LSDMCA1
MCID: LNR013
MIFTS: 52

Linear Skin Defects with Multiple Congenital Anomalies 1 (LSDMCA1)

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

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 12 20 72 29 6 15
Midas Syndrome 57 12 73 20 43 58 72
Mls Syndrome 12 25 20 43 58 15
Mcops7 57 12 20 43 58 72
Microphthalmia with Linear Skin Defects Syndrome 25 20 43 58 36
Microphthalmia, Syndromic 7 57 43 13 44 70
Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome 12 20 58
Microphthalmia with Linear Skin Defects 57 20 72
Syndromic Microphthalmia Type 7 12 20 58
Microphthalmia, Dermal Aplasia, and Sclerocornea 57 43
Lsdmca1 57 72
Mls 57 72
Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome 25
Microphthalmia Dermal Aplasia and Sclerocornea Syndrome 20
Linear Skin Defects with Multiple Congenital Anomalies 12
Microphthalmia with Linear Skin Lesions Syndrome 43
Microphthalmia, Dermal Aplasia and Sclerocornea 72
Microphthalmia with Linear Skin Defects; Mls 57
Microphthalmia, Syndromic 7; Mcops7 57
Microphthalmia Syndromic, Type 7 39
Microphthalmia, Syndromic, 7 72
Syndromic Microphthalmia 7 12
Microphthalmia Syndromic 7 43
Syndromic Microphthalmia-7 43
Micropthalmia Syndromic 7 20
Midas 17

Characteristics:

Orphanet epidemiological data:

58
microphthalmia with linear skin defects syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked dominant

Miscellaneous:
the acronym midas is microphthalmia, dermal aplasia, sclerocornea


HPO:

31
linear skin defects with multiple congenital anomalies 1:
Inheritance x-linked dominant inheritance


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

GARD : 20 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 mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome ). According to the mutated gene, the disease may be classified in three subtypes. 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. Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.

MalaCards based summary : Linear Skin Defects with Multiple Congenital Anomalies 1, also known as midas syndrome, is related to congenital aphakia and sclerocornea. 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 Oxidative phosphorylation. The drugs Zolmitriptan and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and uterus, and related phenotypes are anophthalmia and microphthalmia

Disease Ontology : 12 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.

MedlinePlus Genetics : 43 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).

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 05-Apr-2021)

KEGG : 36 Microphthalmia with linear skin defects (MLS) syndrome is an X-linked male-lethal disorder, also known as MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), or Linear skin defects with multiple congenital anomalies (LSDMCA). Distinctive linear skin defects are usually limited to the face and neck with areas of aplastic skin. Additional features include facial dysmorphisms, sclerocornea, corneal opacities, agenesis of the corpus callosum, ventriculomegaly, microcephaly, intellectual disability, seizures, and cardiac anomalies. The clinical manifestations vary among affected individuals. Mutations in HCCS, COX7B, and NDUFB11, that encode crucial components of the mitochondrial respiratory chain (MRC), have been identified in MLS-affected females.

UniProtKB/Swiss-Prot : 72 Linear skin defects with multiple congenital anomalies 1: 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, mental retardation, 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.

Wikipedia : 73 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 148)
# Related Disease Score Top Affiliating Genes
1 congenital aphakia 30.5 PAX6 FOXE3
2 sclerocornea 30.3 RAX PAX6 HCCS FOXE3 COX7B ARHGAP6
3 peters-plus syndrome 30.0 PAX6 HCCS FOXE3
4 microphthalmia 28.1 RAX PQBP1 PORCN PAX6 NDUFB11 NAA10
5 linear skin defects with multiple congenital anomalies 2 12.0
6 mcleod syndrome 11.2
7 mucolipidoses 11.1
8 migraine with or without aura 1 10.5
9 headache 10.4
10 focal dermal hypoplasia 10.4
11 fryns microphthalmia syndrome 10.4
12 atrial standstill 1 10.3
13 anencephaly 10.3
14 autism 10.3
15 corpus callosum, agenesis of 10.3
16 aicardi syndrome 10.3
17 retinitis pigmentosa 11 10.3
18 ocular albinism 10.3
19 autism spectrum disorder 10.3
20 microcephaly 10.3
21 amelogenesis imperfecta 10.3
22 cystic lymphangioma 10.3
23 albinism 10.3
24 nonsyndromic 46,xx testicular disorders of sex development 10.3
25 chromosome xp deletion 10.3
26 cardiomyopathy, infantile histiocytoid 10.3
27 ventricular fibrillation, paroxysmal familial, 1 10.3
28 intraocular pressure quantitative trait locus 10.3
29 blepharophimosis 10.3
30 posttransplant acute limbic encephalitis 10.3
31 mitochondrial disorders 10.2
32 hypotonia 10.2
33 atherosclerosis susceptibility 10.1
34 myocardial infarction 10.1
35 spinal stenosis 10.1
36 linear skin defects with multiple congenital anomalies 3 10.1
37 alacrima, achalasia, and mental retardation syndrome 10.1
38 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
39 exanthem 10.1
40 ptosis 10.1
41 hypospadias 10.1
42 hydrocephalus 10.1
43 ventricular septal defect 10.1
44 hypogonadism 10.1
45 lactic acidosis 10.1
46 mitochondrial metabolism disease 10.1
47 cataract 10.1
48 amelogenesis imperfecta, type ie 10.1 ARHGAP6 AMELX
49 isolated microphthalmia 10.1 RAX FOXE3
50 aniseikonia 10.1 PAX6 FOXE3

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 31 (show top 50) (show all 101)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anophthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000528
2 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
3 sclerocornea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000647
4 congenital diaphragmatic hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000776
5 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
6 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
7 dermal atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0004334
8 hyperpigmentation of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000953
9 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
10 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
11 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
12 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
13 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
14 hypertrophic cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001639
15 dilated cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001644
16 arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0011675
17 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
18 hypopigmented skin patches 58 31 frequent (33%) Frequent (79-30%) HP:0001053
19 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
20 severe short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003510
21 mandibular aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0009939
22 vitritis 58 31 frequent (33%) Frequent (79-30%) HP:0011531
23 abnormal nasolacrimal system morphology 31 frequent (33%) HP:0000614
24 abnormal eyelash morphology 31 frequent (33%) HP:0000499
25 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
26 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
27 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
28 dysphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002357
29 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
30 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
31 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
32 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
33 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618
34 abnormality of the nail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001597
35 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
36 mitral valve prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0001634
37 mitral regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001653
38 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
39 abnormal testis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000035
40 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
41 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
42 chorioretinal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007731
43 posterior embryotoxon 58 31 occasional (7.5%) Occasional (29-5%) HP:0000627
44 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
45 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
46 absent septum pellucidum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001331
47 male pseudohermaphroditism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000037
48 ambiguous genitalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000062
49 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
50 epispadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000039

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.64 RAX
2 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.64 NLGN4X
3 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.64 RAX
4 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.64 HCCS RAX
5 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.64 NAT10 RAX
6 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.64 RAX
7 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.64 RAX
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.64 HCCS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.64 NAT10
10 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.64 NAT10
11 Increased shRNA abundance (Z-score > 2) GR00366-A-28 9.64 NLGN4X
12 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.64 RAX
13 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.64 RAX
14 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.64 RAX
15 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.64 NLGN4X
16 Increased shRNA abundance (Z-score > 2) GR00366-A-59 9.64 NLGN4X
17 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.64 HCCS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.64 NAT10
19 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.64 RAX

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 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zolmitriptan Approved, Investigational Phase 4 139264-17-8 441240 60857
2 Neurotransmitter Agents Phase 4
3 Serotonin 5-HT1 Receptor Agonists Phase 4
4 Serotonin Receptor Agonists Phase 4
5
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
6
Memantine Approved, Investigational 19982-08-2 4054
7
Clotrimazole Approved, Vet_approved 23593-75-1 2812
8
Everolimus Approved 159351-69-6 6442177 70789204
9
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
10
Sirolimus Approved, Investigational 53123-88-9 6436030 5284616
11 Cholinesterase Inhibitors
12 Antibiotics, Antitubercular
13 Immunosuppressive Agents
14 Immunologic Factors
15 Anti-Bacterial Agents
16 Anti-Infective Agents
17 Antifungal Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MiDAS II (Mild® Decompression Alternative to Open Surgery): Vertos Mild Patient Evaluation Study Completed NCT01082159 Phase 4
2 MiDAS I (Mild® Decompression Alternative to Open Surgery): Vertos Mild Patient Evaluation Study Completed NCT00956631 Phase 4
3 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
4 Myeloperoxidase and Multi-Markers In the Diagnosis of Diagnoses of Acute Coronary Syndrome (MIDAS) - Sample Procurement Completed NCT00415948
5 MiDAS III (Mild® Decompression Alternative to Open Surgery): Vertos Mild Patient Evaluation Study Completed NCT01315145 Epidural Steroid Injection
6 Inappropriate Medications and Alzheimer Disease: Prevalence and Associated Factors in Elderly Patients Treated With Anticholinesterase and/or Memantine. MIDA Study. Completed NCT00954616
7 Multi-component Intervention for Diabetes in Adults With Serious Mental Illness (MIDAS) Recruiting NCT03627377
8 MIDAS: Minimal-dataset for the Assessment of Surgical Outcomes - Potential in Hip Surgery (ch18Jakob3) Recruiting NCT03527407
9 Multicenter International Durability and Safety of Sirolimus in LAM Trial (MIDAS) Active, not recruiting NCT02432560 Sirolimus;Everolimus

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 29 COX7B HCCS NDUFB11

Anatomical Context for Linear Skin Defects with Multiple Congenital Anomalies 1

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

40
Skin, Eye, Uterus, Testis, Brain

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 67)
# Title Authors PMID Year
1
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. 6 57 25 61
16059943 2005
2
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. 57 25 6
17033964 2006
3
Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22. 6 25 57
9747372 1998
4
Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. 61 6 25
25772934 2015
5
Microphthalmia with linear skin defects: a case report and review. 61 57 25
18950397 2008
6
Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions. 25 61 57
9929982 1999
7
Second 46,XX male with MLS syndrome. 57 25 61
9508062 1998
8
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. 61 25 57
8116674 1994
9
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. 6 25
23122588 2012
10
Twin brothers with MIDAS syndrome and XX karyotype. 25 57
12707958 2003
11
MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. 57 25
8267001 1993
12
Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2. 25 57
2002490 1991
13
Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. 25 57
2308157 1990
14
Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. 61 57
12444108 2002
15
MIDAS syndrome respectively MLS syndrome: a separate entity rather than a particular lyonization pattern of the gene causing Goltz syndrome. 57 61
7645589 1995
16
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11. 61 25
28050600 2017
17
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. 25 61
24735900 2014
18
The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes. 25 61
23239471 2013
19
Fourteen-month-old girl with facial skin thinning. 57
22409474 2012
20
Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders. 61 25
18463129 2008
21
Corneal pathology in microphthalmia with linear skin defects syndrome. 61 25
18580270 2008
22
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. 25 61
17845869 2007
23
HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations? 61 25
17893649 2007
24
Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization. 25 61
17286317 2007
25
Phenotype in X chromosome rearrangements: pitfalls of X inactivation study. 61 25
16690229 2007
26
Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction. 57
15988238 2005
27
Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. 57
15389708 2005
28
[Cutaneous aplasia, non compaction of the left ventricle and severe cardiac arrhythmia: a new case of MLS syndrome (microphtalmia with linear skin defects)]. 61 25
12829336 2003
29
Xp22.3 microdeletion in a 19-year-old girl with clinical features of MLS syndrome. 61 25
12657015 2003
30
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
31
Implications of FISH investigations in MIDAS syndrome associated with a 46,XX,t(X;Y) karyotype. 57
12400076 2002
32
Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS). 57
11424926 2001
33
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. 57
9737776 1998
34
The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. 57
8364577 1993
35
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
36
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. 25
27102574 2017
37
Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy. 25
25921236 2015
38
Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome. 25
25291437 2014
39
Congenital linear streaks on the face and neck and microphthalmia in an infant girl. 25
24096629 2014
40
Microphthalmia with linear skin defects syndrome. 25
22612277 2013
41
Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome. 25
23401659 2013
42
Pseudotail as a feature of microphthalmia with linear skin defects syndrome. 25
21200317 2011
43
A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn. 25
20179582 2010
44
MIDAS (microphthalmia, dermal aplasia, sclerocornea) syndrome with central nervous system abnormalities. 25
19726975 2009
45
A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI). 25
19610109 2009
46
The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy. 25
17292333 2007
47
Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea). 25
15249380 2004
48
Cytochrome C-mediated apoptosis. 25
15189137 2004
49
Overlapping specificities of the mitochondrial cytochrome c and c1 heme lyases. 25
14514677 2003
50
An XX male with microphthalmos and sclerocornea. 25
9559515 1998

Variations for Linear Skin Defects with Multiple Congenital Anomalies 1

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

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HCCS HCCS, 8.6-KB DEL Deletion Pathogenic 11669 GRCh37:
GRCh38:
2 HCCS NM_005333.5(HCCS):c.475G>A (p.Glu159Lys) SNV Pathogenic 21444 rs193929392 GRCh37: X:11136694-11136694
GRCh38: X:11118574-11118574
3 HCCS NM_005333.5(HCCS):c.589C>T (p.Arg197Ter) SNV Pathogenic 11670 rs121917888 GRCh37: X:11139094-11139094
GRCh38: X:11120974-11120974
4 HCCS NM_005333.5(HCCS):c.649C>T (p.Arg217Cys) SNV Pathogenic 11671 rs121917889 GRCh37: X:11139772-11139772
GRCh38: X:11121652-11121652
5 COX7B NM_001866.3(COX7B):c.196del (p.Leu66fs) Deletion Pathogenic 39767 rs397514583 GRCh37: X:77160710-77160710
GRCh38: X:77905213-77905213
6 COX7B NM_001866.3(COX7B):c.41-2A>G SNV Pathogenic 39768 rs397514584 GRCh37: X:77158138-77158138
GRCh38: X:77902641-77902641
7 NDUFB11 NM_019056.6(NDUFB11):c.402del (p.Arg134fs) Deletion Pathogenic 190303 rs876657384 GRCh37: X:47001806-47001806
GRCh38: X:47142407-47142407
8 NDUFB11 NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter) SNV Pathogenic 190302 rs786205225 GRCh37: X:47002089-47002089
GRCh38: X:47142690-47142690
9 NDUFB11 NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter) SNV Pathogenic 190302 rs786205225 GRCh37: X:47002089-47002089
GRCh38: X:47142690-47142690
10 COX7B NM_001866.2(COX7B):c.55C>T (p.Gln19Ter) SNV Pathogenic 39769 rs397514585 GRCh37: X:77158154-77158154
GRCh38: X:77902657-77902657
11 HCCS NM_005333.5(HCCS):c.308_309insAGT (p.Val103dup) Insertion Likely pathogenic 987889 GRCh37: X:11135440-11135441
GRCh38: X:11117320-11117321
12 COX7B NM_001866.3(COX7B):c.86G>A (p.Arg29His) SNV Uncertain significance 1029387 GRCh37: X:77158185-77158185
GRCh38: X:77902688-77902688
13 HCCS NM_005333.5(HCCS):c.199C>A (p.Pro67Thr) SNV Uncertain significance 522980 rs1413276234 GRCh37: X:11133053-11133053
GRCh38: X:11114933-11114933
14 COX7B NM_001866.3(COX7B):c.217A>G (p.Thr73Ala) SNV Uncertain significance 638343 rs1603367347 GRCh37: X:77160732-77160732
GRCh38: X:77905235-77905235
15 NDUFB11 NM_019056.6(NDUFB11):c.389G>A (p.Arg130His) SNV Uncertain significance 638355 rs782753177 GRCh37: X:47001819-47001819
GRCh38: X:47142420-47142420

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

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# 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

Pathways related to Linear Skin Defects with Multiple Congenital Anomalies 1 according to KEGG:

36
# Name Kegg Source Accession
1 Oxidative phosphorylation hsa00190

GO Terms for Linear Skin Defects with Multiple Congenital Anomalies 1

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 acetylation GO:0006473 9.26 NAT10 NAA10
2 cornea development in camera-type eye GO:0061303 9.16 PAX6 FOXE3
3 iris morphogenesis GO:0061072 8.96 PAX6 FOXE3
4 camera-type eye development GO:0043010 8.8 RAX PAX6 FOXE3

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 transferase activity, transferring acyl groups GO:0016746 9.13 PORCN NAT10 NAA10
2 N-acetyltransferase activity GO:0008080 8.62 NAT10 NAA10

Sources for Linear Skin Defects with Multiple Congenital Anomalies 1

3 CDC
7 CNVD
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