban C.	2007
16	Diencephalic syndrome due to hypothalamic tumor: a model of the relationship between weight and puberty onset. (16621905)	Brauner R.... Sainte-Rose C.	2006
17	Diencephalic syndrome: a cause of failure to thrive and a model of partial growth hormone resistance. (15930202)	Fleischman A.... Cohen L.E.	2005
18	Diencephalic syndrome: a rare and easily overlooked cause of failure to thrive. (15471306)	Dejkhamron P.... Unachak K.	2004
19	Clinics in diagnostic imaging (81). Hypothalamic glioma with diencephalic syndrome. (12762565)	Visrutaratna P.... Oranratanachai K.	2003
20	Suprasellar germ cell tumor presenting as diencephalic syndrome and precocious puberty. (12705371)	Mohan S.M.... Dhandekar C.	2003
21	Diencephalic syndrome of emaciation in an adult associated with a third ventricle intrinsic craniopharyngioma: case report. (12493122)	Miyoshi Y.... Nishimoto K.	2003
22	Malignant transformation of a chiasmatic pilocytic astrocytoma in a patient with diencephalic syndrome. (12612823)	van der Wal E.J.... Edwards-Brown M.	2003
23	Russell's diencephalic syndrome. (11552038)	Zafeiriou D.I.... Gombakis N.	2001
24	An uncommon and often overlooked cause of failure to thrive: diencephalic syndrome. (10776962)	Ertem D.... Pehlivanoglu E.	2000
25	Treatment of diencephalic syndrome with chemotherapy: growth, tumor response, and long term control. (9655307)	Gropman A.L.... Finlay J.	1998
26	Vein of Galen malformation with diencephalic syndrome: a clinical pathologic report. (9853653)	Squires L.A.... Cottingham S.	1998
27	Diencephalic syndrome and disseminated juvenile pilocytic astrocytomas of the hypothalamic-optic chiasm region. (9210720)	Perilongo G.... Laverda A.	1997
28	Diencephalic syndrome: clinical features and imaging findings. (9296191)	Poussaint T.Y.... Goumnerova L.	1997
29	Successful chemotherapeutic treatment of diencephalic syndrome with continued tumor presence. (10897816)	Shuper A.... Cohen I.	1996
30	von Recklinghausen's disease with diencephalic syndrome in an adult. Case report. (8113871)	Tanabe M.... Hori T.	1994
31	Paramedian diencephalic syndrome. (7843943)	Antonini G.... Argentino C.	1994
32	Increased energy expenditure in a patient with diencephalic syndrome. (8501572)	Vlachopapadopoulou E.... Matthews D.E.	1993
33	Hypothalamic tumor associated with atypical forms of anorexia nervosa and diencephalic syndrome. (8274094)	Chipkevitch E.... Fernandes A.C.	1993
34	Diencephalic syndrome with long-term survival. (1811904)	Leary P.M.... Bonnici F.	1991
35	Diencephalic syndrome of emaciation in an adult associated with a suprasellar craniopharyngioma--a case report. (2334532)	Sharma R.R.... Lad S.D.	1990
36	Paramedian diencephalic syndrome. Report of 3 cases. (2266088)	Sabharwal R.K.... Anjaneyulu A.	1990
37	Chemotherapeutic treatment of the diencephalic syndrome. A case report. (2702579)	Chamberlain M.C.... Levin V.A.	1989
38	Diencephalic syndrome following cervical spinal cord trauma. (2718804)	Iob I.... Rampazzo A.	1989
39	The paramedian diencephalic syndrome: a dynamic phenomenon. (3564093)	Meissner I.... Stein S.D.	1987
40	Diencephalic syndrome of emaciation (Russell's syndrome). Long-term survival. (3992458)	Namba S.... Yagyu Y.	1985
41	Spasmus nutans as a presenting sign of diencephalic syndrome. (4032143)	Garty B.Z.... Bauman B.	1985
42	Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome. (2986047)	Nagashima K.... Ishida Y.	1985
43	Hypothalamic polar spongioblastoma associated with the diencephalic syndrome. Ultrastructural demonstration of a neuro-endocrine organization. (6426152)	de ChadarAcvian J.P.... Hollenberg R.D.	1984
44	Diencephalic syndrome due to a suprasellar epidermoid cyst. Case report. (6661939)	Eliash A.... Laron Z.	1983
45	Diencephalic syndrome of emaciation (Russell's syndrome). (6803375)	Waga S.... Sakakura M.	1982
46	Cherry red macular degeneration. A clinical manifestation of the diencephalic syndrome? (7180459)	Sakura N.... Choshi K.	1982
47	Diencephalic syndrome secondary to intracranial astrocytoma in a dog. (7341556)	Nelson R.W.... Miller J.B.	1981
48	Inappropriate growth hormone release in the diencephalic syndrome of childhood: case report and 4 year endocrinological follow-up. (7438472)	Drop S.L.... Colle E.	1980
49	Diencephalic syndrome and its relation to opticochiasmatic glioma: review of twelve cases. (460550)	DeSousa A.L.... Fitzgerald J.	1979
50	Diencephalic syndrome: a case report. (670853)	Boonyaprakob U.... Pacharee P.	1978