MCID: LPD016
MIFTS: 55

Lipoid Proteinosis of Urbach and Wiethe

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Metabolic 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
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 cleft lip/palate and cleft lip, and has symptoms including hoarseness, seizures 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 Phospholipase-C Pathway and MET promotes cell motility. The drugs Menthol 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

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.

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.

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.

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 431)
# Related Disease Score Top Affiliating Genes
1 cleft lip/palate 12.4
2 cleft lip 12.4
3 lip cancer 12.3
4 cleft lip/palate-ectodermal dysplasia syndrome 12.3
5 ankyloblepharon-ectodermal defects-cleft lip/palate 12.2
6 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 12.2
7 blepharochalasis and double lip 12.2
8 van der woude syndrome 1 12.1
9 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 12.1
10 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.1
11 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.1
12 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 12.0
13 lower lip cancer 12.0
14 lip, median nodule of upper 12.0
15 brachial amelia, cleft lip, and holoprosencephaly 12.0
16 isolated cleft lip 12.0
17 polydactyly cleft lip palate psychomotor retardation 12.0
18 cleft lip and alveolus 12.0
19 upper lip cancer 11.9
20 lower lip fistula 11.9
21 commissural lip fistula 11.9
22 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.9
23 uveal coloboma-cleft lip and palate-intellectual disability 11.9
24 microbrachycephaly ptosis cleft lip 11.9
25 lip and oral cavity cancer 11.9
26 lip carcinoma in situ 11.9
27 lip prints 11.8
28 median cleft lip/mandibule 11.8
29 commissural lip pits 11.8
30 maxillary double lip 11.8
31 popliteal pterygium syndrome 11.8
32 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 11.8
33 cleft lip/palate with abnormal thumbs and microcephaly 11.8
34 ectrodactyly and ectodermal dysplasia without cleft lip/palate 11.8
35 kniest-like dysplasia with pursed lips and ectopia lentis 11.8
36 cleft lip-retinopathy syndrome 11.8
37 lip, hamartomatous 11.7
38 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease 11.7
39 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome 11.7
40 fountain syndrome 11.7
41 phlebectasia of lips 11.7
42 radius, aplasia of, with cleft lip/palate 11.7
43 split lower lip 11.7
44 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate 11.7
45 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 11.7
46 cleft lip and palate malrotation cardiopathy 11.7
47 cleft lip and/or palate with mucous cysts of lower 11.7
48 cleft lip palate dysmorphism kumar type 11.7
49 cleft lip palate oligodontia syndactyly pili torti 11.7
50 cleft lip palate pituitary deficiency 11.7

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 31)
# 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 hoarse voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001609
13 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
14 nasal polyposis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100582
15 verrucae 59 32 frequent (33%) Frequent (79-30%) HP:0200043
16 abnormality of the gingiva 59 32 hallmark (90%) Very frequent (99-80%) HP:0000168
17 pustule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200039
18 scarring 59 32 hallmark (90%) Very frequent (99-80%) HP:0100699
19 microglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000171
20 tongue nodules 59 32 hallmark (90%) 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 59 Very frequent (99-80%)
25 aggressive behavior 32 HP:0000718
26 abnormality of oral mucosa 59 Very frequent (99-80%)
27 abnormality of the skin 32 HP:0000951
28 alopecia of scalp 32 frequent (33%) HP:0002293
29 scalp hair loss 59 Frequent (79-30%)
30 patchy alopecia 32 HP:0002232
31 bilateral intracranial calcifications 32 HP:0005671

UMLS symptoms related to Lipoid Proteinosis of Urbach and Wiethe:


hoarseness, seizures, 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 shRNA abundance (Z-score < -2) GR00366-A-109 9.36 EMC1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.36 EMC1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.36 ANTXR2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.36 ANTXR2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.36 ANTXR2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.36 ANTXR2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.36 ANTXR2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.36 EMC1 ANTXR2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.36 EMC1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.36 ANTXR2

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
Menthol Approved Not Applicable 2216-51-5 16666
2
Angiotensin II Approved, Investigational 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
3
Telmisartan Approved, Investigational 144701-48-4 65999
4
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
5 Analgesics Not Applicable
6 Anesthetics Not Applicable
7 Anesthetics, Local Not Applicable
8 Hypnotics and Sedatives Not Applicable
9 Angiotensin II Type 1 Receptor Blockers
10 Angiotensin Receptor Antagonists
11 Angiotensinogen
12 Antihypertensive Agents
13 Adjuvants, Anesthesia
14 Analgesics, Opioid
15 Anesthetics, General
16 Anesthetics, Intravenous
17 Central Nervous System Depressants
18 Narcotics
19 Peripheral Nervous System Agents

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 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 COPD Completed NCT01285180 Daxas
4 Quality of Life in Daxas-treated Patients Older Than 18 Years With Severe Chronic Obstructive Pulmonary Disease (COPD) (DACOTA) Completed NCT01285167 Daxas
5 Matrifen® for Therapy of Severe Chronic Pain® Completed NCT00699335 Fentanyl
6 Efficacy of Matrifen in Patients Older Than 18 Years With Severe, Chronic Pain Completed NCT00556270 Matrifen
7 Tele-CBT Following Bariatric Surgery: Randomized Control Trial Recruiting NCT03315247 Not Applicable
8 POEM for Spastic Esophageal Disorders Recruiting NCT02425033 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, Liver, Lymph Node

Publications for Lipoid Proteinosis of Urbach and Wiethe

Articles related to Lipoid Proteinosis of Urbach and Wiethe:

(show top 50) (show all 253)
# Title Authors Year
1
Lipoid proteinosis: A case with distinct histopathological and radiological findings. ( 28685839 )
2017
2
Lipoid proteinosis: A clinical and molecular study in Egyptian patients. ( 28720532 )
2017
3
Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis. ( 27241643 )
2016
4
Lipoid proteinosis of the larynx. ( 25738725 )
2015
5
Lipoid proteinosis or Urbach-Wiethe disease: Description of a new case with cerebral involvement. ( 26059804 )
2015
6
Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1. ( 25529926 )
2015
7
Lipoid proteinosis. ( 26564090 )
2015
8
Lipoid proteinosis: a rare encounter in dental office. ( 25874136 )
2015
9
Lipoid Proteinosis: a case report in two siblings. ( 25780975 )
2014
10
Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients. ( 24708644 )
2014
11
Identification of recurrent c.742G&amp;gt;T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis. ( 24413997 )
2014
12
Clinical and molecular study of the extracellular matrix protein 1 gene in a spanish family with lipoid proteinosis. ( 24465266 )
2014
13
Lipoid proteinosis in a Chinese patient. ( 24521736 )
2014
14
Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA. ( 25518807 )
2014
15
Lipoid proteinosis (Urbach-Wiethe disease) in two siblings. ( 25593816 )
2014
16
Lipoid proteinosis: rare case confirmed by ECM1 mutation detection. ( 25441608 )
2014
17
Two Egyptian cases of lipoid proteinosis successfully treated with acitretin. ( 24748909 )
2014
18
Gastrointestinal involvement in lipoid proteinosis: a ten-year follow-up of a brazilian female patient. ( 25045357 )
2014
19
Lipoid proteinosis: pathognomonic clinical and radiological features. ( 24722720 )
2014
20
N-Glycosylation of extracellular matrix protein 1 (ECM1) regulates its secretion, which is unrelated to lipoid proteinosis. ( 25379385 )
2014
21
Epidermodysplasia Verruciformis in Lipoid Proteinosis: Case Report and Discussion of Pathophysiology. ( 23534907 )
2013
22
Demographic, clinical, and radiologic signs and treatment responses of lipoid proteinosis patients: a 10-case series from A9anlA+urfa. ( 24320796 )
2013
23
Teaching NeuroImages: lipoid proteinosis (Urbach-Wiethe disease): typical findings in this rare genodermatosis. ( 23439709 )
2013
24
Papules, pock-like scars, and hoarseness of voice. Lipoid proteinosis. ( 23254755 )
2013
25
Oral manifestations of lipoid proteinosis: A case report and literature review. ( 23960561 )
2013
26
Keratoconus in a case of lipoid proteinosis. ( 23001020 )
2013
27
A novel splice-site ECM1 gene mutation in a Lebanese girl with lipoid proteinosis. ( 23789600 )
2013
28
Bilateral selective amygdala calcifications: lipoid proteinosis. ( 24224328 )
2013
29
Identification of a novel splicing mutation of ECM1 in a rare lipoid proteinosis family. ( 23682690 )
2013
30
Lipoid proteinosis with bilateral amygdalae calcifications, headache, and cognitive impairments. ( 23858412 )
2013
31
Lipoid proteinosis: Histopathological characterization of early papulovesicular lesions. ( 23130294 )
2012
32
Prominent corneal nerves: a novel sign of lipoid proteinosis. ( 22581399 )
2012
33
Lipoid proteinosis: a rare clinical entity. ( 23032850 )
2012
34
Lipoid proteinosis presenting with an unusual nonsense Q32X mutation in exon 2 of the extracellular matrix protein 1 gene. ( 23157792 )
2012
35
A novel association of the additional intracranial calcification in lipoid proteinosis: a case report. ( 23285466 )
2012
36
Lipoid proteinosis in the eastern Mediterranean region of Turkey. ( 22565431 )
2012
37
Urbach-Wiethe disease (lipoid proteinosis). ( 23032836 )
2012
38
Acitretin treatment for lipoid proteinosis. ( 23259080 )
2012
39
A novel missense mutation in exon 7 of the ECM1 gene in an Iranian lipoid proteinosis patient. ( 23212332 )
2012
40
A novel missense mutation of the ECM1 gene in a Chinese patient with lipoid proteinosis. ( 22182433 )
2012
41
Lipoid proteinosis in a six-year-old child. ( 23130256 )
2012
42
Widespread papules and indurated plaques on a 43-year-old man. Lipoid proteinosis (LiP). ( 21768489 )
2011
43
Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family. ( 21791056 )
2011
44
Molecular and neurological characterizations of three Saudi families with lipoid proteinosis. ( 21349189 )
2011
45
Marathon of eponyms: 21 Urbach-Wiethe disease (Lipoid proteinosis). ( 21902768 )
2011
46
Clinical and histopathological response to acitretin therapy in lipoid proteinosis. ( 20666665 )
2011
47
Oral findings in a child with lipoid proteinosis: a case report and review. ( 21521922 )
2011
48
Lipoid proteinosis in two families. ( 21781070 )
2011
49
Lipoid Proteinosis in two Iranian Sisters: A Case Report and Review of Literature. ( 22737480 )
2011
50
Eyelid lesions in lipoid proteinosis or Urbach-Wiethe disease: case report and review of the literature. ( 21957955 )
2011

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.658T> G (p.Cys220Gly) single nucleotide variant Pathogenic rs869025566 GRCh38 Chromosome 1, 150511148: 150511148
12 ECM1 NM_004425.3(ECM1): c.658T> G (p.Cys220Gly) single nucleotide variant Pathogenic rs869025566 GRCh37 Chromosome 1, 150483624: 150483624
13 ECM1 NM_004425.3(ECM1): c.506dupC (p.Gly170Trpfs) duplication Pathogenic rs869025564 GRCh38 Chromosome 1, 150510996: 150510996
14 ECM1 NM_004425.3(ECM1): c.506dupC (p.Gly170Trpfs) duplication Pathogenic rs869025564 GRCh37 Chromosome 1, 150483472: 150483472
15 ECM1 NM_004425.3(ECM1): c.507delT (p.Arg171Glyfs) deletion Pathogenic rs869025565 GRCh38 Chromosome 1, 150510997: 150510997
16 ECM1 NM_004425.3(ECM1): c.507delT (p.Arg171Glyfs) deletion Pathogenic rs869025565 GRCh37 Chromosome 1, 150483473: 150483473
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

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

# 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 Lipoid Proteinosis of Urbach and Wiethe

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

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

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 8.8 ECM1 HRAS HSPG2

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
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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