MCID: DNC004
MIFTS: 36

Diencephalic Syndrome

Categories: Endocrine diseases, Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Diencephalic Syndrome

MalaCards integrated aliases for Diencephalic Syndrome:

Name: Diencephalic Syndrome 54 60 74
Diencephalic Syndrome of Emaciation 54 60
Diencephalic Syndrome of Childhood 54 60
Russell Diencephalic Cachexia 54 60
Diencephalic Cachexia 54 60
Russell Syndrome 54 60
Diencephalic Syndrome of Infancy 74
Russell-Silver Syndrome 74

Characteristics:

Orphanet epidemiological data:

60
diencephalic syndrome
Inheritance: Not applicable; Age of onset: Childhood,Infancy; Age of death: adolescent,early childhood,late childhood,young Adult;

Classifications:

Orphanet: 60  
Rare endocrine diseases


Summaries for Diencephalic Syndrome

NIH Rare Diseases : 54 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.

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. The drugs Anastrozole and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include brain, hypothalamus and eye, and related phenotypes are behavioral abnormality and cachexia

Wikipedia : 77 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 top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 12.7
2 silver-russell syndrome due to 7p11.2p13 microduplication 12.2
3 silver-russell syndrome due to maternal uniparental disomy of chromosome 7 12.2
4 silver-russell syndrome due to maternal uniparental disomy of chromosome 11 12.2
5 silver-russell syndrome due to an imprinting defect of 11p15 12.0
6 silver-russell syndrome due to 11p15 microduplication 12.0
7 silver-russell syndrome due to a point mutation 12.0
8 astrocytoma 10.3
9 glioma 10.2
10 beckwith-wiedemann syndrome 10.2
11 cystadenoma 10.1
12 craniopharyngioma 10.1
13 pilomyxoid astrocytoma 10.1
14 chromosomal triplication 10.0
15 growth hormone deficiency 10.0
16 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.0
17 epilepsy 10.0
18 gigantism 10.0
19 cystic fibrosis 9.9
20 insulin-like growth factor i 9.9
21 mayer-rokitansky-kuster-hauser syndrome 9.9
22 temple syndrome 9.9
23 12q14 microdeletion syndrome 9.9
24 mosaic trisomy 7 9.9
25 xq12-q13.3 duplication syndrome 9.9
26 epidermoid cysts 9.8
27 neurofibromatosis, type i 9.8
28 neurofibromatosis, type iv, of riccardi 9.8
29 neurodegeneration with brain iron accumulation 2a 9.8
30 macular degeneration, age-related, 1 9.8
31 anorexia nervosa 9.8
32 marasmus 9.8
33 neuroaxonal dystrophy 9.8
34 hyperpituitarism 9.8
35 grade iii astrocytoma 9.8
36 hypothalamic neoplasm 9.8
37 optic nerve glioma 9.8
38 germ cells tumors 9.8
39 optic pathway glioma 9.8
40 pilocytic astrocytoma 9.8
41 precocious puberty 9.8
42 spasmus nutans 9.8
43 cornelia de lange syndrome 1 9.8
44 cri-du-chat syndrome 9.8
45 split-hand/foot malformation 1 9.8
46 down syndrome 9.8
47 cryptorchidism, unilateral or bilateral 9.8
48 three m syndrome 1 9.8
49 light fixation seizure syndrome 9.8
50 alacrima, achalasia, and mental retardation syndrome 9.8

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:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 behavioral abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0000708
2 cachexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004326
3 neoplasm of the nervous system 60 33 hallmark (90%) Very frequent (99-80%) HP:0004375
4 abnormality of the hypothalamus-pituitary axis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000864
5 hydrocephalus 60 33 frequent (33%) Frequent (79-30%) HP:0000238
6 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
7 hyperhidrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000975
8 macrotia 60 33 frequent (33%) Frequent (79-30%) HP:0000400
9 abnormality of movement 60 33 frequent (33%) Frequent (79-30%) HP:0100022
10 everted lower lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000232
11 long penis 60 33 frequent (33%) Frequent (79-30%) HP:0000040
12 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
13 large hands 60 33 occasional (7.5%) Occasional (29-5%) HP:0001176
14 decreased body weight 60 Very frequent (99-80%)

Drugs & Therapeutics for Diencephalic Syndrome

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anastrozole Approved, Investigational Not Applicable 120511-73-1 2187
2 Hormone Antagonists Not Applicable
3 Steroid Synthesis Inhibitors Not Applicable
4 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
5 Estrogens Not Applicable
6 Antineoplastic Agents, Hormonal Not Applicable
7 Estrogen Receptor Antagonists Not Applicable
8 Aromatase Inhibitors Not Applicable
9 Estrogen Antagonists Not Applicable
10 Hormones Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes Unknown status NCT01842659 Not Applicable
2 Aromatase Inhibitor in Bone Maturation, Children With Silver Russell or Prader-Willi Syndrome Unknown status NCT01520467 Not Applicable Anastrozole;Placebo
3 Can Epimutations be Inherited? How to Manage Patients With Imprinting-related Diseases Who Wish to Become Parents Completed NCT02859688
4 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Diencephalic Syndrome

Genetic Tests for Diencephalic Syndrome

Anatomical Context for Diencephalic Syndrome

MalaCards organs/tissues related to Diencephalic Syndrome:

42
Brain, Hypothalamus, Eye, Skin, Thalamus, Pituitary, Bone

Publications for Diencephalic Syndrome

Articles related to Diencephalic Syndrome:

(show top 50) (show all 99)
# Title Authors Year
1
Diencephalic Syndrome as Presentation of Giant Childhood Craniopharyngioma: Management Review. ( 30937076 )
2018
2
Targeted therapy for infants with diencephalic syndrome: A case report and review of management strategies. ( 29369501 )
2018
3
A case of diencephalic syndrome presenting with isolated lipodystrophy. ( 29994870 )
2018
4
Diencephalic syndrome: a rare cause of failure to thrive. ( 28687692 )
2017
5
Child Neurology: Diencephalic syndrome-like presentation of a cervicomedullary brainstem tumor. ( 27872228 )
2016
6
An infant with hyperalertness, hyperkinesis, and failure to thrive: a rare diencephalic syndrome due to hypothalamic anaplastic astrocytoma. ( 26337554 )
2015
7
Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants. ( 25729396 )
2015
8
Pilomyxoid astrocytoma presenting as diencephalic syndrome. ( 25672198 )
2014
9
Diencephalic syndrome in childhood craniopharyngioma--results of German multicenter studies on 485 long-term survivors of childhood craniopharyngioma. ( 25077898 )
2014
10
Favorable survival and metabolic outcome for children with diencephalic syndrome using a radiation-sparing approach. ( 24218181 )
2014
11
The role of leptin in diencephalic syndrome. ( 24366994 )
2014
12
Sustained response to weekly vinblastine in 2 children with pilomyxoid astrocytoma associated with diencephalic syndrome. ( 23042016 )
2013
13
Diencephalic syndrome as sign of tumor progression in a child with neurofibromatosis type 1 and optic pathway glioma: a case report. ( 23615855 )
2013
14
Delayed presentation of diencephalic syndrome associated with leptomeningeal dissemination in a child. ( 23774711 )
2013
15
Intermediate pilomyxoid astrocytoma and diencephalic syndrome: imaging findings. ( 23052462 )
2012
16
Successful treatment with a low-dose cisplatin--etoposide regimen for patients with diencephalic syndrome. ( 22717669 )
2012
17
Diencephalic syndrome due to astrocytoma in three infants with failure to thrive. ( 21955018 )
2011
18
Improvement of diencephalic syndrome after partial surgery of optic chiasm glioma. ( 19489055 )
2009
19
Diencephalic syndrome: a frequently delayed diagnosis in failure to thrive. ( 17405074 )
2007
20
Diencephalic syndrome due to hypothalamic tumor: a model of the relationship between weight and puberty onset. ( 16621905 )
2006
21
Diencephalic syndrome: a cause of failure to thrive and a model of partial growth hormone resistance. ( 15930202 )
2005
22
Diencephalic syndrome: a rare and easily overlooked cause of failure to thrive. ( 15471306 )
2004
23
Malignant transformation of a chiasmatic pilocytic astrocytoma in a patient with diencephalic syndrome. ( 12612823 )
2003
24
Diencephalic syndrome of emaciation in an adult associated with a third ventricle intrinsic craniopharyngioma: case report. ( 12493122 )
2003
25
Suprasellar germ cell tumor presenting as diencephalic syndrome and precocious puberty. ( 12705371 )
2003
26
Clinics in diagnostic imaging (81). Hypothalamic glioma with diencephalic syndrome. ( 12762565 )
2003
27
Russell's diencephalic syndrome. ( 11552038 )
2001
28
An uncommon and often overlooked cause of failure to thrive: diencephalic syndrome. ( 10776962 )
2000
29
Treatment of diencephalic syndrome with chemotherapy: growth, tumor response, and long term control. ( 9655307 )
1998
30
Vein of Galen malformation with diencephalic syndrome: a clinical pathologic report. ( 9853653 )
1998
31
Diencephalic syndrome and disseminated juvenile pilocytic astrocytomas of the hypothalamic-optic chiasm region. ( 9210720 )
1997
32
Diencephalic syndrome: clinical features and imaging findings. ( 9296191 )
1997
33
Successful chemotherapeutic treatment of diencephalic syndrome with continued tumor presence. ( 10897816 )
1996
34
Paramedian diencephalic syndrome. ( 7843943 )
1994
35
von Recklinghausen's disease with diencephalic syndrome in an adult. Case report. ( 8113871 )
1994
36
Hypothalamic tumor associated with atypical forms of anorexia nervosa and diencephalic syndrome. ( 8274094 )
1993
37
Increased energy expenditure in a patient with diencephalic syndrome. ( 8501572 )
1993
38
Diencephalic syndrome with long-term survival. ( 1811904 )
1991
39
Diencephalic syndrome of emaciation in an adult associated with a suprasellar craniopharyngioma--a case report. ( 2334532 )
1990
40
Paramedian diencephalic syndrome. Report of 3 cases. ( 2266088 )
1990
41
Chemotherapeutic treatment of the diencephalic syndrome. A case report. ( 2702579 )
1989
42
Diencephalic syndrome following cervical spinal cord trauma. ( 2718804 )
1989
43
The paramedian diencephalic syndrome: a dynamic phenomenon. ( 3564093 )
1987
44
Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome. ( 2986047 )
1985
45
Diencephalic syndrome of emaciation (Russell's syndrome). Long-term survival. ( 3992458 )
1985
46
Spasmus nutans as a presenting sign of diencephalic syndrome. ( 4032143 )
1985
47
Hypothalamic polar spongioblastoma associated with the diencephalic syndrome. Ultrastructural demonstration of a neuro-endocrine organization. ( 6426152 )
1984
48
Diencephalic syndrome due to a suprasellar epidermoid cyst. Case report. ( 6661939 )
1983
49
Diencephalic syndrome of emaciation (Russell's syndrome). ( 6803375 )
1982
50
Cherry red macular degeneration. A clinical manifestation of the diencephalic syndrome? ( 7180459 )
1982

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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