MCID: HMF008
MIFTS: 38

Hemifacial Atrophy, Progressive malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Hemifacial Atrophy, Progressive

About this section

Aliases & Descriptions for Hemifacial Atrophy, Progressive:

Name: Hemifacial Atrophy, Progressive 52 48 35
Progressive Hemifacial Atrophy 35 48 49 54
Facial Hemiatrophy 11 39 13 68
Parry-Romberg Syndrome 11 48 54
Progressive Facial Hemiatrophy 54
Romberg Hemi-Facial Atrophy 48
 
Pelger-Huet Anomaly 68
Hemifacial Atrophy 54
Romberg Syndrome 54
Parry-Romberg 49
Pha 54

Characteristics:

Orphanet epidemiological data:

54
progressive hemifacial atrophy:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (United States); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy

HPO:

64
hemifacial atrophy, progressive:
Onset and clinical course: onset
Inheritance: sporadic

Classifications:



External Ids:

OMIM52 141300
Disease Ontology11 DOID:1757
MeSH39 D005150
SNOMED-CT62 29868009, 95834000
Orphanet54 ORPHA1214
ICD10 via Orphanet31 G51.8

Summaries for Hemifacial Atrophy, Progressive

About this section
NINDS:49 Parry-Romberg syndrome is a rare disorder characterized by slowly progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy), usually the left side. It is more common in females than in males. Initial facial changes usually involve the tissues above the upper jaw (maxilla) or between the nose and the upper corner of the lip (nasolabial fold) and subsequently progress to the angle of the mouth, areas around the eye, the brow, the ear, and the neck. The deterioration may also affect the tongue, the soft and fleshy part of the roof of the mouth, and the gums. The eye and cheek of the affected side may become sunken and facial hair may turn white and fall out (alopecia). In addition, the skin overlying affected areas may become darkly pigmented (hyperpigmentation) with, in some cases, areas of hyperpigmentation and patches of unpigmented skin (vitiligo). Parry-Romberg syndrome is also accompanied by neurological abnormalities including seizures and episodes of severe facial pain (trigeminal neuralgia). The onset of the disease usually begins between the ages of 5 and 15 years. The progression of the atrophy often lasts from 2 to 10 years, and then the process seems to enter a stable phase. Muscles in the face may atrophy and there may be bone loss in the facial bones. Problems with the retina and optic nerve may occur when the disease surrounds the eye.

MalaCards based summary: Hemifacial Atrophy, Progressive, also known as progressive hemifacial atrophy, is related to hemifacial atrophy agenesis of the caudate nucleus and pelger-huet anomaly, and has symptoms including micrognathia, irregular hyperpigmentation and seizures. An important gene associated with Hemifacial Atrophy, Progressive is LBR (Lamin B Receptor). Affiliated tissues include skin, eye and tongue.

NIH Rare Diseases:48 Progressive hemifacial atrophy, also known as Parry-Romberg syndrome (PRS), is characterized by one side of the face becoming progressively sunken and wrinkled over 2 to 20 years and then stabilizing. The disease usually begins around age 10 years old, but progressive hemifacial atrophy can occur as early as infancy or as late as age 40 to 50 years. The severity of progressive hemifacial atrophy varies greatly. Although the causes of progressive hemifacial atrophy are unknown, medical researchers believe the causes are not the same for everyone. Progressive hemifacial atrophy occasionally involves the arm, trunk, and leg, and is sometimes bilateral.  Progressive hemifacial atrophy is often associated with a localized scleroderma called linear scleroderma en coupe de sabre (LSCS). Medical researchers think that progressive hemifacial atrophy can be categorized as a subset of linear scleroderma and may be actually part of a range of disorders (spectrum) which includes LSCS.  Due to its relationship to linear scleroderma, while the progressive hemifacial atrophys is progressing, treatment may include systemic medications used to treat other forms of linear scleroderma. After progressive hemifacial atrophy has stabilized, treatment may involve reconstructive or microvascular surgery. Last updated: 1/6/2017

Wikipedia:71 Parry–Romberg syndrome (also known as progressive hemifacial atrophy) is a rare disease characterized... more...

Description from OMIM:52 141300

Related Diseases for Hemifacial Atrophy, Progressive

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Diseases related to Hemifacial Atrophy, Progressive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1hemifacial atrophy agenesis of the caudate nucleus11.9
2pelger-huet anomaly11.8
3pseudohypoaldosteronism type i, autosomal dominant11.5
4pseudohypoaldosteronism11.1
5pseudohypoaldosteronism, type i10.9
6greenberg skeletal dysplasia10.9
7immunodeficiency-centromeric instability-facial anomalies syndrome 110.8
8liver lipoma10.4ARHGEF1, HMGA2
9crater-like holes of optic disc10.2CD40LG, SLC4A1
10autism spectrum disorder10.2CD40LG, COL17A1
11adenosquamous breast carcinoma10.2ARHGEF1, KANTR
12impetigo10.2CD40LG, COL17A1
13malignant histiocytosis10.2CD40LG, COL17A1
14steroid lipomatosis10.2HMGA2, KANTR
15autoimmune disease of cardiovascular system10.2CD40LG, LBR
16partial third-nerve palsy10.1CD40LG, TRIM21
17tracheopathia osteoplastica10.1KANTR, TRIM21
18heart disease10.0CD40LG, KANTR
19rickettsialpox10.0CD40LG, KANTR
20pompholyx10.0CD40LG, KANTR
21brachial plexus neuropathy10.0CD40LG, KANTR
22rocky mountain spotted fever10.0CD40LG, KANTR
23tinea cruris10.0COL17A1, KANTR
24urinary schistosomiasis10.0CD40LG, KANTR
25american histoplasmosis10.0CD40LG, KANTR
26retinitis10.0
27blood group incompatibility10.0CD40LG, COL17A1, TRIM21
28lynch syndrome9.9CD40LG, KANTR
29tick-borne encephalitis9.9CD40LG, TRIM21
30sporotrichosis9.9CD40LG, COL17A1
31lymphoma9.9
32intracranial aneurysm9.9
33uveitis9.9
34aneurysm9.9
35intestinal pseudo-obstruction9.9CD40LG, KANTR
36pleurisy9.8
37pancreatitis9.8
38oesophagostomiasis9.8CD40LG, KANTR
39retinitis pigmentosa9.7
40enophthalmos9.7
41retinal vasculitis9.7
42lyme disease9.7
43localized scleroderma9.7
44vasculitis9.7
45lupus erythematosus9.7
46craniofacial microsomia9.7
47hemiplegic migraine9.7
48linear scleroderma9.7
49spasmodic dysphonia9.7
50respiratory system disease9.7EXOSC10, SNRNP70

Graphical network of the top 20 diseases related to Hemifacial Atrophy, Progressive:



Diseases related to hemifacial atrophy, progressive

Symptoms & Phenotypes for Hemifacial Atrophy, Progressive

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Symptoms by clinical synopsis from OMIM:

141300

Clinical features from OMIM:

141300

Human phenotypes related to Hemifacial Atrophy, Progressive:

 64 54 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia64 54 hallmark (90%) Very frequent (99-80%) HP:0000347
2 irregular hyperpigmentation64 54 hallmark (90%) Very frequent (99-80%) HP:0007400
3 seizures64 54 typical (50%) Frequent (79-30%) HP:0001250
4 abnormality of the musculature64 54 typical (50%) Frequent (79-30%) HP:0003011
5 aplasia/hypoplasia of the skin64 54 typical (50%) Frequent (79-30%) HP:0008065
6 asymmetric growth64 54 typical (50%) Frequent (79-30%) HP:0100555
7 deeply set eye64 54 occasional (7.5%) Occasional (29-5%) HP:0000490
8 ptosis64 54 occasional (7.5%) Occasional (29-5%) HP:0000508
9 heterochromia iridis64 54 occasional (7.5%) Occasional (29-5%) HP:0001100
10 blepharophimosis64 HP:0000581
11 delayed eruption of teeth64 HP:0000684
12 dental malocclusion64 HP:0000689
13 ataxia64 HP:0001251
14 migraine64 HP:0002076
15 alopecia areata64 HP:0002229
16 horner syndrome64 HP:0002277
17 poliosis64 HP:0002290
18 kyphosis64 HP:0002808
19 short mandibular rami64 HP:0003778
20 microtia64 HP:0008551
21 hemifacial atrophy64 HP:0011331
22 trigeminal neuralgia64 HP:0100661
23 facial asymmetry54 Very frequent (99-80%)

UMLS symptoms related to Hemifacial Atrophy, Progressive:


oral manifestations, ataxia

Drugs & Therapeutics for Hemifacial Atrophy, Progressive

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Drugs for Hemifacial Atrophy, Progressive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sufentanilapproved, investigationalPhase 317556030-54-741693
Synonyms:
56030-54-7
60561-17-3 (citrate)
AC1L26AJ
AC1Q5I7B
C08022
C22H30N2O2S
CHEBI:127638
CHEBI:9316
CHEMBL658
CID41693
Chronogesic
D05938
DB00708
HSDB 6760
L000580
LS-175693
MolPort-004-286-008
N-(4-(Methoxymethyl)-1-(2-(2-thienyl)ethyl)-4-piperidinyl)-N-phenylpropanamide
N-(4-(Methoxymethyl)-1-(2-(2-thienyl)ethyl)-4-piperidyl)propionanilide
 
N-[4-(methoxymethyl)-1-(2-thiophen-2-ylethyl)piperidin-4-yl]-N-phenylpropanamide
N-{4-(methoxymethyl)-1-[2-(2-thienyl)ethyl]piperidin-4-yl}-N-phenylpropanamide
N-{4-[(methyloxy)methyl]-1-[2-(2-thienyl)ethyl]piperidin-4-yl}-N-phenylpropanamide
Oprea1_120838
Oprea1_246787
PDSP1_001741
PDSP2_001724
R 30730
R-30730
SUFENTANIL
Sufentanil
Sufentanil (USAN/INN)
Sufentanil Citrate
Sufentanil [USAN:BAN:INN]
Sufentanilo
Sufentanilum
Sufentanilum [INN-Latin]
Sufentanyl
Sulfentanil
Sulfentanyl
UNII-AFE2YW0IIZ
2
LevobupivacaineapprovedPhase 316527262-47-192253
Synonyms:
(-)-Bupivacaine
(-)-bupivacaine
(2S)-1-butyl-N-(2,6-dimethylphenyl)piperidine-2-carboxamide
(S)-1-Butyl-2',6'-pipecoloxylidide
(S)-Bupivacaine
(S)-bupivacaine
27262-47-1
27262-48-2
AC1L3NQM
BIDD:GT0471
C07887
C18H28N2O
CAS-18010-40-7
CHEBI:6149
CID92253
D08116
 
DB01002
L(-)-Bupivacaine
L-(-)-1-Butyl-2',6'-pipecoloxylidide
L-(-)-Bupivacaine
L-(-)-bupivacaine
LS-109843
LS-187025
LS-187789
Levobupivacaine
Levobupivacaine (INN)
Levobupivacaine [INN:BAN]
Levobupivacaine hydrochloride
MolPort-004-959-713
NCGC00016733-01
NCGC00159482-02
Novabupi
Novabupi (TN)
3
Bupivacaineapproved, investigationalPhase 311312180-92-9, 38396-39-32474
Synonyms:
( inverted exclamation markA)-bupivacaine
(+-)-Bupivacaine
(1)-1-Butyl-N-(2,6-dimethylphenyl)piperidine-2-carboxamide
(RS)-bupivacaine
(±)-bupivacaine
1-Butyl-2',6'-pipecoloxylidide
1-Butyl-N-(2,6-dimethylphenyl)-2-piperidinecarboxamide
1-butyl-N-(2,6-dimethylphenyl)piperidine-2-carboxamide
15233-43-9
2180-92-9
38396-39-3
AB00053674
AC-2096
AC1L1DRE
AC1Q5LX4
AH 250
AKOS001637202
AR-1A0242
Anekain
BPBio1_000298
BRD-A01636364-003-05-2
BSPBio_000270
BSPBio_002607
Bio-0886
Bloqueina
Bucaine
Bucaine (TN)
Bupivacaina
Bupivacaina [INN-Spanish]
Bupivacaine (INN)
Bupivacaine Carbonate
Bupivacaine HCL
Bupivacaine HCL KIT
Bupivacaine Monohydrochloride, Monohydrate
Bupivacaine [INN:BAN]
Bupivacainum
Bupivacainum [INN-Latin]
Bupivan
C07529
C18H28N2O
CBupivacaine
CHEBI:3215
CHEMBL1098
CID2474
Carbostesin
D07552
DB00297
DL-Bupivacaine
DUR-843
 
DepoBupivacaine
DivK1c_000758
EINECS 218-553-3
EINECS 253-911-2
HMS2090F12
IDI1_000758
KBio1_000758
KBio2_002004
KBio2_004572
KBio2_007140
KBio3_001827
KBioGR_001516
KBioSS_002004
KST-1A4609
L000695
LAC-43
LS-109841
LS-2222
MLS001361336
Marcaina
Marcaine
Marcaine HCL
Marcaine Spinal
MolPort-004-955-820
NCGC00178579-01
NCGC00178579-02
NINDS_000758
NSC119660
Prestwick0_000305
Prestwick1_000305
Prestwick2_000305
Prestwick3_000305
SMR000058218
SPBio_001558
SPBio_002489
Sensorcaine
Sensorcaine-MPF
Sensorcaine-MPF Spinal
Spectrum2_001589
Spectrum3_000974
Spectrum4_001098
Spectrum5_001483
Spectrum_001524
Transdur-Bupivacaine
UNII-Y8335394RO
Win 11318
Win 11318 HCl
bupivacaine
cBupivacaine
dl-1-Butyl-2',6'-pipecoloxylidide
racemic bupivacaine
4NarcoticsPhase 33486
5Peripheral Nervous System AgentsPhase 322776
6AnalgesicsPhase 311287
7Adjuvants, AnesthesiaPhase 31588
8Analgesics, OpioidPhase 33091
9Central Nervous System DepressantsPhase 312806
10Anesthetics, GeneralPhase 32787
11Anesthetics, IntravenousPhase 32406
12Anesthetics, LocalPhase 33272
13AnestheticsPhase 39001
14
Substance PinvestigationalPhase 224533507-63-044359816
Synonyms:
 
Arg-Pro-Lys-Pro-Gln-Gln-Phe-Phe-Gly-Leu-Met-NH2
15VestipitantPhase 29334476-46-9
16Neurokinin-1 Receptor AntagonistsPhase 2215
17neurokinin APhase 2249
18Neurotransmitter AgentsPhase 217734
19
SimvastatinapprovedPhase 151079902-63-954454
Synonyms:
(+)-Simvastatin
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
79902-63-9
AC-1530
AC1L1H1F
AKOS005111006
ARONIS24119
BCBcMAP01_000007
BIDD:GT0769
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
Eucor
HMS1570N11
HMS1922H13
HMS2089D12
HMS2093E06
HSDB 7208
InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1
KBio1_001935
KBio2_002197
KBio2_004765
KBio2_007333
KBio3_001557
KBioGR_001244
KBioSS_002197
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate
butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta
nchembio790-comp16
simvastatin
20Hypolipidemic AgentsPhase 12721
21Lipid Regulating AgentsPhase 12702
22Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 11956
23Calcium, DietaryPhase 15525
24AntimetabolitesPhase 111774
25Anticholesteremic AgentsPhase 11983
26Atorvastatin CalciumPhase 1743134523-03-8
27
Mentholapproved23532216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
28Antipruritics864
29Dermatologic Agents5674

Interventional clinical trials:

(show all 25)
idNameStatusNCT IDPhase
1Trial Comparing Navigated and Conventional Implantation Techniques in Knee Replacement SurgeryUnknown statusNCT00431509Phase 4
2Effects of an Aquatic Therapy Program Versus a Land Program in Patients Who Suffered a StrokeCompletedNCT02999971Phase 3
3Deambulatory Epidural During the LabourRecruitingNCT02264834Phase 3
4The Effect of Human Adipose Tissue-derived MSCs in Romberg's DiseaseCompletedNCT01309061Phase 2
5Vestipitant 28-day Tolerance StudyCompletedNCT00992160Phase 2
6To Evaluate The Effects Of SB-649868 (10, 30 Mg And 60 Mg) On Subjects With Primary InsomniaCompletedNCT00426816Phase 2
7Study to Investigate Safety, Tolerability, Pharmacokinetics and Cardiac Function After Repeat Doses of SB-649868 in Healthy-volunteersCompletedNCT01030939Phase 1
8A 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.CompletedNCT01299597Phase 1
9Bioequivalence and Food Effect Study in Healthy VolunteersCompletedNCT00495274Phase 1
10Applicability of Kinect Sensor® in the Rehabilitation of Balance in the ElderlyCompletedNCT02436837
11Analysis of Balance in the Aging ProcessCompletedNCT00906711
12Improving Muscle Assessment in Older Adults - The "Can We Build a Better Mouse Trap?" StudyCompletedNCT02295241
13Strengthening in Functional Mobility of Active ElderlyCompletedNCT02968030
14Effects of a Fall Preventive Exercise Program on Intrinsic Fall Risk Factors in Healthy Older Adults.CompletedNCT01906034
15Influences of Balance Training With a Dynamometric Platform in Total Knee ArthroplastyCompletedNCT02734225
16Clinical Effect Size of an Educational Intervention in the Home and Compliance on People Who Suffer From StrokeCompletedNCT01980641
17Efficacy of Eccentric Resistance Training in Persons With Knee OsteoarthritisCompletedNCT02350387
18Morphea in Adults and Children (MAC) Cohort Study: A Morphea Registry and DNA RepositoryRecruitingNCT01808937
19Effect of High Altitude Exposure, Acclimatization and Re-exposure on Postural Control in LowlandersRecruitingNCT02730182
20Relationship Between Musculoskeletal, Sensorimotor and Functional Factors and Nonspecific Chronic Neck PainRecruitingNCT02789631
21IBDSL Biobank Project. Molecular Markers for Diagnosis and Therapy Response in IBD.RecruitingNCT02130349
22Effect of Oculomotor and Gaze Stability Exercises on the Improvement of Balance After StrokeEnrolling by invitationNCT02280980
23Comparative Study About the Effect of Aquatic Therapy vs Land-based Therapy in Women With FibromyalgiaEnrolling by invitationNCT02695875
24Role of Mesenchymal Stem Cells in Fat GraftingNot yet recruitingNCT02494752
25The Effect of Obstructive Sleep Apnea Treatment on Dizziness, VertigoWithdrawnNCT02685579

Search NIH Clinical Center for Hemifacial Atrophy, Progressive

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Hemifacial Atrophy, Progressive cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Hemifacial Atrophy, Progressive:
RNL-Astrostem
Embryonic/Adult Cultured Cells Related to Hemifacial Atrophy, Progressive:
Adipose-derived mesenchymal stem cells , PMIDs: 21303266, 24341080


Cochrane evidence based reviews: facial hemiatrophy

Genetic Tests for Hemifacial Atrophy, Progressive

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Anatomical Context for Hemifacial Atrophy, Progressive

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MalaCards organs/tissues related to Hemifacial Atrophy, Progressive:

36
Skin, Eye, Tongue, Retina, Bone

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Hemifacial Atrophy, Progressive:
id TissueAnatomical CompartmentCell Relevance
1 AdiposeSubcutaneous White AdiposeMesenchymal Stem Cells  
2 AdiposeSubcutaneous White AdiposeStromal Cells Potential therapeutic candidate

Publications for Hemifacial Atrophy, Progressive

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Variations for Hemifacial Atrophy, Progressive

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Clinvar genetic disease variations for Hemifacial Atrophy, Progressive:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LBRNM_194442.2(LBR): c.32_35delTGGT (p.Val11Glufs)deletionPathogenicrs863223326GRCh37Chr 1, 225611743: 225611746
2LBRNM_194442.2(LBR): c.1599_1605delTCTTCTAinsCTAGAAG (p.Leu534Ter)indelPathogenicrs387906416GRCh37Chr 1, 225592188: 225592194

Expression for genes affiliated with Hemifacial Atrophy, Progressive

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Search GEO for disease gene expression data for Hemifacial Atrophy, Progressive.

Pathways for genes affiliated with Hemifacial Atrophy, Progressive

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GO Terms for genes affiliated with Hemifacial Atrophy, Progressive

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Sources for Hemifacial Atrophy, Progressive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet