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 52 58 71
Diencephalic Syndrome of Emaciation 52 58
Diencephalic Syndrome of Childhood 52 58
Russell Diencephalic Cachexia 52 58
Diencephalic Cachexia 52 58
Russell Syndrome 52 58
Diencephalic Syndrome of Infancy 71
Russell-Silver Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
diencephalic syndrome
Inheritance: Not applicable; Age of onset: Childhood,Infancy; Age of death: adolescent,early childhood,late childhood,young Adult;

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 C72.8
UMLS via Orphanet 72 C0271889 C0342436
Orphanet 58 ORPHA1672
UMLS 71 C0175693 C0271889 C0342436

Summaries for Diencephalic Syndrome

NIH Rare Diseases : 52 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 Estrogens have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and hypothalamus, and related phenotypes are behavioral abnormality and cachexia

Wikipedia : 74 Diencephalic syndrome, or Russell's syndrome is a rare neurological disorder seen in infants and... 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 189)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 12.8
2 silver-russell syndrome due to 7p11.2p13 microduplication 12.3
3 silver-russell syndrome due to an imprinting defect of 11p15 12.2
4 silver-russell syndrome due to 11p15 microduplication 12.2
5 silver-russell syndrome due to maternal uniparental disomy of chromosome 11 12.2
6 silver-russell syndrome due to a point mutation 12.2
7 silver-russell syndrome due to maternal uniparental disomy of chromosome 7 12.2
8 maternal uniparental disomy 10.8
9 uniparental disomy of chromosome 7 10.6
10 astrocytoma 10.5
11 juvenile pilocytic astrocytoma 10.4
12 overgrowth syndrome 10.3
13 glioma 10.3
14 glial tumor 10.3
15 pathologic nystagmus 10.3
16 hemihyperplasia, isolated 10.2
17 chromosomal triplication 10.2
18 cryptorchidism, unilateral or bilateral 10.2
19 microcephaly 10.2
20 alacrima, achalasia, and mental retardation syndrome 10.1
21 temple syndrome 10.1
22 scoliosis 10.1
23 hypospadias 10.1
24 dwarfism 10.1
25 growth hormone deficiency 10.1
26 neurofibromatosis, type iv, of riccardi 10.1
27 rheumatic disease 10.1
28 craniopharyngioma 10.1
29 pilomyxoid astrocytoma 10.1
30 precocious puberty 10.1
31 12q14 microdeletion syndrome 10.1
32 ring chromosome 10.1
33 pituitary adenoma 4, acth-secreting 10.0
34 striatal degeneration, autosomal dominant 2 10.0
35 enthesopathy 10.0
36 acth-secreting pituitary adenoma 10.0
37 hypopituitarism 10.0
38 gigantism 10.0
39 low-grade astrocytoma 10.0
40 papillary craniopharyngioma 10.0
41 chromosome 2q35 duplication syndrome 10.0
42 cystic fibrosis 10.0
43 brachydactyly 10.0
44 mosaic trisomy 7 10.0
45 ring chromosome 7 10.0
46 hypotonia 10.0
47 strabismus 10.0
48 anorexia nervosa 10.0
49 hydrocephalus 10.0
50 marasmus 10.0

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:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 behavioral abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000708
2 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
3 neoplasm of the nervous system 58 31 hallmark (90%) Very frequent (99-80%) HP:0004375
4 abnormality of the hypothalamus-pituitary axis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000864
5 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
6 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
7 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
8 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
9 abnormality of movement 58 31 frequent (33%) Frequent (79-30%) HP:0100022
10 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
11 long penis 58 31 frequent (33%) Frequent (79-30%) HP:0000040
12 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
13 large hands 58 31 occasional (7.5%) Occasional (29-5%) HP:0001176
14 decreased body weight 58 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 Estrogens
3 Aromatase Inhibitors
4 Hormone Antagonists
5 Antineoplastic Agents, Hormonal
6 Steroid Synthesis Inhibitors
7 Estrogen Receptor Antagonists
8 Estrogen Antagonists
9 Hormones

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
2 Efficacy and Tolerance of Treatment With an Aromatase Inhibitor (Anastrozole) to Limit the Progression of Bone Maturation Related to Pathological Adrenarche in Children With Silver-Russell or Prader-Willi Syndrome Unknown status NCT01520467 Anastrozole;Placebo
3 Can Epimutations be Inherited? How to Manage Patients With Imprinting-related Diseases Who Wish to Become Parents Completed NCT02859688
4 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
5 Impact of Herniation on WFNS Grading and Outcome in Spontaneous Subarachnoid Hemorrhage - a SWISS SOS Observational Trial Active, not recruiting NCT02304328

Search NIH Clinical Center for Diencephalic Syndrome

Genetic Tests for Diencephalic Syndrome

Anatomical Context for Diencephalic Syndrome

MalaCards organs/tissues related to Diencephalic Syndrome:

40
Brain, Eye, Hypothalamus, Skin, Pituitary, Thalamus, Testes

Publications for Diencephalic Syndrome

Articles related to Diencephalic Syndrome:

(show top 50) (show all 703)
# Title Authors PMID Year
1
Favorable survival and metabolic outcome for children with diencephalic syndrome using a radiation-sparing approach. 61 52
24218181 2014
2
Clinical epigenetics: a primer for the practitioner. 61
31749156 2020
3
IGF2 Mutations. 61
31544945 2020
4
Nystagmus in the Diagnosis of Russell Diencephalic Syndrome. 61
31821513 2019
5
Sleep disordered breathing in Silver-Russell syndrome patients: a new outcome. 61
31655321 2019
6
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. 61
31186545 2019
7
Cognitive Profiles and Brain Volume are Affected in Patients with Silver Russell Syndrome. 61
31665337 2019
8
Autistic traits and cognitive abilities associated with two molecular causes of Silver-Russell syndrome. 61
31599634 2019
9
Validation of the 2015 diagnostic criteria for neuromyelitis optica spectrum disorders in a cohort of South Indian patients. 61
31382202 2019
10
A spontaneous pregnancy and successful delivery in a Chinese female with Silver-Russell syndrome accompanied by gestational diabetes mellitus. 61
30905204 2019
11
Intellectual functioning in Silver-Russell syndrome: First study in adults. 61
31390893 2019
12
Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations. 61
31100449 2019
13
Diencephalic syndrome: an anaesthetic challenge. 61
31289170 2019
14
Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology. 61
30242100 2019
15
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome. 61
30633344 2019
16
Contribution of a better maxillofacial phenotype in Silver-Russell syndrome to define a better orthodontics and surgical management. 61
30396025 2019
17
Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome. 61
30610903 2019
18
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes. 61
30829192 2019
19
Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation. 61
30770769 2019
20
Association of four imprinting disorders and ART. 61
30732658 2019
21
Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation. 61
30676999 2019
22
Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders. 61
30801013 2019
23
Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers. 61
30218098 2019
24
Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes. 61
31749829 2019
25
Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver-Russell Syndrome. 61
31803239 2019
26
Adrenal and Gonadal Activity, Androgen Concentrations, and Adult Height Outcomes in Boys With Silver-Russell Syndrome. 61
31920957 2019
27
Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood. 61
29954740 2019
28
Analysis of CDKN1C in fetal growth restriction and pregnancy loss. 61
31497289 2019
29
Cochlear malformation and sensorineural hearing loss in the Silver-Russell Syndrome. 61
28882028 2018
30
Genetic Analysis and Clinical Presentation in Silver Russell Syndrome. 61
30039337 2018
31
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report. 61
30587166 2018
32
Silver Russel syndrome in an aboriginal patient from Australia. 61
30152198 2018
33
Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients. 61
30099855 2018
34
Gonadal function and pubertal development in patients with Silver-Russell syndrome. 61
30252068 2018
35
Diencephalic Syndrome as Presentation of Giant Childhood Craniopharyngioma: Management Review. 61
30937076 2018
36
[Diencephalic syndrome in a child with chronic malnutrition and hyperactivity]. 61
30204995 2018
37
A case of diencephalic syndrome presenting with isolated lipodystrophy. 61
29994870 2018
38
Assisted Reproductive Technologies and imprinting disorders: Results of a study from a French congenital malformations registry. 61
29775803 2018
39
12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature. 61
29501611 2018
40
A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome. 61
29655892 2018
41
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome. 61
29659920 2018
42
Clinical Manifestations and Metabolic Outcomes of Seven Adults With Silver-Russell Syndrome. 61
29546330 2018
43
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients. 61
29878129 2018
44
Targeted therapy for infants with diencephalic syndrome: A case report and review of management strategies. 61
29369501 2018
45
Response in a child with a BRAF V600E mutated desmoplastic infantile astrocytoma upon retreatment with vemurafenib. 61
29230924 2018
46
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database. 61
29250858 2018
47
Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction. 61
28796236 2018
48
Effect of Cyproheptadine on Weight and Growth Velocity in Children With Silver-Russell Syndrome. 61
28806298 2018
49
Close yet so far away: a look into the management strategies of genetic imprinting disorders. 61
30510842 2018
50
Hyperestrogenism Affects Adult Height Outcome in Growth Hormone Treated Boys With Silver-Russell Syndrome. 61
30622515 2018

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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