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

Summaries for Diencephalic Syndrome

MalaCards based summary: Diencephalic Syndrome is related to astrocytoma and hypertension, and has symptoms including behavioral abnormality, abnormality of the hypothalamus-pituitary axis and decreased body weight. An important gene associated with Diencephalic Syndrome is LEP (leptin). Affiliated tissues include brain, hypothalamus and pituitary.

Aliases & Classifications for Diencephalic Syndrome

Sources:
⁴²NIH Rare Diseases, ⁴⁸Orphanet, ⁶¹UMLS, ²⁷ICD10 via Orphanet, ⁶²UMLS via Orphanet
See all sources

Diencephalic Syndrome, Aliases & Descriptions:

Name: Diencephalic Syndrome ⁴² ⁴⁸ ⁶¹

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases, Endocrine diseases

ICD10: ²⁷

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: ⁴⁸

Rare neurological diseases

Rare endocrine diseases

Characteristics (Orphanet epidemiological data):

⁴⁸

diencephalic syndrome:
Age of onset: Childhood

External Ids:

ICD10 via Orphanet²⁷ C72.8

UMLS via Orphanet⁶² C0342436

Related Diseases for Diencephalic Syndrome

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

Diseases related to Diencephalic Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 22)

id	Related Disease	Score
1	astrocytoma	10.4
2	hypertension	10.3
3	craniopharyngioma	10.3
4	pilomyxoid astrocytoma	10.2
5	gigantism	10.2
6	pilocytic astrocytoma	10.2
7	neuroaxonal dystrophy	10.0
8	juvenile pilocytic astrocytoma	10.0
9	congenital hypothyroidism	10.0
10	neurofibromatosis	10.0
11	marasmus	10.0
12	anorexia nervosa	10.0
13	hypothalamic neoplasm	10.0
14	cervicitis	10.0
15	hyperpituitarism	10.0
16	hypothyroidism	10.0
17	lipodystrophy	10.0
18	optic nerve glioma	10.0
19	optic pathway glioma	10.0
20	precocious puberty	10.0
21	germ cell tumors	10.0
22	spasmus nutans	10.0

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

Symptoms for Diencephalic Syndrome

Sources:
⁵⁸The Human Phenotype Ontology, ⁴⁸Orphanet
See all sources

Symptoms:

⁴⁸ (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	enlarged 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

Drugs & Therapeutics for Diencephalic Syndrome

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Diencephalic Syndrome

Search NIH Clinical Center for Diencephalic Syndrome

Genetic Tests for Diencephalic Syndrome

Anatomical Context for Diencephalic Syndrome

Sources:
³²MalaCards
See all sources

MalaCards organs/tissues related to Diencephalic Syndrome:

³²

Brain, Hypothalamus, Pituitary, Testes, Spinal cord

Animal Models for Diencephalic Syndrome or affiliated genes

Publications for Diencephalic Syndrome

Sources:
⁵¹PubMed
See all sources

Articles related to Diencephalic Syndrome:

(show top 50) (show all 89)

id	Title	Authors	Year
1	The role of leptin in diencephalic syndrome. (24366994)	Velasco P.... Gallego S.	2014
2	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
3	Diencephalic syndrome due to astrocytoma in three infants with failure to thrive. (21955018)	Densupsoontorn N.... Chiewvit P.	2011
4	Improvement of diencephalic syndrome after partial surgery of optic chiasm glioma. (19489055)	Marec-Berard P.... Frappaz D.	2009
5	Diencephalic syndrome: a frequently delayed diagnosis in failure to thrive. (17405074)	Huber J.... Urban C.	2007
6	Diencephalic syndrome due to hypothalamic tumor: a model of the relationship between weight and puberty onset. (16621905)	Brauner R.... Sainte-Rose C.	2006
7	Malignant transformation of a chiasmatic pilocytic astrocytoma in a patient with diencephalic syndrome. (12612823)	van der Wal E.J.... Edwards-Brown M.	2003
8	Diencephalic syndrome of emaciation in an adult associated with a third ventricle intrinsic craniopharyngioma: case report. (12493122)	Miyoshi Y.... Nishimoto K.	2003
9	Treatment of diencephalic syndrome with chemotherapy: growth, tumor response, and long term control. (9655307)	Gropman A.L.... Finlay J.	1998
10	Vein of Galen malformation with diencephalic syndrome: a clinical pathologic report. (9853653)	Squires L.A.... Cottingham S.	1998
11	Diencephalic syndrome: clinical features and imaging findings. (9296191)	Poussaint T.Y.... Goumnerova L.	1997
12	Successful chemotherapeutic treatment of diencephalic syndrome with continued tumor presence. (10897816)	Shuper A.... Cohen I.	1996
13	Hypothalamic tumor associated with atypical forms of anorexia nervosa and diencephalic syndrome. (8274094)	Chipkevitch E.... Fernandes A.C.	1993
14	Increased energy expenditure in a patient with diencephalic syndrome. (8501572)	Vlachopapadopoulou E.... Matthews D.E.	1993
15	Diencephalic syndrome with long-term survival. (1811904)	Leary P.M.... Bonnici F.	1991
16	Diencephalic syndrome of emaciation in an adult associated with a suprasellar craniopharyngioma--a case report. (2334532)	Sharma R.R.... Lad S.D.	1990
17	Paramedian diencephalic syndrome. Report of 3 cases. (2266088)	Sabharwal R.K.... Anjaneyulu A.	1990
18	Chemotherapeutic treatment of the diencephalic syndrome. A case report. (2702579)	Chamberlain M.C.... Levin V.A.	1989
19	Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome. (2986047)	Nagashima K.... Ishida Y.	1985
20	Spasmus nutans as a presenting sign of diencephalic syndrome. (4032143)	Garty B.Z.... Bauman B.	1985
21	Hypothalamic polar spongioblastoma associated with the diencephalic syndrome. Ultrastructural demonstration of a neuro-endocrine organization. (6426152)	de ChadarAcvian J.P.... Hollenberg R.D.	1984
22	Diencephalic syndrome secondary to intracranial astrocytoma in a dog. (7341556)	Nelson R.W.... Miller J.B.	1981
23	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
24	Diencephalic syndrome and its relation to opticochiasmatic glioma: review of twelve cases. (460550)	DeSousa A.L.... Fitzgerald J.	1979
25	Increased urinary catecholamines in an infant with the diencephalic syndrome. (686781)	Karpathios T.... Thomaidis T.	1978
26	Diencephalic syndrome revisited. (1245953)	Burr I.M.... Butler I.J.	1976
27	Brain scanning in the diencephalic syndrome. (4850822)	Pelc S.... Decostre P.	1974
28	Diencephalic syndrome. Long-term survival. (4683956)	Markesbery W.R.... McDonald J.V.	1973
29	Diencephalic syndrome. (4778929)	Smith K.R.	1973
30	The diencephalic syndrome of emaciation. A case report. (5019153)	HAoger A.	1972
31	The diencephalic syndrome in infants. A review in relation to optic nerve glioma. (4659145)	Pelc S.	1972
32	Diencephalic syndrome of infantile emaciation. Analysis of literature and report of further 3 cases. (5034666)	Addy D.P.... Hudson F.P.	1972
33	Paradoxical growth in a patient with the diencephalic syndrome. (5422123)	Fishman M.A.... Peake G.T.	1970
34	Secretion of growth hormone in the diencephalic syndrome of childhood. (5444580)	Pimstone B.L.... Eale D.	1970
35	Diencephalic syndrome. Two case reports. (5243852)	Albrand O.W.... Youmans J.R.	1968
36	Diencephalic syndrome of emaciation: a case report with special reference to the mechanism of hypothalamic dysfunction. (4299901)	Imai M.... Suwa S.	1968
37	Nevus unius lateralis, brain tumor, and diencephalic syndrome. (5297879)	Meyerson L.B.	1967
38	The diencephalic syndrome. (6059326)	Ingram T.T.	1967
39	Marasmus and the diencephalic syndrome. (5905075)	Diamond E.F.... Averick N.	1966
40	Diencephalic syndrome of emaciation. A caase report. (5294758)	Chynn K.Y.... Sharkey R.	1965
41	Failure to thrive: the diencephalic syndrome of infancy and childhood. (5294539)	Smith K.R.... McAlister W.H.	1965
42	DIENCEPHALIC SYNDROME OF INFANCY PRESENTING WITH ANOREXIA AND EMACIATION: REPORT OF CASE. (14280553)	PITLYK P.J.... Johnson G.M.	1965
43	The diencephalic syndrome of infancy: report of two cases. (5844118)	Torrey E.F.... Uyeda C.I.	1965
44	DIENCEPHALIC SYNDROME OF EARLY INFANCY--CASE REPORT. (14171398)	Cussen L.J.	1964
45	Diencephalic syndrome of emaciation. Report of a case. (14010511)	AAS K.	1963
46	Congenital hyperpituitarism of hypothalamic origin: a new diencephalic syndrome with endocrine manifestations. (14444640)	SEIP M.	1959
47	A diencephalic syndrome of early infancy. (13482562)	DODS L.	1957
48	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
49	The hypertensive diencephalic syndrome (Page). (18879068)	VAN BUCHEM F.S.	1948
50	A test for the presence of the hypertensive diencephalic syndrome using histamine. (18890054)	SCHROEDER H.A.... GOLDMAN M.L.	1948

Genes related to Diencephalic Syndrome

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals
See all sources

Genes related to Diencephalic Syndrome:

- Elite gene

id	Symbol	Products	Description	Score	Implication
1	LEP		leptin	30.00	GeneCards inferred via : Publications (show sections)

Products for genes related to Diencephalic Syndrome disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	1	-	1	1
2	Novus Biologicals	1	1	1	-

Variations for Diencephalic Syndrome

Expression for genes affiliated with Diencephalic Syndrome

Sources:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
See all sources

Expression patterns in normal tissues for genes affiliated with Diencephalic Syndrome

Search GEO for disease gene expression data for Diencephalic Syndrome.

Pathways for genes affiliated with Diencephalic Syndrome

Compounds for genes affiliated with Diencephalic Syndrome

GO Terms for genes affiliated with Diencephalic Syndrome

Products for genes affiliated with Diencephalic Syndrome

Antibodies
Proteins
Lysates

Antibodies
Proteins
Kits and Assays

Sources for Diencephalic Syndrome

¹antibodies-online

²BioGPS

³BitterDB

⁴CDC

⁵Cell Signaling Technology

⁶ClinicalTrials

⁷Clinvar

⁸dbSNP

⁹Disease Ontology

¹⁰diseasecard

¹¹DISEASES

¹²DrugBank

¹³EMD Millipore

¹⁴ExPASy

¹⁵FMA

¹⁶Gene Expression Omnibus DataSets

¹⁷Gene Ontology

¹⁸GeneCards

¹⁹GeneDecks

²⁰GeneReviews

²¹GeneTests

²²Genetics Home Reference

²³GTR

²⁴HGMD

²⁵HMDB

²⁶ICD10

²⁷ICD10 via Orphanet

²⁸ICD9CM

²⁹IUPHAR

³⁰KEGG

³¹LifeMap Discovery®

³²MalaCards

³³MedlinePlus

³⁴MeSH

³⁵MESH via Orphanet

³⁶MGI

³⁷NCBI BioSystems Database

³⁸NCBI Bookshelf

³⁹NCIt

⁴⁰NDF-RT

⁴¹NIH Clinical Center

⁴²NIH Rare Diseases

⁴³NINDS

⁴⁴Novoseek

⁴⁵Novus Biologicals

⁴⁶OMIM

⁴⁷OMIM via Orphanet

⁴⁸Orphanet

⁴⁹PathCards

⁵⁰PharmGKB

⁵¹PubMed

⁵²QIAGEN

⁵³R&D Systems

⁵⁴Reactome

⁵⁵SinoBiological

⁵⁶SNOMED-CT

⁵⁷SNOMED-CT via Orphanet

⁵⁸The Human Phenotype Ontology

⁵⁹Thomson Reuters

⁶⁰Tocris Bioscience

⁶¹UMLS

⁶²UMLS via Orphanet

⁶³UniProtKB/Swiss-Prot

⁶⁴Wikipedia

MCID: DNC004 MIFTS: 29	Diencephalic Syndrome malady Rare diseases, Neuronal diseases, Endocrine diseases categories
27 symptoms, 1 gene, 5 tissues, 22 related diseases, clinical trials Download this MalaCard Expand all tables

Diencephalic Syndrome malady