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

Wikipedia:⁶⁸ 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. Affiliated tissues include skin, pituitary and hypothalamus.

Related Diseases for Diencephalic Syndrome

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
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Diseases related to Diencephalic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)

id	Related Disease	Score
1	silver-russell syndrome	12.4
2	silver-russell syndrome due to 7p11.2p13 microduplication	12.0
3	silver-russell syndrome due to an imprinting defect of 11p15	11.8
4	silver-russell syndrome due to 11p15 microduplication	11.8
5	silver-russell syndrome due to maternal uniparental disomy of chromosome 11	11.8
6	silver-russell syndrome due to a point mutation	11.8
7	silver-russell syndrome due to maternal uniparental disomy of chromosome 7	11.8
8	astrocytoma	10.2
9	beckwith-wiedemann syndrome	10.1
10	glioma	10.1
11	mercury poisoning	10.0
12	craniopharyngioma	10.0
13	pilomyxoid astrocytoma	10.0
14	growth hormone deficiency	9.9
15	pilocytic astrocytoma	9.9
16	gigantism	9.9
17	anorexia nervosa	9.7
18	neurofibromatosis, type 1	9.7
19	congenital hypothyroidism	9.7
20	marasmus	9.7
21	hypothyroidism	9.7
22	neuroaxonal dystrophy	9.7
23	hyperpituitarism	9.7
24	cervicitis	9.7
25	hypothalamic neoplasm	9.7
26	optic nerve glioma	9.7
27	juvenile pilocytic astrocytoma	9.7
28	lipodystrophy	9.7
29	neurofibromatosis	9.7
30	optic pathway glioma	9.7
31	precocious puberty	9.7
32	spasmus nutans	9.7
33	cystic fibrosis	9.7
34	insulin-like growth factor i	9.7
35	down syndrome	9.7

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

Symptoms for Diencephalic Syndrome

Sources:
⁶¹The Human Phenotype Ontology, ⁵¹Orphanet, ⁶⁵UMLS
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Symptoms:

⁵¹ (show all 14)

hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies
psychic/behavioural troubles
central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
wasted (excluding lipodystrophy)/poorly muscled build/cachexy
failure to thrive/difficulties for feeding in infancy/growth delay
nystagmus
protruding lips

long/large ear
hyperhidrosis/increased sweating
macropenis/megapenis/large penis
hydrocephaly
movement disorder
optic nerve anomaly/optic atrophy/anomaly of the papilla
large hand

HPO human phenotypes related to Diencephalic Syndrome:

(show all 13)

id	Description	Frequency	HPO Source Accession
1	behavioral abnormality	hallmark (90%)	HP:0000708
2	abnormality of the hypothalamus-pituitary axis	hallmark (90%)	HP:0000864
3	decreased body weight	hallmark (90%)	HP:0004325
4	neoplasm of the nervous system	hallmark (90%)	HP:0004375
5	long penis	typical (50%)	HP:0000040
6	everted lower lip vermilion	typical (50%)	HP:0000232
7	hydrocephalus	typical (50%)	HP:0000238
8	macrotia	typical (50%)	HP:0000400
9	nystagmus	typical (50%)	HP:0000639
10	hyperhidrosis	typical (50%)	HP:0000975
11	abnormality of movement	typical (50%)	HP:0100022
12	optic atrophy	occasional (7.5%)	HP:0000648
13	large hands	occasional (7.5%)	HP:0001176

UMLS symptoms related to Diencephalic Syndrome:

elevated mood

Drugs & Therapeutics for Diencephalic Syndrome

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials
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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Diencephalic Syndrome

Genetic Tests for Diencephalic Syndrome

Anatomical Context for Diencephalic Syndrome

Sources:
³³MalaCards
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MalaCards organs/tissues related to Diencephalic Syndrome:

³³

Skin, Pituitary, Hypothalamus, Brain, Endothelial, Prostate, T cells

Animal Models for Diencephalic Syndrome or affiliated genes

Publications for Diencephalic Syndrome

Sources:
⁵⁴PubMed
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Articles related to Diencephalic Syndrome:

(show top 50) (show all 93)

id	Title	Authors	Year
1	An infant with hyperalertness, hyperkinesis, and failure to thrive: a rare diencephalic syndrome due to hypothalamic anaplastic astrocytoma. (26337554)	Stival A.... Sardi I.	2015
2	Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants. (25729396)	Kim A.... Seo J.K.	2015
3	The role of leptin in diencephalic syndrome. (24366994)	Velasco P.... Gallego S.	2014
4	Pilomyxoid astrocytoma presenting as diencephalic syndrome. (25672198)	Khan A.A.... El-Borai A.K.	2014
5	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
6	Diencephalic syndrome due to astrocytoma in three infants with failure to thrive. (21955018)	Densupsoontorn N.... Chiewvit P.	2011
7	Improvement of diencephalic syndrome after partial surgery of optic chiasm glioma. (19489055)	Marec-Berard P.... Frappaz D.	2009
8	Diencephalic syndrome: a frequently delayed diagnosis in failure to thrive. (17405074)	Huber J.... Urban C.	2007
9	Diencephalic syndrome due to hypothalamic tumor: a model of the relationship between weight and puberty onset. (16621905)	Brauner R.... Sainte-Rose C.	2006
10	Malignant transformation of a chiasmatic pilocytic astrocytoma in a patient with diencephalic syndrome. (12612823)	van der Wal E.J.... Edwards-Brown M.	2003
11	Diencephalic syndrome of emaciation in an adult associated with a third ventricle intrinsic craniopharyngioma: case report. (12493122)	Miyoshi Y.... Nishimoto K.	2003
12	Treatment of diencephalic syndrome with chemotherapy: growth, tumor response, and long term control. (9655307)	Gropman A.L.... Finlay J.	1998
13	Vein of Galen malformation with diencephalic syndrome: a clinical pathologic report. (9853653)	Squires L.A.... Cottingham S.	1998
14	Diencephalic syndrome: clinical features and imaging findings. (9296191)	Poussaint T.Y.... Goumnerova L.	1997
15	Successful chemotherapeutic treatment of diencephalic syndrome with continued tumor presence. (10897816)	Shuper A.... Cohen I.	1996
16	Hypothalamic tumor associated with atypical forms of anorexia nervosa and diencephalic syndrome. (8274094)	Chipkevitch E.... Fernandes A.C.	1993
17	Increased energy expenditure in a patient with diencephalic syndrome. (8501572)	Vlachopapadopoulou E.... Matthews D.E.	1993
18	Diencephalic syndrome with long-term survival. (1811904)	Leary P.M.... Bonnici F.	1991
19	Diencephalic syndrome of emaciation in an adult associated with a suprasellar craniopharyngioma--a case report. (2334532)	Sharma R.R.... Lad S.D.	1990
20	Paramedian diencephalic syndrome. Report of 3 cases. (2266088)	Sabharwal R.K.... Anjaneyulu A.	1990
21	Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome. (2986047)	Nagashima K.... Ishida Y.	1985
22	Spasmus nutans as a presenting sign of diencephalic syndrome. (4032143)	Garty B.Z.... Bauman B.	1985
23	Hypothalamic polar spongioblastoma associated with the diencephalic syndrome. Ultrastructural demonstration of a neuro-endocrine organization. (6426152)	de ChadarAcvian J.P.... Hollenberg R.D.	1984
24	Diencephalic syndrome of emaciation (Russell's syndrome). (6803375)	Waga S.... Sakakura M.	1982
25	Diencephalic syndrome secondary to intracranial astrocytoma in a dog. (7341556)	Nelson R.W.... Miller J.B.	1981
26	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
27	Diencephalic syndrome and its relation to opticochiasmatic glioma: review of twelve cases. (460550)	DeSousa A.L.... Fitzgerald J.	1979
28	Increased urinary catecholamines in an infant with the diencephalic syndrome. (686781)	Karpathios T.... Thomaidis T.	1978
29	Diencephalic syndrome revisited. (1245953)	Burr I.M.... Butler I.J.	1976
30	Brain scanning in the diencephalic syndrome. (4850822)	Pelc S.... Decostre P.	1974
31	The diencephalic syndrome of emaciation. A case report. (5019153)	HAoger A.	1972
32	The diencephalic syndrome in infants. A review in relation to optic nerve glioma. (4659145)	Pelc S.	1972
33	Diencephalic syndrome of infantile emaciation. Analysis of literature and report of further 3 cases. (5034666)	Addy D.P.... Hudson F.P.	1972
34	Paradoxical growth in a patient with the diencephalic syndrome. (5422123)	Fishman M.A.... Peake G.T.	1970
35	Secretion of growth hormone in the diencephalic syndrome of childhood. (5444580)	Pimstone B.L.... Eale D.	1970
36	Diencephalic syndrome. Two case reports. (5243852)	Albrand O.W.... Youmans J.R.	1968
37	Diencephalic syndrome of emaciation: a case report with special reference to the mechanism of hypothalamic dysfunction. (4299901)	Imai M.... Suwa S.	1968
38	Nevus unius lateralis, brain tumor, and diencephalic syndrome. (5297879)	Meyerson L.B.	1967
39	The diencephalic syndrome. (6059326)	Ingram T.T.	1967
40	Marasmus and the diencephalic syndrome. (5905075)	Diamond E.F.... Averick N.	1966
41	Diencephalic syndrome of emaciation. A caase report. (5294758)	Chynn K.Y.... Sharkey R.	1965
42	Failure to thrive: the diencephalic syndrome of infancy and childhood. (5294539)	Smith K.R.... McAlister W.H.	1965
43	DIENCEPHALIC SYNDROME OF INFANCY PRESENTING WITH ANOREXIA AND EMACIATION: REPORT OF CASE. (14280553)	PITLYK P.J.... Johnson G.M.	1965
44	The diencephalic syndrome of infancy: report of two cases. (5844118)	Torrey E.F.... Uyeda C.I.	1965
45	DIENCEPHALIC SYNDROME OF EARLY INFANCY--CASE REPORT. (14171398)	Cussen L.J.	1964
46	Diencephalic syndrome of emaciation. Report of a case. (14010511)	AAS K.	1963
47	Congenital hyperpituitarism of hypothalamic origin: a new diencephalic syndrome with endocrine manifestations. (14444640)	SEIP M.	1959
48	A diencephalic syndrome of early infancy. (13482562)	DODS L.	1957
49	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)	BARRAQUER-FERRE L.	1954
50	The hypertensive diencephalic syndrome (Page). (18879068)	VAN BUCHEM F.S.	1948