LIP
MCID: LPD016
MIFTS: 61

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 57 76 53 25 75 44 73
Lipoid Proteinosis 57 12 24 25 54 59 75 37 15
Hyalinosis Cutis Et Mucosae 57 24 53 25 59 75
Urbach-Wiethe Disease 57 12 24 25 59 13
Lipid Proteinosis 12 25 29 6 40
Lipoproteinosis 53 25
Urbach-Wiethe Lipoid Proteinosis 25
Lipoidosis Cutis Et Mucosae 25
Urbach-Wiethe Syndrome 25
Urbach Wiethe Disease 53
Urbachwiethe Disease 76
Lipoglycoproteinosis 25
Proteinosis Lipoid 55
Lipoidproteinosis 25
Lip 75

Characteristics:

Orphanet epidemiological data:

59
lipoid proteinosis
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
neuropsychiatric manifestations are variable


HPO:

32
lipoid proteinosis of urbach and wiethe:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lipoid Proteinosis of Urbach and Wiethe

NINDS : 54 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 epidermodysplasia verruciformis, 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 Degradation of the extracellular matrix and ECM-receptor interaction. The drugs Telmisartan and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include skin, temporal lobe and brain, and related phenotypes are high palate and seizures

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 : 53 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 : 57 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 : 75 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 : 76 Urbach�??Wiethe disease (also known as lipoid proteinosis and hyalinosis cutis et mucosae) is a rare... 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 997)
# Related Disease Score Top Affiliating Genes
1 gingival hypertrophy 30.2 ANTXR2 MMP9
2 epidermodysplasia verruciformis 30.0 ECM1 KRT14 TMC6 TMC8
3 superficial mycosis 29.5 TMC6 TMC8
4 cleft lip/palate 12.6
5 cleft lip 12.6
6 lip cancer 12.4
7 cleft lip/palate-ectodermal dysplasia syndrome 12.4
8 ankyloblepharon-ectodermal defects-cleft lip/palate 12.4
9 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 12.4
10 blepharochalasis and double lip 12.3
11 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 12.3
12 van der woude syndrome 1 12.3
13 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.3
14 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 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 12.1
18 lower lip cancer 12.1
19 isolated cleft lip 12.1
20 lip, median nodule of upper 12.1
21 cleft lip and alveolus 12.1
22 upper lip cancer 12.1
23 commissural lip fistula 12.1
24 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 12.0
25 uveal coloboma-cleft lip and palate-intellectual disability 12.0
26 microbrachycephaly ptosis cleft lip 12.0
27 lip and oral cavity cancer 12.0
28 lip prints 12.0
29 median cleft lip/mandibule 12.0
30 commissural lip pits 12.0
31 lower lip fistula 12.0
32 maxillary double lip 12.0
33 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 12.0
34 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 12.0
35 tibial hemimelia cleft lip palate 12.0
36 popliteal pterygium syndrome 12.0
37 cleft lip/palate with abnormal thumbs and microcephaly 11.9
38 branchiooculofacial syndrome 11.9
39 ectrodactyly and ectodermal dysplasia without cleft lip/palate 11.9
40 kniest-like dysplasia with pursed lips and ectopia lentis 11.9
41 cleft lip-retinopathy syndrome 11.9
42 lip, hamartomatous 11.9
43 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease 11.9
44 phlebectasia of lips 11.8
45 radius, aplasia of, with cleft lip/palate 11.8
46 split lower lip 11.8
47 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate 11.8
48 cleft lip and palate malrotation cardiopathy 11.8
49 cleft lip palate dysmorphism kumar type 11.8
50 cleft lip palate oligodontia syndactyly pili torti 11.8

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

Symptoms via clinical synopsis from OMIM:

57
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 Eyes:
papules along the eyebrows and palpebral fissures

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 Face:
acneform lesions

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

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

Human phenotypes related to Lipoid Proteinosis of Urbach and Wiethe:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
4 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
5 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
6 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
7 hyperkeratosis 59 32 frequent (33%) Frequent (79-30%) HP:0000962
8 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
9 thick lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000179
10 acne 59 32 hallmark (90%) Very frequent (99-80%) HP:0001061
11 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
12 thickened skin 59 32 Very frequent (99-80%) HP:0001072
13 hoarse voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001609
14 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
15 nasal polyposis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100582
16 verrucae 59 32 frequent (33%) Frequent (79-30%) HP:0200043
17 abnormality of the gingiva 59 32 hallmark (90%) Very frequent (99-80%) HP:0000168
18 pustule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200039
19 scarring 59 32 hallmark (90%) Very frequent (99-80%) HP:0100699
20 microglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000171
21 tongue nodules 59 32 hallmark (90%) Very frequent (99-80%) HP:0000199
22 hallucinations 32 HP:0000738
23 memory impairment 32 HP:0002354
24 paranoia 32 HP:0011999
25 aggressive behavior 32 HP:0000718
26 abnormality of oral mucosa 59 Very frequent (99-80%)
27 alopecia of scalp 32 frequent (33%) HP:0002293
28 scalp hair loss 59 Frequent (79-30%)
29 patchy alopecia 32 HP:0002232
30 bilateral intracranial calcifications 32 HP:0005671

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00381-A-1 9.98 PPOX
2 Decreased viability GR00402-S-2 9.98 ANTXR2 DST ECM1 EFEMP1 EMC1 FBLN1
3 no effect GR00402-S-1 9.62 ANTXR2 DST ECM1 EFEMP1 EMC1 FBLN1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.14 ANTXR2 FBLN1 FBN1 FERMT1 HSPG2 KRT14
2 cardiovascular system MP:0005385 10.13 ANTXR2 EFEMP1 FBLN1 FBN1 HSPG2 LAMC1
3 immune system MP:0005387 10.07 ANTXR2 ECM1 EFEMP1 FBLN1 FBN1 FERMT1
4 integument MP:0010771 9.92 EFEMP1 FBLN1 FBN1 FERMT1 HSPG2 KRT14
5 muscle MP:0005369 9.86 EFEMP1 FBLN1 FBN1 HSPG2 LAMC1 MMP9
6 renal/urinary system MP:0005367 9.7 EFEMP1 FBLN1 FBN1 FERMT1 LAMC1 MMP9
7 respiratory system MP:0005388 9.5 FBLN1 FBN1 HSPG2 KRT14 LAMC1 MMP9
8 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 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Telmisartan Approved, Investigational 144701-48-4 65999
2
Angiotensin II Approved, Investigational 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
3
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
4 Anesthetics, Local Not Applicable
5 Hypnotics and Sedatives Not Applicable
6 Anesthetics Not Applicable
7 Analgesics Not Applicable
8 Angiotensin Receptor Antagonists
9 Angiotensin II Type 1 Receptor Blockers
10 Antihypertensive Agents
11 Angiotensinogen
12 Central Nervous System Depressants
13 Adjuvants, Anesthesia
14 Analgesics, Opioid
15 Anesthetics, Intravenous
16 Anesthetics, General
17 Peripheral Nervous System Agents
18 Narcotics

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 29 ECM1

Anatomical Context for Lipoid Proteinosis of Urbach and Wiethe

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

41
Skin, Temporal Lobe, Brain, Amygdala, Tongue, Heart, Eye

Publications for Lipoid Proteinosis of Urbach and Wiethe

Articles related to Lipoid Proteinosis of Urbach and Wiethe:

(show top 50) (show all 294)
# Title Authors Year
1
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
2
Lipoid proteinosis: towards predictive clinical clues. ( 29214664 )
2018
3
Oral manifestations of lipoid proteinosis in a 10-year-old female: A case report and literature update. ( 29548668 )
2018
4
Esophageal Aperistalsis in a Patient with Lipoid Proteinosis. ( 29682250 )
2018
5
Pathogenetic mechanism of lipoid proteinosis caused by mutation of the extracellular matrix protein 1 gene. ( 29693130 )
2018
6
Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation. ( 29718750 )
2018
7
Lipoid proteinosis: a first report of mutation Val10Gly in the signal peptide of the ECM1 gene. ( 29760624 )
2018
8
Lipoid proteinosis: Unfamiliar skin findings delay diagnosis. ( 30003130 )
2018
9
The management of laryngeal lipoid proteinosis. ( 30099970 )
2018
10
Lipoid Proteinosis: Skin Resurfacing with Combination of Fractional CO2 and Non-ablative Radio Frequency: A Rare Case Report. ( 30210213 )
2018
11
Lipoid Proteinosis. ( 30383126 )
2018
12
Lipoid Proteinosis: A Rare Cause of Hoarseness. ( 30385011 )
2018
13
Lipoid proteinosis: A case with distinct histopathological and radiological findings. ( 28685839 )
2017
14
Lipoid proteinosis: A clinical and molecular study in Egyptian patients. ( 28720532 )
2017
15
A Case Report: Hybrid Treatment Approach to Lipoid Proteinosis of the Larynx. ( 27049452 )
2017
16
Lipoid proteinosis unveiled by oral mucosal lesions: a comprehensive analysis of 137 cases. ( 27900487 )
2017
17
Clinical clues early in the lives of individuals with lipoid proteinosis can determine the course of the disease. ( 28244239 )
2017
18
Lipoid Proteinosis: A Previously Unrecognized Mutation and Therapeutic Response to Acitretin. ( 28681064 )
2017
19
Lipoid proteinosis. ( 29054897 )
2017
20
Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis. ( 27241643 )
2016
21
Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of the ECM1 gene. ( 26778481 )
2016
22
Lipoid proteinosis. ( 27014775 )
2016
23
Urbach-Weithe disease (lipoid proteinosis): A classical presentation. ( 27057509 )
2016
24
A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature. ( 27194970 )
2016
25
Lipoid Proteinosis. ( 27365938 )
2016
26
Novel Mutations in Extracellular Matrix Protein 1 Gene in a Chinese Patient with Lipoid Proteinosis. ( 27824015 )
2016
27
Lipoid proteinosis of the larynx. ( 25738725 )
2015
28
Lipoid proteinosis or Urbach-Wiethe disease: Description of a new case with cerebral involvement. ( 26059804 )
2015
29
Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1. ( 25529926 )
2015
30
Lipoid proteinosis. ( 26564090 )
2015
31
Lipoid proteinosis: a rare encounter in dental office. ( 25874136 )
2015
32
Lipoid proteinosis. ( 25994884 )
2015
33
Treatment of lipoid proteinosis with ablative Er:YAG laser resurfacing. ( 26031844 )
2015
34
Lipoid proteinosis: A review with two case reports. ( 26097361 )
2015
35
Moniliform Blepharosis of Lipoid Proteinosis. ( 26158437 )
2015
36
Lipoid proteinosis: A rare entity. ( 26576529 )
2015
37
Ocular manifestations in lipoid proteinosis: A rare clinical entity. ( 26655007 )
2015
38
Radiologic presentation of lipoid proteinosis with symmetrical medial temporal lobe calcifications. ( 27398129 )
2015
39
Lipoid Proteinosis: a case report in two siblings. ( 25780975 )
2014
40
Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients. ( 24708644 )
2014
41
Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis. ( 24413997 )
2014
42
Clinical and molecular study of the extracellular matrix protein 1 gene in a spanish family with lipoid proteinosis. ( 24465266 )
2014
43
Lipoid proteinosis in a Chinese patient. ( 24521736 )
2014
44
Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA. ( 25518807 )
2014
45
Lipoid proteinosis (Urbach-Wiethe disease) in two siblings. ( 25593816 )
2014
46
Lipoid proteinosis: rare case confirmed by ECM1 mutation detection. ( 25441608 )
2014
47
Two Egyptian cases of lipoid proteinosis successfully treated with acitretin. ( 24748909 )
2014
48
Gastrointestinal involvement in lipoid proteinosis: a ten-year follow-up of a brazilian female patient. ( 25045357 )
2014
49
Lipoid proteinosis: pathognomonic clinical and radiological features. ( 24722720 )
2014
50
N-Glycosylation of extracellular matrix protein 1 (ECM1) regulates its secretion, which is unrelated to lipoid proteinosis. ( 25379385 )
2014

Variations for Lipoid Proteinosis of Urbach and Wiethe

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

75
# 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 22)
# 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 NM_004425.3(ECM1): c.1036C> T (p.Gln346Ter) single nucleotide variant Pathogenic rs121909114 GRCh38 Chromosome 1, 150511784: 150511784
4 ECM1 ECM1, 1163-BP DEL deletion Pathogenic
5 ECM1 ECM1, 1-BP DEL, 507T 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 ECM1, TRP160TER undetermined variant Pathogenic
11 ECM1 NM_004425.3(ECM1): c.506dupC (p.Gly170Trpfs) duplication Pathogenic rs869025564 GRCh38 Chromosome 1, 150510996: 150510996
12 ECM1 NM_004425.3(ECM1): c.506dupC (p.Gly170Trpfs) duplication Pathogenic rs869025564 GRCh37 Chromosome 1, 150483472: 150483472
13 ECM1 NM_004425.3(ECM1): c.507delT (p.Arg171Glyfs) deletion Pathogenic rs869025565 GRCh38 Chromosome 1, 150510997: 150510997
14 ECM1 NM_004425.3(ECM1): c.507delT (p.Arg171Glyfs) deletion Pathogenic rs869025565 GRCh37 Chromosome 1, 150483473: 150483473
15 ECM1 NM_004425.3(ECM1): c.658T> G (p.Cys220Gly) single nucleotide variant Pathogenic rs869025566 GRCh38 Chromosome 1, 150511148: 150511148
16 ECM1 NM_004425.3(ECM1): c.658T> G (p.Cys220Gly) single nucleotide variant Pathogenic rs869025566 GRCh37 Chromosome 1, 150483624: 150483624
17 ECM1 NM_004425.3(ECM1): c.727C> T (p.Arg243Ter) single nucleotide variant Pathogenic rs746217361 GRCh38 Chromosome 1, 150511475: 150511475
18 ECM1 NM_004425.3(ECM1): c.727C> T (p.Arg243Ter) single nucleotide variant Pathogenic rs746217361 GRCh37 Chromosome 1, 150483951: 150483951
19 ECM1 NM_004425.3(ECM1): c.826C> T (p.Gln276Ter) single nucleotide variant Pathogenic rs869025563 GRCh38 Chromosome 1, 150511574: 150511574
20 ECM1 NM_004425.3(ECM1): c.826C> T (p.Gln276Ter) single nucleotide variant Pathogenic rs869025563 GRCh37 Chromosome 1, 150484050: 150484050
21 ECM1 NM_004425.3(ECM1): c.93_94delGCinsTT (p.Arg31_Gln32delinsSerTer) indel Pathogenic rs869025567 GRCh37 Chromosome 1, 150482029: 150482030
22 ECM1 NM_004425.3(ECM1): c.93_94delGCinsTT (p.Arg31_Gln32delinsSerTer) indel Pathogenic rs869025567 GRCh38 Chromosome 1, 150509553: 150509554

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

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 9.63 DST FBLN1 FBN1 HSPG2 LAMC1 NID1
2 cell periphery GO:0071944 9.58 KRT14 LYVE1 NID1
3 extracellular matrix GO:0031012 9.56 ECM1 EFEMP1 FBLN1 FBN1 HSPG2 LAMC1
4 collagen-containing extracellular matrix GO:0062023 9.23 ECM1 EFEMP1 FBLN1 FBN1 HSPG2 LAMC1
5 extracellular exosome GO:0070062 10.07 ECM1 EFEMP1 FBLN1 HBA1 HSPG2 IVL
6 extracellular space GO:0005615 10.02 ECM1 EFEMP1 FBLN1 FBN1 HBA1 HSPG2
7 extracellular region GO:0005576 10.02 ANTXR2 ECM1 EFEMP1 FBLN1 FBN1 HBA1

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.83 DST FERMT1 LAMC1 LYVE1 NID1
2 integrin-mediated signaling pathway GO:0007229 9.58 DST FBLN1 FERMT1
3 glycosaminoglycan catabolic process GO:0006027 9.46 HSPG2 LYVE1
4 basement membrane organization GO:0071711 9.37 FERMT1 NID1
5 embryonic eye morphogenesis GO:0048048 9.32 EFEMP1 FBN1
6 negative regulation of stem cell proliferation GO:2000647 9.26 FBLN1 FERMT1
7 post-embryonic eye morphogenesis GO:0048050 9.16 EFEMP1 FBN1
8 hemidesmosome assembly GO:0031581 9.13 DST KRT14 LAMC1
9 extracellular matrix organization GO:0030198 9.1 FBLN1 FBN1 HSPG2 LAMC1 MMP9 NID1

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

# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.46 DST ECM1 FBLN1 HSPG2
2 calcium ion binding GO:0005509 9.43 DST EFEMP1 FBLN1 FBN1 HSPG2 NID1
3 laminin binding GO:0043236 9.32 ECM1 NID1
4 mechanosensitive ion channel activity GO:0008381 9.26 TMC6 TMC8
5 extracellular matrix structural constituent GO:0005201 9.1 ECM1 EFEMP1 FBLN1 FBN1 LAMC1 NID1

Sources for Lipoid Proteinosis of Urbach and Wiethe

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
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