LSDMCA1
MCID: LNR013
MIFTS: 58

Linear Skin Defects with Multiple Congenital Anomalies 1 (LSDMCA1)

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Linear Skin Defects with Multiple Congenital Anomalies 1

MalaCards integrated aliases for Linear Skin Defects with Multiple Congenital Anomalies 1:

Name: Linear Skin Defects with Multiple Congenital Anomalies 1 57 11 19 73 28 5 14 38
Midas Syndrome 57 11 19 42 58 75 73
Mls Syndrome 11 24 19 42 58 14
Mcops7 57 11 19 42 58 73
Microphthalmia, Syndromic 7 57 42 12 43 71
Microphthalmia with Linear Skin Defects Syndrome 24 19 42 58
Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome 11 19 58
Microphthalmia with Linear Skin Defects 57 19 73
Syndromic Microphthalmia Type 7 11 19 58
Microphthalmia, Dermal Aplasia, and Sclerocornea 57 42
Lsdmca1 57 73
Mls 57 73
Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome 24
Microphthalmia Dermal Aplasia and Sclerocornea Syndrome 19
Linear Skin Defects with Multiple Congenital Anomalies 11
Microphthalmia with Linear Skin Lesions Syndrome 42
Microphthalmia with Linear Skin Defect Syndrome 11
Microphthalmia, Dermal Aplasia and Sclerocornea 73
Microphthalmia, Syndromic, 7 73
Syndromic Microphthalmia 7 11
Microphthalmia Syndromic 7 42
Syndromic Microphthalmia-7 42
Micropthalmia Syndromic 7 19
Midas 16

Characteristics:


Inheritance:

Linear Skin Defects with Multiple Congenital Anomalies 1: X-linked dominant 57
Microphthalmia with Linear Skin Defects Syndrome: X-linked dominant 58

Prevelance:

Microphthalmia with Linear Skin Defects Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Microphthalmia with Linear Skin Defects Syndrome: Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
the acronym midas is microphthalmia, dermal aplasia, sclerocornea


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Linear Skin Defects with Multiple Congenital Anomalies 1

MedlinePlus Genetics: 42 Microphthalmia with linear skin defects syndrome is a disorder that mainly affects females. In people with this condition, one or both eyes may be very small or poorly developed (microphthalmia). Affected individuals also typically have unusual linear skin markings on the head and neck. These markings follow the paths along which cells migrate as the skin develops before birth (lines of Blaschko). The skin defects generally improve over time and leave variable degrees of scarring.The signs and symptoms of microphthalmia with linear skin defects syndrome vary widely, even among affected individuals within the same family. In addition to the characteristic eye problems and skin markings, this condition can cause abnormalities in the brain, heart, and genitourinary system. A hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), which is called a diaphragmatic hernia, may occur in people with this disorder. Affected individuals may also have short stature and fingernails and toenails that do not grow normally (nail dystrophy).

MalaCards based summary: Linear Skin Defects with Multiple Congenital Anomalies 1, also known as midas syndrome, is related to linear skin defects with multiple congenital anomalies 2 and microphthalmia. An important gene associated with Linear Skin Defects with Multiple Congenital Anomalies 1 is HCCS (Holocytochrome C Synthase), and among its related pathways/superpathways is Peroxisomal lipid metabolism. The drugs Zolmitriptan and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and heart, and related phenotypes are anophthalmia and microphthalmia

GARD: 19 Microphthalmia with linear skin defects syndrome (MLS syndrome) is a genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a genetic change in the HCCS gene. In some cases, it may be caused by genetic changes in the COX7B and NDUFB11 genes, (also located on the X chromosome). This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.

UniProtKB/Swiss-Prot: 73 A disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA1 main features are unilateral or bilateral microphthalmia, linear skin defects in affected females, and in utero lethality for males. Skin defects are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas. Additional features in female patients include agenesis of the corpus callosum, sclerocornea, chorioretinal abnormalities, infantile seizures, congenital heart defect, intellectual disability, and diaphragmatic hernia. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.

Disease Ontology 11 Linear skin defects with multiple congenital anomalies 1: A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has material basis in heterozygous or hemizygous mutation in HCCS on chromosome Xp22.2.

Mls syndrome: A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities.

OMIM®: 57 The microphthalmia with linear skin defects syndrome (MLS) is an X-linked dominant disorder characterized by unilateral or bilateral microphthalmia and linear skin defects--which are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas--in affected females and in utero lethality for males (Wimplinger et al., 2006). (309801) (Updated 08-Dec-2022)

Orphanet: 58 A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy.

Wikipedia: 75 Microphthalmia-dermal aplasia-sclerocornea syndrome is a condition characterized by linear skin lesions.... more...

GeneReviews: NBK7041

Related Diseases for Linear Skin Defects with Multiple Congenital Anomalies 1

Diseases in the Linear Skin Defects with Multiple Congenital Anomalies 1 family:

Linear Skin Defects with Multiple Congenital Anomalies 2 Linear Skin Defects with Multiple Congenital Anomalies 3

Diseases related to Linear Skin Defects with Multiple Congenital Anomalies 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 209)
# Related Disease Score Top Affiliating Genes
1 linear skin defects with multiple congenital anomalies 2 33.5 HCCS COX7B
2 microphthalmia 31.3 PORCN HCCS FOXE3 ERCC6 ARHGAP6
3 sclerocornea 31.0 NDUFB11 HCCS FOXE3 COX7B ARHGAP6
4 linear skin defects with multiple congenital anomalies 3 30.6 NDUFB11 HCCS COX7B ARHGAP6
5 congenital aphakia 30.6 HCCS FOXE3
6 diaphragmatic hernia, congenital 30.5 PORCN HCCS DISP1
7 amelogenesis imperfecta, type ie 30.3 ARHGAP6 AMELX
8 mcleod syndrome 11.4
9 mucolipidoses 11.1
10 migraine with or without aura 1 10.5
11 corpus callosum, agenesis of 10.5
12 headache 10.4
13 cardiomyopathy, infantile histiocytoid 10.4
14 fryns microphthalmia syndrome 10.4
15 focal dermal hypoplasia 10.4
16 atherosclerosis susceptibility 10.3
17 albinism, ocular, type i 10.3
18 ocular albinism 10.3
19 anencephaly 10.3
20 albinism 10.3
21 glaucoma 3, primary congenital, a 10.3
22 ventricular fibrillation, paroxysmal familial, 1 10.3
23 intraocular pressure quantitative trait locus 10.3
24 blepharophimosis 10.3
25 47 xxx syndrome 10.3
26 posttransplant acute limbic encephalitis 10.3
27 isolated microphthalmia 10.2 HCCS FOXE3
28 hypotonia 10.2
29 bjornstad syndrome 10.2 HCCS COX7B
30 spinal stenosis 10.1
31 diaphragmatic eventration 10.1 PORCN DISP1
32 autism 10.1
33 peters-plus syndrome 10.1
34 aicardi syndrome 10.1
35 retinitis pigmentosa 11 10.1
36 malaria, mild 10.1
37 exanthem 10.1
38 autism spectrum disorder 10.1
39 ptosis 10.1
40 hypospadias 10.1
41 microcephaly 10.1
42 hydrocephalus 10.1
43 ventricular septal defect 10.1
44 hypogonadism 10.1
45 amelogenesis imperfecta 10.1
46 cystic lymphangioma 10.1
47 turner syndrome 10.1
48 lactic acidosis 10.1
49 cataract 10.1
50 mitochondrial disease 10.1

Graphical network of the top 20 diseases related to Linear Skin Defects with Multiple Congenital Anomalies 1:



Diseases related to Linear Skin Defects with Multiple Congenital Anomalies 1

Symptoms & Phenotypes for Linear Skin Defects with Multiple Congenital Anomalies 1

Human phenotypes related to Linear Skin Defects with Multiple Congenital Anomalies 1:

58 30 (show top 50) (show all 103)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anophthalmia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000528
2 microphthalmia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000568
3 sclerocornea 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000647
4 congenital diaphragmatic hernia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000776
5 erythema 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010783
6 midface retrusion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011800
7 dermal atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004334
8 hyperpigmentation of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000953
9 wide nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000431
10 abnormal facial shape 58 30 Frequent (33%) Frequent (79-30%)
HP:0001999
11 abnormality of retinal pigmentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0007703
12 retrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000278
13 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000347
14 hypertrophic cardiomyopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001639
15 abnormal eyelash morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0000499
16 dilated cardiomyopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001644
17 arrhythmia 58 30 Frequent (33%) Frequent (79-30%)
HP:0011675
18 abnormal cardiac septum morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0001671
19 hypopigmented skin patches 58 30 Frequent (33%) Frequent (79-30%)
HP:0001053
20 wide nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0000445
21 severe short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0003510
22 mandibular aplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0009939
23 abnormal nasolacrimal system morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0000614
24 vitritis 58 30 Frequent (33%) Frequent (79-30%)
HP:0011531
25 intellectual disability 58 30 Very rare (1%) Occasional (29-5%)
HP:0001249
26 agenesis of corpus callosum 58 30 Very rare (1%) Occasional (29-5%)
HP:0001274
27 failure to thrive 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001508
28 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
29 hearing impairment 58 30 Very rare (1%) Occasional (29-5%)
HP:0000365
30 global developmental delay 58 30 Very rare (1%) Occasional (29-5%)
HP:0001263
31 microcephaly 58 30 Very rare (1%) Occasional (29-5%)
HP:0000252
32 blindness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000618
33 abnormality of the nail 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001597
34 specific learning disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001328
35 mitral valve prolapse 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001634
36 mitral regurgitation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001653
37 glaucoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000501
38 abnormal testis morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000035
39 amblyopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000646
40 chorioretinal dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007731
41 posterior embryotoxon 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000627
42 hypospadias 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000047
43 sacral dimple 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000960
44 absent septum pellucidum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001331
45 male pseudohermaphroditism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000037
46 ambiguous genitalia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000062
47 respiratory failure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002878
48 epispadias 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000039
49 feeding difficulties 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011968
50 status epilepticus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002133

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
agenesis of corpus callosum
hydrocephalus
colpocephaly
absence of septum pellucidum
mild to severe mental retardation (24%)
more
Cardiovascular Heart:
atrial septal defect
ventricular septal defect
cardiac conduction defects
oncocytic cardiomyopathy

Genitourinary External Genitalia Male:
hypospadias
chordee
small penis

Abdomen Gastrointestinal:
anteriorly placed anus
imperforate anus

Head And Neck Ears:
hearing loss

Genitourinary External Genitalia Female:
hypertrophic clitoris

Skin Nails Hair Skin:
asymmetric, linear skin defects (anterior face and neck)

Head And Neck Head:
microcephaly

Head And Neck Eyes:
iris coloboma
microphthalmia
sclerocornea
pigmentary retinopathy
cataracts

Cardiovascular Vascular:
overriding aorta

Genitourinary Internal Genitalia Female:
ovotestis
hypoplastic uterus

Chest Diaphragm:
diaphragmatic hernia

Growth Height:
short stature (3rd-10th percentile)

Laboratory Abnormalities:
distal xp22.3 segmental monosomy

Clinical features from OMIM®:

309801 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Linear Skin Defects with Multiple Congenital Anomalies 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.47 AMELX ARHGAP6 CHST14 DISP1 DSE ERCC6

Drugs & Therapeutics for Linear Skin Defects with Multiple Congenital Anomalies 1

Drugs for Linear Skin Defects with Multiple Congenital Anomalies 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zolmitriptan Approved, Investigational Phase 4 139264-17-8 60857
2 Neurotransmitter Agents Phase 4
3 Serotonin Receptor Agonists Phase 4
4 Serotonin 5-HT1 Receptor Agonists Phase 4
5
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
6
Erenumab Approved, Investigational 1582205-90-0
7
Salmon calcitonin Approved, Investigational 47931-85-1 155817456
8
Everolimus Approved 159351-69-6 70789204 6442177
9
Sirolimus Approved, Investigational 53123-88-9 5284616 6436030
10
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
11
Clotrimazole Approved, Vet_approved 23593-75-1 2812
12
Calcitonin gene-related peptide Investigational 83652-28-2 91976570
13 Immunoglobulins
14
Calcitonin
15 Antibodies, Monoclonal
16 Antibodies
17 Analgesics
18 Katacalcin 16172926
19 Anti-Bacterial Agents
20 Anti-Infective Agents
21 Antifungal Agents
22 Antibiotics, Antitubercular
23 Immunosuppressive Agents
24 Immunologic Factors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multicenter, Open-Label Study Using the MIDAS Questionnaire to Assess the Effect of Using the HCPC Guidelines for Migraine Management in Primary Care, Including the Use of Zomig-ZMT (Zolmitriptan) Orally Disintegrating Tablets 5.0mg and Zomig Nasal Spray 5.0mg as Indicated. Completed NCT00637286 Phase 4 Zolmitriptan
2 MiDAS I (Mild® Decompression Alternative to Open Surgery): Vertos Mild Patient Evaluation Study Completed NCT00956631 Phase 4
3 MiDAS II (Mild® Decompression Alternative to Open Surgery): Vertos Mild Patient Evaluation Study Completed NCT01082159 Phase 4
4 Myeloperoxidase and Multi-Markers In the Diagnosis of Diagnoses of Acute Coronary Syndrome (MIDAS) - Sample Procurement Completed NCT00415948
5 MIDAS: Minimal-dataset for the Assessment of Surgical Outcomes - Potential in Hip Surgery (ch18Jakob3) Completed NCT03527407
6 MiDAS III (Mild® Decompression Alternative to Open Surgery): Vertos Mild Patient Evaluation Study Completed NCT01315145 Epidural Steroid Injection
7 Study of Early MIDAS Reduction at 3 Months as Predictor of Long-term Erenumab Treatment in Chronic Migraine: a Real-life, Open-label, Trial Completed NCT05442008 Erenumab 70/140 mg s.c.
8 Maintaining Implementation Through Dynamic Adaptations (MIDAS) (QUE 20-025) Recruiting NCT05065502
9 Multicenter International Durability and Safety of Sirolimus in LAM Trial (MIDAS) Recruiting NCT02432560 Sirolimus;Everolimus
10 Multi-component Intervention for Diabetes in Adults With Serious Mental Illness (MIDAS) Recruiting NCT03627377

Search NIH Clinical Center for Linear Skin Defects with Multiple Congenital Anomalies 1

Cochrane evidence based reviews: microphthalmia, syndromic 7

Genetic Tests for Linear Skin Defects with Multiple Congenital Anomalies 1

Genetic tests related to Linear Skin Defects with Multiple Congenital Anomalies 1:

# Genetic test Affiliating Genes
1 Linear Skin Defects with Multiple Congenital Anomalies 1 28 COX7B HCCS NDUFB11

Anatomical Context for Linear Skin Defects with Multiple Congenital Anomalies 1

Organs/tissues related to Linear Skin Defects with Multiple Congenital Anomalies 1:

MalaCards : Skin, Eye, Heart, Brain, Testis, Uterus, Lymph Node
ODiseA: Skin

Publications for Linear Skin Defects with Multiple Congenital Anomalies 1

Articles related to Linear Skin Defects with Multiple Congenital Anomalies 1:

(show top 50) (show all 1521)
# Title Authors PMID Year
1
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. 62 24 57 5
17033964 2006
2
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. 62 24 57 5
16059943 2005
3
Microphthalmia with linear skin defects: a case report and review. 62 24 57
18950397 2008
4
Twin brothers with MIDAS syndrome and XX karyotype. 62 24 57
12707958 2003
5
Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions. 62 24 57
9929982 1999
6
Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22. 62 24 57
9747372 1998
7
Second 46,XX male with MLS syndrome. 62 24 57
9508062 1998
8
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. 62 24 57
8116674 1994
9
MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. 62 24 57
8267001 1993
10
Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2. 24 57
2002490 1991
11
Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. 24 57
2308157 1990
12
Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. 62 57
12444108 2002
13
Implications of FISH investigations in MIDAS syndrome associated with a 46,XX,t(X;Y) karyotype. 62 57
12400076 2002
14
Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS). 62 57
11424926 2001
15
Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern. 62 57
9737776 1998
16
MIDAS syndrome respectively MLS syndrome: a separate entity rather than a particular lyonization pattern of the gene causing Goltz syndrome. 62 57
7645589 1995
17
The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. 62 57
8364577 1993
18
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. 62 24
27102574 2017
19
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11. 62 24
28050600 2017
20
Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. 62 24
25772934 2015
21
Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome. 62 24
25291437 2014
22
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome. 62 24
24735900 2014
23
Microphthalmia with linear skin defects syndrome. 62 24
22612277 2013
24
The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes. 62 24
23239471 2013
25
Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome. 62 24
23401659 2013
26
Fourteen-month-old girl with facial skin thinning. 57
22409474 2012
27
Pseudotail as a feature of microphthalmia with linear skin defects syndrome. 62 24
21200317 2011
28
A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn. 62 24
20179582 2010
29
MIDAS (microphthalmia, dermal aplasia, sclerocornea) syndrome with central nervous system abnormalities. 62 24
19726975 2009
30
A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI). 62 24
19610109 2009
31
Corneal pathology in microphthalmia with linear skin defects syndrome. 62 24
18580270 2008
32
Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders. 62 24
18463129 2008
33
Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome. 62 24
17845869 2007
34
HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations? 62 24
17893649 2007
35
Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization. 62 24
17286317 2007
36
Phenotype in X chromosome rearrangements: pitfalls of X inactivation study. 62 24
16690229 2007
37
Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction. 57
15988238 2005
38
Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. 57
15389708 2005
39
Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea). 62 24
15249380 2004
40
Xp22.3 microdeletion in a 19-year-old girl with clinical features of MLS syndrome. 62 24
12657015 2003
41
[Cutaneous aplasia, non compaction of the left ventricle and severe cardiac arrhythmia: a new case of MLS syndrome (microphtalmia with linear skin defects)]. 62 24
12829336 2003
42
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. 57
12543751 2003
43
Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy? 62 24
7856638 1994
44
De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies. 57
2308156 1990
45
Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy. 24
25921236 2015
46
Congenital linear streaks on the face and neck and microphthalmia in an infant girl. 24
24096629 2014
47
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. 24
23122588 2012
48
The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy. 24
17292333 2007
49
Cytochrome C-mediated apoptosis. 24
15189137 2004
50
Overlapping specificities of the mitochondrial cytochrome c and c1 heme lyases. 24
14514677 2003

Variations for Linear Skin Defects with Multiple Congenital Anomalies 1

ClinVar genetic disease variations for Linear Skin Defects with Multiple Congenital Anomalies 1:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HCCS HCCS, 8.6-KB DEL DEL Pathogenic
11669 GRCh37:
GRCh38:
2 HCCS NM_005333.5(HCCS):c.589C>T (p.Arg197Ter) SNV Pathogenic
11670 rs121917888 GRCh37: X:11139094-11139094
GRCh38: X:11120974-11120974
3 HCCS NM_005333.5(HCCS):c.649C>T (p.Arg217Cys) SNV Pathogenic
11671 rs121917889 GRCh37: X:11139772-11139772
GRCh38: X:11121652-11121652
4 NDUFB11 NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) SNV Pathogenic
190302 rs786205225 GRCh37: X:47002089-47002089
GRCh38: X:47142690-47142690
5 HCCS NM_005333.5(HCCS):c.308_309insAGT (p.Val103dup) INSERT Likely Pathogenic
987889 rs2045455875 GRCh37: X:11135440-11135441
GRCh38: X:11117320-11117321
6 HCCS NM_005333.5(HCCS):c.736C>T (p.Arg246Cys) SNV Uncertain Significance
1320309 GRCh37: X:11139859-11139859
GRCh38: X:11121739-11121739
7 HCCS NM_005333.5(HCCS):c.253-3T>G SNV Uncertain Significance
1710275 GRCh37: X:11135384-11135384
GRCh38: X:11117264-11117264
8 HCCS NM_005333.5(HCCS):c.199C>A (p.Pro67Thr) SNV Uncertain Significance
522980 rs1413276234 GRCh37: X:11133053-11133053
GRCh38: X:11114933-11114933
9 NDUFB11 NM_001135998.3(NDUFB11):c.359G>A (p.Arg120His) SNV Uncertain Significance
638355 rs782753177 GRCh37: X:47001819-47001819
GRCh38: X:47142420-47142420
10 HCCS NM_005333.5(HCCS):c.475G>A (p.Glu159Lys) SNV Not Provided
21444 rs193929392 GRCh37: X:11136694-11136694
GRCh38: X:11118574-11118574

UniProtKB/Swiss-Prot genetic disease variations for Linear Skin Defects with Multiple Congenital Anomalies 1:

73
# Symbol AA change Variation ID SNP ID
1 HCCS p.Arg217Cys VAR_030823 rs121917889

Expression for Linear Skin Defects with Multiple Congenital Anomalies 1

Search GEO for disease gene expression data for Linear Skin Defects with Multiple Congenital Anomalies 1.

Pathways for Linear Skin Defects with Multiple Congenital Anomalies 1

GO Terms for Linear Skin Defects with Multiple Congenital Anomalies 1

Cellular components related to Linear Skin Defects with Multiple Congenital Anomalies 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.54 CHST14 COX7B DISP1 DSE GJB4 NDUFB11
2 membrane GO:0016021 10.54 CHST14 COX7B DISP1 DSE GJB4 NDUFB11
3 peroxisome GO:0005777 9.85 PEX11B PEX12 PEX13 PEX16 PEX26
4 peroxisomal membrane GO:0005778 9.65 PEX26 PEX16 PEX13 PEX12 PEX11B
5 peroxisomal importomer complex GO:1990429 9.56 PEX13 PEX12
6 obsolete integral component of peroxisomal membrane GO:0005779 9.02 PEX26 PEX16 PEX13 PEX12 PEX11B

Biological processes related to Linear Skin Defects with Multiple Congenital Anomalies 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein targeting to peroxisome GO:0006625 9.67 PEX16 PEX12
2 protein import into peroxisome membrane GO:0045046 9.62 PEX26 PEX16
3 dermatan sulfate biosynthetic process GO:0030208 9.56 DSE CHST14
4 peroxisome organization GO:0007031 9.43 PEX16 PEX12 PEX11B
5 protein to membrane docking GO:0022615 9.33 PEX26 PEX16
6 protein import into peroxisome matrix GO:0016558 9.1 PEX26 PEX16 PEX12

Molecular functions related to Linear Skin Defects with Multiple Congenital Anomalies 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.23 PEX26 PEX16 PEX12 ERCC6

Sources for Linear Skin Defects with Multiple Congenital Anomalies 1

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
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