LIP
MCID: LPD016
MIFTS: 66

Lipoid Proteinosis of Urbach and Wiethe (LIP)

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

Aliases & Classifications for Lipoid Proteinosis of Urbach and Wiethe

MalaCards integrated aliases for Lipoid Proteinosis of Urbach and Wiethe:

Name: Lipoid Proteinosis of Urbach and Wiethe 58 77 54 26 76 45 74
Lipoid Proteinosis 58 12 25 26 55 60 76 38 15
Urbach-Wiethe Disease 58 12 77 25 26 60 13
Hyalinosis Cutis Et Mucosae 58 25 54 26 60 76
Lipid Proteinosis 12 26 30 6 41
Lipoproteinosis 54 26
Urbach-Wiethe Lipoid Proteinosis 26
Lipoidosis Cutis Et Mucosae 26
Urbach-Wiethe Syndrome 26
Urbach Wiethe Disease 54
Lipoglycoproteinosis 26
Proteinosis Lipoid 56
Lipoidproteinosis 26
Lip 76

Characteristics:

Orphanet epidemiological data:

60
lipoid proteinosis
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
neuropsychiatric manifestations are variable


HPO:

33
lipoid proteinosis of urbach and wiethe:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lipoid Proteinosis of Urbach and Wiethe

NINDS : 55 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 : Lipoid Proteinosis of Urbach and Wiethe, also known as lipoid proteinosis, is related to gingival hypertrophy and superficial mycosis, and has symptoms including seizures, hoarseness and thickened tongue. An important gene associated with Lipoid Proteinosis of Urbach and Wiethe is ECM1 (Extracellular Matrix Protein 1), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. The drugs Angiotensin II and Telmisartan have been mentioned in the context of this disorder. Affiliated tissues include skin, temporal lobe and brain, and related phenotypes are subcutaneous nodule and abnormal blistering of the skin

Genetics Home Reference : 26 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 : 54 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.

OMIM : 58 Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane (summary by Hamada et al., 2002 and Hamada et al., 2003). (247100)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Urbach–Wiethe disease is a rare recessive genetic disorder, with approximately 400 reported cases since... more...

GeneReviews: NBK338540

Related Diseases for Lipoid Proteinosis of Urbach and Wiethe

Diseases related to Lipoid Proteinosis of Urbach and Wiethe via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1111)
# Related Disease Score Top Affiliating Genes
1 gingival hypertrophy 30.3 ANTXR2 MMP9
2 superficial mycosis 29.6 TMC6 TMC8
3 cleft lip/palate 12.7
4 cleft lip 12.7
5 lip cancer 12.5
6 cleft lip/palate-ectodermal dysplasia syndrome 12.5
7 ankyloblepharon-ectodermal defects-cleft lip/palate 12.4
8 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 12.4
9 blepharochalasis and double lip 12.4
10 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 12.3
11 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.3
12 van der woude syndrome 1 12.3
13 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.3
14 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 12.2
15 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 12.2
16 lip carcinoma in situ 12.2
17 brachial amelia, cleft lip, and holoprosencephaly 12.2
18 lower lip cancer 12.2
19 isolated cleft lip 12.2
20 lip, median nodule of upper 12.2
21 cleft lip and alveolus 12.2
22 upper lip cancer 12.1
23 pyramidal molars-abnormal upper lip syndrome 12.1
24 commissural lip fistula 12.1
25 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 12.1
26 uveal coloboma-cleft lip and palate-intellectual disability 12.1
27 microbrachycephaly ptosis cleft lip 12.1
28 lip and oral cavity cancer 12.1
29 lip prints 12.0
30 median cleft lip/mandibule 12.0
31 lower lip fistula 12.0
32 commissural lip pits 12.0
33 maxillary double lip 12.0
34 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 12.0
35 tibial hemimelia cleft lip palate 12.0
36 popliteal pterygium syndrome 12.0
37 orofacial cleft 11 12.0
38 cleft lip/palate with abnormal thumbs and microcephaly 12.0
39 branchiooculofacial syndrome 12.0
40 ectrodactyly and ectodermal dysplasia without cleft lip/palate 12.0
41 kniest-like dysplasia with pursed lips and ectopia lentis 12.0
42 cleft lip-retinopathy syndrome 12.0
43 lip, hamartomatous 11.9
44 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease 11.9
45 orofacial cleft 5 11.9
46 orofacial cleft 8 11.9
47 orofacial cleft 10 11.9
48 phlebectasia of lips 11.9
49 radius, aplasia of, with cleft lip/palate 11.9
50 split lower lip 11.9

Graphical network of the top 20 diseases related to Lipoid Proteinosis of Urbach and Wiethe:



Diseases related to Lipoid Proteinosis of Urbach and Wiethe

Symptoms & Phenotypes for Lipoid Proteinosis of Urbach and Wiethe

Human phenotypes related to Lipoid Proteinosis of Urbach and Wiethe:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 60 33 hallmark (90%) Very frequent (99-80%) HP:0001482
2 abnormal blistering of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008066
3 thick lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000179
4 acne 60 33 hallmark (90%) Very frequent (99-80%) HP:0001061
5 hoarse voice 60 33 hallmark (90%) Very frequent (99-80%) HP:0001609
6 papule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200034
7 abnormality of the gingiva 60 33 hallmark (90%) Very frequent (99-80%) HP:0000168
8 pustule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200039
9 scarring 60 33 hallmark (90%) Very frequent (99-80%) HP:0100699
10 tongue nodules 60 33 hallmark (90%) Very frequent (99-80%) HP:0000199
11 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
12 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
13 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
14 hyperkeratosis 60 33 frequent (33%) Frequent (79-30%) HP:0000962
15 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
16 verrucae 60 33 frequent (33%) Frequent (79-30%) HP:0200043
17 microglossia 60 33 frequent (33%) Frequent (79-30%) HP:0000171
18 alopecia of scalp 33 frequent (33%) HP:0002293
19 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
20 cerebral calcification 60 33 occasional (7.5%) Occasional (29-5%) HP:0002514
21 nasal polyposis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100582
22 thickened skin 60 33 Very frequent (99-80%) HP:0001072
23 hallucinations 33 HP:0000738
24 memory impairment 33 HP:0002354
25 paranoia 33 HP:0011999
26 aggressive behavior 33 HP:0000718
27 abnormality of oral mucosa 60 Very frequent (99-80%)
28 scalp hair loss 60 Frequent (79-30%)
29 patchy alopecia 33 HP:0002232
30 bilateral intracranial calcifications 33 HP:0005671

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
memory impairment
episodic absence-like spells
intracranial calcifications in the anterior mesial temporal lobes
calcification of the amygdala and the amygdala-hippocampal transition area

Skin Nails Hair Hair:
patchy alopecia

Head And Neck Face:
acneform lesions

Respiratory Larynx:
laryngeal lesions resulting in hoarseness

Skin Nails Hair Skin Histology:
deposition of hyaline material in the skin

Neurologic Behavioral Psychiatric Manifestations:
hallucinations
paranoia
aggressive behavior
executive dysfunction
absence of fear

Head And Neck Mouth:
thickened tongue
papules on the lips
pharyngeal lesions

Head And Neck Eyes:
papules along the eyebrows and palpebral fissures

Skin Nails Hair Skin:
yellow, papular lesions of the lip, soft palate, pharynx
thickened skin over the elbows and along the fingers
verrucous lesions
acneform facial lesions

Voice:
hoarse voice due to laryngeal infiltration

Clinical features from OMIM:

247100

UMLS symptoms related to Lipoid Proteinosis of Urbach and Wiethe:


seizures, hoarseness, thickened tongue

GenomeRNAi Phenotypes related to Lipoid Proteinosis of Urbach and Wiethe according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ANTXR2 COL1A2 DST ECM1 EFEMP1 EMC1

MGI Mouse Phenotypes related to Lipoid Proteinosis of Urbach and Wiethe:

47 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.34 ANTXR2 COL1A2 EFEMP1 FBLN1 FN1 HSPG2
2 cellular MP:0005384 10.32 ANTXR2 COL1A2 FBLN1 FERMT1 FN1 HSPG2
3 growth/size/body region MP:0005378 10.26 COL1A2 EFEMP1 FBLN1 FERMT1 FN1 HSPG2
4 homeostasis/metabolism MP:0005376 10.23 COL1A2 EFEMP1 FERMT1 FN1 HSPG2 KRT14
5 immune system MP:0005387 10.17 ANTXR2 ECM1 EFEMP1 FBLN1 FERMT1 FN1
6 mortality/aging MP:0010768 10.15 ANTXR2 COL1A2 ECM1 EFEMP1 FBLN1 FERMT1
7 integument MP:0010771 10.1 COL1A2 EFEMP1 FBLN1 FERMT1 FN1 HSPG2
8 digestive/alimentary MP:0005381 10.04 EFEMP1 FERMT1 HSPG2 KRT14 MMP9 OXT
9 muscle MP:0005369 10.02 COL1A2 EFEMP1 FBLN1 FN1 HSPG2 LAMC1
10 renal/urinary system MP:0005367 9.8 EFEMP1 FBLN1 FERMT1 LAMC1 MMP9 OXT
11 respiratory system MP:0005388 9.7 FBLN1 HSPG2 KRT14 LAMC1 MMP9 PECAM1
12 skeleton MP:0005390 9.56 COL1A2 EFEMP1 FBLN1 FN1 HSPG2 MMP9
13 vision/eye MP:0005391 9.17 EFEMP1 FBLN1 HSPG2 KRT14 LAMC1 MMP9

Drugs & Therapeutics for Lipoid Proteinosis of Urbach and Wiethe

Drugs for Lipoid Proteinosis of Urbach and Wiethe (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational 11128-99-7, 68521-88-0, 4474-91-3 172198
2
Telmisartan Approved, Investigational 144701-48-4 65999
3
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
4 Anesthetics Not Applicable
5 Analgesics Not Applicable
6 Anesthetics, Local Not Applicable
7 Hypnotics and Sedatives Not Applicable
8 Angiotensin Receptor Antagonists
9 Giapreza
10 Antihypertensive Agents
11 Angiotensinogen
12 Angiotensin II Type 1 Receptor Blockers
13 Narcotics
14 Anesthetics, General
15 Peripheral Nervous System Agents
16 Adjuvants, Anesthesia
17 Anesthetics, Intravenous
18 Central Nervous System Depressants
19 Analgesics, Opioid

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized Comparison of Laparoscopic Myotomy and Pneumatic Dilatation for Achalasia Unknown status NCT00188344 Not Applicable
2 POEM for Spastic Esophageal Disorders Unknown status NCT02425033 Not Applicable
3 Observational Non-interventional Study (Anwendungsbeobachtung) With Telmisartan in High-risk Hypertensives Completed NCT00539487
4 Quality of Life in Daxas-treated Patients Older Than 18 Years With Severe COPD Completed NCT01285180 Daxas
5 Quality of Life in Daxas-treated Patients Older Than 18 Years With Severe Chronic Obstructive Pulmonary Disease (COPD) (DACOTA) Completed NCT01285167 Daxas
6 Matrifen® for Therapy of Severe Chronic Pain® Completed NCT00699335 Fentanyl
7 Efficacy of Matrifen in Patients Older Than 18 Years With Severe, Chronic Pain Completed NCT00556270 Matrifen
8 Tele-CBT Following Bariatric Surgery: Randomized Control Trial Recruiting NCT03315247 Not Applicable

Search NIH Clinical Center for Lipoid Proteinosis of Urbach and Wiethe

Cochrane evidence based reviews: lipoid proteinosis of urbach and wiethe

Genetic Tests for Lipoid Proteinosis of Urbach and Wiethe

Genetic tests related to Lipoid Proteinosis of Urbach and Wiethe:

# Genetic test Affiliating Genes
1 Lipid Proteinosis 30 ECM1

Anatomical Context for Lipoid Proteinosis of Urbach and Wiethe

MalaCards organs/tissues related to Lipoid Proteinosis of Urbach and Wiethe:

42
Skin, Temporal Lobe, Brain, Amygdala, Heart, Tongue, Kidney

Publications for Lipoid Proteinosis of Urbach and Wiethe

Articles related to Lipoid Proteinosis of Urbach and Wiethe:

(show top 50) (show all 298)
# Title Authors Year
1
Is it always blepharitis? Urbach-Wiethe syndrome (lipoid proteinosis). ( 30916217 )
2019
2
Pyoderma gangrenosum in a patient with lipoid proteinosis (Urbach-Wiethe disease). ( 30868669 )
2019
3
An Unusual Case of Erythropoietic Protoporphyria Mimicking Lipoid Proteinosis. ( 30745642 )
2019
4
Lipoid Proteinosis: A Rare Cause of Hoarseness. ( 30385011 )
2019
5
[Retracted] Pathogenetic mechanism of lipoid proteinosis caused by mutation of the extracellular matrix protein 1 gene. ( 30720111 )
2019
6
The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations. ( 28434238 )
2018
7
Lipoid proteinosis: towards predictive clinical clues. ( 29214664 )
2018
8
Oral manifestations of lipoid proteinosis in a 10-year-old female: A case report and literature update. ( 29548668 )
2018
9
Esophageal Aperistalsis in a Patient with Lipoid Proteinosis. ( 29682250 )
2018
10
Pathogenetic mechanism of lipoid proteinosis caused by mutation of the extracellular matrix protein 1 gene. ( 29693130 )
2018
11
Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation. ( 29718750 )
2018
12
Lipoid proteinosis: a first report of mutation Val10Gly in the signal peptide of the ECM1 gene. ( 29760624 )
2018
13
Lipoid proteinosis: Unfamiliar skin findings delay diagnosis. ( 30003130 )
2018
14
The management of laryngeal lipoid proteinosis. ( 30099970 )
2018
15
Lipoid Proteinosis: Skin Resurfacing with Combination of Fractional CO2 and Non-ablative Radio Frequency: A Rare Case Report. ( 30210213 )
2018
16
Lipoid Proteinosis. ( 30383126 )
2018
17
Lipoid proteinosis or Urbach-Wiethe disease: Description of a new case with cerebral involvement. ( 26059804 )
2017
18
A Case Report: Hybrid Treatment Approach to Lipoid Proteinosis of the Larynx. ( 27049452 )
2017
19
Lipoid proteinosis unveiled by oral mucosal lesions: a comprehensive analysis of 137 cases. ( 27900487 )
2017
20
Clinical clues early in the lives of individuals with lipoid proteinosis can determine the course of the disease. ( 28244239 )
2017
21
Lipoid Proteinosis: A Previously Unrecognized Mutation and Therapeutic Response to Acitretin. ( 28681064 )
2017
22
Lipoid proteinosis: A case with distinct histopathological and radiological findings. ( 28685839 )
2017
23
Lipoid proteinosis: A clinical and molecular study in Egyptian patients. ( 28720532 )
2017
24
Lipoid proteinosis. ( 29054897 )
2017
25
Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of the ECM1 gene. ( 26778481 )
2016
26
Lipoid proteinosis. ( 27014775 )
2016
27
Urbach-Weithe disease (lipoid proteinosis): A classical presentation. ( 27057509 )
2016
28
A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature. ( 27194970 )
2016
29
Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis. ( 27241643 )
2016
30
Lipoid Proteinosis. ( 27365938 )
2016
31
Novel Mutations in Extracellular Matrix Protein 1 Gene in a Chinese Patient with Lipoid Proteinosis. ( 27824015 )
2016
32
Epidermodysplasia verruciformis in lipoid proteinosis: case report and discussion of pathophysiology. ( 23534907 )
2015
33
Lipoid proteinosis: A review with two case reports. ( 26097361 )
2015
34
Moniliform Blepharosis of Lipoid Proteinosis. ( 26158437 )
2015
35
Lipoid proteinosis. ( 26564090 )
2015
36
Lipoid proteinosis: A rare entity. ( 26576529 )
2015
37
Ocular manifestations in lipoid proteinosis: A rare clinical entity. ( 26655007 )
2015
38
Vesiculobullous eruption revealing lipoid proteinosis: A potential diagnostic pitfall. A case report and a brief review. ( 30805456 )
2015
39
Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA. ( 25518807 )
2015
40
Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1. ( 25529926 )
2015
41
Lipoid proteinosis of the larynx. ( 25738725 )
2015
42
Lipoid proteinosis: a rare encounter in dental office. ( 25874136 )
2015
43
Lipoid proteinosis. ( 25994884 )
2015
44
Treatment of lipoid proteinosis with ablative Er:YAG laser resurfacing. ( 26031844 )
2015
45
Radiologic presentation of lipoid proteinosis with symmetrical medial temporal lobe calcifications. ( 27398129 )
2015
46
Demographic, clinical, and radiologic signs and treatment responses of lipoid proteinosis patients: a 10-case series from Şanlıurfa. ( 24320796 )
2014
47
Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis. ( 24413997 )
2014
48
Clinical and molecular study of the extracellular matrix protein 1 gene in a spanish family with lipoid proteinosis. ( 24465266 )
2014
49
Lipoid proteinosis in a Chinese patient. ( 24521736 )
2014
50
Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients. ( 24708644 )
2014

Variations for Lipoid Proteinosis of Urbach and Wiethe

UniProtKB/Swiss-Prot genetic disease variations for Lipoid Proteinosis of Urbach and Wiethe:

76
# Symbol AA change Variation ID SNP ID
1 ECM1 p.Phe167Ile VAR_018691 rs121909116

ClinVar genetic disease variations for Lipoid Proteinosis of Urbach and Wiethe:

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 ECM1 NM_004425.4(ECM1): c.1019del (p.Gln340Argfs) deletion Pathogenic GRCh38 Chromosome 1, 150511767: 150511767
2 ECM1 NM_004425.4(ECM1): c.1019del (p.Gln340Argfs) deletion Pathogenic GRCh37 Chromosome 1, 150484243: 150484243
3 ECM1 NM_004425.3(ECM1): c.1036C> T (p.Gln346Ter) single nucleotide variant Pathogenic rs121909114 GRCh37 Chromosome 1, 150484260: 150484260
4 ECM1 NM_004425.3(ECM1): c.1036C> T (p.Gln346Ter) single nucleotide variant Pathogenic rs121909114 GRCh38 Chromosome 1, 150511784: 150511784
5 ECM1 ECM1, 1163-BP DEL deletion Pathogenic
6 ECM1 NM_004425.3(ECM1): c.157C> T (p.Arg53Ter) single nucleotide variant Pathogenic rs121909115 GRCh37 Chromosome 1, 150482172: 150482172
7 ECM1 NM_004425.3(ECM1): c.157C> T (p.Arg53Ter) single nucleotide variant Pathogenic rs121909115 GRCh38 Chromosome 1, 150509696: 150509696
8 ECM1 NM_004425.3(ECM1): c.499T> A (p.Phe167Ile) single nucleotide variant Pathogenic rs121909116 GRCh37 Chromosome 1, 150483465: 150483465
9 ECM1 NM_004425.3(ECM1): c.499T> A (p.Phe167Ile) single nucleotide variant Pathogenic rs121909116 GRCh38 Chromosome 1, 150510989: 150510989
10 ECM1 NM_004425.4(ECM1): c.480G> A (p.Trp160Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 150510970: 150510970
11 ECM1 NM_004425.4(ECM1): c.480G> A (p.Trp160Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 150483446: 150483446
12 ECM1 NM_004425.3(ECM1): c.507delT (p.Arg171Glyfs) deletion Pathogenic rs869025565 GRCh37 Chromosome 1, 150483473: 150483473
13 ECM1 NM_004425.3(ECM1): c.658T> G (p.Cys220Gly) single nucleotide variant Pathogenic rs869025566 GRCh38 Chromosome 1, 150511148: 150511148
14 ECM1 NM_004425.3(ECM1): c.506dupC (p.Gly170Trpfs) duplication Pathogenic rs869025564 GRCh38 Chromosome 1, 150510996: 150510996
15 ECM1 NM_004425.3(ECM1): c.506dupC (p.Gly170Trpfs) duplication Pathogenic rs869025564 GRCh37 Chromosome 1, 150483472: 150483472
16 ECM1 NM_004425.3(ECM1): c.507delT (p.Arg171Glyfs) deletion Pathogenic rs869025565 GRCh38 Chromosome 1, 150510997: 150510997
17 ECM1 NM_004425.3(ECM1): c.658T> G (p.Cys220Gly) single nucleotide variant Pathogenic rs869025566 GRCh37 Chromosome 1, 150483624: 150483624
18 ECM1 NM_004425.3(ECM1): c.727C> T (p.Arg243Ter) single nucleotide variant Pathogenic rs746217361 GRCh38 Chromosome 1, 150511475: 150511475
19 ECM1 NM_004425.3(ECM1): c.727C> T (p.Arg243Ter) single nucleotide variant Pathogenic rs746217361 GRCh37 Chromosome 1, 150483951: 150483951
20 ECM1 NM_004425.3(ECM1): c.826C> T (p.Gln276Ter) single nucleotide variant Pathogenic rs869025563 GRCh38 Chromosome 1, 150511574: 150511574
21 ECM1 NM_004425.3(ECM1): c.826C> T (p.Gln276Ter) single nucleotide variant Pathogenic rs869025563 GRCh37 Chromosome 1, 150484050: 150484050
22 ECM1 NM_004425.3(ECM1): c.93_94delGCinsTT (p.Arg31_Gln32delinsSerTer) indel Pathogenic rs869025567 GRCh37 Chromosome 1, 150482029: 150482030
23 ECM1 NM_004425.3(ECM1): c.93_94delGCinsTT (p.Arg31_Gln32delinsSerTer) indel Pathogenic rs869025567 GRCh38 Chromosome 1, 150509553: 150509554
24 ECM1 NM_004425.3(ECM1): c.1393-1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 1, 150513236: 150513236
25 ECM1 NM_004425.3(ECM1): c.1393-1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 1, 150485712: 150485712

Expression for Lipoid Proteinosis of Urbach and Wiethe

Search GEO for disease gene expression data for Lipoid Proteinosis of Urbach and Wiethe.

Pathways for Lipoid Proteinosis of Urbach and Wiethe

Pathways related to Lipoid Proteinosis of Urbach and Wiethe according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.22 COL1A2 ECM1 EFEMP1 FN1 HSPG2 LAMC1
2
Show member pathways
12.88 COL1A2 ECM1 EFEMP1 FN1 HSPG2 LAMC1
3
Show member pathways
11.98 COL1A2 DST EFEMP1 FBLN1 FN1 HSPG2
4
Show member pathways
11.96 COL1A2 ECM1 EFEMP1 FN1 HSPG2 LAMC1
5
Show member pathways
11.95 COL1A2 FN1 HSPG2 LAMC1 PECAM1
6
Show member pathways
11.83 FN1 HSPG2 LAMC1 MMP9
7 11.81 FERMT1 LAMC1 MMP9
8 11.77 COL1A2 FN1 MMP9
9 11.68 COL1A2 FN1 LAMC1
10 11.34 COL1A2 FN1 LAMC1 MMP9 NID1
11 11.3 COL1A2 FN1 LAMC1
12 11.22 COL1A2 FN1 LAMC1 PECAM1
13 11.1 COL1A2 FN1 LAMC1
14 10.94 ECM1 FBLN1 LAMC1 LYVE1 MMP9
15 10.92 COL1A2 FN1
16 10.84 COL1A2 ECM1 EFEMP1 FN1 HSPG2 LAMC1

GO Terms for Lipoid Proteinosis of Urbach and Wiethe

Cellular components related to Lipoid Proteinosis of Urbach and Wiethe according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 9.73 DST FBLN1 FN1 HSPG2 LAMC1 NID1
2 cell periphery GO:0071944 9.67 KRT14 LYVE1 NID1 PECAM1
3 extracellular matrix GO:0031012 9.56 COL1A2 ECM1 EFEMP1 FBLN1 FN1 LAMC1
4 collagen-containing extracellular matrix GO:0062023 9.28 COL1A2 ECM1 EFEMP1 FBLN1 FN1 HSPG2
5 extracellular region GO:0005576 10.14 ANTXR2 COL1A2 ECM1 EFEMP1 FBLN1 FN1
6 extracellular space GO:0005615 10.06 COL1A2 ECM1 EFEMP1 FBLN1 FN1 HSPG2
7 extracellular exosome GO:0070062 10 COL1A2 ECM1 EFEMP1 FBLN1 FN1 HSPG2

Biological processes related to Lipoid Proteinosis of Urbach and Wiethe according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.71 ECM1 FN1 HSPG2 PECAM1
2 platelet degranulation GO:0002576 9.7 ECM1 FN1 PECAM1
3 cell adhesion GO:0007155 9.7 DST FERMT1 FN1 LAMC1 LYVE1 NID1
4 wound healing GO:0042060 9.69 DST FN1 PECAM1
5 cell-matrix adhesion GO:0007160 9.65 FN1 LYVE1 NID1
6 integrin-mediated signaling pathway GO:0007229 9.63 DST FBLN1 FERMT1
7 leukocyte migration GO:0050900 9.62 COL1A2 FN1 MMP9 PECAM1
8 glycosaminoglycan catabolic process GO:0006027 9.54 HSPG2 LYVE1
9 response to wounding GO:0009611 9.54 DST FN1 LYVE1
10 positive regulation of peptidase activity GO:0010952 9.49 FBLN1 FN1
11 basement membrane organization GO:0071711 9.43 FERMT1 NID1
12 negative regulation of stem cell proliferation GO:2000647 9.26 FBLN1 FERMT1
13 extracellular matrix organization GO:0030198 9.23 COL1A2 FBLN1 FN1 HSPG2 LAMC1 MMP9
14 hemidesmosome assembly GO:0031581 9.13 DST KRT14 LAMC1

Molecular functions related to Lipoid Proteinosis of Urbach and Wiethe according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.8 DST EFEMP1 FBLN1 HSPG2 NID1
2 protease binding GO:0002020 9.54 COL1A2 ECM1 FN1
3 laminin binding GO:0043236 9.43 ECM1 NID1
4 protein C-terminus binding GO:0008022 9.35 DST ECM1 FBLN1 FN1 HSPG2
5 collagen binding GO:0005518 9.33 FN1 MMP9 NID1
6 mechanosensitive ion channel activity GO:0008381 9.32 TMC6 TMC8
7 peptidase activator activity GO:0016504 9.26 FBLN1 FN1
8 extracellular matrix structural constituent GO:0005201 9.17 COL1A2 ECM1 EFEMP1 FBLN1 FN1 LAMC1

Sources for Lipoid Proteinosis of Urbach and Wiethe

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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