Aliases & Classifications for Facial Hemiatrophy

MalaCards integrated aliases for Facial Hemiatrophy:

Name: Facial Hemiatrophy 12 44 15 73
Parry-Romberg Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1757
MeSH 44 D005150
SNOMED-CT 68 29868009 95834000
UMLS 73 C0015458

Summaries for Facial Hemiatrophy

MalaCards based summary : Facial Hemiatrophy, also known as parry-romberg syndrome, is related to systemic scleroderma and hemifacial atrophy, progressive, and has symptoms including ataxia and oral manifestations. An important gene associated with Facial Hemiatrophy is PRRT2 (Proline Rich Transmembrane Protein 2). The drugs Chlordiazepoxide and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and breast, and related phenotype is Decreased influenza A/WSN/33 replication.

Related Diseases for Facial Hemiatrophy

Diseases related to Facial Hemiatrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 systemic scleroderma 28.5 CD40LG EXOSC10 SNRNP70
2 hemifacial atrophy, progressive 11.2
3 skin lipoma 10.5 ARHGEF1 HMGA2
4 legg-calve-perthes disease 10.3 CD40LG PEPD
5 autoimmune disease of central nervous system 10.3 CD40LG HMGA2
6 miller fisher syndrome 10.3 CD40LG HMGA2
7 rift valley fever 10.3 CD40LG SLC4A1
8 autoimmune disease of skin and connective tissue 10.3 CD40LG COL17A1
9 oculomotor nerve paralysis 10.2 ARHGEF1 KANTR
10 hyperglobulinemic purpura 10.2 CD40LG TRIM21
11 third cranial nerve disease 10.2 ARHGEF1 KANTR
12 lichen disease 10.2 CD40LG COL17A1
13 diffuse lipomatosis 10.2 HMGA2 KANTR
14 salivary gland disease 10.2 CD40LG TRIM21
15 visual agnosia 10.1 KANTR SLC4A1
16 linear scleroderma 10.1
17 adie pupil 10.1 KANTR TRIM21
18 trench fever 10.0 CD40LG KANTR
19 cerebral arteritis 10.0 CD40LG KANTR
20 ecthyma 10.0 COL17A1 KANTR
21 cervicitis 10.0
22 cerebritis 10.0
23 geniculate herpes zoster 10.0 CD40LG KANTR
24 japanese spotted fever 10.0 CD40LG KANTR
25 brachial plexus neuritis 10.0 CD40LG KANTR
26 exanthem 10.0 CD40LG TRIM21
27 facial nerve disease 10.0 CD40LG KANTR
28 punctate epithelial keratoconjunctivitis 9.9 KANTR TRIM21
29 localized scleroderma 9.9
30 functional colonic disease 9.9 CD40LG KANTR
31 cogan syndrome 9.9 CD40LG TRIM21
32 branch retinal artery occlusion 9.9 CD40LG KANTR
33 cutaneous lupus erythematosus 9.9 CD40LG TRIM21
34 immune system disease 9.9 CD40LG COL17A1 TRIM21
35 colonic pseudo-obstruction 9.8 CD40LG KANTR
36 extrinsic cardiomyopathy 9.8 CD40LG KANTR
37 hemifacial hyperplasia 9.8
38 ellis-van creveld syndrome 9.8
39 alopecia 9.8
40 keratopathy 9.8
41 juvenile glaucoma 9.8
42 sarcoma 9.8
43 enophthalmos 9.8
44 heart disease 9.8
45 hypertrophic cardiomyopathy 9.8
46 optic neuritis 9.8
47 bell's palsy 9.8
48 facial paralysis 9.8
49 hypothyroidism 9.8
50 neuritis 9.8

Graphical network of the top 20 diseases related to Facial Hemiatrophy:



Diseases related to Facial Hemiatrophy

Symptoms & Phenotypes for Facial Hemiatrophy

UMLS symptoms related to Facial Hemiatrophy:


ataxia, oral manifestations

GenomeRNAi Phenotypes related to Facial Hemiatrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased influenza A/WSN/33 replication GR00195-A-1 8.8 PEPD SNRNP70 TRIM21

Drugs & Therapeutics for Facial Hemiatrophy

Drugs for Facial Hemiatrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Chlordiazepoxide Approved, Illicit, Investigational Phase 4 58-25-3 2712
2
Ethanol Approved Phase 4 64-17-5 702
3
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
4
gamma-Aminobutyric acid Approved, Investigational Phase 4 56-12-2 119
5 Adjuvants, Anesthesia Phase 4,Phase 3
6 Analgesics Phase 4,Phase 3
7 Anesthetics Phase 4,Phase 3
8 Anti-Anxiety Agents Phase 4,Phase 3
9 Anticonvulsants Phase 4,Phase 3
10 Antimanic Agents Phase 4
11 Antiparkinson Agents Phase 4
12 calcium channel blockers Phase 4,Phase 3
13 Calcium, Dietary Phase 4,Phase 3,Phase 1
14 Central Nervous System Depressants Phase 4,Phase 3
15 Excitatory Amino Acid Antagonists Phase 4
16 Excitatory Amino Acids Phase 4
17 GABA Agents Phase 4
18 GABA Modulators Phase 4
19 Hypnotics and Sedatives Phase 4
20 Neurotransmitter Agents Phase 4,Phase 2
21 Peripheral Nervous System Agents Phase 4,Phase 3
22 Psychotropic Drugs Phase 4,Phase 3
23 Tranquilizing Agents Phase 4,Phase 3
24
Bupivacaine Approved, Investigational Phase 3 2180-92-9, 38396-39-3 2474
25
Levobupivacaine Approved, Investigational Phase 3 27262-47-1 92253
26
Sufentanil Approved, Investigational Phase 3 56030-54-7 41693
27
Pregabalin Approved, Illicit, Investigational Phase 3 148553-50-8 5486971
28
Methyltestosterone Approved Phase 3 58-18-4 6010
29
Testosterone Approved, Investigational Phase 3 58-22-0 6013
30
Testosterone enanthate Approved Phase 3 315-37-7 9416
31
Testosterone undecanoate Approved, Investigational Phase 3 5949-44-0
32 Analgesics, Opioid Phase 3
33 Anesthetics, General Phase 3
34 Anesthetics, Intravenous Phase 3
35 Anesthetics, Local Phase 3
36 Narcotics Phase 3
37 Hormone Antagonists Phase 3,Phase 1
38 Hormones Phase 3,Phase 1
39 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1
40 Anabolic Agents Phase 3
41 Androgens Phase 3
42 Antineoplastic Agents, Hormonal Phase 3
43 Testosterone 17 beta-cypionate Phase 3
44
Substance P Investigational Phase 2 33507-63-0 44359816
45 Vestipitant Investigational Phase 2 334476-46-9
46 neurokinin A Phase 2
47 Neurokinin-1 Receptor Antagonists Phase 2
48 Adjuvants, Immunologic Phase 2
49
QS 21 Phase 2 141256-04-4
50 Vaccines Phase 2

Interventional clinical trials:

(show top 50) (show all 60)
# Name Status NCT ID Phase Drugs
1 Trial Comparing Navigated and Conventional Implantation Techniques in Knee Replacement Surgery Unknown status NCT00431509 Phase 4
2 Gabapentin vs Chlordiazepoxide for Ambulatory Alcohol Withdrawal Completed NCT01573052 Phase 4 Chlordiazepoxide;Gabapentin
3 Deambulatory Epidural During the Labour Completed NCT02264834 Phase 3 Levobupivacaine 0.1% + Sufentanil 0.2µg/ml;Levobupivacaine 0.07% + Sufentanil 0.3µg/ml
4 Open-Label Extension Study Of Safety And Tolerability Of Pregabalin In Pediatric Patients With Partial-Onset Seizures Completed NCT00448916 Phase 3 Pregabalin
5 Efficacy of SENS-111 in Patients Suffering From Acute Unilateral Vestibulopathy Recruiting NCT03110458 Phase 2, Phase 3 SENS-111 100mg;SENS-111 200mg;Placebo Oral Tablet
6 Combining Testosterone Therapy and Exercise to Improve Function Post Hip Fracture Active, not recruiting NCT02938923 Phase 3 Testosterone;Placebo gel
7 The Effect of Human Adipose Tissue-derived MSCs in Romberg's Disease Completed NCT01309061 Phase 2
8 Vestipitant 28-day Tolerance Study Completed NCT00992160 Phase 2 GW597599;Placebo
9 Safety, Tolerability, And Immunogenicity Study Of ACC-001 In Japanese Subjects With Mild To Moderate Alzheimer's Disease Completed NCT00959192 Phase 2
10 Study Evaluating ACC-001 in Japanese Patients With Mild To Moderate Alzheimer's Disease Completed NCT00752232 Phase 2
11 To Evaluate The Effects Of SB-649868 (10, 30 Mg And 60 Mg) On Subjects With Primary Insomnia Completed NCT00426816 Phase 2 SB-649868;Placebo
12 A Study To Evaluate The Safety And Efficacy Of PF-04958242 In Subjects With Cognitive Impairment Associated With Schizophrenia (CIAS) Terminated NCT02855411 Phase 2 PF-04958242;placebo
13 Study to Investigate Safety, Tolerability, Pharmacokinetics and Cardiac Function After Repeat Doses of SB-649868 in Healthy-volunteers Completed NCT01030939 Phase 1 SB-649868
14 A Single-centre Open Label Study to Investigate the Effect of Repeat Doses of SB-649868 on the Pharmacokinetics of Simvastatin and Atorvastatin in Healthy Male Volunteers. Completed NCT01299597 Phase 1 Atorvastatin;Simvastatin;SB649868
15 Effect of Different Boosting Agents on Pharmacokinetics of BILR 355 BS Dissolved in Polyethylene Glycol 400 (PEG 400) in Healthy Male Volunteers Completed NCT02257008 Phase 1 BILR 355 BS;Nelfinavir;Atazanavir;Ritonavir
16 Stability and Balance in Locomotion Through Exercise Completed NCT01856244 Phase 1
17 Bioequivalence and Food Effect Study in Healthy Volunteers Completed NCT00495274 Phase 1 Formulation A;Formulation B;Formulation C;Formulation D;Formulation E;Formulation F;Formulation G
18 Multiple Ascending Doses of PF-04958242 in Subjects With Stable Schizophrenia Completed NCT02332798 Phase 1 PF-04958242;Placebo;PF-04958242;Placebo
19 Study To Evaluate The Safety, Tolerability And Pharmacokinetics Of Single Doses Of PF-04958242 In Healthy Volunteers Completed NCT02228395 Phase 1 PF-04958242;Placebo
20 A Study to Evaluate the Effect of Itraconazole on the Pharmacokinetics of PF-04958242 in Healthy Subjects Completed NCT02341482 Phase 1 PF-04958242;Itraconazole
21 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752 Not Applicable
22 Exploring the Effectiveness of Sensor-based Balance Training on Patient Outcome Measures Unknown status NCT02777060 Not Applicable
23 The Role of Corticosteroids and Vestibular Exercises in Recovery of Vestibular Neuritis Unknown status NCT01231009 Early Phase 1 Corticosteroids
24 Electrical Stimulation and Chemotherapy Induced Peripheral Neuropathy Unknown status NCT02088996 Not Applicable
25 Applicability of Kinect Sensor® in the Rehabilitation of Balance in the Elderly Completed NCT02436837 Not Applicable
26 Analysis of Balance in the Aging Process Completed NCT00906711
27 Strengthening in Functional Mobility of Active Elderly Completed NCT02968030 Not Applicable
28 Improving Muscle Assessment in Older Adults - The "Can We Build a Better Mouse Trap?" Study Completed NCT02295241
29 Effects of a Fall Preventive Exercise Program on Intrinsic Fall Risk Factors in Healthy Older Adults. Completed NCT01906034 Not Applicable
30 Dual Task in Institutionalized Elderly Completed NCT02621697 Not Applicable
31 Impact of Xenazine(Tetrabenazine)on Gait and Functional Activity in Individuals With Huntington's Disease Completed NCT01451463
32 Balance Training After Stroke With REWIRE Completed NCT03282968 Not Applicable
33 Effect of Vestibular Rehabilitation - a Randomized Controlled Trial Completed NCT00702832 Not Applicable
34 Efficacy of Eccentric Resistance Training in Persons With Knee Osteoarthritis Completed NCT02350387 Not Applicable
35 Relationship Between Musculoskeletal, Sensorimotor and Functional Factors and Nonspecific Chronic Neck Pain Completed NCT02789631
36 Effects of Feet and Ankle Mobilization on Balance of Older Adults Completed NCT03092869 Not Applicable
37 Influences of Balance Training With a Dynamometric Platform in Total Knee Arthroplasty Completed NCT02734225 Not Applicable
38 Effects of Different Exercise Programs for People With Chronic Whiplash Associated Disorders Completed NCT01528579 Not Applicable
39 Effects of Treadmill Versus Cycling Endurance Training in Patients With COPD Completed NCT03120169 Not Applicable
40 Neck Muscle Activation in Patients With Long Standing Problems After a Whiplash Trauma Registered With Ultrasound With Speckle Tracking Completed NCT01547624 Not Applicable
41 Outcome of Physiotherapy After Surgery for Cervical Disc Disease: a Prospective Multi-Centre Trial Completed NCT01547611 Not Applicable
42 Robot Assisted Gait Training in Patients With Infratentorial Stroke Completed NCT02680691 Not Applicable
43 Morphea in Adults and Children (MAC) Cohort Study: A Morphea Registry and DNA Repository Recruiting NCT01808937
44 Effect of High Altitude Exposure, Acclimatization and Re-exposure on Postural Control in Lowlanders Recruiting NCT02730182 Not Applicable
45 Head-Mounted Vibrotactile Prosthesis for Patients With Chronic Postural Instability Recruiting NCT03330262 Not Applicable
46 Clinical Effect Size of an Educational Intervention in the Home and Compliance on People Who Suffer From Stroke Recruiting NCT01980641 Not Applicable
47 Sensorimotor Retraining in Chronic Stroke Recruiting NCT03058770 Not Applicable
48 Effects of Whole-Body Vibration Training Versus Balance Training in Patients With Severe Chronic Obstructive Pulmonary Disease Recruiting NCT03157986 Not Applicable
49 Using a Field Performance Test on an iPad to Evaluate Driving Under the Influence of Cannabis Recruiting NCT02849587 Not Applicable cannabis
50 Effectiveness of Commercial Video Games in Subacute Stroke Rehabilitation Recruiting NCT03528395 Not Applicable

Search NIH Clinical Center for Facial Hemiatrophy

Cochrane evidence based reviews: facial hemiatrophy

Genetic Tests for Facial Hemiatrophy

Anatomical Context for Facial Hemiatrophy

MalaCards organs/tissues related to Facial Hemiatrophy:

41
Testes, Brain, Breast, Heart, Eye, Thyroid

Publications for Facial Hemiatrophy

Articles related to Facial Hemiatrophy:

(show top 50) (show all 104)
# Title Authors Year
1
Overlap between linear scleroderma, progressive facial hemiatrophy and immune-inflammatory encephalitis in a paediatric cohort. ( 25851111 )
2015
2
Case of progressive facial hemiatrophy with cervical sympathetic hyperactivity as underlying aetiology. ( 22697810 )
2012
3
Pemphigoid gestationis in a female with progressive facial hemiatrophy: microchimerism as a speculative shared background is disputable. ( 22535610 )
2012
4
Microsurgical correction of progressive facial hemiatrophy using free anterolateral thigh adipofascial flap. ( 23154348 )
2012
5
Progressive facial hemiatrophy - a case series. ( 22121278 )
2011
6
Progressive facial hemiatrophy revisited: a role for sympathetic dysfunction. ( 21911700 )
2011
7
Three-dimensional imaging of progressive facial hemiatrophy (Parry-Romberg syndrome) with unusual conjunctival findings. ( 22232729 )
2011
8
Use of dissimilar trifocals to equalize fields of view for asymmetric orbital positions secondary to progressive facial hemiatrophy. ( 20736869 )
2011
9
Trigeminal neuropathic pain in a patient with progressive facial hemiatrophy (parry-romberg syndrome). ( 21747035 )
2011
10
Superficial temporal fascial flap plus lipofilling for facial contour reconstruction in bilateral progressive facial hemiatrophy. ( 20333522 )
2010
11
Teaching NeuroImages: progressive facial hemiatrophy (Parry-Romberg syndrome) with ipsilateral cerebral hemiatrophy. ( 20083791 )
2010
12
Ellis-van Creveld syndrome with facial hemiatrophy. ( 20445298 )
2010
13
Progressive facial hemiatrophy with associated osseous lesions. ( 18059248 )
2007
14
Clinical and serological characteristics of progressive facial hemiatrophy: a case series of 12 patients. ( 16443052 )
2006
15
Rare cause of facial asymmetry. Progressive facial hemiatrophy. ( 15842131 )
2005
16
Progressive facial hemiatrophy complicated by sclerodactyly, Raynaud's phenomenon, anti-ribonucleoprotein antibody, and trigeminal nerve disturbance. ( 17029062 )
2005
17
Long-lasting follow-up favours a close relationship between progressive facial hemiatrophy and scleroderma en coup de sabre. ( 15987282 )
2005
18
Late-onset progressive facial hemiatrophy (Parry-Romberg syndrome). ( 16006711 )
2005
19
Progressive facial hemiatrophy: a complex disorder not only affecting the face. A report in a monozygotic male twin pair. ( 15918232 )
2004
20
Facial hemiatrophy--a report of 5 cases. ( 15328992 )
2003
21
Progressive facial hemiatrophy: central nervous system involvement and relationship with scleroderma en coup de sabre. ( 12966605 )
2003
22
Scleroderma 'en coup de sabre' and progressive facial hemiatrophy. Is it possible to differentiate them? ( 12224693 )
2002
23
Progressive facial hemiatrophy associated with an astrocytoma in the cerebellopontine region. ( 11381396 )
2001
24
Progressive facial hemiatrophy (Parry-Romberg syndrome). ( 11820053 )
2001
25
Hemimasticatory spasm associated with localized scleroderma and facial hemiatrophy. ( 10768634 )
2000
26
Progressive facial hemiatrophy after epileptic seizures. ( 11020643 )
2000
27
Progressive facial hemiatrophy (Parry-Romberg syndrome). ( 10570563 )
1999
28
Linear scleroderma en Coup de Sabre. Relationship with progressive facial hemiatrophy (PFH). ( 10599329 )
1999
29
Progressive facial hemiatrophy: abnormality of intracranial vasculature. ( 9633763 )
1998
30
Progressive facial hemiatrophy and epilepsy: a common underlying dysgenetic mechanism. ( 9109892 )
1997
31
Progressive facial hemiatrophy: MRI appearances. ( 9285440 )
1997
32
Clinical and radiologic findings in progressive facial hemiatrophy (Parry-Romberg syndrome). ( 9127045 )
1997
33
Neurologic abnormalities in two patients with facial hemiatrophy and sclerosis coexisting with morphea. ( 9144696 )
1997
34
Otorhinolaryngological complications of progressive facial hemiatrophy (Romberg's disease). ( 8534023 )
1995
35
Progressive facial hemiatrophy with multiple benign tumors and hamartomas. ( 8719745 )
1995
36
Central sympathetic dysregulation and immunological abnormalities in a case of progressive facial hemiatrophy (Parry-Romberg disease). ( 8520214 )
1995
37
MR of brain involvement in progressive facial hemiatrophy (Romberg disease): reconsideration of a syndrome. ( 8141046 )
1994
38
Duane's retraction syndrome with facial hemiatrophy. ( 8294337 )
1993
39
[Cerebral manifestations of progressive facial hemiatrophy (Romberg's disease). Nuclear spin tomographic findings and literature review]. ( 8234672 )
1993
40
Progressive facial hemiatrophy: report of five cases and biochemical analysis of connective tissue. ( 1446085 )
1992
41
The Parry Romberg syndrome of progressive facial hemiatrophy and linear scleroderma en coup de sabre. Mistaken diagnosis or overlapping conditions? ( 1404118 )
1992
42
Facial hemiatrophy. ( 1506105 )
1992
43
Intracranial findings in progressive facial hemiatrophy. ( 1404134 )
1992
44
Progressive facial hemiatrophy with localized scleroderma. ( 1440658 )
1992
45
[Facial hemiatrophy, homolateral cervical linear scleroderma and thyroid disease]. ( 1485755 )
1992
46
Progressive facial hemiatrophy (Parry-Romberg syndrome) and antibodies to Borrelia. ( 1918499 )
1991
47
Facial hemiatrophy. Report of two cases. ( 1880104 )
1991
48
Surgical treatment of progressive facial hemiatrophy. ( 1696052 )
1990
49
Duane's retraction syndrome with facial hemiatrophy (a case report). ( 2097359 )
1990
50
Progressive facial hemiatrophy (Parry-Romberg syndrome) and borreliosis. ( 2107220 )
1990

Variations for Facial Hemiatrophy

Expression for Facial Hemiatrophy

Search GEO for disease gene expression data for Facial Hemiatrophy.

Pathways for Facial Hemiatrophy

GO Terms for Facial Hemiatrophy

Sources for Facial Hemiatrophy

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
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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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