BHDS
MCID: BBB001
MIFTS: 19

Bobble-Head Doll Syndrome (BHDS)

Categories: Neuronal diseases, Rare diseases
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Aliases & Classifications for Bobble-Head Doll Syndrome

MalaCards integrated aliases for Bobble-Head Doll Syndrome:

Name: Bobble-Head Doll Syndrome 19 71 75
Bobble Head Doll Syndrome 19
Bhds 19

Classifications:



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UMLS 71 C2931137

Summaries for Bobble-Head Doll Syndrome

GARD: 19 Bobble-head doll syndrome (BHDS) is a rare neurological condition that is typically first seen in childhood. The signs and symptoms of BHDS include characteristic up and down head movements that increase during walking and excitement and decrease during concentration. Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that also cause hydrocephalus (water on the brain).

MalaCards based summary: Bobble-Head Doll Syndrome, also known as bobble head doll syndrome, is related to birt-hogg-dube syndrome and hydrocephalus. Affiliated tissues include brain, lung and skin.

Wikipedia: 75 Bobble-head doll syndrome is a rare neurological movement disorder in which patients, usually children... more...

Related Diseases for Bobble-Head Doll Syndrome

Graphical network of the top 20 diseases related to Bobble-Head Doll Syndrome:



Diseases related to Bobble-Head Doll Syndrome

Symptoms & Phenotypes for Bobble-Head Doll Syndrome

Drugs & Therapeutics for Bobble-Head Doll Syndrome

Search Clinical Trials, NIH Clinical Center for Bobble-Head Doll Syndrome

Genetic Tests for Bobble-Head Doll Syndrome

Anatomical Context for Bobble-Head Doll Syndrome

Organs/tissues related to Bobble-Head Doll Syndrome:

MalaCards : Brain, Lung, Skin, Kidney, Heart, Thyroid, Endothelial

Publications for Bobble-Head Doll Syndrome

Articles related to Bobble-Head Doll Syndrome:

(show top 50) (show all 202)
# Title Authors PMID Year
1
When it starts in the skin and goes to the lungs, where does it stop? 62
36188354 2022
2
Effects of lung volume and trigeminal nerve stimulation on diving response in breath-hold divers and non-divers. 62
35550439 2022
3
Hematological variables in recreational breath-hold divers: a longitudinal study. 62
34498826 2022
4
Birt-Hogg-Dubé syndrome: Another mTOR phenomenon. 62
35907578 2022
5
Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China. 62
35578266 2022
6
Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN. 62
35477461 2022
7
Comment on Balsamo et al.: "Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature". 62
35428236 2022
8
Post-injury outcomes of children with behavioral health disorders. 62
34052006 2022
9
Mind the Difference: Characterizing the Impact of Behavioral Health Disorders on Facial Trauma. 62
34837732 2022
10
Obstructive Hydrocephalus Presenting with Bobble-Head Doll Syndrome. 62
34448182 2022
11
Birt-Hogg-Dubé Syndrome: Diagnostic Journey of Three Cases from Skin to Gene. 62
35221599 2022
12
A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population. 62
35176117 2022
13
Birt-Hogg-Dubé syndrome: case report and brief review of the literature. 62
34840640 2022
14
Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt-Hogg-Dubè Syndrome Family. 62
35237525 2022
15
Prevalence, trends and associated factors of hypertension and diabetes mellitus in Bangladesh: Evidence from BHDS 2011 and 2017-18. 62
35503777 2022
16
Birt-Hogg-Dubé syndrome with rare unclassified renal cell carcinoma: A case report. 62
34941164 2021
17
A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours. 62
34267338 2021
18
Effects of sex differences on breath-hold diving performance. 62
34153544 2021
19
Precise control of squeezing angle to generate 11 dB entangled state. 62
34614679 2021
20
Novel folliculin gene mutations in Polish patients with Birt-Hogg-Dubé syndrome. 62
34229741 2021
21
CT findings of pulmonary cysts. 62
33741130 2021
22
Colorectal cancer risk in families with Birt-Hogg-Dubé syndrome increased. 62
34000505 2021
23
Endoscopic Laser Fenestration to Treat a Bobble-Head Doll Syndrome Caused by Suprasellar Cyst. 62
33741543 2021
24
Hydrocephalus and Bobble-Head Doll Syndrome. 62
33691162 2021
25
Physiology, pathophysiology and (mal)adaptations to chronic apnoeic training: a state-of-the-art review. 62
33791844 2021
26
A Neuronavigation-Assisted Endoscopic Ventriculocystocisternostomy of a Suprasellar Arachnoid Cyst: A 2D Video Case Presentation. 62
34123654 2021
27
Folliculin haploinsufficiency causes cellular dysfunction of pleural mesothelial cells. 62
34031471 2021
28
Birt-Hogg-Dubé syndrome in Chinese patients: a literature review of 120 families. 62
34001170 2021
29
Comprehensive Molecular Genetic Diagnostics of Birt-Hogg-Dube Syndrome in a Russian Patient with Renal Cancer and Lung Cysts: A Case Report. 62
34703430 2021
30
Autonomic regulation of the heart and arrhythmogenesis in trained breath-hold divers. 62
32223533 2021
31
Metastatic follicular thyroid cancer in a patient with Birt-Hogg-Dubé syndrome. 62
33489141 2021
32
Birt-hogg-Dubé Syndrome Incidentally Identified in a Potential Liver Donor. 62
33334292 2021
33
Birt-Hogg-Dubé Syndrome presenting with chronic progressive dyspnea. 62
33912385 2021
34
Birt-Hogg-Dubé syndrome - an unique case series. 62
33471358 2021
35
A Novel FLCN Intragenic Deletion Identified by NGS in a BHDS Family and Literature Review. 62
33927747 2021
36
Bobble-head doll syndrome with supra-sellar arachnoid cyst. 62
33093183 2020
37
Secondary pneumothorax associated with Birt-Hogg-Dubé syndrome: a case report. 62
32642019 2020
38
FLCN-regulated miRNAs suppressed reparative response in cells and pulmonary lesions of Birt-Hogg-Dubé syndrome. 62
32184379 2020
39
Understanding the multi-herbal composition of Buyang Huanwu Decoction: A review for better clinical use. 62
32171896 2020
40
A familial case of Birt-Hogg-Dubé syndrome complicated with various cancers. 62
32190329 2020
41
Genetic Risk Factors for Spontaneous Pneumothorax in Birt-Hogg-Dubé Syndrome. 62
31958439 2020
42
A case of Birt-Hogg-Dubé syndrome implying reduced or no wild-type folliculin without mutated protein is pathogenic. 62
31778855 2020
43
Quantitative Analysis of Cystic Lung Diseases by Use of Paired Inspiratory and Expiratory CT: Estimation of the Extent of Cyst-Airway Communication and Evaluation of Diagnostic Utility. 62
33778553 2020
44
Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature. 62
32171268 2020
45
Leiomyosarcoma in Birt-Hogg-Dubé Syndrome. 62
31929385 2020
46
Breast cancer in a patient with Birt-Hogg-Dubé syndrome (BHDS) with dramatic response to neoadjuvant chemotherapy. 62
32024715 2020
47
Identification of a Novel Pathogenic Folliculin Variant in a Chinese Family With Birt-Hogg-Dubé Syndrome (Hornstein-Knickenberg Syndrome). 62
33240319 2020
48
Suprasellar Cyst Presenting With Bobble-Head Doll Syndrome. 62
31574329 2020
49
Cystic lung disease in Birt-Hogg-Dubé syndrome. A case series. 62
32420021 2020
50
Outcomes in Trauma Patients With Behavioral Health Disorders. 62
31326708 2019

Variations for Bobble-Head Doll Syndrome

Expression for Bobble-Head Doll Syndrome

Search GEO for disease gene expression data for Bobble-Head Doll Syndrome.

Pathways for Bobble-Head Doll Syndrome

GO Terms for Bobble-Head Doll Syndrome

Sources for Bobble-Head Doll 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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