MCID: RST003
MIFTS: 37

Restrictive Dermopathy malady

Fetal diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Restrictive Dermopathy

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Sources:
51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Restrictive Dermopathy:

Name: Restrictive Dermopathy 51
Hyperkeratosis-Contracture Syndrome 51
 
Tight Skin Contracture Syndrome 51
Lethal Restrictive Dermopathy 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
hyperkeratosis-contracture syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal,infantile,stillbirth


External Ids:

Orphanet51 1662
ICD10 via Orphanet28 Q82.8
UMLS via Orphanet66 C0406585

Summaries for Restrictive Dermopathy

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Wikipedia:68 Restrictive dermopathy is a rare, lethal autosomal recessive skin condition characterized by abnormal... more...

MalaCards based summary: Restrictive Dermopathy, also known as hyperkeratosis-contracture syndrome, is related to restrictive dermopathy, lethal and mandibuloacral dysplasia, and has symptoms including large fontanelle/delayed fontanelle closure, micrognathia/retrognathia/micrognathism/retrognathism and ectropion/entropion/eyelid eversion. An important gene associated with Restrictive Dermopathy is ZMPSTE24 (Zinc Metallopeptidase STE24), and among its related pathways are Adipogenesis and Direct p53 effectors. Affiliated tissues include skin, lung and heart, and related mouse phenotypes are limbs/digits/tail and skeleton.

Related Diseases for Restrictive Dermopathy

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Graphical network of the top 20 diseases related to Restrictive Dermopathy:



Diseases related to restrictive dermopathy

Symptoms for Restrictive Dermopathy

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Symptoms:

 51 (show all 40)
  • large fontanelle/delayed fontanelle closure
  • micrognathia/retrognathia/micrognathism/retrognathism
  • ectropion/entropion/eyelid eversion
  • absent/decreased lashes
  • short/small nose
  • microstomia/little mouth
  • mouth held open
  • anomalies of teeth and dentition
  • external ear anomalies
  • low set ears/posteriorly rotated ears
  • thick skin/pachydermia/orange skin
  • tight skin/lack of elasticity
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • rough trabeculation of bone
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal recessive inheritance
  • early death/lethality
  • stillbirth/neonatal death
  • eyebrows anomalies
  • anomalies of eyelids, eyelashes and lacrimal system
  • blepharophimosis/short palpebral fissures
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • anomalies of chest/thorax/trunk
  • clavicle absent/abnormal
  • kyphosis
  • scoliosis
  • complete claw hand/camptodactyly of all fingers
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • lanugo
  • atrial septal defect/interauricular communication
  • patent ductus arteriosus
  • bladder and ureter anomalies
  • hypospadias/epispadias/bent penis
  • adrenal glands anomalies
  • diaphyseal anomaly
  • polyhydramnios
  • dextrocardia/abnormal heart position/cardiac heterotaxia/situs inversus
  • aortic root dilatation/dilation/aneurysm

Drugs & Therapeutics for Restrictive Dermopathy

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Drugs for Restrictive Dermopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ErythromycinapprovedPhase 1, Phase 285114-07-812560
Synonyms:
(3R,4S,5S,6R,7R,9R,11R,12R,13S,14R)-6-{[(2S,3R,4S,6R)-4-(dimethylamino)-3-hydroxy-6-methyltetrahydro-2H-pyran-2-yl]oxy}-14-ethyl-7,12,13-trihydroxy-4-{[(2R,4R,5S,6S)-5-hydroxy-4-methoxy-4,6-dimethyltetrahydro-2H-pyran-2-yl]oxy}-3,5,7,9,11,13-hexamethyloxacyclotetradecane-2,10-dione
,10-dione
114-07-8
3''-O-demethylerythromycin
374700-25-1
45673_FLUKA
45674_FLUKA
79235-06-6
82343-12-2
A/T/S
AC-12744
AC1L1FIQ
AC1L1QK7
AC1L1ZUR
AC1O8PVA
AC1Q2UA1
AC1Q6O1S
AI3-50138
AR-1A4414
AR-1H0723
Abboticin
Abomacetin
Acneryne
Acnesol
Ak-Mycin
Ak-mycin
Akne Cordes Losung
Akne-Mycin
Akne-mycin
Akne-mycin (TN)
Aknederm Ery Gel
Aknemycin
Aknin
AustriaS
BB_NC-1332
BIDD:GT0017
BPBio1_000312
BSPBio_000282
BSPBio_002480
Benzamycin
Benzamycin Pak
Bristamycin
C-Solve-2
C01912
C37H67NO13
CCRIS 9078
CHEBI:42355
CHEMBL532
CID12560
CID3255
CID6713919
CID8233
D00140
DB00199
Del-Mycin
Derimer
Deripil
DivK1c_000294
DivK1c_000397
DivK1c_000702
Dotycin
Dumotrycin
E- mycin, Erycin, Robimysin
E-Base
E-Base (base)
E-Glades
E-Mycin
E-Mycin (base)
E-Solve 2
E.e.s
E.e.s.
E0751
E0774_SIAL
E5389_SIGMA
E6376_SIAL
E7904_SIGMA
EINECS 204-040-1
EM
EMU
ERY
ERYC
ERYC (base)
ERYTHROMYCIN STEARATE
ETS
Emgel
Emu-V
Emu-Ve
Emuvin
Emycin
Endoeritrin
Erecin
Erimycin-T
Erisone
Eritomicina
Eritrocina
Eritromicina
Eritromicina [INN-Spanish]
Ermycin
Eros
Ery
Ery-B
Ery-Diolan
Ery-Sol
Ery-Tab
Ery-Tab (base)
Ery-maxin
Ery-ped
Ery-tab
Eryacne
Eryacnen
Erybid
Eryc
Eryc (TN)
Eryc 125
Eryc Sprinkles
Eryc-125
Eryc-250
Erycen
Erycette
Erycin
Erycinum
Eryderm
Erydermer
Erygel
Erygel (TN)
Eryhexal
Erymax
Erymed
Erypar
Erysafe
Erytab
Erythra-Derm
Erythra-derm
Erythro
Erythro-Statin
Erythro-Teva
Erythrocin
Erythrocin Stearate
Erythroderm
Erythrogran
Erythroguent
Erythromast 36
Erythromid
 
Erythromycin
Erythromycin & VRC3375
Erythromycin (JP15/USP/INN)
Erythromycin A
Erythromycin A, T-Stat, Pantomicina, HSDB 3074, Erytab, DRG-0279
Erythromycin B
Erythromycin Base
Erythromycin Base Base
Erythromycin Base Filmtab
Erythromycin C
Erythromycin Lactate
Erythromycin Ointment
Erythromycin Stearate
Erythromycin [INN:BAN:JAN]
Erythromycin base
Erythromycin estolate
Erythromycin ethylsuccinate
Erythromycin glucoheptonate
Erythromycin intravenous
Erythromycin lactobionate
Erythromycin oxime
Erythromycin sodium lauryl sulfate
Erythromycin, compd. with monododecyl sulfate, sodium salt
Erythromycine
Erythromycine [INN-French]
Erythromycinum
Erythromycinum [INN-Latin]
Erytop
Erytrociclin
Ethril 250
HMS1568O04
HMS1920M04
HMS2091D05
HMS500O16
HSDB 3074
I06-0245
IDI1_000294
IDI1_000397
IDI1_000702
Ilocaps
Ilosone
Ilosone (estolate)
Iloticina
Ilotycin
Ilotycin Gluceptate
Ilotycin T.S
Ilotycin T.S.
Inderm
Inderm Gel
IndermRetcin
KBio1_000294
KBio1_000397
KBio1_000702
KBio2_000555
KBio2_001139
KBio2_003123
KBio2_003707
KBio2_005691
KBio2_006275
KBioGR_001175
KBioSS_000555
KBioSS_001139
KST-1A8261
Kesso-Mycin
LMPK04000006
LS-187077
LS-64648
Latotryd
Lederpax
MLS001066618
Mephamycin
Mercina
MolPort-000-772-161
MolPort-002-507-378
MolPort-003-933-429
N-Methylerythromycin A
NCGC00179619-01
NCI-C55674
NINDS_000294
NINDS_000397
NINDS_000702
NSC 55929
NSC55929
Oftalmolosa Cusi Eritromicina
Oftamolets
PCE Dispertab (base)
Paediathrocin
Pantoderm
Pantodrin
Pantomicina
Pce
Pce (TN)
Pfizer-e
Pharyngocin
Prestwick0_000151
Prestwick1_000151
Prestwick2_000151
Prestwick3_000151
Prestwick_205
Primacine
Propiocine
Proterytrin
R-P Mycin
Retcin
Robimycin
Romycin
SBB057401
SMP1_000119
SMR000544946
SPBio_000778
SPBio_001226
SPBio_002221
SPECTRUM1500280
STK249736
Sans-acne
Sansac
Serp-AFD
Skid Gel E
Spectrum2_000759
Spectrum2_001263
Spectrum4_000538
Spectrum5_001596
Spectrum_000115
Spectrum_000659
Staticin
Staticin (TN)
Stiemicyn
Stiemycin
Sulfuric acid, monododecyl ester, sodium salt, compd. with erythromycin
T-Stat
T-stat (TN)
Taimoxin-F
Theramycin Z
Tiloryth
Tiprocin
Torlamicina
UNII-63937KV33D
Udima Ery Gel
Wemid
Wyamycin S
adecane-2,10-dione (non-preferred name)
bmse000664
erythro
erythromycin
nchembio.285-comp13
2
AcetylcysteineapprovedPhase 1, Phase 2280616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
 
Flumucetin
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Mercapturic acid
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
Sodium 2-acetamido-3-mercaptopropionate
3
PravastatinapprovedPhase 1, Phase 214281093-37-054687
Synonyms:
(+)-(3R,5R)-3,5-Dihydroxy-7-[(1S,2S,6S,8S,8ar)-6-hydroxy-2-methyl-8-{[(S)-2-methylbutyryl]oxy}-1,2,6,7,8,8a-hexahydro-1-naphthyl]heptanoic acid
(3R,5R)-3,5-dihydroxy-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-{[(2S)-2-methylbutanoyl]oxy}-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]heptanoic acid
(3R,5R)-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-[(2S)-2-methylbutanoyl]oxy-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]-3,5-dihydroxyheptanoic acid
1,2,6,7,8,8a-hexahydro-beta,delta,6-trihydroxy-2-methyl-8-(2-methyl-1-oxobutoxy)-, (1S-(1alpha(betaS*,deltaS*),2alpha,6alpha,8beta(R*),8aalpha))-1-Naphthaleneheptanoic acid
3beta-Hydroxycompactin
81093-37-0
81131-70-6 (hydrochloride salt)
AC1L1HJL
AC1Q5T3M
BIDD:GT0773
BRD-K60511616-236-01-4
C01844
C23H36O7
CCRIS 7557
CHEMBL1144
CID54687
Compactin
D08410
DB00175
Elisor
Eptastatin
FT-0082682
KS-5015
LS-94713
Lipostat
Mevalothin
Mevalotin
Mevastatin
Mevinolin
Oliprevin
 
Pravachol
Pravaselect
Pravastatin
Pravastatin (INN)
Pravastatin Sodium
Pravastatin Sodium Salt
Pravastatin [INN:BAN]
Pravastatin acid
Pravastatin sodium
Pravastatin tert-Octylamine Salt
Pravastatina
Pravastatina [Spanish]
Pravastatine
Pravastatine [French]
Pravastatinum
Pravastatinum [Latin]
Pravator
Pravator (TN)
RMS-431
SQ-31,000
Selectin
Selektine
Selipran
UNII-KXO2KT9N0G
Vasten
nchembio.301-comp7
nchembio790-comp15
pravastatin
pravastatina
pravastatine
pravastatinum
4
LosartanapprovedPhase 1, Phase 2265114798-26-43961
Synonyms:
(2-Butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
114798-26-4
124750-99-8 (mono-potassium salt)
1H-Imidazole-5-methanol, 2-butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
2-Butyl-4-chloro-1-((2'-(1H-etrazol-5-yl) (1,1'-biphenyl)-4-yl)methyl)-1H-imidazole-5-methanol
2-Butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl-1H-imidazole-5-methanol
2-N-Butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-butyl-4-chloro-1-[p-(o-1H-tetrazol-5ylphenyl)benzyl]imidazole-5-methanol
2-n-butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-n-butyl-4-chloro-5-hydroxymethyl-1-[[2'-(1H-tetrazol-5-yl)-biphenyl-4-yl]methyl]imidazole
AC1L1H3Q
BIDD:GT0286
BRD-K76205745-001-02-5
BSPBio_002695
C07072
C22H23ClN6O
CHEBI:6541
CHEMBL191
CID3961
CL23623
Cozaar
D08146
DB00678
DUP 89
DuP 89
DuP-753
HMS1922J13
HMS2093E22
Hyzaar
I14-9710
Jsp001094
KBio2_002193
 
KBio2_004761
KBio2_007329
KBio3_001915
KBioGR_001611
KBioSS_002193
L000351
LOSARTAN POTASSIUM
LS-78746
Lacidipine
Lortaan
Losartan
Losartan (INN)
Losartan Potassium
Losartan [INN:BAN]
Losartan monopotassium salt
Losartic
Losartic (TN)
MK-954
MK954
MolPort-003-666-553
NCGC00095125-01
NCGC00095125-02
NCGC00095125-03
Oprea1_644635
SPBio_001893
SPECTRUM1504268
Spectrum2_001677
Spectrum3_000998
Spectrum4_001126
Spectrum5_001466
Spectrum_001713
UNII-JMS50MPO89
[2-butyl-5-chloro-3-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]imidazol-4-yl]methanol
losartan
losartan potassium
5N-monoacetylcystinePhase 1, Phase 2280
6ExpectorantsPhase 1, Phase 2320
7Erythromycin EthylsuccinatePhase 1, Phase 285
8
Angiotensin IIPhase 1, Phase 298568521-88-0, 11128-99-7172198
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
9Angiotensin II Type 1 Receptor BlockersPhase 1, Phase 2928
10Erythromycin EstolatePhase 1, Phase 285
11Erythromycin stearatePhase 1, Phase 285

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak SyndromeTerminatedNCT00467831Phase 1, Phase 2
2Ontario ICU Clinical Best Practices Demonstration ProjectCompletedNCT00332982

Search NIH Clinical Center for Restrictive Dermopathy

Genetic Tests for Restrictive Dermopathy

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Anatomical Context for Restrictive Dermopathy

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MalaCards organs/tissues related to Restrictive Dermopathy:

33
Skin, Lung, Heart, Adrenal gland, Bone, Placenta

Animal Models for Restrictive Dermopathy or affiliated genes

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MGI Mouse Phenotypes related to Restrictive Dermopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1EGFR, LMNA, ZMPSTE24
2MP:00053908.6EGFR, LMNA, TGFA, ZMPSTE24
3MP:00053828.6EGFR, LMNA, TGFA, ZMPSTE24
4MP:00053758.6EGFR, LMNA, TGFA, ZMPSTE24
5MP:00107718.4EGFR, LMNA, TGFA, ZMPSTE24
6MP:00053698.3EGFR, LMNA, TGFA, ZMPSTE24
7MP:00053858.1EGFR, LMNA, TGFA, ZMPSTE24

Publications for Restrictive Dermopathy

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Articles related to Restrictive Dermopathy:

(show all 27)
idTitleAuthorsYear
1
A shared founder mutation underlies lethal restrictive dermopathy in the Austronesian aboriginal Atayal tribe of Taiwan. (25260550)
2015
2
Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy. (26379196)
2015
3
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update. (24169522)
2014
4
Restrictive dermopathy: report of two siblings. (23597553)
2013
5
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C. (23804595)
2013
6
Use of dermal filler to improve exposure keratopathy in a patient with restrictive dermopathy. (23387462)
2013
7
Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity. (21108632)
2012
8
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America. (22495976)
2012
9
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. (22935701)
2012
10
A case of restrictive dermopathy with novel ZMPSTE24 gene mutation. (22746836)
2012
11
Restrictive dermopathy in a Turkish newborn. (21121943)
2011
12
Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature. (20101687)
2010
13
Novel human pathological mutations. Gene symbol: Zmpste24. Disease: Restrictive dermopathy. (21488301)
2010
14
Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity. (20635340)
2010
15
Prelamin A processing and functional effects in restrictive dermopathy. (21127399)
2010
16
Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption. (20034068)
2010
17
Autosomal recessive LMNA mutation causing restrictive dermopathy. (20662858)
2010
18
Complex case study: nursing care of an infant with restrictive dermopathy. (19474589)
2009
19
Prenatal diagnosis of restrictive dermopathy. (19383993)
2009
20
A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene. (19504603)
2009
21
Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature. (19020898)
2009
22
A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East. (18671782)
2008
23
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. (15843403)
2005
24
Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. (16297189)
2005
25
Lethal arthrogryposis with icthyosis: overlap with Neu-Laxova syndrome, restrictive dermopathy and harlequin fetus. (15057131)
2004
26
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. (15317753)
2004
27
Immunohistochemical localization of transforming growth factor-alpha and epithelial growth factor receptor in human fetal developing skin, psoriasis and restrictive dermopathy. (11173656)
2000

Variations for Restrictive Dermopathy

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Clinvar genetic disease variations for Restrictive Dermopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ZMPSTE24NM_005857.4(ZMPSTE24): c.1263dupT (p.Ala422Cysfs)duplicationPathogenicrs281875375GRCh37Chr 1, 40758176: 40758176
2LMNANM_170707.3(LMNA): c.1824C> T (p.Gly608=)single nucleotide variantPathogenicrs58596362GRCh37Chr 1, 156108404: 156108404
3ZMPSTE24NM_005857.4(ZMPSTE24): c.54dupT (p.Ile19Tyrfs)duplicationPathogenicrs281875361GRCh37Chr 1, 40723997: 40723997
4ZMPSTE24NM_005857.4(ZMPSTE24): c.591dupT (p.Ile198Tyrfs)duplicationPathogenicrs281875367GRCh37Chr 1, 40735763: 40735763
5ZMPSTE24NM_005857.4(ZMPSTE24): c.50delA (p.Lys17Serfs)deletionPathogenicrs281875360GRCh37Chr 1, 40723993: 40723993
6ZMPSTE24NM_005857.4(ZMPSTE24): c.584_585delAT (p.Tyr195Phefs)deletionPathogenicrs786205123GRCh37Chr 1, 40735756: 40735757
7ZMPSTE24NM_005857.4(ZMPSTE24): c.1085dupT (p.Leu362Phefs)duplicationPathogenicrs137854889GRCh37Chr 1, 40756551: 40756551
8ZMPSTE24NM_005857.4(ZMPSTE24): c.715G> T (p.Glu239Ter)single nucleotide variantPathogenicrs267607181GRCh37Chr 1, 40737653: 40737653
9LMNANM_170707.3(LMNA): c.1968+1G> Asingle nucleotide variantPathogenicrs113436208GRCh37Chr 1, 156108549: 156108549

Expression for genes affiliated with Restrictive Dermopathy

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Search GEO for disease gene expression data for Restrictive Dermopathy.

Pathways for genes affiliated with Restrictive Dermopathy

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Pathways related to Restrictive Dermopathy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5LMNA, ZMPSTE24
29.3EGFR, TGFA
3
Show member pathways
9.3EGFR, TGFA
49.3EGFR, TGFA
5
Show member pathways
9.1BANF1, LMNA

GO Terms for genes affiliated with Restrictive Dermopathy

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Cellular components related to Restrictive Dermopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1perinuclear region of cytoplasmGO:00484719.1EGFR, LMNA, TGFA
2endoplasmic reticulum membraneGO:00057898.9EGFR, TGFA, ZMPSTE24

Biological processes related to Restrictive Dermopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear envelope organizationGO:00069989.8LMNA, ZMPSTE24
2mitotic nuclear envelope reassemblyGO:00070849.1BANF1, LMNA
3mitotic nuclear envelope disassemblyGO:00070779.1BANF1, LMNA
4positive regulation of epithelial cell proliferationGO:00506799.0EGFR, TGFA

Sources for Restrictive Dermopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet