MCID: LNR013
MIFTS: 43

Linear Skin Defects with Multiple Congenital Anomalies 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Cardiovascular 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 53 75 29 6
Midas Syndrome 57 76 53 25 59 75
Mcops7 57 53 25 59 75
Microphthalmia with Linear Skin Defects Syndrome 24 53 25 59
Microphthalmia, Syndromic 7 57 25 13 73
Microphthalmia with Linear Skin Defects 57 53 75
Mls Syndrome 53 25 59
Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome 53 59
Microphthalmia, Dermal Aplasia, and Sclerocornea 57 25
Microphthalmia with Linear Skin Lesions Syndrome 24 25
Syndromic Microphthalmia Type 7 53 59
Lsdmca1 57 75
Mls 57 75
Microphthalmia Dermal Aplasia and Sclerocornea Syndrome 53
Microphthalmia with Linear Skin Defects Syndrome 37
Microphthalmia, Dermal Aplasia and Sclerocornea 75
Microphthalmia with Linear Skin Defects; Mls 57
Microphthalmia, Dermal Aplasia,sclerocornea 24
Microphthalmia, Syndromic 7; Mcops7 57
Microphthalmia Syndromic, Type 7 40
Microphthalmia, Syndromic, 7 75
Microphthalmia Syndromic 7 25
Syndromic Microphthalmia-7 25
Micropthalmia Syndromic 7 53

Characteristics:

Orphanet epidemiological data:

59
microphthalmia with linear skin defects syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
x-linked dominant

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


HPO:

32
linear skin defects with multiple congenital anomalies 1:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Linear Skin Defects with Multiple Congenital Anomalies 1

NIH Rare Diseases : 53 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 mucolipidosis iii alpha/beta and mucolipidosis ii alpha/beta. 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. Affiliated tissues include skin, eye and heart, and related phenotypes are agenesis of corpus callosum and hydrocephalus

Genetics Home Reference : 25 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.

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)

UniProtKB/Swiss-Prot : 75 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 : 76 Microphthalmia–dermal aplasia–sclerocornea syndrome (also known as \"MIDAS syndrome\") is a condition... 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 all 35)
# Related Disease Score Top Affiliating Genes
1 mucolipidosis iii alpha/beta 11.8
2 mucolipidosis ii alpha/beta 11.8
3 mucolipidosis iv 11.6
4 neuraminidase deficiency 11.4
5 mucolipidosis iii gamma 11.2
6 mucolipidoses 11.1
7 cardiomyopathy, infantile histiocytoid 11.1
8 anuria 11.1
9 mcleod syndrome 11.0
10 doyne honeycomb retinal dystrophy 10.8
11 infantile recurrent chronic multifocal osteomyolitis 10.8
12 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 10.8
13 ascites, chylous 10.8
14 spermatogenic failure, y-linked, 2 10.8
15 complement factor i deficiency 10.8
16 microvascular complications of diabetes 3 10.8
17 aromatase deficiency 10.8
18 masp2 deficiency 10.8
19 mannose-binding lectin deficiency 10.8
20 primary pigmented nodular adrenocortical disease 10.8
21 inclusion-cell disease 10.8
22 glycoproteinosis 10.8
23 hypervitaminosis d 10.8
24 microphthalmia 10.7
25 prostatitis 10.6
26 prostate cancer 10.5
27 chromosome xp deletion 10.2
28 glaucoma 3, primary congenital, a 10.2
29 autism 10.1
30 focal dermal hypoplasia 10.1
31 amelogenesis imperfecta 10.1
32 ocular albinism 10.1
33 autism spectrum disorder 10.1
34 albinism 10.1
35 sclerocornea 9.2 COX7B HCCS

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

Symptoms via clinical synopsis from OMIM:

57
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:
microphthalmia
sclerocornea
iris coloboma
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

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

59 32 (show top 50) (show all 99)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
2 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
3 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 seizures 59 32 Occasional (29-5%) HP:0001250
5 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
6 dysphasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002357
7 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
8 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
9 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
10 abnormal facial shape 59 32 frequent (33%) Frequent (79-30%) HP:0001999
11 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
12 abnormality of retinal pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007703
13 blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000618
14 abnormality of the nail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001597
15 hypertrophic cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001639
16 arrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0011675
17 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
18 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
19 retrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000278
20 respiratory distress 59 32 occasional (7.5%) Occasional (29-5%) HP:0002098
21 specific learning disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001328
22 hypopigmented skin patches 59 32 frequent (33%) Frequent (79-30%) HP:0001053
23 aphasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002381
24 abnormality of the eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000499
25 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
26 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
27 mitral regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001653
28 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
29 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
30 mitral valve prolapse 59 32 occasional (7.5%) Occasional (29-5%) HP:0001634
31 respiratory failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002878
32 abnormality of the testis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000035
33 retinal dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007973
34 posterior embryotoxon 59 32 occasional (7.5%) Occasional (29-5%) HP:0000627
35 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
36 amblyopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000646
37 chorioretinal dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007731
38 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
39 severe short stature 59 32 frequent (33%) Frequent (79-30%) HP:0003510
40 sacral dimple 59 32 occasional (7.5%) Occasional (29-5%) HP:0000960
41 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
42 absent septum pellucidum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001331
43 sclerocornea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000647
44 male pseudohermaphroditism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000037
45 ambiguous genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000062
46 wide nose 59 32 frequent (33%) Frequent (79-30%) HP:0000445
47 anophthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000528
48 epispadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000039
49 congenital diaphragmatic hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000776
50 dilated cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001644

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 8.92 HCCS
2 Decreased shRNA abundance GR00251-A-2 8.92 HCCS
3 Decreased shRNA abundance GR00297-A 8.92 COX7B HCCS

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Selected X-Linked Disorders: Aicardi Syndrome Recruiting NCT00697411

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

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 HCCS

Anatomical Context for Linear Skin Defects with Multiple Congenital Anomalies 1

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

41
Skin, Eye, Heart, Brain, Uterus, Testis

Publications for Linear Skin Defects with Multiple Congenital Anomalies 1

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

# Title Authors Year
1
Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea). ( 15249380 )
2004
2
MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. ( 8267001 )
1993

Variations for Linear Skin Defects with Multiple Congenital Anomalies 1

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

75
# Symbol AA change Variation ID SNP ID
1 HCCS p.Arg217Cys VAR_030823 rs121917889

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HCCS HCCS, 8.6-KB DEL deletion Pathogenic
2 HCCS NM_005333.4(HCCS): c.589C> T (p.Arg197Ter) single nucleotide variant Pathogenic rs121917888 GRCh37 Chromosome X, 11139094: 11139094
3 HCCS NM_005333.4(HCCS): c.589C> T (p.Arg197Ter) single nucleotide variant Pathogenic rs121917888 GRCh38 Chromosome X, 11120974: 11120974
4 HCCS NM_005333.4(HCCS): c.649C> T (p.Arg217Cys) single nucleotide variant Pathogenic rs121917889 GRCh37 Chromosome X, 11139772: 11139772
5 HCCS NM_005333.4(HCCS): c.649C> T (p.Arg217Cys) single nucleotide variant Pathogenic rs121917889 GRCh38 Chromosome X, 11121652: 11121652
6 HCCS NM_005333.4(HCCS): c.475G> A (p.Glu159Lys) single nucleotide variant Pathogenic rs193929392 GRCh37 Chromosome X, 11136694: 11136694
7 HCCS NM_005333.4(HCCS): c.475G> A (p.Glu159Lys) single nucleotide variant Pathogenic rs193929392 GRCh38 Chromosome X, 11118574: 11118574
8 HCCS NM_005333.4(HCCS): c.199C> A (p.Pro67Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 11114933: 11114933
9 HCCS NM_005333.4(HCCS): c.199C> A (p.Pro67Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 11133053: 11133053

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:

37
# Name Kegg Source Accession
1 Oxidative phosphorylation hsa00190

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 mitochondrion GO:0005739 9.13 COX7B HCCS NDUFB11
2 mitochondrial inner membrane GO:0005743 8.8 COX7B HCCS NDUFB11

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 oxidation-reduction process GO:0055114 8.62 HCCS NDUFB11

Sources for Linear Skin Defects with Multiple Congenital Anomalies 1

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
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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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