LIP
MCID: URB001
MIFTS: 49

Urbach-Wiethe Disease (LIP) malady

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

Aliases & Classifications for Urbach-Wiethe Disease

Aliases & Descriptions for Urbach-Wiethe Disease:

Name: Urbach-Wiethe Disease 54 12 23 24 25 56 13
Lipoid Proteinosis 12 23 25 51 56 66 14
Lipoid Proteinosis of Urbach and Wiethe 54 50 25 66 42 69
Hyalinosis Cutis Et Mucosae 23 50 25 56 66
Lipid Proteinosis 12 25 29
Lipoproteinosis 50 25
Urbach-Wiethe Lipoid Proteinosis 25
Lipoidosis Cutis Et Mucosae 25
Urbach-Wiethe Syndrome 25
Urbach Wiethe Disease 50
Lipoglycoproteinosis 25
Proteinosis Lipoid 52
Lipoidproteinosis 25
Lip 66

Characteristics:

Orphanet epidemiological data:

56
lipoid proteinosis
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

HPO:

32
urbach-wiethe disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 247100
Disease Ontology 12 DOID:14498
MeSH 42 D008065
NCIt 47 C84829
SNOMED-CT 64 238950006 38692000
Orphanet 56 ORPHA530
ICD10 via Orphanet 34 E78.8
MedGen 40 C0023795
UMLS 69 C0023795

Summaries for Urbach-Wiethe Disease

NINDS : 51 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 cleft lip/palate and lip cancer, and has symptoms including seizures, dystonia and high palate. An important gene associated with Urbach-Wiethe Disease is ECM1 (Extracellular Matrix Protein 1), and among its related pathways/superpathways are Phospholipase-C Pathway and MET promotes cell motility. The drugs Menthol and Telmisartan have been mentioned in the context of this disorder. Affiliated tissues include skin, temporal lobe and brain, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Genetics Home Reference : 25 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.

NIH Rare Diseases : 50 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

OMIM : 54 Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of... (247100) more...

UniProtKB/Swiss-Prot : 66 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.

GeneReviews: NBK338540

Related Diseases for Urbach-Wiethe Disease

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

(show top 50) (show all 352)
id Related Disease Score Top Affiliating Genes
1 cleft lip/palate 12.3
2 lip cancer 12.2
3 cleft lip/palate-ectodermal dysplasia syndrome 12.2
4 cleft lip 12.1
5 cleft lip +/- cleft palate 12.1
6 van der woude syndrome 12.0
7 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.0
8 blepharochalasis and double lip 11.9
9 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 11.9
10 lower lip cancer 11.9
11 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.9
12 isolated cleft lip 11.9
13 cleft lip and alveolus 11.9
14 lip disease 11.8
15 upper lip cancer 11.8
16 lower lip fistula 11.8
17 commissural lip fistula 11.8
18 lip carcinoma in situ 11.7
19 orofacial cleft 11 11.7
20 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 11.7
21 median cleft lip/mandibule 11.7
22 lip and oral cavity cancer 11.7
23 maxillary double lip 11.7
24 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 11.7
25 cleft lip/palate with abnormal thumbs and microcephaly 11.7
26 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 11.7
27 polydactyly cleft lip palate psychomotor retardation 11.7
28 coloboma, cleft lip/palate and mental retardation syndrome 11.7
29 hay-wells syndrome 11.7
30 lip, median nodule of upper 11.6
31 eec syndrome 11.6
32 microcephaly, corpus callosum dysgenesis and cleft lip-palate 11.6
33 kniest-like dysplasia with pursed lips and ectopia lentis 11.6
34 cleft lip, congenital healed 11.6
35 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease 11.6
36 anophthalmia cleft lip palate hypothalamic disorder 11.6
37 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 11.6
38 syndactyly ectodermal dysplasia cleft lip palate hand foot 11.6
39 microbrachycephaly ptosis cleft lip 11.6
40 median cleft of the upper lip and maxilla 11.6
41 holoprosencephaly ectrodactyly cleft lip palate 11.6
42 tibial hemimelia cleft lip palate 11.6
43 cleft lip and palate malrotation cardiopathy 11.6
44 midline cleft of lower lip 11.6
45 cleft lip and/or palate with mucous cysts of lower 11.6
46 cleft lip palate dysmorphism kumar type 11.6
47 multiple congenital anomalies mental retardation, growth failure and cleft lip palate 11.6
48 cleft lip palate mental retardation corneal opacity 11.6
49 cleft lip/palate-deafness-sacral lipoma syndrome 11.6
50 cleft lip palate oligodontia syndactyly pili torti 11.6

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



Diseases related to Urbach-Wiethe Disease

Symptoms & Phenotypes for Urbach-Wiethe Disease

Symptoms by clinical synopsis from OMIM:

247100

Clinical features from OMIM:

247100

Human phenotypes related to Urbach-Wiethe Disease:

56 32 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 dystonia 56 32 Frequent (79-30%) HP:0001332
3 high palate 56 32 Frequent (79-30%) HP:0000218
4 dysphagia 56 32 Frequent (79-30%) HP:0002015
5 cerebral calcification 56 32 Occasional (29-5%) HP:0002514
6 recurrent respiratory infections 56 32 Frequent (79-30%) HP:0002205
7 subcutaneous nodule 56 32 Very frequent (99-80%) HP:0001482
8 hyperkeratosis 56 32 Frequent (79-30%) HP:0000962
9 abnormal blistering of the skin 56 32 Very frequent (99-80%) HP:0008066
10 thick lower lip vermilion 56 32 Very frequent (99-80%) HP:0000179
11 acne 56 32 Very frequent (99-80%) HP:0001061
12 hoarse voice 56 32 Very frequent (99-80%) HP:0001609
13 papule 56 32 Very frequent (99-80%) HP:0200034
14 nasal polyposis 56 32 Occasional (29-5%) HP:0100582
15 verrucae 56 32 Frequent (79-30%) HP:0200043
16 abnormality of the gingiva 56 32 Very frequent (99-80%) HP:0000168
17 pustule 56 32 Very frequent (99-80%) HP:0200039
18 scarring 56 32 Very frequent (99-80%) HP:0100699
19 microglossia 56 32 Frequent (79-30%) HP:0000171
20 tongue nodules 56 32 Very frequent (99-80%) HP:0000199
21 hallucinations 32 HP:0000738
22 memory impairment 32 HP:0002354
23 paranoia 32 HP:0011999
24 thickened skin 56 Very frequent (99-80%)
25 aggressive behavior 32 HP:0000718
26 abnormality of oral mucosa 56 Very frequent (99-80%)
27 abnormality of the skin 32 HP:0000951
28 alopecia of scalp 32 HP:0002293
29 scalp hair loss 56 Frequent (79-30%)
30 patchy alopecia 32 HP:0002232
31 bilateral intracranial calcifications 32 HP:0005671

UMLS symptoms related to Urbach-Wiethe Disease:


hoarseness, seizures, thickened tongue

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.4 EMC1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.4 EMC1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.4 EMC1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.4 ANTXR2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.4 ANTXR2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.4 ANTXR2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.4 ANTXR2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.4 ANTXR2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.4 ANTXR2 EMC1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.4 EMC1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.4 ANTXR2

Drugs & Therapeutics for Urbach-Wiethe Disease

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

(show all 19)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666
2
Telmisartan Approved, Investigational 144701-48-4 65999
3
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
4 Analgesics
5 Anesthetics
6 Anesthetics, Local
7 Hypnotics and Sedatives
8
Angiotensin II 68521-88-0, 11128-99-7 65143 172198
9 Adjuvants, Anesthesia
10 Narcotics
11 Analgesics, Opioid
12 Anesthetics, General
13 Anesthetics, Intravenous
14 Peripheral Nervous System Agents
15 Angiotensin II Type 1 Receptor Blockers
16 Angiotensin Receptor Antagonists
17 Angiotensinogen
18 Antihypertensive Agents
19 Central Nervous System Depressants

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Randomized Comparison of Laparoscopic Myotomy and Pneumatic Dilatation for Achalasia Unknown status NCT00188344
2 Observational Non-interventional Study (Anwendungsbeobachtung) With Telmisartan in High-risk Hypertensives Completed NCT00539487
3 Quality of Life in Daxas-treated Patients Older Than 18 Years With Severe Chronic Obstructive Pulmonary Disease (COPD) (DACOTA) Completed NCT01285167
4 Quality of Life in Daxas-treated Patients Older Than 18 Years With Severe COPD Completed NCT01285180
5 Matrifen® for Therapy of Severe Chronic Pain® Completed NCT00699335
6 Efficacy of Matrifen in Patients Older Than 18 Years With Severe, Chronic Pain Completed NCT00556270
7 POEM for Spastic Esophageal Disorders Recruiting NCT02425033

Search NIH Clinical Center for Urbach-Wiethe Disease

Cochrane evidence based reviews: lipoid proteinosis of urbach and wiethe

Genetic Tests for Urbach-Wiethe Disease

Genetic tests related to Urbach-Wiethe Disease:

id Genetic test Affiliating Genes
1 Lipid Proteinosis 29
2 Urbach-Wiethe Disease 24 ECM1

Anatomical Context for Urbach-Wiethe Disease

MalaCards organs/tissues related to Urbach-Wiethe Disease:

39
Skin, Temporal Lobe, Brain, Amygdala, Tongue, Eye

Publications for Urbach-Wiethe Disease

Articles related to Urbach-Wiethe Disease:

(show all 37)
id Title Authors Year
1
The dynamic consequences of amygdala damage on threat processing in Urbach-Wiethe Disease. AA commentary on Pishnamazi etA al. (2016). ( 27531670 )
2016
2
Translational neuroscience of basolateral amygdala lesions: Studies of urbach-wiethe disease. ( 27091312 )
2016
3
Urbach-Wiethe disease in a young woman: A case report. ( 26829688 )
2016
4
Lipoid proteinosis or Urbach-Wiethe disease: Description of a new case with cerebral involvement. ( 26059804 )
2015
5
Vocal fold hyalinosis in Urbach-Wiethe disease, a rare cause of hoarseness. ( 26563017 )
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
Eyelid lesions in lipoid proteinosis or Urbach-Wiethe disease: case report and review of the literature. ( 21957955 )
2011
15
Marathon of eponyms: 21 Urbach-Wiethe disease (Lipoid proteinosis). ( 21902768 )
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
Laryngeal lesions in Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae). A histopathological and clinical study, including direct laryngoscopical examinations. ( 4136849 )
1974
36
Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis, hyalinosis cutis et mucosae). A clinico-genetic study of 14 families from northern Sweden. ( 4448684 )
1974
37
Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae). A review. ( 4590183 )
1973

Variations for Urbach-Wiethe Disease

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

66
id Symbol AA change Variation ID SNP ID
1 ECM1 p.Phe167Ile VAR_018691 rs121909116

ClinVar genetic disease variations for Urbach-Wiethe Disease:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 ECM1 ECM1, 1-BP DEL, 1019A deletion Pathogenic
2 ECM1 NM_004425.3(ECM1): c.1036C> T (p.Gln346Ter) single nucleotide variant Pathogenic rs121909114 GRCh37 Chromosome 1, 150484260: 150484260
3 ECM1 ECM1, 1163-BP DEL deletion Pathogenic
4 ECM1 ECM1, 1-BP DEL, 507T deletion Pathogenic
5 ECM1 NM_004425.3(ECM1): c.157C> T (p.Arg53Ter) single nucleotide variant Pathogenic rs121909115 GRCh37 Chromosome 1, 150482172: 150482172
6 ECM1 NM_004425.3(ECM1): c.499T> A (p.Phe167Ile) single nucleotide variant Pathogenic rs121909116 GRCh37 Chromosome 1, 150483465: 150483465
7 ECM1 ECM1, TRP160TER undetermined variant Pathogenic
8 ECM1 NM_004425.3(ECM1): c.506dupC (p.Gly170Trpfs) duplication Pathogenic rs869025564 GRCh38 Chromosome 1, 150510996: 150510996
9 ECM1 NM_004425.3(ECM1): c.507delT (p.Arg171Glyfs) deletion Pathogenic rs869025565 GRCh38 Chromosome 1, 150510997: 150510997
10 ECM1 NM_004425.3(ECM1): c.658T> G (p.Cys220Gly) single nucleotide variant Pathogenic rs869025566 GRCh38 Chromosome 1, 150511148: 150511148
11 ECM1 NM_004425.3(ECM1): c.727C> T (p.Arg243Ter) single nucleotide variant Pathogenic rs746217361 GRCh38 Chromosome 1, 150511475: 150511475
12 ECM1 NM_004425.3(ECM1): c.826C> T (p.Gln276Ter) single nucleotide variant Pathogenic rs869025563 GRCh38 Chromosome 1, 150511574: 150511574
13 ECM1 NM_004425.3(ECM1): c.93_94delGCinsTT (p.Arg31_Gln32delinsSerTer) indel Pathogenic rs869025567 GRCh37 Chromosome 1, 150482029: 150482030

Expression for Urbach-Wiethe Disease

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

Pathways for Urbach-Wiethe Disease

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.69 ECM1 HRAS HSPG2
2
Show member pathways
11.5 HRAS HSPG2
3 11.26 HRAS HSPG2

GO Terms for Urbach-Wiethe Disease

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

id Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 8.62 ECM1 HSPG2

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

id Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 8.8 ECM1 HRAS HSPG2

Sources for Urbach-Wiethe Disease

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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