LIP
MCID: LPD016
MIFTS: 52

Lipoid Proteinosis of Urbach and Wiethe (LIP)

Categories: Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
Data Licensing
For inquiries, contact:

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 19 42 75 73 43 71
Lipoid Proteinosis 57 11 24 42 52 58 73 12 14
Urbach-Wiethe Disease 57 11 24 42 58 75 38
Hyalinosis Cutis Et Mucosae 57 24 19 42 58 73
Lipid Proteinosis 11 42 28 5
Lipoproteinosis 19 42
Urbach-Wiethe Lipoid Proteinosis 42
Lipoidosis Cutis Et Mucosae 42
Urbach-Wiethe Syndrome 42
Urbach Wiethe Disease 19
Lipoglycoproteinosis 42
Proteinosis Lipoid 53
Lipoidproteinosis 42
Lip 73

Characteristics:


Inheritance:

Lipoid Proteinosis of Urbach and Wiethe: Autosomal recessive 57
Lipoid Proteinosis: Autosomal recessive 58

Age Of Onset:

Lipoid Proteinosis: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in childhood
neuropsychiatric manifestations are variable


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Lipoid Proteinosis of Urbach and Wiethe

MedlinePlus Genetics: 42 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.The first symptom of this condition is usually a hoarse voice, which is due to deposits in the vocal cords. In infancy the hoarseness is expressed as a weak cry. The voice abnormalities persist throughout life and can ultimately cause difficulty speaking or complete loss of speech. Involvement of the throat, tonsils, and lips can result in breathing problems and upper respiratory tract infections. Deposits in the tongue can result in a thick and shortened tongue. They can also thicken the band of tissue that connects the tongue to the bottom of the mouth (frenulum), making it difficult to extend the tongue. The tongue may also have a smooth appearance due to damage to the taste buds.A characteristic feature of lipoid proteinosis is the presence of multiple tiny, bead-like bumps lining the upper and lower eyelids along the lash line. These bumps are known as moniliform blepharosis. They may cause eyeball irritation or itching but generally do not impair vision.The skin and mucous membranes are often fragile in children with lipoid proteinosis, leading to bleeding and scabbing following minor trauma. These problems often first appear in infancy in the mouth and on the face and limbs. Over time, these scabs form blisters and scars. Deposits accumulate in the skin, which causes the skin to become thickened and yellowish in color. Skin damage appears more frequently on areas that experience friction, such as the hands, elbows, knees, buttocks, and armpits. Some people with this condition have hair loss (alopecia) affecting their scalp, eyelashes, and eyebrows.Neurologic features are also common in people with lipoid proteinosis. Affected individuals may have recurrent seizures (epilepsy) or behavioral and neurological problems, which can include headaches, aggressive behaviors, paranoia, hallucinations, short-term memory loss, and absence of fear. These features are thought to be associated with the presence of deposits and an accumulation of calcium (calcification) in areas of the brain called the temporal lobes. The temporal lobes help process hearing, speech, memory, and emotion. The brain abnormalities and neurological features do not always occur together, so the cause of the neurological features is still unclear.Deposits can be found in some internal organs, including the stomach, a section of the small intestine called the duodenum, and the colon. The deposits in these tissues often do not cause any symptoms and may disappear over time.

MalaCards based summary: Lipoid Proteinosis of Urbach and Wiethe, also known as lipoid proteinosis, is related to postpartum depression and prosopagnosia, 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 is Vasopressin-like receptors. Affiliated tissues include skin, temporal lobe and tongue, and related phenotypes are thick lower lip vermilion and acne

NINDS: 52 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.

GARD: 19 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. 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 in the ECM1 gene and is inherited in an autosomal recessive manner.

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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.

Wikipedia: 75 Urbach-Wiethe disease is a very rare recessive genetic disorder, with approximately 400 reported cases... 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 1938)
# Related Disease Score Top Affiliating Genes
1 postpartum depression 29.4 OXTR OXT
2 prosopagnosia 29.1 OXTR OXT
3 alexithymia 29.0 OXTR OXT
4 social phobia 28.9 OXTR OXT
5 cleft lip 11.9
6 cleft lip/palate 11.8
7 lip cancer 11.7
8 ankyloblepharon-ectodermal defects-cleft lip/palate 11.7
9 van der woude syndrome 11.6
10 cleft lip/palate-ectodermal dysplasia syndrome 11.6
11 blepharocheilodontic syndrome 1 11.5
12 popliteal pterygium syndrome 11.5
13 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 11.5
14 branchiooculofacial syndrome 11.5
15 cleft lip with or without cleft palate 11.5
16 van der woude syndrome 1 11.5
17 orofacial cleft 11 11.5
18 uveal coloboma-cleft lip and palate-intellectual disability 11.5
19 blepharochalasis and double lip 11.5
20 hartsfield syndrome 11.5
21 cleft palate, isolated 11.5
22 squamous cell carcinoma, head and neck 11.4
23 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.4
24 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.4
25 juberg-hayward syndrome 11.4
26 brachial amelia, cleft lip, and holoprosencephaly 11.4
27 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 11.4
28 orofaciodigital syndrome v 11.4
29 roberts-sc phocomelia syndrome 11.4
30 lymphoid interstitial pneumonia 11.3
31 cleft palate, cardiac defects, and mental retardation 11.3
32 lip, median nodule of upper 11.3
33 orofacial cleft 8 11.3
34 orofacial cleft 1 11.3
35 orofacial cleft 6 11.3
36 lip and oral cavity cancer 11.3
37 vici syndrome 11.3
38 orofaciodigital syndrome vi 11.3
39 cleft lip and alveolus 11.3
40 orofacial cleft 5 11.3
41 orofacial cleft 10 11.3
42 rapp-hodgkin syndrome 11.3
43 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development 11.3
44 microbrachycephaly ptosis cleft lip 11.3
45 bustos simosa pinto cisternas syndrome 11.3
46 isolated cleft lip 11.3
47 pyramidal molars-abnormal upper lip syndrome 11.2
48 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 11.2
49 acrofrontofacionasal dysostosis 11.2
50 cleft lip-retinopathy syndrome 11.2

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:

58 30 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thick lower lip vermilion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000179
2 acne 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001061
3 subcutaneous nodule 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001482
4 hoarse voice 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001609
5 papule 58 30 Very rare (1%) Very frequent (99-80%)
HP:0200034
6 abnormal blistering of the skin 58 30 Very rare (1%) Very frequent (99-80%)
HP:0008066
7 pustule 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200039
8 tongue nodules 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000199
9 abnormality of the gingiva 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000168
10 scarring 58 30 Very rare (1%) Very frequent (99-80%)
HP:0100699
11 dysphagia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002015
12 high palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000218
13 recurrent respiratory infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002205
14 hyperkeratosis 58 30 Very rare (1%) Frequent (79-30%)
HP:0000962
15 dystonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001332
16 verrucae 58 30 Frequent (33%) Frequent (79-30%)
HP:0200043
17 microglossia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000171
18 alopecia of scalp 30 Frequent (33%) HP:0002293
19 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
20 cerebral calcification 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002514
21 nasal polyposis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100582
22 skin erosion 30 Very rare (1%) HP:0200041
23 skin plaque 30 Very rare (1%) HP:0200035
24 generalized non-motor (absence) seizure 30 Very rare (1%) HP:0002121
25 temporal lobe calcification 30 Very rare (1%) HP:0034293
26 hallucinations 30 HP:0000738
27 memory impairment 30 HP:0002354
28 abnormal oral mucosa morphology 58 Very frequent (99-80%)
29 thickened skin 58 Very frequent (99-80%)
30 aggressive behavior 30 HP:0000718
31 patchy alopecia 30 HP:0002232
32 scalp hair loss 58 Frequent (79-30%)
33 paranoia 30 HP:0011999
34 bilateral intracerebral calcifications 30 HP:0005671

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Behavioral Psychiatric Manifestations:
hallucinations
aggressive behavior
paranoia
executive dysfunction
absence of fear

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

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 (Updated 08-Dec-2022)

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Strongly decreased CFP-tsO45G cell surface transport GR00360-A-1 9.02 DST MINPP1 OXTR
2 Strongly decreased CFP-tsO45G cell surface transport GR00360-A-2 9.02 DST OXTR

Drugs & Therapeutics for Lipoid Proteinosis of Urbach and Wiethe

Search Clinical Trials, 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 28 ECM1

Anatomical Context for Lipoid Proteinosis of Urbach and Wiethe

Organs/tissues related to Lipoid Proteinosis of Urbach and Wiethe:

MalaCards : Skin, Temporal Lobe, Tongue, Amygdala, Brain, Small Intestine, Colon

Publications for Lipoid Proteinosis of Urbach and Wiethe

Articles related to Lipoid Proteinosis of Urbach and Wiethe:

(show top 50) (show all 639)
# Title Authors PMID Year
1
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. 53 62 24 57 5
12603844 2003
2
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). 53 62 24 57 5
11929856 2002
3
Lipoid proteinosis: A clinical and molecular study in Egyptian patients. 62 5
28720532 2017
4
Amygdalae and striatum calcification in lipoid proteinosis. 53 62 24
19696137 2010
5
A novel homozygous 62-bp insertion in ECM1 causes lipoid proteinosis in a multigeneration Pakistani family. 53 62 24
19519837 2009
6
Novel human pathological mutations. Gene symbol: ECM1. Disease: Lipoid Proteinosis. 53 62 24
19694009 2009
7
The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. 53 62 24
17927570 2007
8
Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions. 53 62 24
16512877 2006
9
Rapid diagnosis of lipoid proteinosis using an anti-extracellular matrix protein 1 (ECM1) antibody. 53 62 24
15265527 2004
10
The role of extracellular matrix protein 1 in human skin. 53 62 24
14723723 2004
11
Lipoid proteinosis. 53 62 24
12472532 2002
12
The estimation of selection coefficients in Afrikaners: Huntington disease, porphyria variegata, and lipoid proteinosis. 62 57
2137963 1990
13
Neuropsychological correlates of bilateral amygdala damage. 62 57
2310319 1990
14
Lipoid proteinosis presenting with neuropsychiatric manifestations. 62 57
4087005 1985
15
Hyalinosis cutis et mucosae in siblings. 62 57
6210239 1984
16
Hyalinosis cutis et mucosae. Defective digestion and storage of basal lamina glycoprotein synthesized by smooth muscle cells. 62 57
7117652 1982
17
Lipoid proteinosis: in vivo and in vitro evidence for a lysosomal storage disease. 62 57
7462673 1981
18
Urbach-Wiethe disease. Light and electron microscopic study. 62 57
7358884 1980
19
Lipoid proteinosis (Urbach-Wiethe syndrome). 62 57
508682 1979
20
Lipoid proteinosis; a clinical, pathological and genetic study. 62 57
751090 1978
21
A case of hyalinosis cutis et mucosae (lipoid proteinosis of Urbach and Wiethe) with common ancestors in four remote generations. 62 57
47394 1975
22
Neurologic involvement in Urbach-Wiethe's disease (lipoid proteinosis). A clinical, ultrastructural, and chemical study. 62 57
5002423 1971
23
Genealogy of lipoid proteinosis. 62 57
4183275 1969
24
Lipoid proteinosis in an inbred Namaqualand community. 62 57
4181261 1969
25
Lipoid proteinosis: case report of direct lineal transmission. 62 57
6072986 1967
26
Hyalinosis cutis et mucosae (lipoid proteinosis). Demonstration of a new disorder of mucopolysaccharide metabolism. 62 57
4224825 1966
27
LIPIDPROTEINOSIS (URBACH-WIETHE SYNDROME). 62 57
14188328 1963
28
Lipid proteinosis. 62 57
14017139 1963
29
Lipoid proteinosis: a review including some new observations. 62 57
14018417 1962
30
Lipid-Proteinosis (Urbach-Wiethe) Involving the Lids. 62 57
16693594 1960
31
Intracranial calcifications associated with epilepsy: A case report of lipoid proteinosis. 62 24
33161246 2020
32
Moniliform Blepharosis of Lipoid Proteinosis. 62 24
26158437 2015
33
Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA. 62 24
25518807 2015
34
Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1. 62 24
25529926 2015
35
Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients. 62 24
24708644 2014
36
Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistani families suffering from lipoid proteinosis. 62 24
24413997 2014
37
Gastrointestinal involvement in lipoid proteinosis: a ten-year follow-up of a brazilian female patient. 62 24
25045357 2014
38
Spontaneous intracerebral hemorrhage in Urbach-Wiethe disease. 62 24
23628933 2013
39
Oral manifestations of lipoid proteinosis: A case report and literature review. 62 24
23960561 2013
40
Spontaneous intracerebral hemorrhage in Urbach-Wiethe disease. 62 24
23035073 2012
41
Should we think of Urbach-Wiethe disease in refractory epilepsy? Case report and review of the literature. 62 24
22795383 2012
42
The human amygdala and the induction and experience of fear. 57
21167712 2011
43
The neuropsychiatry and neuropsychology of lipoid proteinosis. 62 24
18305289 2008
44
Epilepsy and migraine in a patient with Urbach-Wiethe disease. 62 24
17403608 2007
45
Altered experience of emotion following bilateral amygdala damage. 57
17354069 2006
46
Extracellular matrix protein 1 interacts with the domain III of fibulin-1C and 1D variants through its central tandem repeat 2. 62 24
15990087 2005
47
Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. 62 24
15327549 2004
48
Amygdala, affect and cognition: evidence from 10 patients with Urbach-Wiethe disease. 62 24
12937075 2003
49
Impaired recognition of emotion in facial expressions following bilateral damage to the human amygdala. 57
7990957 1994
50
Lipoid proteinosis of the small bowel. 62 24
7514865 1994

Variations for Lipoid Proteinosis of Urbach and Wiethe

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

5 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ECM1 NM_004425.4(ECM1):c.806G>A (p.Cys269Tyr) SNV Pathogenic
1192520 GRCh37: 1:150484030-150484030
GRCh38: 1:150511554-150511554
2 ECM1 NM_004425.4(ECM1):c.1393-1G>T SNV Pathogenic
587581 rs1560267428 GRCh37: 1:150485712-150485712
GRCh38: 1:150513236-150513236
3 ECM1 NM_004425.4(ECM1):c.1209_1210insTAGGAAGCCAATTGATATCATAGCTCAGACCATACCTATGTATCCAAATGGTTCTTTTTTTCC (p.Asn404Ter) INSERT Pathogenic
1687218 GRCh37: 1:150484951-150484952
GRCh38: 1:150512475-150512476
4 ECM1 NM_004425.4(ECM1):c.507del (p.Arg171fs) DEL Pathogenic
222947 rs869025565 GRCh37: 1:150483473-150483473
GRCh38: 1:150510997-150510997
5 ECM1 NM_004425.4(ECM1):c.157C>T (p.Arg53Ter) SNV Pathogenic
7475 rs121909115 GRCh37: 1:150482172-150482172
GRCh38: 1:150509696-150509696
6 ECM1 NM_004425.4(ECM1):c.1304+35_*302del DEL Pathogenic
7473 GRCh37: 1:150485082-150486244
GRCh38: 1:150512606-150513768
7 ECM1 NM_004425.4(ECM1):c.480G>A (p.Trp160Ter) SNV Pathogenic
7477 rs1560265435 GRCh37: 1:150483446-150483446
GRCh38: 1:150510970-150510970
8 ECM1 NM_004425.4(ECM1):c.499T>A (p.Phe167Ile) SNV Pathogenic
7476 rs121909116 GRCh37: 1:150483465-150483465
GRCh38: 1:150510989-150510989
9 ECM1 NM_004425.4(ECM1):c.1036C>T (p.Gln346Ter) SNV Pathogenic
7472 rs121909114 GRCh37: 1:150484260-150484260
GRCh38: 1:150511784-150511784
10 ECM1 NM_004425.4(ECM1):c.785del (p.Gln262fs) DEL Pathogenic
1322815 GRCh37: 1:150484009-150484009
GRCh38: 1:150511533-150511533
11 ECM1 NM_004425.4(ECM1):c.1287_1288del (p.Arg430fs) DEL Pathogenic
1526253 GRCh37: 1:150485030-150485031
GRCh38: 1:150512554-150512555
12 ECM1 NM_004425.4(ECM1):c.1019del (p.Gln340fs) DEL Pathogenic/Likely Pathogenic
7471 rs778473713 GRCh37: 1:150484243-150484243
GRCh38: 1:150511767-150511767
13 ECM1 NM_004425.4(ECM1):c.142del (p.Ser48fs) DEL Likely Pathogenic
930258 rs1670380730 GRCh37: 1:150482157-150482157
GRCh38: 1:150509681-150509681
14 ECM1 NM_004425.4(ECM1):c.233del (p.Pro78fs) DEL Likely Pathogenic
1034085 rs768474010 GRCh37: 1:150482403-150482403
GRCh38: 1:150509927-150509927
15 ECM1 NM_004425.4(ECM1):c.223+1G>A SNV Likely Pathogenic
1324315 GRCh37: 1:150482239-150482239
GRCh38: 1:150509763-150509763
16 ECM1 NM_004425.4(ECM1):c.122-3T>G SNV Uncertain Significance
1030795 rs375534923 GRCh37: 1:150482134-150482134
GRCh38: 1:150509658-150509658
17 ECM1 NM_004425.4(ECM1):c.389C>T (p.Thr130Met) SNV Benign
1222321 GRCh37: 1:150483355-150483355
GRCh38: 1:150510879-150510879
18 ECM1 NM_004425.4(ECM1):c.1243G>A (p.Gly415Ser) SNV Benign
1255367 GRCh37: 1:150484987-150484987
GRCh38: 1:150512511-150512511
19 ECM1 NM_004425.4(ECM1):c.506dup (p.Gly170fs) DUP Not Provided
222945 rs869025564 GRCh37: 1:150483466-150483467
GRCh38: 1:150510990-150510991
20 ECM1 NM_004425.4(ECM1):c.93_94delinsTT (p.Arg31_Gln32delinsSerTer) INDEL Not Provided
222949 rs869025567 GRCh37: 1:150482029-150482030
GRCh38: 1:150509553-150509554
21 ECM1 NM_004425.4(ECM1):c.742G>T (p.Glu248Ter) SNV Not Provided
1184441 GRCh37: 1:150483966-150483966
GRCh38: 1:150511490-150511490
22 ECM1 NM_004425.4(ECM1):c.826C>T (p.Gln276Ter) SNV Not Provided
222944 rs869025563 GRCh37: 1:150484050-150484050
GRCh38: 1:150511574-150511574
23 ECM1 NM_004425.4(ECM1):c.658T>G (p.Cys220Gly) SNV Not Provided
222948 rs869025566 GRCh37: 1:150483624-150483624
GRCh38: 1:150511148-150511148
24 ECM1 NM_004425.4(ECM1):c.727C>T (p.Arg243Ter) SNV Not Provided
222946 rs746217361 GRCh37: 1:150483951-150483951
GRCh38: 1:150511475-150511475

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

73
# Symbol AA change Variation ID SNP ID
1 ECM1 p.Phe167Ile VAR_018691 rs121909116

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
9.66 OXTR OXT

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 eating behavior GO:0042755 9.8 OXTR OXT
2 positive regulation of blood pressure GO:0045777 9.76 OXTR OXT
3 maternal behavior GO:0042711 9.73 OXTR OXT
4 sleep GO:0030431 9.71 OXTR OXT
5 positive regulation of uterine smooth muscle contraction GO:0070474 9.67 OXTR OXT
6 sperm ejaculation GO:0042713 9.62 OXTR OXT
7 negative regulation of gastric acid secretion GO:0060455 9.56 OXTR OXT
8 response to steroid hormone GO:0048545 9.48 OXTR OXT
9 positive regulation of penile erection GO:0060406 9.46 OXTR OXT
10 positive regulation of norepinephrine secretion GO:0010701 9.26 OXTR OXT
11 regulation of digestive system process GO:0044058 8.62 OXTR OXT

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 9.23 HSPG2 ECM1 DST CEP120

Sources for Lipoid Proteinosis of Urbach and Wiethe

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....