MCID: FCL003
MIFTS: 30

Facial Hemiatrophy malady

Categories: Neuronal diseases

Aliases & Classifications for Facial Hemiatrophy

Aliases & Descriptions for Facial Hemiatrophy:

Name: Facial Hemiatrophy 12 42 14 69
Parry-Romberg Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1757
MeSH 42 D005150
SNOMED-CT 64 29868009 95834000
UMLS 69 C0015458

Summaries for Facial Hemiatrophy

MalaCards based summary : Facial Hemiatrophy, also known as parry-romberg syndrome, is related to hemifacial atrophy, progressive and pleomorphic lipoma, and has symptoms including ataxia and oral manifestations. An important gene associated with Facial Hemiatrophy is PRRT2 (Proline Rich Transmembrane Protein 2). The drugs Bupivacaine and Levobupivacaine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and eye.

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 63)
id Related Disease Score Top Affiliating Genes
1 hemifacial atrophy, progressive 11.1
2 pleomorphic lipoma 10.2 ARHGEF1 HMGA2
3 vaginal mullerian papilloma 10.2 CD40LG SLC4A1
4 submandibular gland disease 10.1 CD40LG HMGA2
5 acute serous otitis media 10.1 ARHGEF1 KANTR
6 partial sensory epilepsy 10.1 CD40LG TRIM21
7 ampulla of vater adenosquamous carcinoma 10.1 ARHGEF1 KANTR
8 atypical autism 10.1 CD40LG COL17A1
9 pelvic lipomatosis 10.1 HMGA2 KANTR
10 oral cavity cancer 10.1 CD40LG COL17A1
11 abducens nerve disease 10.1 CD40LG TRIM21
12 diabetes and deafness, maternally inherited 10.1 KANTR TRIM21
13 spinal canal and spinal cord meningioma 10.1 CD40LG KANTR
14 oropharynx cancer 10.1 CD40LG COL17A1
15 powassan encephalitis 10.1 CD40LG TRIM21
16 pancreatic signet ring cell adenocarcinoma 10.1 CD40LG SNRNP70
17 homocystinuria 10.1 CD40LG KANTR
18 spotted fever 10.1 CD40LG KANTR
19 anal canal adenocarcinoma 10.1 CD40LG KANTR
20 oropharyngeal anthrax 10.0 CD40LG KANTR
21 benign paroxysmal positional nystagmus 10.0 CD40LG KANTR
22 cardiovascular cancer 10.0 CD40LG KANTR
23 hidrocystoma 10.0 CD40LG KANTR
24 hypolipoproteinemia 10.0 CD40LG KANTR
25 peripheral nervous system neoplasm 10.0 COL17A1 KANTR
26 central retinal artery occlusion 10.0 CD40LG KANTR
27 linear scleroderma 10.0
28 placental insufficiency 10.0 CD40LG KANTR
29 articulation disorder 10.0 CD40LG COL17A1 TRIM21
30 acinic cell breast carcinoma 10.0 CD40LG KANTR
31 lymph node adenoid cystic carcinoma 9.9 CD40LG TRIM21
32 chorioretinitis 9.9 CD40LG SNRNP70 TRIM21
33 generalized dystonia 9.9 CD40LG KANTR TRIM21
34 ureteral lymphoma 9.9 CD40LG COL17A1
35 localized scleroderma 9.8
36 cervicitis 9.8
37 cerebritis 9.8
38 diffuse scleroderma 9.8 EXOSC10 SNRNP70
39 herpes simplex 9.8 EXOSC10 SNRNP70
40 testicular lymphoma 9.8 CD40LG EXOSC10 SNRNP70
41 alopecia 9.7
42 keratopathy 9.7
43 encephalitis 9.7
44 systemic scleroderma 9.7
45 juvenile glaucoma 9.7
46 pemphigoid gestationis 9.7
47 sarcoma 9.7
48 cardiomyopathy 9.7
49 enophthalmos 9.7
50 headache 9.7

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

Drugs & Therapeutics for Facial Hemiatrophy

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

(show all 27)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 3 2180-92-9, 38396-39-3 2474
2
Levobupivacaine Approved Phase 3 27262-47-1 92253
3
Sufentanil Approved, Investigational Phase 3 56030-54-7 41693
4 Adjuvants, Anesthesia Phase 3
5 Analgesics Phase 3
6 Analgesics, Opioid Phase 3
7 Anesthetics Phase 3
8 Anesthetics, General Phase 3
9 Anesthetics, Intravenous Phase 3
10 Anesthetics, Local Phase 3
11 Central Nervous System Depressants Phase 3
12 Narcotics Phase 3
13 Peripheral Nervous System Agents Phase 3
14
Substance P Investigational Phase 2 33507-63-0 44359816
15 neurokinin A Phase 2
16 Neurokinin-1 Receptor Antagonists Phase 2
17 Neurotransmitter Agents Phase 2
18 Vestipitant Phase 2 334476-46-9
19
Simvastatin Approved Phase 1 79902-63-9 54454
20 Anticholesteremic Agents Phase 1
21 Antimetabolites Phase 1
22 Atorvastatin Calcium Phase 1 134523-03-8
23 Calcium, Dietary Phase 1
24 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1
25 Hypolipidemic Agents Phase 1
26 Lipid Regulating Agents Phase 1
27
Menthol Approved 2216-51-5 16666

Interventional clinical trials:

(show all 27)
id Name Status NCT ID Phase
1 Trial Comparing Navigated and Conventional Implantation Techniques in Knee Replacement Surgery Unknown status NCT00431509 Phase 4
2 Effects of an Aquatic Therapy Program Versus a Land Program in Patients Who Suffered a Stroke Completed NCT02999971 Phase 3
3 Deambulatory Epidural During the Labour Recruiting NCT02264834 Phase 3
4 The Effect of Human Adipose Tissue-derived MSCs in Romberg's Disease Completed NCT01309061 Phase 2
5 Vestipitant 28-day Tolerance Study Completed NCT00992160 Phase 2
6 To Evaluate The Effects Of SB-649868 (10, 30 Mg And 60 Mg) On Subjects With Primary Insomnia Completed NCT00426816 Phase 2
7 Study to Investigate Safety, Tolerability, Pharmacokinetics and Cardiac Function After Repeat Doses of SB-649868 in Healthy-volunteers Completed NCT01030939 Phase 1
8 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
9 Bioequivalence and Food Effect Study in Healthy Volunteers Completed NCT00495274 Phase 1
10 Applicability of Kinect Sensor® in the Rehabilitation of Balance in the Elderly Completed NCT02436837
11 Analysis of Balance in the Aging Process Completed NCT00906711
12 Improving Muscle Assessment in Older Adults - The "Can We Build a Better Mouse Trap?" Study Completed NCT02295241
13 Strengthening in Functional Mobility of Active Elderly Completed NCT02968030
14 Effects of a Fall Preventive Exercise Program on Intrinsic Fall Risk Factors in Healthy Older Adults. Completed NCT01906034
15 Relationship Between Musculoskeletal, Sensorimotor and Functional Factors and Nonspecific Chronic Neck Pain Completed NCT02789631
16 Influences of Balance Training With a Dynamometric Platform in Total Knee Arthroplasty Completed NCT02734225
17 Efficacy of Eccentric Resistance Training in Persons With Knee Osteoarthritis Completed NCT02350387
18 Morphea in Adults and Children (MAC) Cohort Study: A Morphea Registry and DNA Repository Recruiting NCT01808937
19 Effect of High Altitude Exposure, Acclimatization and Re-exposure on Postural Control in Lowlanders Recruiting NCT02730182
20 Clinical Effect Size of an Educational Intervention in the Home and Compliance on People Who Suffer From Stroke Recruiting NCT01980641
21 Effects of Treadmill Versus Cycling Endurance Training in Patients With COPD Recruiting NCT03120169
22 Effects of Whole-Body Vibration Training Versus Balance Training in Patients With Severe Chronic Obstructive Pulmonary Disease Recruiting NCT03157986
23 IBDSL Biobank Project. Molecular Markers for Diagnosis and Therapy Response in IBD. Recruiting NCT02130349
24 Effect of Oculomotor and Gaze Stability Exercises on the Improvement of Balance After Stroke Enrolling by invitation NCT02280980
25 Comparative Study About the Effect of Aquatic Therapy vs Land-based Therapy in Women With Fibromyalgia Enrolling by invitation NCT02695875
26 Role of Mesenchymal Stem Cells in Fat Grafting Not yet recruiting NCT02494752
27 The Effect of Obstructive Sleep Apnea Treatment on Dizziness, Vertigo Withdrawn NCT02685579

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:

39
Brain, Heart, Eye, Breast

Publications for Facial Hemiatrophy

Articles related to Facial Hemiatrophy:

(show top 50) (show all 103)
id Title Authors Year
1
Overlap between linear scleroderma, progressive facial hemiatrophy and immune-inflammatory encephalitis in a paediatric cohort. ( 25851111 )
2015
2
Pemphigoid gestationis in a female with progressive facial hemiatrophy: microchimerism as a speculative shared background is disputable. ( 22535610 )
2012
3
Case of progressive facial hemiatrophy with cervical sympathetic hyperactivity as underlying aetiology. ( 22697810 )
2012
4
Microsurgical correction of progressive facial hemiatrophy using free anterolateral thigh adipofascial flap. ( 23154348 )
2012
5
Trigeminal neuropathic pain in a patient with progressive facial hemiatrophy (parry-romberg syndrome). ( 21747035 )
2011
6
Progressive facial hemiatrophy - a case series. ( 22121278 )
2011
7
Use of dissimilar trifocals to equalize fields of view for asymmetric orbital positions secondary to progressive facial hemiatrophy. ( 20736869 )
2011
8
Three-dimensional imaging of progressive facial hemiatrophy (Parry-Romberg syndrome) with unusual conjunctival findings. ( 22232729 )
2011
9
Progressive facial hemiatrophy revisited: a role for sympathetic dysfunction. ( 21911700 )
2011
10
Ellis-van Creveld syndrome with facial hemiatrophy. ( 20445298 )
2010
11
Teaching NeuroImages: progressive facial hemiatrophy (Parry-Romberg syndrome) with ipsilateral cerebral hemiatrophy. ( 20083791 )
2010
12
Superficial temporal fascial flap plus lipofilling for facial contour reconstruction in bilateral progressive facial hemiatrophy. ( 20333522 )
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
Late-onset progressive facial hemiatrophy (Parry-Romberg syndrome). ( 16006711 )
2005
16
Rare cause of facial asymmetry. Progressive facial hemiatrophy. ( 15842131 )
2005
17
Long-lasting follow-up favours a close relationship between progressive facial hemiatrophy and scleroderma en coup de sabre. ( 15987282 )
2005
18
Progressive facial hemiatrophy complicated by sclerodactyly, Raynaud's phenomenon, anti-ribonucleoprotein antibody, and trigeminal nerve disturbance. ( 17029062 )
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
Neurologic abnormalities in two patients with facial hemiatrophy and sclerosis coexisting with morphea. ( 9144696 )
1997
31
Clinical and radiologic findings in progressive facial hemiatrophy (Parry-Romberg syndrome). ( 9127045 )
1997
32
Progressive facial hemiatrophy: MRI appearances. ( 9285440 )
1997
33
Progressive facial hemiatrophy and epilepsy: a common underlying dysgenetic mechanism. ( 9109892 )
1997
34
Central sympathetic dysregulation and immunological abnormalities in a case of progressive facial hemiatrophy (Parry-Romberg disease). ( 8520214 )
1995
35
Otorhinolaryngological complications of progressive facial hemiatrophy (Romberg's disease). ( 8534023 )
1995
36
Progressive facial hemiatrophy with multiple benign tumors and hamartomas. ( 8719745 )
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
Intracranial findings in progressive facial hemiatrophy. ( 1404134 )
1992
40
Facial hemiatrophy. ( 1506105 )
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
Progressive facial hemiatrophy with localized scleroderma. ( 1440658 )
1992
43
Progressive facial hemiatrophy: report of five cases and biochemical analysis of connective tissue. ( 1446085 )
1992
44
Facial hemiatrophy. Report of two cases. ( 1880104 )
1991
45
Progressive facial hemiatrophy (Parry-Romberg syndrome) and antibodies to Borrelia. ( 1918499 )
1991
46
Duane's retraction syndrome with facial hemiatrophy (a case report). ( 2097359 )
1990
47
Surgical treatment of progressive facial hemiatrophy. ( 1696052 )
1990
48
Progressive facial hemiatrophy (Parry-Romberg syndrome) and borreliosis. ( 2107220 )
1990
49
Facial hemiatrophy (Parry-Romberg syndrome) and hypertrophic cardiomyopathy. ( 3182718 )
1988
50
A case of facial hemiatrophy associated with linear scleroderma and homolateral masseter spasm. ( 3570725 )
1987

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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