MCID: DNC004
MIFTS: 29

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, hypothalamus and pituitary.

Related Diseases for Diencephalic Syndrome

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

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1silver-russell syndrome12.6
2silver-russell syndrome due to 7p11.2p13 microduplication12.4
3silver-russell syndrome due to an imprinting defect of 11p1512.2
4silver-russell syndrome due to 11p15 microduplication12.2
5silver-russell syndrome due to maternal uniparental disomy of chromosome 1112.2
6silver-russell syndrome due to a point mutation12.2
7silver-russell syndrome due to maternal uniparental disomy of chromosome 712.2
8mercury poisoning10.8
9lymphoma10.3
10prostate cancer10.2
11colorectal cancer10.2
12prostatitis10.2
13gastroenteritis10.2
14gingivitis10.2
15pheochromocytoma10.0
16rheumatoid arthritis10.0
17myocardial infarction10.0
18lung cancer10.0
19allergic rhinitis10.0
20sickle cell anemia10.0
21angelman syndrome10.0
22neurofibromatosis, type 110.0
23glanzmann thrombasthenia10.0
24lipoma10.0
25arthritis10.0
26gastric cancer10.0
27hepatitis10.0
28leber congenital amaurosis10.0
29malignant glioma10.0
30myasthenia gravis10.0
31metabolic acidosis10.0
32phaeochromocytoma10.0
33pleomorphic lipoma10.0
34pleural tuberculosis10.0
35steatorrhea10.0
36nephrotic syndrome10.0
37esophagitis10.0
38oligohydramnios10.0
39shigellosis10.0
40conduct disorder10.0
41tuberous sclerosis10.0
42thoracic aortic aneurysm10.0
43sclerosing cholangitis10.0
44ebstein anomaly10.0
45ventricular septal defect10.0
46syringoma10.0
47nocardiosis10.0
48adenocarcinoma10.0
49thymoma10.0
50aortic aneurysm10.0

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

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, Hypothalamus, Pituitary, Brain, T cells, Endothelial, Liver

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
Sipa1 promoter polymorphism predicts risk and metastasis of lung cancer in Chinese. (23661532)
2013
2
Experiences of fecal incontinence in people with inflammatory bowel disease: self-reported experiences among a community sample. (23624884)
2013
3
The association between APOE I/4 and Alzheimer-type dementia among memory clinic patients is confined to those with a higher education. The DESCRIPA Study. (23380990)
2013
4
Sphingosine kinase 1 knockdown reduces insulin synthesis and secretion in a rat insulinoma cell line. (22155656)
2012
5
Xerophthalmia. (23008038)
2012
6
Relationship between MAP3K5 and Epstein-Barr virus-encoded miR-BART22 expression in nasopharyngeal carcinoma]. (21764682)
2011
7
PAX2 expression in Wilms tumors and other childhood neoplasms. (21730820)
2011
8
p53-dependent regulation of autophagy protein LC3 supports cancer cell survival under prolonged starvation. (20937856)
2010
9
Cocaine abuse in older adults: an underscreened cohort. (20370870)
2010
10
Acquired senile retinoschisis of the peripheral retina imaged by spectral domain optical coherence tomography: a case report. (20491050)
2010
11
Rickettsia in synanthropic and domestic animals and their hosts from two areas of low endemicity for Brazilian spotted fever in the eastern region of Minas Gerais, Brazil. (21118939)
2010
12
Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis. (19291799)
2009
13
Neuropsychological interventions for memory impairment and the role of single-case design methodologies. (19588539)
2009
14
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. (18487244)
2008
15
Antioxidant status of erythrocytes and their response to oxidative challenge in humans with argemone oil poisoning. (18423507)
2008
16
Lumbar subcutaneous shunt: a novel technique for therapeutic decision making in normal pressure hydrocephalus (NPH) and benign intracranial hypertension (BIH). (19016120)
2008
17
New insights into type II germ cell tumor pathogenesis based on studies of patients with various forms of disorders of sex development (DSD). (18403106)
2008
18
Risk of testicular germ cell tumors and polymorphisms in the insulin-like growth factor genes. (18349294)
2008
19
An improved Graves' disease model established by using in vivo electroporation exhibited long-term immunity to hyperthyroidism in BALB/c mice. (17255207)
2007
20
TAK1-binding protein 1 is a pseudophosphatase. (16879102)
2006
21
Conformational states and dynamics of rhodopsin in micelles and bilayers. (16634635)
2006
22
Infection of human dendritic cells with recombinant vaccinia virus MVA reveals general persistence of viral early transcription but distinct maturation-dependent cytopathogenicity. (16595141)
2006
23
Association analysis of endothelial nitric oxide synthase gene polymorphism with primary hypertension in a Singapore population. (17024134)
2006
24
Upper and lower urinary tract evaluation of 104 patients with myelomeningocele without adequate urological management. (16758253)
2006
25
Identification of a novel type II classical cadherin: rat cadherin19 is expressed in the cranial ganglia and Schwann cell precursors during development. (15580626)
2005
26
Detection of chlorinated DNA and RNA nucleosides by HPLC coupled to tandem mass spectrometry as potential biomarkers of inflammation. (16260376)
2005
27
Microglial activation in chronic neurodegenerative diseases: roles of apoptotic neurons and chronic stimulation. (15850664)
2005
28
Identification of a heterodimer-specific epitope present in human chorionic gonadotrophin (hCG) using a monoclonal antibody that can distinguish between hCG and human LH. (15956355)
2005
29
Pulsatile gonadotrophin releasing hormone for ovulation induction in subfertility associated with polycystic ovary syndrome. (14973957)
2004
30
Lateral shelf acetabuloplasty in the early stage of Legg-CalvAc-Perthes disease with special emphasis on the remaining growth of the acetabulum: a preliminary report. (15091254)
2004
31
Making psychiatric sense of sand: a case of delusional disorder in Saudi Arabia. (15446724)
2004
32
Regulation of ATR substrate selection by Rad17-dependent loading of Rad9 complexes onto chromatin. (11799063)
2002
33
Treatment with soluble interleukin-15Ralpha exacerbates intracellular parasitic infection by blocking the development of memory CD8+ T cell response. (12045244)
2002
34
Prothrombin time inhibition detected with recombinant but not with conventional thromboplastins in two patients with high-titre IgM and moderate-titre IgA anticardiolipin antibodies. (11422233)
2001
35
Autologous graft-versus-host disease induction in advanced breast cancer: role of peripheral blood progenitor cells. (11076645)
2000
36
nArgBP2, a novel neural member of ponsin/ArgBP2/vinexin family that interacts with synapse-associated protein 90/postsynaptic density-95-associated protein (SAPAP). (10521485)
1999
37
Regulation of platelet plasma membrane Ca2+-ATPase by cAMP-dependent and tyrosine phosphorylation. (9182531)
1997
38
The role of MR imaging in the diagnosis of alveolar soft part sarcoma: a report of 10 cases. (7644939)
1995
39
Malakoplakia in the gastrointestinal tract of a liver transplant recipient. (7770942)
1995
40
Infection with Toxoplasma gondii does not Alter TNFalpha and IL-6 Secretion by A human Astrocytoma Cell Line. (18472955)
1994
41
Coronary angiographic changes with lovastatin therapy. The Monitored Atherosclerosis Regression Study (MARS). (8214993)
1993
42
Inclusion body myositis with abundant ring fibers. (1337419)
1992
43
Role of the endothelium-dependent relaxing factor nitric oxide on renal function. (1627761)
1992
44
Human aldehyde dehydrogenase. Activity with aldehyde metabolites of monoamines, diamines, and polyamines. (2071588)
1991
45
Clone pAT133 identifies a gene that encodes another human member of a class of growth factor-induced genes with almost identical zinc-finger domains. (1658795)
1991
46
Clearance of branched chain amino acids by peritoneal dialysis in maple syrup urine disease. (1982835)
1990
47
Non-functioning adrenal carcinoma. (3709592)
1986
48
Congenital pulmonary lymphangiectasis. A case complicated by chylothorax. (6848293)
1983
49
Choanal atresia and associated anomalies. (7373479)
1980
50
SECOND ATTACKS OF MENINGOCOCCAL MENINGITIS. (14347978)
1965

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