MCID: DNC004
MIFTS: 37

Diencephalic Syndrome

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for Diencephalic Syndrome

MalaCards integrated aliases for Diencephalic Syndrome:

Name: Diencephalic Syndrome 49 55 69
Diencephalic Syndrome of Emaciation 49 55
Diencephalic Syndrome of Childhood 49 55
Russell Diencephalic Cachexia 49 55
Diencephalic Cachexia 49 55
Russell Syndrome 49 55
Diencephalic Syndrome of Infancy 69
Russell-Silver Syndrome 69

Characteristics:

Orphanet epidemiological data:

55
diencephalic syndrome
Inheritance: Not applicable; Age of onset: Childhood,Infancy; Age of death: adolescent,early childhood,late childhood,young Adult;

Classifications:

Orphanet: 55  
Rare endocrine diseases


Summaries for Diencephalic Syndrome

NIH Rare Diseases : 49 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 maternal uniparental disomy of chromosome 7, and has symptoms including long penis, everted lower lip vermilion and hydrocephalus. The drugs Anastrozole and Steroid Synthesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include brain, hypothalamus and thalamus.

Wikipedia : 72 Diencephalic syndrome, diencephalic syndrome of emaciation or Russell\'s syndrome is a rare neurological... more...

Related Diseases for Diencephalic Syndrome

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 12.5
2 silver-russell syndrome due to maternal uniparental disomy of chromosome 7 12.0
3 silver-russell syndrome due to 7p11.2p13 microduplication 12.0
4 silver-russell syndrome due to maternal uniparental disomy of chromosome 11 12.0
5 silver-russell syndrome due to an imprinting defect of 11p15 11.8
6 silver-russell syndrome due to 11p15 microduplication 11.8
7 silver-russell syndrome due to a point mutation 11.8
8 astrocytoma 10.1
9 mental retardation, x-linked, syndromic, snyder-robinson type 10.1
10 beckwith-wiedemann syndrome 10.1
11 glioma 10.0
12 craniopharyngioma 9.9
13 pilomyxoid astrocytoma 9.9
14 aging 9.9
15 growth hormone deficiency 9.9
16 epilepsy 9.8
17 pilocytic astrocytoma 9.8
18 gigantism 9.8
19 cystic fibrosis 9.8
20 temple syndrome 9.8
21 xp22.13p22.2 duplication syndrome 9.8
22 xq12-q13.3 duplication syndrome 9.8
23 epidermoid cysts 9.7
24 neurofibromatosis, type iv, of riccardi 9.7
25 neurodegeneration with brain iron accumulation 2a 9.7
26 macular degeneration, age-related, 1 9.7
27 bulimia nervosa 2 9.7
28 striatal degeneration, autosomal dominant 2 9.7
29 congenital hypothyroidism 9.7
30 marasmus 9.7
31 hypothyroidism 9.7
32 neuroaxonal dystrophy 9.7
33 hyperpituitarism 9.7
34 cervicitis 9.7
35 hypothalamic neoplasm 9.7
36 optic nerve glioma 9.7
37 juvenile pilocytic astrocytoma 9.7
38 lipodystrophy 9.7
39 germ cells tumors 9.7
40 optic pathway glioma 9.7
41 precocious puberty 9.7
42 spasmus nutans 9.7
43 down syndrome 9.6
44 insulin-like growth factor i 9.6
45 heart disease 9.6
46 dystonia 9.6
47 conjunctivitis 9.6

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



Diseases related to Diencephalic Syndrome

Symptoms & Phenotypes for Diencephalic Syndrome

Human phenotypes related to Diencephalic Syndrome:

55 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 long penis 55 31 frequent (33%) Frequent (79-30%) HP:0000040
2 everted lower lip vermilion 55 31 frequent (33%) Frequent (79-30%) HP:0000232
3 hydrocephalus 55 31 frequent (33%) Frequent (79-30%) HP:0000238
4 macrotia 55 31 frequent (33%) Frequent (79-30%) HP:0000400
5 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
6 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
7 behavioral abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0000708
8 abnormality of the hypothalamus-pituitary axis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000864
9 hyperhidrosis 55 31 frequent (33%) Frequent (79-30%) HP:0000975
10 large hands 55 31 occasional (7.5%) Occasional (29-5%) HP:0001176
11 cachexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0004326
12 neoplasm of the nervous system 55 31 hallmark (90%) Very frequent (99-80%) HP:0004375
13 abnormality of movement 55 31 frequent (33%) Frequent (79-30%) HP:0100022
14 decreased body weight 55 Very frequent (99-80%)

Drugs & Therapeutics for Diencephalic Syndrome

Drugs for Diencephalic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anastrozole Approved, Investigational 120511-73-1 2187
2 Steroid Synthesis Inhibitors
3 Hormone Antagonists
4 Hormones
5 Hormones, Hormone Substitutes, and Hormone Antagonists
6 Estrogen Antagonists
7 Estrogens
8 Antineoplastic Agents, Hormonal
9 Aromatase Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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 Anastrozole;Placebo

Search NIH Clinical Center for Diencephalic Syndrome

Genetic Tests for Diencephalic Syndrome

Anatomical Context for Diencephalic Syndrome

MalaCards organs/tissues related to Diencephalic Syndrome:

38
Brain, Hypothalamus, Thalamus, Eye, Skin, Pituitary, Bone

Publications for Diencephalic Syndrome

Articles related to Diencephalic Syndrome:

(show top 50) (show all 96)
# Title Authors Year
1
Targeted therapy for infants with diencephalic syndrome: A case report and review of management strategies. ( 29369501 )
2018
2
Diencephalic syndrome: a rare cause of failure to thrive. ( 28687692 )
2017
3
Child Neurology: Diencephalic syndrome-like presentation of a cervicomedullary brainstem tumor. ( 27872228 )
2016
4
Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants. ( 25729396 )
2015
5
An infant with hyperalertness, hyperkinesis, and failure to thrive: a rare diencephalic syndrome due to hypothalamic anaplastic astrocytoma. ( 26337554 )
2015
6
Pilomyxoid astrocytoma presenting as diencephalic syndrome. ( 25672198 )
2014
7
The role of leptin in diencephalic syndrome. ( 24366994 )
2014
8
Favorable survival and metabolic outcome for children with diencephalic syndrome using a radiation-sparing approach. ( 24218181 )
2014
9
Diencephalic Syndrome in Childhood Craniopharyngioma-Results of German Multicenter Studies on 485 Long-term Survivors of Childhood Craniopharyngioma. ( 25077898 )
2014
10
Diencephalic syndrome as sign of tumor progression in a child with neurofibromatosis type 1 and optic pathway glioma: a case report. ( 23615855 )
2013
11
Delayed presentation of diencephalic syndrome associated with leptomeningeal dissemination in a child. ( 23774711 )
2013
12
Sustained response to weekly vinblastine in 2 children with pilomyxoid astrocytoma associated with diencephalic syndrome. ( 23042016 )
2013
13
Intermediate pilomyxoid astrocytoma and diencephalic syndrome: imaging findings. ( 23052462 )
2012
14
Successful treatment with a low-dose cisplatin--etoposide regimen for patients with diencephalic syndrome. ( 22717669 )
2012
15
Diencephalic syndrome due to astrocytoma in three infants with failure to thrive. ( 21955018 )
2011
16
Improvement of diencephalic syndrome after partial surgery of optic chiasm glioma. ( 19489055 )
2009
17
Diencephalic syndrome: a frequently delayed diagnosis in failure to thrive. ( 17405074 )
2007
18
Diencephalic syndrome due to hypothalamic tumor: a model of the relationship between weight and puberty onset. ( 16621905 )
2006
19
Diencephalic syndrome: a cause of failure to thrive and a model of partial growth hormone resistance. ( 15930202 )
2005
20
Diencephalic syndrome: a rare and easily overlooked cause of failure to thrive. ( 15471306 )
2004
21
Diencephalic syndrome of emaciation in an adult associated with a third ventricle intrinsic craniopharyngioma: case report. ( 12493122 )
2003
22
Clinics in diagnostic imaging (81). Hypothalamic glioma with diencephalic syndrome. ( 12762565 )
2003
23
Malignant transformation of a chiasmatic pilocytic astrocytoma in a patient with diencephalic syndrome. ( 12612823 )
2003
24
Suprasellar germ cell tumor presenting as diencephalic syndrome and precocious puberty. ( 12705371 )
2003
25
Russell's diencephalic syndrome. ( 11552038 )
2001
26
An uncommon and often overlooked cause of failure to thrive: diencephalic syndrome. ( 10776962 )
2000
27
Treatment of diencephalic syndrome with chemotherapy: growth, tumor response, and long term control. ( 9655307 )
1998
28
Vein of Galen malformation with diencephalic syndrome: a clinical pathologic report. ( 9853653 )
1998
29
Diencephalic syndrome and disseminated juvenile pilocytic astrocytomas of the hypothalamic-optic chiasm region. ( 9210720 )
1997
30
Diencephalic syndrome: clinical features and imaging findings. ( 9296191 )
1997
31
Successful chemotherapeutic treatment of diencephalic syndrome with continued tumor presence. ( 10897816 )
1996
32
Paramedian diencephalic syndrome. ( 7843943 )
1994
33
von Recklinghausen's disease with diencephalic syndrome in an adult. Case report. ( 8113871 )
1994
34
Increased energy expenditure in a patient with diencephalic syndrome. ( 8501572 )
1993
35
Hypothalamic tumor associated with atypical forms of anorexia nervosa and diencephalic syndrome. ( 8274094 )
1993
36
Diencephalic syndrome with long-term survival. ( 1811904 )
1991
37
Paramedian diencephalic syndrome. Report of 3 cases. ( 2266088 )
1990
38
Diencephalic syndrome of emaciation in an adult associated with a suprasellar craniopharyngioma--a case report. ( 2334532 )
1990
39
Diencephalic syndrome following cervical spinal cord trauma. ( 2718804 )
1989
40
Chemotherapeutic treatment of the diencephalic syndrome. A case report. ( 2702579 )
1989
41
The paramedian diencephalic syndrome: a dynamic phenomenon. ( 3564093 )
1987
42
Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome. ( 2986047 )
1985
43
Spasmus nutans as a presenting sign of diencephalic syndrome. ( 4032143 )
1985
44
Diencephalic syndrome of emaciation (Russell's syndrome). Long-term survival. ( 3992458 )
1985
45
Hypothalamic polar spongioblastoma associated with the diencephalic syndrome. Ultrastructural demonstration of a neuro-endocrine organization. ( 6426152 )
1984
46
Diencephalic syndrome due to a suprasellar epidermoid cyst. Case report. ( 6661939 )
1983
47
Cherry red macular degeneration. A clinical manifestation of the diencephalic syndrome? ( 7180459 )
1982
48
Diencephalic syndrome of emaciation (Russell's syndrome). ( 6803375 )
1982
49
Diencephalic syndrome secondary to intracranial astrocytoma in a dog. ( 7341556 )
1981
50
Inappropriate growth hormone release in the diencephalic syndrome of childhood: case report and 4 year endocrinological follow-up. ( 7438472 )
1980

Variations for Diencephalic Syndrome

Expression for Diencephalic Syndrome

Search GEO for disease gene expression data for Diencephalic Syndrome.

Pathways for Diencephalic Syndrome

GO Terms for Diencephalic Syndrome

Sources for Diencephalic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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