MCID: URB001
MIFTS: 48

Urbach-Wiethe Disease malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Metabolic diseases

Aliases & Classifications for Urbach-Wiethe Disease

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Aliases & Descriptions for Urbach-Wiethe Disease:

Name: Urbach-Wiethe Disease 50 11 22 23 24 52 12
Lipoid Proteinosis 11 22 24 47 13 52 68
Lipoid Proteinosis of Urbach and Wiethe 50 46 24 68 37 66
Hyalinosis Cutis Et Mucosae 22 46 24 52 68
Lipid Proteinosis 11 24 25
Lipoproteinosis 46 24
Urbach-Wiethe Lipoid Proteinosis 24
 
Lipoidosis Cutis Et Mucosae 24
Urbach-Wiethe Syndrome 24
Urbach Wiethe Disease 46
Lipoglycoproteinosis 24
Proteinosis Lipoid 48
Lipoidproteinosis 24
Lip 68

Characteristics:

Orphanet epidemiological data:

52
urbach-wiethe disease:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy

HPO:

62
urbach-wiethe disease:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 247100
Disease Ontology11 DOID:14498
MeSH37 D008065
NCIt43 C84829
SNOMED-CT60 238950006, 38692000
Orphanet52 ORPHA530
ICD10 via Orphanet29 E78.8
MedGen35 C0023795

Summaries for Urbach-Wiethe Disease

About this section
NINDS:47 Lipoid proteinosis (LP) is a rare disease that affects the skin and the brain. Three distinctive features characterize the disease: a hoarse voice, unusual growths on the skin and mucus membranes, and damage to the temporal lobes or hippocampus of the brain. The symptoms of LP may begin as early as infancy with hoarseness or a weak cry, due to growths on the vocal cords. Skin lesions appear sometime in the next 3 years, leaving acne- or pox-like scars on the face, hands, and mucous membranes. The most characteristic symptom of LP is waxy, yellow, bead-like bumps along the upper and lower edges of the eyelids. Brain damage develops over time and is associated with the development of cognitive abilities and epileptic seizures. Damage to the amygdala, a part of the brain that regulates emotions and perceptions, leads to difficulties in discriminating facial expressions and in making realistic judgments about the trustworthiness of other people. LP is a hereditary disease that equally affects males and females. Nearly a quarter of all reported cases have been in the Afrikaner population of South Africa, but the disease is increasingly being reported from other parts of the world including India. The gene responsible for LP has recently been identified. It performs an unknown function in the skin related to the production of collagen.

MalaCards based summary: Urbach-Wiethe Disease, also known as lipoid proteinosis, is related to lip cancer and cleft lip, and has symptoms including thick lower lip vermilion, abnormality of the eye and atypical scarring of skin. An important gene associated with Urbach-Wiethe Disease is ECM1 (Extracellular Matrix Protein 1), and among its related pathways are Proteoglycans in cancer and Phospholipase-C Pathway. Affiliated tissues include skin, temporal lobe and brain.

NIH Rare Diseases:46 Lipoid proteinosis (lp) of urbach and wiethe is a rare condition that affects the skin and the brain. the signs and symptoms of this condition and the disease severity vary from person to person. the first sign of lp is usually a hoarse cry during infancy. affected children then develop characteristic growths on the skin and mucus membranes in the first two years of life. damage to the temporal lobes (the portions of the brain that process emotions and are important for short-term memory) occurs over time and can lead to seizures and intellectual disability. other signs and symptoms may include hair loss, oligodontia, speech problems, frequent upper respiratory infections, difficulty swallowing, dystonia, and learning disabilities. lp is caused by changes (mutations) in the ecm1 gene and is inherited in an autosomal recessive manner. there is currently no cure for lp and treatment is based on the signs and symptoms present in each person. last updated: 7/20/2016

UniProtKB/Swiss-Prot:68 Lipoid proteinosis: Rare autosomal recessive disorder characterized by generalized thickening of skin, mucosae and certain viscera. Classical features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. Histologically, there is widespread deposition of hyaline material and disruption/reduplication of basement membrane.

Genetics Home Reference:24 Lipoid proteinosis is a condition that results from the formation of numerous small clumps (deposits) of proteins and other molecules in various tissues throughout the body. These tiny clumps appear in the skin, upper respiratory tract, the moist tissues that line body openings such as the eyelids and the inside of the mouth (mucous membranes), and other areas.

OMIM:50 Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of... (247100) more...

GeneReviews summary for NBK338540

Related Diseases for Urbach-Wiethe Disease

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Diseases related to Urbach-Wiethe Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 217)
idRelated DiseaseScoreTop Affiliating Genes
1lip cancer12.3
2cleft lip12.2
3cleft lip/palate-ectodermal dysplasia syndrome12.1
4cleft lip +/- cleft palate12.0
5lip disease12.0
6lower lip cancer12.0
7blepharochalasis and double lip12.0
8upper lip cancer11.9
9ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 311.9
10coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation11.9
11van der woude syndrome11.9
12lower lip fistula11.9
13commissural lip fistula11.9
14cleft, median, of upper lip with polyps of facial skin and nasal mucosa11.9
15lip carcinoma in situ11.9
16arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay11.8
17median cleft lip/mandibule11.8
18lip and oral cavity cancer11.8
19maxillary double lip11.8
20woolly hair, hypotrichosis, everted lower lip, and outstanding ears11.8
21cleft lip/palate with abnormal thumbs and microcephaly11.8
22coloboma, cleft lip/palate and mental retardation syndrome11.8
23polydactyly cleft lip palate psychomotor retardation11.8
24lip, median nodule of upper11.8
25cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease11.7
26kniest-like dysplasia with pursed lips and ectopia lentis11.7
27microcephaly, corpus callosum dysgenesis and cleft lip-palate11.7
28ectrodactyly and ectodermal dysplasia without cleft lip/palate11.7
29cleft lip, congenital healed11.7
30capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth11.7
31amelia cleft lip palate hydrocephalus iris coloboma11.7
32anophthalmia cleft lip palate hypothalamic disorder11.7
33cleft lip and palate malrotation cardiopathy11.7
34cleft lip and/or palate with mucous cysts of lower11.7
35cleft lip palate dysmorphism kumar type11.7
36cleft lip palate mental retardation corneal opacity11.7
37cleft lip palate oligodontia syndactyly pili torti11.7
38cleft lip palate pituitary deficiency11.7
39cleft lip palate-tetraphocomelia11.7
40cleft lower lip cleft lateral canthi chorioretinal11.7
41cleft upper lip median cutaneous polyps11.7
42craniosynostosis cleft lip palate arthrogryposis11.7
43holoprosencephaly ectrodactyly cleft lip palate11.7
44hypopituitarism micropenis cleft lip palate11.7
45lagophthalmia cleft lip palate11.7
46microbrachycephaly ptosis cleft lip11.7
47midline cleft of lower lip11.7
48multiple congenital anomalies mental retardation, growth failure and cleft lip palate11.7
49syndactyly ectodermal dysplasia cleft lip palate hand foot11.7
50tibial hemimelia cleft lip palate11.7

Graphical network of the top 20 diseases related to Urbach-Wiethe Disease:



Diseases related to urbach-wiethe disease

Symptoms for Urbach-Wiethe Disease

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Symptoms by clinical synopsis from OMIM:

247100

Clinical features from OMIM:

247100

Symptoms:

 52 (show all 23)
  • abnormality of the gingiva
  • microglossia
  • thick lower lip vermilion
  • tongue nodules
  • high palate
  • hyperkeratosis
  • acne
  • thickened skin
  • seizures
  • dystonia
  • subcutaneous nodule
  • hoarse voice
  • dysphagia
  • recurrent respiratory infections
  • cerebral calcification
  • abnormal blistering of the skin
  • abnormality of oral mucosa
  • nasal polyposis
  • scarring
  • papule
  • pustule
  • verrucae
  • scalp hair loss

HPO human phenotypes related to Urbach-Wiethe Disease:

(show all 25)
id Description Frequency HPO Source Accession
1 thick lower lip vermilion hallmark (90%) HP:0000179
2 abnormality of the eye hallmark (90%) HP:0000478
3 atypical scarring of skin hallmark (90%) HP:0000987
4 acne hallmark (90%) HP:0001061
5 abnormality of the voice hallmark (90%) HP:0001608
6 abnormal blistering of the skin hallmark (90%) HP:0008066
7 pustule hallmark (90%) HP:0200039
8 hyperkeratosis typical (50%) HP:0000962
9 recurrent respiratory infections typical (50%) HP:0002205
10 feeding difficulties in infancy typical (50%) HP:0008872
11 aplasia/hypoplasia of the tongue typical (50%) HP:0010295
12 abnormal hair quantity typical (50%) HP:0011362
13 verrucae typical (50%) HP:0200043
14 seizures occasional (7.5%) HP:0001250
15 cerebral calcification occasional (7.5%) HP:0002514
16 nasal polyposis occasional (7.5%) HP:0100582
17 aggressive behavior HP:0000718
18 hallucinations HP:0000738
19 abnormality of the skin HP:0000951
20 seizures HP:0001250
21 hoarse voice HP:0001609
22 patchy alopecia HP:0002232
23 memory impairment HP:0002354
24 bilateral intracranial calcifications HP:0005671
25 paranoia HP:0011999

UMLS symptoms related to Urbach-Wiethe Disease:


exanthema, hoarseness, pruritus, seizures, skin manifestations, thickened tongue

Drugs & Therapeutics for Urbach-Wiethe Disease

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Drugs for Urbach-Wiethe Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Fentanyl739437-38-73345
Synonyms:
1-Phenethyl-4-(N-phenylpropionamido)piperidine
1-Phenethyl-4-N-propionylanilinopiperidine
437-38-7
5-22-08-00049 (Beilstein Handbook Reference)
80832-90-2
990-73-8 (citrate)
AC1L1FQ2
Actiq
BIDD:GT0555
BRN 0494484
CHEBI:119915
CHEMBL596
CID3345
D00320
DB00813
Duragesic
Duragesic (TN)
Duragesic-100
Duragesic-12
Duragesic-25
Duragesic-50
Duragesic-75
Durogesic
EINECS 207-113-6
Fentanest
Fentanil
Fentanil [DCIT]
Fentanila
Fentanila [INN-Spanish]
Fentanilo
Fentanyl
Fentanyl (JAN/USAN/INN)
Fentanyl [INN:BAN]
Fentanyl citrate
Fentanyl-100
 
Fentanyl-12
Fentanyl-25
Fentanyl-50
Fentanyl-75
Fentanylum
Fentanylum [INN-Latin]
HSDB 3329
IONSYS
JNS020QD
L001275
LS-124439
Matrifen
MolPort-003-847-369
N-(1-Phenethyl-4-piperidinyl)-N-phenylpropionamide
N-(1-Phenethyl-4-piperidyl)propionanilide
N-(1-Phenethyl-piperidin-4-yl)-N-phenyl-propionamide
N-(1-Phenethylpiperidin-4-yl)-N-phenylpropionamide
N-(1-phenethylpiperidin-4-yl)-N-phenylpropanamide
N-Phenethyl-4-(N-propionylanilino)piperidine
N-Phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)propanamide
N-phenyl-N-[1-(2-phenylethyl)piperidin-4-yl]propanamide
NCGC00168252-01
Nasalfent
Oprea1_152073
Oprea1_207148
PDSP1_000860
PDSP2_000846
Pentanyl
Phentanyl
Propanamide, N-phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)- (9CI)
R 4263
Rapinyl
Sentonil
Sublimase
Sublimaze
UNII-UF599785JZ
fentanyl
2
angiotensin II113568521-88-0, 11128-99-7172198, 65143
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
3
adalimumab466331731-18-116219006
Synonyms:
331731-18-1
Adalimumab
Adalimumab (USAN/INN)
Adalimumab (genetical recombination)
 
Adalimumab (genetical recombination) (JAN)
D02597
Humira
Humira (TN)
Humira Pen
Ig gamma-1 chain C region
4
Telmisartan260144701-48-465999
Synonyms:
144701-48-4
2-[4-[[4-methyl-6-(1-methylbenzimidazol-2-yl)-2-propylbenzimidazol-1-yl]methyl]phenyl]benzoic acid
4'-((1,4'-Dimethyl-2'-propyl(2,6'-bi-1H-benzimidazol)-1'-yl)methyl)-(1,1'-biphenyl)-2-carboxylic acid
4'-((1,4'-dimethyl-2'-propyl(2,6'-bi-1H-benzimidazol)-1'-yl)methyl)-(1,1'-biphenyl)-2-carboxylic acid
4'-((4-Methyl-6-(1-methyl-2-benzimidazolyl)-2-propyl-1-benzimidazolyl)methyl)-2-biphenylcarboxylic acid
4'-((4-mehtyl-6-(1-methyl-2-benzimidazolyl)-2-propyl-1-benzimmidazolyl)methyl)-2-biphenylcarboxylic acid
4'-[(1,4'-Dimethyl-2'propyl[2,6'-bi-1H-benzimidazol]-1'-yl)methyl]-[1,1'-biphenyl]-2-carboxylic acid
4'-[(1,4'-dimethyl-2'propyl[2,6'-bi-1H-benzimidazol]-1'-yl)methyl]-[1,1'-biphenyl]-2-carboxylic acid
4'-[(1,7'-Dimethyl-2'-propyl-1H,3'h-2,5'-bibenzimidazol-3'-yl)methyl]biphenyl-2-carboxylic acid
4'-[(1,7'-dimethyl-2'-propyl-1H,3'H-2,5'-bibenzimidazol-3'-yl)methyl][1,1'-biphenyl]-2-carboxylic acid
4'-[(1,7'-dimethyl-2'-propyl-1H,3'H-2,5'-bibenzimidazol-3'-yl)methyl]biphenyl-2-carboxylic acid
AC-2013
AC1L24EB
AC1Q5U7O
Abbott brand of telmisartan
BAY-68-9291
BAY68-9291
BIBR 277
BIBR 277SE
BIBR-277
BIBR-277-SE
BIBR-277SE
BIDD:GT0365
BRD-K73999723-001-02-2
BSPBio_002738
Bay 68-9291
Bio-0103
Boehringer Ingelheim brand of telmisartan
C07710
C084178
C33H30N4O2
CHEBI:9434
CHEMBL1017
CID65999
CPD000466326
D00627
DB00966
Glaxo Wellcome brand of telmisartan
GlaxoSmithKline brand of telmisartan
 
HMS1922P07
HMS2051P16
HMS2090P17
HMS2093M22
HSDB 7590
I06-0281
KBio3_001958
KBioGR_001842
Kinzal
Kinzalmono
L001035
LS-44263
MLS000759432
MLS001076687
Micardis
Micardis (TN)
Micardis HCT
Micardis, Targit, Temax, BIBR277, Telmisartan
MolPort-003-666-621
NCGC00095150-01
NCGC00095150-02
NCGC00095150-03
Pritor
S1738_Selleck
SAM001246602
SMR000466326
SPBio_002131
SPECTRUM1505261
STK624049
Spectrum2_001976
Spectrum3_001089
Spectrum4_001261
Spectrum5_001053
TL8000991
Telmisartan
Telmisartan (JAN/USAN/INN)
Telmisartan [USAN:INN]
UNII-U5SYW473RQ
YM-086
telmisartan
5
Menthol21842216-51-516666
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

Interventional clinical trials:

idNameStatusNCT IDPhase
1Observational Non-interventional Study (Anwendungsbeobachtung) With Telmisartan in High-risk HypertensivesCompletedNCT00539487
2Effectiveness and Safety in Patients With Crohn´s Disease in Clinical RoutineCompletedNCT01083680
3Quality of Life in Daxas-treated Patients Older Than 18 Years With Severe Chronic Obstructive Pulmonary Disease (COPD) (DACOTA)CompletedNCT01285167
4Quality of Life in Daxas-treated Patients Older Than 18 Years With Severe COPDCompletedNCT01285180
5Matrifen® for Therapy of Severe Chronic Pain®CompletedNCT00699335
6Efficacy of Matrifen in Patients Older Than 18 Years With Severe, Chronic PainCompletedNCT00556270
7POEM for Spastic Esophageal DisordersRecruitingNCT02425033
8A Randomized Comparison of Laparoscopic Myotomy and Pneumatic Dilatation for AchalasiaActive, not recruitingNCT00188344

Search NIH Clinical Center for Urbach-Wiethe Disease


Cochrane evidence based reviews: lipoid proteinosis of urbach and wiethe

Genetic Tests for Urbach-Wiethe Disease

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Genetic tests related to Urbach-Wiethe Disease:

id Genetic test Affiliating Genes
1 Lipid Proteinosis25
2 Urbach-Wiethe Disease23 ECM1

Anatomical Context for Urbach-Wiethe Disease

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MalaCards organs/tissues related to Urbach-Wiethe Disease:

34
Skin, Temporal lobe, Brain, Amygdala, Tongue, Eye

Animal Models for Urbach-Wiethe Disease or affiliated genes

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Publications for Urbach-Wiethe Disease

About this section

Articles related to Urbach-Wiethe Disease:

(show all 37)
idTitleAuthorsYear
1
Translational neuroscience of basolateral amygdala lesions: Studies of urbach-wiethe disease. (27091312)
2016
2
Urbach-Wiethe disease in a young woman: A case report. (26829688)
2016
3
The dynamic consequences of amygdala damage on threat processing in Urbach-Wiethe Disease. AA commentary on Pishnamazi etA al. (2016). (27531670)
2016
4
Vocal fold hyalinosis in Urbach-Wiethe disease, a rare cause of hoarseness. (26563017)
2015
5
Lipoid proteinosis or Urbach-Wiethe disease: Description of a new case with cerebral involvement. (26059804)
2015
6
Urbach-Wiethe disease presenting with partial seizures, skin lesions and typical neuroimaging features. (25261624)
2014
7
Lipoid proteinosis (Urbach-Wiethe disease) in two siblings. (25593816)
2014
8
Temporal lobe epilepsy and emotion recognition without amygdala: a case study of Urbach-Wiethe disease and review of the literature. (25465029)
2014
9
Spontaneous intracerebral hemorrhage in Urbach-Wiethe disease. (23628933)
2013
10
Teaching NeuroImages: lipoid proteinosis (Urbach-Wiethe disease): typical findings in this rare genodermatosis. (23439709)
2013
11
Spontaneous intracerebral hemorrhage in Urbach-Wiethe disease. (23035073)
2012
12
Urbach-Wiethe disease (lipoid proteinosis). (23032836)
2012
13
Should we think of Urbach-Wiethe disease in refractory epilepsy? Case report and review of the literature. (22795383)
2012
14
Marathon of eponyms: 21 Urbach-Wiethe disease (Lipoid proteinosis). (21902768)
2011
15
Eyelid lesions in lipoid proteinosis or Urbach-Wiethe disease: case report and review of the literature. (21957955)
2011
16
A case of oral recurrent ulcerative lesions in a patient with lipoid proteinosis (Urbach-Wiethe disease). (19913335)
2010
17
Urbach-Wiethe disease: experience at a tertiary care hospital in Abbottabad, Pakistan. (19999213)
2008
18
Lipoid proteinosis (Urbach-Wiethe disease): a case report from India. (18800328)
2008
19
Urbach-Wiethe disease (lipoid proteinosis) with neurological involvement]. (17384547)
2007
20
Role of the amygdala in decisions under ambiguity and decisions under risk: evidence from patients with Urbach-Wiethe disease. (17070876)
2007
21
Epilepsy and migraine in a patient with Urbach-Wiethe disease. (17403608)
2007
22
Amygdala control of emotion-induced forgetting and remembering: evidence from Urbach-Wiethe disease. (17027866)
2007
23
A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily. (16225617)
2005
24
Amygdala, affect and cognition: evidence from 10 patients with Urbach-Wiethe disease. (12937075)
2003
25
Case 1: lipoid proteinosis (hyalinosis cutis et mucosae; Urbach-Wiethe disease). (12372107)
2002
26
Lipoid proteinosis (urbach wiethe disease)-A case report. (23119663)
2000
27
A 17-year-old adolescent with acneiform skin changes. Diagnosis: lipoid proteinosis (Urbach-Wiethe disease, Hyalinosis Cutis et Mucosae). (10486095)
1999
28
Lipoid proteinosis (Urbach-Wiethe disease). (10567873)
1999
29
Urbach-Wiethe disease (Lipoid proteinosis). (9732251)
1998
30
Dry eye syndrome associated with Urbach-Wiethe disease. (8880622)
1996
31
Lipoid proteinosis: Urbach-Wiethe disease. (8241657)
1993
32
Lipoid proteinosis: Urbach-Wiethe disease. (2605082)
1989
33
Lipoid proteinosis: Urbach-Wiethe disease. (1252365)
1976
34
Oral manifestations in Urbach--Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae). (1054442)
1975
35
Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis, hyalinosis cutis et mucosae). A clinico-genetic study of 14 families from northern Sweden. (4448684)
1974
36
Laryngeal lesions in Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae). A histopathological and clinical study, including direct laryngoscopical examinations. (4136849)
1974
37
Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae). A review. (4590183)
1973

Variations for Urbach-Wiethe Disease

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UniProtKB/Swiss-Prot genetic disease variations for Urbach-Wiethe Disease:

68
id Symbol AA change Variation ID SNP ID
1ECM1p.Phe167IleVAR_018691rs121909116

Clinvar genetic disease variations for Urbach-Wiethe Disease:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1ECM1NM_004425.3(ECM1): c.826C> T (p.Gln276Ter)single nucleotide variantPathogenicrs869025563GRCh38Chr 1, 150511574: 150511574
2ECM1NM_004425.3(ECM1): c.506dupC (p.Gly170Trpfs)duplicationPathogenicrs869025564GRCh38Chr 1, 150510996: 150510996
3ECM1NM_004425.3(ECM1): c.727C> T (p.Arg243Ter)single nucleotide variantPathogenicrs746217361GRCh38Chr 1, 150511475: 150511475
4ECM1NM_004425.3(ECM1): c.507delT (p.Arg171Glyfs)deletionPathogenicrs869025565GRCh38Chr 1, 150510997: 150510997
5ECM1NM_004425.3(ECM1): c.658T> G (p.Cys220Gly)single nucleotide variantPathogenicrs869025566GRCh38Chr 1, 150511148: 150511148
6ECM1NM_004425.3(ECM1): c.93_94delGCinsTT (p.Arg31_Gln32delinsSerTer)indelPathogenicrs869025567GRCh37Chr 1, 150482029: 150482030
7ECM1ECM1, 1-BP DEL, 1019AdeletionPathogenic
8ECM1NM_004425.3(ECM1): c.1036C> T (p.Gln346Ter)single nucleotide variantPathogenicrs121909114GRCh37Chr 1, 150484260: 150484260
9ECM1ECM1, 1163-BP DELdeletionPathogenic
10ECM1ECM1, 1-BP DEL, 507TdeletionPathogenic
11ECM1NM_004425.3(ECM1): c.157C> T (p.Arg53Ter)single nucleotide variantPathogenicrs121909115GRCh37Chr 1, 150482172: 150482172
12ECM1NM_004425.3(ECM1): c.499T> A (p.Phe167Ile)single nucleotide variantPathogenicrs121909116GRCh37Chr 1, 150483465: 150483465
13ECM1ECM1, TRP160TERundetermined variantPathogenic

Expression for genes affiliated with Urbach-Wiethe Disease

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Search GEO for disease gene expression data for Urbach-Wiethe Disease.

Pathways for genes affiliated with Urbach-Wiethe Disease

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Pathways related to Urbach-Wiethe Disease according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3HRAS, HSPG2
2
Show member pathways
8.9ECM1, HRAS, HSPG2

GO Terms for genes affiliated with Urbach-Wiethe Disease

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Biological processes related to Urbach-Wiethe Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1angiogenesisGO:00015259.5ECM1, HSPG2

Molecular functions related to Urbach-Wiethe Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:00080228.9ECM1, HRAS, HSPG2

Sources for Urbach-Wiethe Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet