MCID: DNC004
MIFTS: 31

Diencephalic Syndrome malady

Categories: Rare diseases, Neuronal diseases, Endocrine diseases

Aliases & Classifications for Diencephalic Syndrome

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Sources:
65UMLS, 45NIH Rare Diseases, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Diencephalic Syndrome:

Name: Diencephalic Syndrome 45 51 65
Diencephalic Syndrome of Emaciation 51
Diencephalic Syndrome of Childhood 51
Diencephalic Syndrome of Infancy 65
 
Russell Diencephalic Cachexia 51
Russell-Silver Syndrome 65
Diencephalic Cachexia 51
Russell Syndrome 51

Characteristics:

Orphanet epidemiological data:

51
diencephalic syndrome:
Age of onset: Childhood

Classifications:



External Ids:

Orphanet51 1672
ICD10 via Orphanet28 C72.8
UMLS via Orphanet66 C0342436
UMLS65 C0271889, C0342436

Summaries for Diencephalic Syndrome

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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

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



Diseases related to diencephalic syndrome

Symptoms for Diencephalic Syndrome

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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

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Interventional clinical trials:

Search ClinicalTrials, 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:

33
Skin, Pituitary, Hypothalamus, Brain, Endothelial, Prostate, T cells

Animal Models for Diencephalic Syndrome or affiliated genes

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Publications for Diencephalic Syndrome

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Articles related to Diencephalic Syndrome:

(show top 50)    (show all 93)
idTitleAuthorsYear
1
An infant with hyperalertness, hyperkinesis, and failure to thrive: a rare diencephalic syndrome due to hypothalamic anaplastic astrocytoma. (26337554)
2015
2
Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants. (25729396)
2015
3
The role of leptin in diencephalic syndrome. (24366994)
2014
4
Pilomyxoid astrocytoma presenting as diencephalic syndrome. (25672198)
2014
5
Diencephalic syndrome as sign of tumor progression in a child with neurofibromatosis type 1 and optic pathway glioma: a case report. (23615855)
2013
6
Diencephalic syndrome due to astrocytoma in three infants with failure to thrive. (21955018)
2011
7
Improvement of diencephalic syndrome after partial surgery of optic chiasm glioma. (19489055)
2009
8
Diencephalic syndrome: a frequently delayed diagnosis in failure to thrive. (17405074)
2007
9
Diencephalic syndrome due to hypothalamic tumor: a model of the relationship between weight and puberty onset. (16621905)
2006
10
Malignant transformation of a chiasmatic pilocytic astrocytoma in a patient with diencephalic syndrome. (12612823)
2003
11
Diencephalic syndrome of emaciation in an adult associated with a third ventricle intrinsic craniopharyngioma: case report. (12493122)
2003
12
Treatment of diencephalic syndrome with chemotherapy: growth, tumor response, and long term control. (9655307)
1998
13
Vein of Galen malformation with diencephalic syndrome: a clinical pathologic report. (9853653)
1998
14
Diencephalic syndrome: clinical features and imaging findings. (9296191)
1997
15
Successful chemotherapeutic treatment of diencephalic syndrome with continued tumor presence. (10897816)
1996
16
Hypothalamic tumor associated with atypical forms of anorexia nervosa and diencephalic syndrome. (8274094)
1993
17
Increased energy expenditure in a patient with diencephalic syndrome. (8501572)
1993
18
Diencephalic syndrome with long-term survival. (1811904)
1991
19
Diencephalic syndrome of emaciation in an adult associated with a suprasellar craniopharyngioma--a case report. (2334532)
1990
20
Paramedian diencephalic syndrome. Report of 3 cases. (2266088)
1990
21
Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome. (2986047)
1985
22
Spasmus nutans as a presenting sign of diencephalic syndrome. (4032143)
1985
23
Hypothalamic polar spongioblastoma associated with the diencephalic syndrome. Ultrastructural demonstration of a neuro-endocrine organization. (6426152)
1984
24
Diencephalic syndrome of emaciation (Russell's syndrome). (6803375)
1982
25
Diencephalic syndrome secondary to intracranial astrocytoma in a dog. (7341556)
1981
26
Inappropriate growth hormone release in the diencephalic syndrome of childhood: case report and 4 year endocrinological follow-up. (7438472)
1980
27
Diencephalic syndrome and its relation to opticochiasmatic glioma: review of twelve cases. (460550)
1979
28
Increased urinary catecholamines in an infant with the diencephalic syndrome. (686781)
1978
29
Diencephalic syndrome revisited. (1245953)
1976
30
Brain scanning in the diencephalic syndrome. (4850822)
1974
31
The diencephalic syndrome of emaciation. A case report. (5019153)
1972
32
The diencephalic syndrome in infants. A review in relation to optic nerve glioma. (4659145)
1972
33
Diencephalic syndrome of infantile emaciation. Analysis of literature and report of further 3 cases. (5034666)
1972
34
Paradoxical growth in a patient with the diencephalic syndrome. (5422123)
1970
35
Secretion of growth hormone in the diencephalic syndrome of childhood. (5444580)
1970
36
Diencephalic syndrome. Two case reports. (5243852)
1968
37
Diencephalic syndrome of emaciation: a case report with special reference to the mechanism of hypothalamic dysfunction. (4299901)
1968
38
Nevus unius lateralis, brain tumor, and diencephalic syndrome. (5297879)
1967
39
The diencephalic syndrome. (6059326)
1967
40
Marasmus and the diencephalic syndrome. (5905075)
1966
41
Diencephalic syndrome of emaciation. A caase report. (5294758)
1965
42
Failure to thrive: the diencephalic syndrome of infancy and childhood. (5294539)
1965
43
DIENCEPHALIC SYNDROME OF INFANCY PRESENTING WITH ANOREXIA AND EMACIATION: REPORT OF CASE. (14280553)
1965
44
The diencephalic syndrome of infancy: report of two cases. (5844118)
1965
45
DIENCEPHALIC SYNDROME OF EARLY INFANCY--CASE REPORT. (14171398)
1964
46
Diencephalic syndrome of emaciation. Report of a case. (14010511)
1963
47
Congenital hyperpituitarism of hypothalamic origin: a new diencephalic syndrome with endocrine manifestations. (14444640)
1959
48
A diencephalic syndrome of early infancy. (13482562)
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)
1954
50
The hypertensive diencephalic syndrome (Page). (18879068)
1948

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet