PTCD
MCID: PNT009
MIFTS: 34

Pontine Tegmental Cap Dysplasia (PTCD)

Categories: Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pontine Tegmental Cap Dysplasia

MalaCards integrated aliases for Pontine Tegmental Cap Dysplasia:

Name: Pontine Tegmental Cap Dysplasia 57 20 58 70
Ptcd 57 20 58

Characteristics:

Orphanet epidemiological data:

58
pontine tegmental cap dysplasia
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
isolated cases

Miscellaneous:
variable phenotype and severity
feeding difficulties, including aspiration, ameliorate with age


HPO:

31
pontine tegmental cap dysplasia:
Inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Pontine Tegmental Cap Dysplasia

GARD : 20 Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain. Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia, language and speech disorders, feeding and swallowing difficulties, heart malformations and facial paralysis. The severity of the medical problems varies among patients. Some patients have a good long-term prognosis with normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation.

MalaCards based summary : Pontine Tegmental Cap Dysplasia, also known as ptcd, is related to sensorineural hearing loss and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, and has symptoms including ataxia An important gene associated with Pontine Tegmental Cap Dysplasia is NPHP1 (Nephrocystin 1). The drugs Ceftriaxone and Antibiotics, Antitubercular have been mentioned in the context of this disorder. Affiliated tissues include pons, brain and cerebellum, and related phenotypes are intellectual disability and hypoplasia of the corpus callosum

OMIM® : 57 Pontine tegmental cap dysplasia (PTCD) refers to a neurologic condition characterized by a distinct pattern of hindbrain malformations apparent on brain imaging. The abnormalities affect the pons, medulla, and cerebellum. In neuroradiologic studies, the ventral side of the pons is flattened, whereas there is vaulting ('capping') of the dorsal pontine border into the fourth ventricle. Affected individuals show a variety of neurologic deficits, most commonly sensorineural deafness, impaired cranial nerve function, and variable psychomotor retardation (summary by Barth et al., 2007). (614688) (Updated 05-Apr-2021)

Related Diseases for Pontine Tegmental Cap Dysplasia

Graphical network of the top 20 diseases related to Pontine Tegmental Cap Dysplasia:



Diseases related to Pontine Tegmental Cap Dysplasia

Symptoms & Phenotypes for Pontine Tegmental Cap Dysplasia

Human phenotypes related to Pontine Tegmental Cap Dysplasia:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 hallmark (90%) HP:0001249
2 hypoplasia of the corpus callosum 31 occasional (7.5%) HP:0002079
3 ankle clonus 31 occasional (7.5%) HP:0011448
4 seizure 31 occasional (7.5%) HP:0001250
5 hyperreflexia 31 very rare (1%) HP:0001347
6 failure to thrive 31 HP:0001508
7 scoliosis 31 HP:0002650
8 ptosis 31 HP:0000508
9 nystagmus 31 HP:0000639
10 dysphagia 31 HP:0002015
11 facial palsy 31 HP:0010628
12 global developmental delay 31 HP:0001263
13 sensorineural hearing impairment 31 HP:0000407
14 strabismus 31 HP:0000486
15 absent speech 31 HP:0001344
16 hemivertebrae 31 HP:0002937
17 dysmetria 31 HP:0001310
18 rib fusion 31 HP:0000902
19 feeding difficulties 31 HP:0011968
20 oculomotor apraxia 31 HP:0000657
21 generalized hypotonia 31 HP:0001290
22 impaired mastication 31 HP:0005216
23 aspiration 31 HP:0002835
24 head titubation 31 HP:0002599
25 decreased corneal sensation 31 HP:0012155
26 pontine tegmental cap 31 HP:0030975

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Head And Neck Eyes:
ptosis
nystagmus
strabismus
oculomotor apraxia
decreased corneal sensation
more
Head And Neck Face:
facial palsy

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
easily frustrated
emotional fragility

Head And Neck Ears:
deafness, sensorineural

Head And Neck Head:
head titubations

Chest Ribs Sternum Clavicles And Scapulae:
rib fusion (variable)

Skeletal Spine:
scoliosis
hemivertebrae
vertebral abnormalities

Neurologic Central Nervous System:
ataxia
facial palsy
dysmetria
delayed psychomotor development
abnormal movements
more
Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
poor feeding
swallowing difficulties

Head And Neck Mouth:
chewing difficulties

Respiratory:
aspiration due to orofacial incoordination

Clinical features from OMIM®:

614688 (Updated 05-Apr-2021)

UMLS symptoms related to Pontine Tegmental Cap Dysplasia:


ataxia

Drugs & Therapeutics for Pontine Tegmental Cap Dysplasia

Drugs for Pontine Tegmental Cap Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ceftriaxone Approved 73384-59-5 5479530 5361919
2 Antibiotics, Antitubercular
3 Anti-Bacterial Agents
4 Anti-Infective Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Capnography During Percutaneous Transhepatic Cholangiodrainage (PTCD) (HepaBreath) Completed NCT01587157 Phase 3
2 A Prospective Study: Magnetic Compression Anastomosis for Recanalization of Biliary Stricture Recruiting NCT04170933
3 The Influence of Antibiotics on the Incidence of Biliary Tract Infections After PTCD for Malignant Obstructive Jaundice Recruiting NCT04620577

Search NIH Clinical Center for Pontine Tegmental Cap Dysplasia

Genetic Tests for Pontine Tegmental Cap Dysplasia

Anatomical Context for Pontine Tegmental Cap Dysplasia

MalaCards organs/tissues related to Pontine Tegmental Cap Dysplasia:

40
Pons, Brain, Cerebellum, Eye, Pancreas, Bone Marrow, Bone

Publications for Pontine Tegmental Cap Dysplasia

Articles related to Pontine Tegmental Cap Dysplasia:

(show top 50) (show all 303)
# Title Authors PMID Year
1
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients. 61 57
21651769 2011
2
Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigation. 61 57
18842761 2009
3
Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance. 57 61
17690130 2007
4
Retrospective analysis of T-lymphocyte subsets and cytokines in malignant obstructive jaundice before and after external and internal biliary drainage. 61
33641475 2021
5
Effects of exposure to prothioconazole and its metabolite prothioconazole-desthio on oxidative stress and metabolic profiles of liver and kidney tissues in male mice. 61
33310497 2021
6
Percutaneous transhepatic cholangiography and drainage and endoscopic retrograde cholangiopancreatograph for hilar cholangiocarcinoma: which one is preferred? 61
33118356 2020
7
Ocular Findings in Pontine Tegmental Cap Dysplasia. 61
32398424 2020
8
Laparoscopic Pancreaticoduodenectomy with Superior Mesenteric Vein Resection and Artificial Vascular Graft Reconstruction for Borderline Resectable Pancreatic Cancer. 61
33037557 2020
9
Efficacy of the novel inner PIERCE technique for severely calcified below-the-knee occlusions in a patient with chronic limb-threatening ischemia. 61
32930477 2020
10
Successful Treatment of Bronchobiliary Fistula After Living Donor Liver Transplantation: A Case Report. 61
32434746 2020
11
[The clinical application of primary sinus tract sinus establishment combined with holmium laser lithotripsy in elderly patients with choledocholithiasis and stricture]. 61
33142399 2020
12
[EUS-guided therapy of cholangiolithiasis in surgically altered anatomy of the upper GI tract - a unicenter case study]. 61
33197950 2020
13
[Diagnostic quality of transluminal biopsy in undetermined biliary duct stenosis by primary PTCD with "cross and push" technique - a prospective monocentric pilot study]. 61
32572872 2020
14
Type IV choledochal cyst with polycystic kidney disease: a case report. 61
32957915 2020
15
A case report of pediatric neurotrophic keratopathy in pontine tegmental cap dysplasia treated with cenegermin eye drops. 61
32791670 2020
16
Management of Biliary Stricture in Pediatric Living Donor Liver Transplantation Recipients. 61
32624229 2020
17
Postsurgical Management of Dilated Biliary Tract in Children: Ultrasound-Guided Percutaneous Transhepatic Cholangial Drainage and Subsequent Percutaneous Ultrasound Cholangiography. 61
32160054 2020
18
Supramolecular architecture and electrical conductivity in organic semiconducting thin films. 61
32510547 2020
19
Prognostic and predictive factors for Taiwanese patients with advanced biliary tract cancer undergoing frontline chemotherapy with gemcitabine and cisplatin: a real-world experience. 61
32410631 2020
20
Pontine Tegmental Cap Dysplasia- the Role of MRI and DTI in Diagnosis. 61
32643691 2020
21
Effect of PTCD-based biliary stent placement combined with 125I particle intracavitary irradiation in treating pancreatic head cancer. 61
32521906 2020
22
[Interventional radiology as emergency therapy]. 61
31970424 2020
23
Timing of Intra-Articular Injection of Synovial Mesenchymal Stem Cells Affects Cartilage Restoration in a Partial Thickness Cartilage Defect Model in Rats. 61
29989441 2020
24
Abdominal Pain After Subtotal Gastrectomy: A First Report of Accessory Pancreatic Fistula. 61
32110091 2020
25
[A Case of Pancreatic Head Cancer after Esophagectomy and Gastrectomy Treated with Pancreatoduodenectomy]. 61
32156966 2019
26
Pontine tegmental cap dysplasia with a duplicated internal auditory canal. 61
31049119 2019
27
Case 266: Pontine Tegmental Cap Dysplasia. 61
31116692 2019
28
Selective Activation of the C-H Bond in Methane by Single Platinum Atomic Anions. 61
30968506 2019
29
Endoscopic Retrograde Biliary Drainage Causes Intra-Abdominal Abscess in Pancreaticoduodenectomy Patients: An Important But Neglected Risk Factor. 61
30675700 2019
30
Primary Clinical Application of Y-Shaped Jogged Stent Implantation in Patients with Malignant Hilar Biliary Obstruction. 61
30790219 2019
31
CD3+/CD19+ Depleted Matched and Mismatched Unrelated Donor Hematopoietic Stem Cell Transplant with Targeted T Cell Addback Is Associated with Excellent Outcomes in Pediatric Patients with Nonmalignant Hematologic Disorders. 61
30312755 2019
32
Age-dependent differences in response to partial-thickness cartilage defects in a rat model as a measure to evaluate the efficacy of interventions for cartilage repair. 61
30259137 2019
33
Transhepatic forceps biopsy after PTCD for histological assessment of bile duct stenoses or occlusions. 61
30754057 2019
34
Prenatal Imaging Findings of Pontine Tegmental Cap Dysplasia: Report of Four Cases. 61
28675887 2019
35
Percutaneous transhepatic cholangial drainage combined with percutaneous endoscopic jejunostomy for maintaining nutrition state in patients with advanced ampullary neoplasms. 61
30539863 2018
36
[Internal Hernia after Distal Gastrectomy for Gastric Cancer Triggered by Retroperitoneal Recurrence]. 61
30692279 2018
37
Mystery Case: Pontine tegmental cap dysplasia in a neonate. 61
30478078 2018
38
Magnetic compression anastomosis for the complete dehiscence of hepaticojejunostomy in a patient after living-donor liver transplantation. 61
30112678 2018
39
Maternal Serum Eye Drops in the Management of Pediatric Persistent Corneal Epithelial Defects: A Case Series. 61
29324584 2018
40
Partial T-cell depletion improves the composite endpoint graft-versus-host disease-free, relapse-free survival after allogeneic hematopoietic stem cell transplantation. 61
28679328 2018
41
Impact of low dose settings on radiation exposure during pediatric fluoroscopic guided interventions. 61
29496066 2018
42
Clinicoradiological aspects of pontine tegmental cap dysplasia: Case report of a rare hindbrain malformation. 61
29692521 2018
43
Analysis of Wire-Guided Hemostasis Introducer for Percutaneous Therapy of Bile Duct Stones. 61
29428940 2018
44
Recanalization for Tight Bile Duct-Jejunum Anastomosis Stricture Using Peroral Transliminal Cholangioscopy (with Video). 61
30153685 2018
45
Transthoracic catheter drainage for large symptomatic congenital pulmonary airway malformation. 61
29028157 2017
46
[A Case of Urothelial Carcinoma Who Underwent Pancreaticoduodenectomy and Was Diagnosed with Groove Pancreatitis and Preoperatively Suffered from Duodenal Stenosis]. 61
29394848 2017
47
Ultrasound-guided percutaneous microwave ablation assisted by three-dimensional visualization operative treatment planning system and percutaneous transhepatic cholangial drainage with intraductal chilled saline perfusion for larger hepatic hilum hepatocellular (D ≥ 3 cm): preliminary results. 61
29108354 2017
48
Intraductal Ultrasonography as a Local Assessment Before Magnetic Compression Anastomosis for Obstructed Choledochojejunostomy. 61
28912914 2017
49
Effects of Different Palliative Jaundice Reducing Methods on Immunologic Functions in Patients with Advanced Malignant Obstructive Jaundice. 61
28739769 2017
50
Pontine tegmental cap dysplasia accompanied by a duplicated internal auditory canal. 61
28894343 2017

Variations for Pontine Tegmental Cap Dysplasia

Expression for Pontine Tegmental Cap Dysplasia

Search GEO for disease gene expression data for Pontine Tegmental Cap Dysplasia.

Pathways for Pontine Tegmental Cap Dysplasia

GO Terms for Pontine Tegmental Cap Dysplasia

Sources for Pontine Tegmental Cap Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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