MCID: DNC004
MIFTS: 36

Diencephalic Syndrome

Categories: Endocrine diseases, Eye diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Diencephalic Syndrome

MalaCards integrated aliases for Diencephalic Syndrome:

Name: Diencephalic Syndrome 19 58 75 71
Diencephalic Syndrome of Emaciation 19 58
Diencephalic Syndrome of Childhood 19 58
Russell Diencephalic Cachexia 19 58
Diencephalic Cachexia 19 58
Russell Syndrome 19 58
Diencephalic Syndrome of Infancy 71
Russell-Silver Syndrome 71

Characteristics:


Age Of Onset:

Adolescent,Adult,Childhood,Infancy 58

Age Of Death:

adolescent,early childhood,late childhood,young Adult 58

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 32 C72.8
UMLS via Orphanet 72 C0271889 C0342436
Orphanet 58 ORPHA1672
UMLS 71 C0175693 C0271889 C0342436

Summaries for Diencephalic Syndrome

GARD: 19 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.

MalaCards based summary: Diencephalic Syndrome, also known as diencephalic syndrome of emaciation, is related to silver-russell syndrome 1 and silver-russell syndrome 3. The drugs Anastrozole and Aromatase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, hypothalamus and brain, and related phenotypes are behavioral abnormality and cachexia

Orphanet: 58 Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.

Wikipedia: 75 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 255)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 1 11.9
2 silver-russell syndrome 3 11.6
3 silver-russell syndrome 5 11.6
4 silver-russell syndrome 4 11.6
5 silver-russell syndrome 2 11.4
6 silver-russell syndrome due to 7p11.2p13 microduplication 11.4
7 silver-russell syndrome due to maternal uniparental disomy of chromosome 7 11.4
8 mosaic trisomy 7 11.2
9 silver-russell syndrome due to an imprinting defect of 11p15 11.2
10 silver-russell syndrome due to 11p15 microduplication 11.2
11 silver-russell syndrome due to maternal uniparental disomy of chromosome 11 11.0
12 silver-russell syndrome due to a point mutation 11.0
13 maternal uniparental disomy 10.8
14 glioma susceptibility 1 10.6
15 beckwith-wiedemann syndrome 10.5
16 pilocytic astrocytoma 10.4
17 overgrowth syndrome 10.4
18 pathologic nystagmus 10.3
19 chromosomal triplication 10.3
20 hemihyperplasia, isolated 10.3
21 conn's syndrome 10.3
22 glioma 10.3
23 glial tumor 10.3
24 cryptorchidism, unilateral or bilateral 10.2
25 microcephaly 10.2
26 pituitary-dependent cushing's disease 10.2
27 temple syndrome 10.2
28 low grade glioma 10.2
29 ichthyosis, congenital, autosomal recessive 1 10.2
30 hypospadias 10.2
31 factor vii deficiency 10.2
32 hypothalamic disease 10.2
33 precocious puberty 10.2
34 mayer-rokitansky-kuster-hauser syndrome 10.1
35 alacrima, achalasia, and mental retardation syndrome 10.1
36 growth hormone deficiency 10.1
37 hypotonia 10.1
38 neurofibromatosis, type i 10.1
39 craniopharyngioma 10.1
40 pilomyxoid astrocytoma 10.1
41 neurofibromatosis 10.1
42 hypopituitarism 10.1
43 learning disability 10.1
44 12q14 microdeletion syndrome 10.1
45 ring chromosome 10.1
46 pituitary adenoma 4, acth-secreting 10.1
47 neurofibromatosis-noonan syndrome 10.1
48 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.1
49 central nervous system cancer 10.1
50 hypothalamic obesity 10.1

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 30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 behavioral abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000708
2 cachexia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004326
3 abnormality of the hypothalamus-pituitary axis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000864
4 neoplasm of the nervous system 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004375
5 nystagmus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000639
6 hyperhidrosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000975
7 hydrocephalus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000238
8 macrotia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000400
9 abnormality of movement 58 30 Frequent (33%) Frequent (79-30%)
HP:0100022
10 everted lower lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000232
11 long penis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000040
12 optic atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000648
13 large hands 58 30 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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anastrozole Approved, Investigational 120511-73-1 2187
2 Aromatase Inhibitors
3 Antineoplastic Agents, Hormonal
4 Estrogens
5 Estrogen Receptor Antagonists
6 Estrogen Antagonists
7 Hormone Antagonists
8 Hormones

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes Unknown status NCT01842659
3 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
4 Genetic Diagnosis and the Response to Recombinant Human Growth Hormone Treatment in Small for Gestational Age Children With Short Stature Not yet recruiting NCT05070234

Search NIH Clinical Center for Diencephalic Syndrome

Genetic Tests for Diencephalic Syndrome

Anatomical Context for Diencephalic Syndrome

Organs/tissues related to Diencephalic Syndrome:

MalaCards : Spinal Cord, Hypothalamus, Brain, Thalamus, Eye, Skin, Pituitary

Publications for Diencephalic Syndrome

Articles related to Diencephalic Syndrome:

(show top 50) (show all 819)
# Title Authors PMID Year
1
Short Stature Syndromes: Case Series from India. 62
36267864 2022
2
A Nationwide Evaluation of Bevacizumab-based Treatments in Paediatric Low-Grade Glioma in the UK: Safety. Efficacy, Visual Morbidity and Outcomes. 62
36239316 2022
3
Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system. 62
35606504 2022
4
Diencephalic syndrome in a female child due to intracranial germinoma: a case report. 62
35507081 2022
5
Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome. 62
36097158 2022
6
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight. 62
35792504 2022
7
Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment. 62
35261046 2022
8
A 79-kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype. 62
35593535 2022
9
Frequency of diencephalic syndrome in NMOSD. 62
34515964 2022
10
Diencephalic syndrome in childhood, a challenging cause of failure to thrive: miniseries and literature review. 62
35978327 2022
11
Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders. 62
35583390 2022
12
Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing. 62
36158051 2022
13
Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability. 62
35365979 2022
14
A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype. 62
35772847 2022
15
Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study. 62
34135092 2022
16
Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes. 62
35562807 2022
17
An Unusual Association: Silver-Russell Syndrome and Ectopic Thyroid. 62
35698710 2022
18
Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders. 62
35522427 2022
19
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome. 62
35304302 2022
20
Dental pulp stem cells as a promising model to study imprinting diseases. 62
35368018 2022
21
Silver-Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient. 62
34750319 2022
22
Clinical and Molecular Heterogeneity of Silver Russell Syndrome and Therapeutic Challenges: A Systematic Review. 62
35293298 2022
23
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences. 62
35296332 2022
24
Diencephalic Syndrome Due to Optic Pathway Gliomas in Pediatric Patients: An Italian Multicenter Study. 62
35328218 2022
25
The Methylation Status in the Chromosome 11p15.5 Region and Metabolic Disorders in Children with Syndromic and Nonsyndromic Intrauterine Growth Restriction. 62
35418826 2022
26
Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age. 62
36093089 2022
27
Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias. 62
34518484 2022
28
Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome. 62
36060959 2022
29
Usefulness of the MS-MLPA technique in the diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome. 62
36256576 2022
30
Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome. 62
36268036 2022
31
Transition From Diencephalic Syndrome to Hypothalamic Obesity in Children With Suprasellar Low Grade Glioma: A Case Series. 62
35464054 2022
32
Seropositive Neuromyelitis Optica in a Case of Undiagnosed Ankylosing Spondylitis: A Neuro-Rheumatological Conundrum. 62
35864917 2022
33
A Missed Case of Area Postrema Syndrome Presenting with Neuromyelitis Optica Spectrum Disorder. 62
35046381 2022
34
A 40-Year Cohort Study of Evolving Hypothalamic Dysfunction in Infants and Young Children (<3 years) with Optic Pathway Gliomas. 62
35159015 2022
35
Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants. 62
34276055 2021
36
Experiences of adolescents living with Silver-Russell syndrome. 62
33741574 2021
37
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2. 62
34031513 2021
38
Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome. 62
34834549 2021
39
Prospective study of epigenetic alterations responsible for isolated hemihyperplasia/hemihypoplasia and their association with leg length discrepancy. 62
34627330 2021
40
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes. 62
34136918 2021
41
Epigenetic Mechanisms of ART-Related Imprinting Disorders: Lessons From iPSC and Mouse Models. 62
34828310 2021
42
New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing. 62
34042264 2021
43
Left Second Metacarpal Pseudoepiphysis in Silver-Russell Syndrome. 62
34018134 2021
44
Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement. 62
34223693 2021
45
Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1. 62
34480472 2021
46
Emerging role of non-coding RNA in health and disease. 62
33881724 2021
47
Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome. 62
34602957 2021
48
Intellectual functioning in Silver-Russell syndrome: First study in adults. 62
31390893 2021
49
Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver-Russell Syndrome. 62
33536359 2021
50
The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model. 62
34132339 2021

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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