MCID: PNT009
MIFTS: 28

Pontine Tegmental Cap Dysplasia

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Pontine Tegmental Cap Dysplasia

MalaCards integrated aliases for Pontine Tegmental Cap Dysplasia:

Name: Pontine Tegmental Cap Dysplasia 57 53 59 73
Ptcd 57 53 59

Characteristics:

Orphanet epidemiological data:

59
pontine tegmental cap dysplasia
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
isolated cases

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


HPO:

32
pontine tegmental cap dysplasia:
Onset and clinical course phenotypic variability
Inheritance sporadic


Classifications:



Summaries for Pontine Tegmental Cap Dysplasia

NIH Rare Diseases : 53 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 neuronitis and neuropathy, and has symptoms including ataxia An important gene associated with Pontine Tegmental Cap Dysplasia is NPHP1 (Nephrocystin 1). Affiliated tissues include brain, pons and heart, and related phenotypes are ptosis and nystagmus

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)

Related Diseases for Pontine Tegmental Cap Dysplasia

Diseases related to Pontine Tegmental Cap Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neuronitis 10.1
2 neuropathy 10.1
3 pancreatic cancer 9.9
4 bile duct carcinoma 9.9
5 pancreatitis 9.9

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
nystagmus
strabismus
oculomotor apraxia
decreased corneal sensation
more
Growth Other:
failure to thrive

Head And Neck Face:
facial palsy

Muscle Soft Tissue:
hypotonia

Head And Neck Ears:
deafness, sensorineural

Head And Neck Head:
head titubations

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

Neurologic Central Nervous System:
ataxia
facial palsy
dysmetria
delayed psychomotor development
abnormal movements
more
Skeletal Spine:
scoliosis
hemivertebrae
vertebral abnormalities

Head And Neck Mouth:
chewing difficulties

Abdomen Gastrointestinal:
poor feeding
swallowing difficulties

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
easily frustrated
emotional fragility

Respiratory:
aspiration due to orofacial incoordination


Clinical features from OMIM:

614688

Human phenotypes related to Pontine Tegmental Cap Dysplasia:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 nystagmus 32 HP:0000639
3 intellectual disability 32 hallmark (90%) HP:0001249
4 seizures 32 occasional (7.5%) HP:0001250
5 hyperreflexia 32 very rare (1%) HP:0001347
6 failure to thrive 32 HP:0001508
7 dysphagia 32 HP:0002015
8 scoliosis 32 HP:0002650
9 facial palsy 32 HP:0010628
10 global developmental delay 32 HP:0001263
11 sensorineural hearing impairment 32 HP:0000407
12 feeding difficulties 32 HP:0011968
13 strabismus 32 HP:0000486
14 absent speech 32 HP:0001344
15 dysmetria 32 HP:0001310
16 hemivertebrae 32 HP:0002937
17 rib fusion 32 HP:0000902
18 aspiration 32 HP:0002835
19 ankle clonus 32 occasional (7.5%) HP:0011448
20 oculomotor apraxia 32 HP:0000657
21 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
22 generalized hypotonia 32 HP:0001290
23 decreased corneal sensation 32 HP:0012155
24 head titubation 32 HP:0002599
25 impaired mastication 32 HP:0005216
26 pontine tegmental cap 32 HP:0030975

UMLS symptoms related to Pontine Tegmental Cap Dysplasia:


ataxia

Drugs & Therapeutics for Pontine Tegmental Cap Dysplasia

Search Clinical Trials , 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:

41
Brain, Pons, Heart, Cerebellum, Bone

Publications for Pontine Tegmental Cap Dysplasia

Articles related to Pontine Tegmental Cap Dysplasia:

(show all 20)
# Title Authors Year
1
Clinicoradiological aspects of pontine tegmental cap dysplasia: Case report of a rare hindbrain malformation. ( 29692521 )
2018
2
Pontine Tegmental Cap Dysplasia in an Extremely Preterm Infant and Review of the Literature. ( 28193110 )
2017
3
Prenatal Imaging Findings of Pontine Tegmental Cap Dysplasia: Report of Four Cases. ( 28675887 )
2017
4
Pontine tegmental cap dysplasia accompanied by a duplicated internal auditory canal. ( 28894343 )
2017
5
Pontine tegmental cap dysplasia: neuropathological confirmation of a rare clinical/radiological syndrome. ( 26331236 )
2015
6
Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia. ( 26458891 )
2015
7
Pontine Tegmental Cap Dysplasia: MR Evaluation of Vestibulocochlear Neuropathy. ( 25691269 )
2015
8
A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum. ( 24650581 )
2014
9
Pontine tegmental cap dysplasia: Report of two new cases from Kuwait. ( 25220782 )
2014
10
Ectopic peripontine arcuate fibres, a novel finding in pontine tegmental cap dysplasia. ( 24485946 )
2014
11
Novel clinical features in pontine tegmental cap dysplasia. ( 22633637 )
2012
12
Imaging case of the month: Abnormalities of the cochlear nerves and internal auditory canals in pontine tegmental cap dysplasia. ( 22931867 )
2012
13
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients. ( 21651769 )
2011
14
Pontine tegmental cap dysplasia: the neurotologic perspective. ( 21705787 )
2011
15
Pontine tegmental cap dysplasia: a hindbrain malformation caused by defective neuronal migration. ( 20513821 )
2010
16
Cochlear implantation in pontine tegmental cap dysplasia. ( 20627414 )
2010
17
Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: insights into malformations of the mid-hindbrain. ( 20434703 )
2010
18
Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigation. ( 18842761 )
2009
19
Pontine tegmental cap dysplasia: the severe end of the clinical spectrum. ( 19639528 )
2009
20
Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance. ( 17690130 )
2007

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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