LSDMCA2
MCID: LNR016
MIFTS: 33

Linear Skin Defects with Multiple Congenital Anomalies 2 (LSDMCA2)

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 2

MalaCards integrated aliases for Linear Skin Defects with Multiple Congenital Anomalies 2:

Name: Linear Skin Defects with Multiple Congenital Anomalies 2 57 11 73 28 5 14 38
Aplasia Cutis Congenita, Reticulolinear, with Microcephaly, Facial Dysmorphism, and Other Congenital Anomalies 57 11 71
Lsdmca2 57 11 73
Aplcc 57 11 73
Aplasia Cutis Congenita, Reticulolinear, with Microcephaly, Facial Dysmorphism and Other Congenital Anomalies 73

Characteristics:


Inheritance:

X-linked dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands


Classifications:



Summaries for Linear Skin Defects with Multiple Congenital Anomalies 2

UniProtKB/Swiss-Prot: 73 A distinct form of aplasia cutis congenita presenting as multiple linear skin defects on the face and neck associated with poor growth, microcephaly, and facial dysmorphism. Additional features include intellectual disability, nail dystrophy, short stature and cardiac abnormalities.

MalaCards based summary: Linear Skin Defects with Multiple Congenital Anomalies 2, also known as aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies, is related to linear skin defects with multiple congenital anomalies 3 and orbital cyst. An important gene associated with Linear Skin Defects with Multiple Congenital Anomalies 2 is COX7B (Cytochrome C Oxidase Subunit 7B). Affiliated tissues include skin and lung, and related phenotypes are abnormal facial shape and microcephaly

Disease Ontology: 11 A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has material basis in heterozygous mutation in COX7B on chromosome Xq21.1.

More information from OMIM: 300887 PS309801

Related Diseases for Linear Skin Defects with Multiple Congenital Anomalies 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 linear skin defects with multiple congenital anomalies 3 10.0 HCCS COX7B
2 orbital cyst 10.0 HCCS COX7B
3 aplasia cutis congenita 9.9 PLEC COX7B
4 sclerocornea 9.9 HCCS COX7B
5 combined oxidative phosphorylation deficiency 6 9.9 COX7B BCS1L
6 linear skin defects with multiple congenital anomalies 1 9.9 HCCS COX7B
7 left ventricular noncompaction 9.8 PLEC HCCS
8 bjornstad syndrome 9.7 HCCS COX7B BCS1L
9 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.7 COX7B BCS1L

Graphical network of the top 20 diseases related to Linear Skin Defects with Multiple Congenital Anomalies 2:



Diseases related to Linear Skin Defects with Multiple Congenital Anomalies 2

Symptoms & Phenotypes for Linear Skin Defects with Multiple Congenital Anomalies 2

Human phenotypes related to Linear Skin Defects with Multiple Congenital Anomalies 2:

30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal facial shape 30 Obligate (100%) HP:0001999
2 microcephaly 30 Obligate (100%) HP:0000252
3 aplasia cutis congenita 30 Obligate (100%) HP:0001057
4 global developmental delay 30 Frequent (33%) HP:0001263
5 hypertelorism 30 Frequent (33%) HP:0000316
6 short stature 30 Frequent (33%) HP:0004322
7 short chin 30 Frequent (33%) HP:0000331
8 short nose 30 Occasional (7.5%) HP:0003196
9 visual impairment 30 Occasional (7.5%) HP:0000505
10 wide intermamillary distance 30 Occasional (7.5%) HP:0006610
11 myopia 30 Occasional (7.5%) HP:0000545
12 atrial septal defect 30 Occasional (7.5%) HP:0001631
13 sandal gap 30 Occasional (7.5%) HP:0001852
14 tetralogy of fallot 30 Occasional (7.5%) HP:0001636
15 highly arched eyebrow 30 Occasional (7.5%) HP:0002553
16 long philtrum 30 Occasional (7.5%) HP:0000343
17 high forehead 30 Occasional (7.5%) HP:0000348
18 pulmonary arterial hypertension 30 Occasional (7.5%) HP:0002092
19 optic disc pallor 30 Occasional (7.5%) HP:0000543
20 posteriorly rotated ears 30 Occasional (7.5%) HP:0000358
21 hypoplasia of the corpus callosum 30 Occasional (7.5%) HP:0002079
22 delayed myelination 30 Occasional (7.5%) HP:0012448
23 ventricular hypertrophy 30 Occasional (7.5%) HP:0001714

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Height:
short stature (2/4 patients)

Head And Neck Face:
reticulolinear skin defects, congenital (4/4 patients)
high forehead (1/4 patients)
long philtrum (1/4 patients)
asymmetric face (1/4 patients)
small chin (2/4 patients)

Head And Neck Ears:
posteriorly rotated ears (1/4 patients)

Head And Neck Nose:
short nose (1/4 patients)

Cardiovascular Vascular:
pulmonary hypertension (1/4 patients)

Chest Breasts:
widely spaced nipples (1/4 patients)

Genitourinary Kidneys:
renal agenesis, left-sided (1/4 patients)

Skeletal Hands:
clinodactyly of fifth fingers (1/4 patients)

Skin Nails Hair Skin:
reticulolinear skin defects over face and neck (4/4 patients)
erythroderma, patchy, on cheeks and chin (1/4 patients)

Skin Nails Hair Skin Electron Microscopy:
cytoplasmic bodies, 80 nm to 100 nm, with electron-dense membrane, within keratinocytes of perilesional skin (1/4 patients)

Neurologic Behavioral Psychiatric Manifestations:
attention-deficit/hyperactivity disorder (1/4 patients)

Head And Neck Head:
microcephaly (3/4 patients)

Head And Neck Neck:
reticulolinear skin defects, congenital (4/4 patients)

Head And Neck Eyes:
hypertelorism (2/4 patients)
limited eyelid closure (1/4 patients)
arched eyebrows (1/4 patients)
long upslanting palpebral fissures (1/4 patients)
myopia (1/4 patients)
more
Cardiovascular Heart:
atrial septal defect (1/4 patients)
ventricular hypertrophy (1/4 patients)
tetralogy of fallot (1/4 patients)

Chest External Features:
asymmetric thorax (1/4 patients)

Chest Diaphragm:
diaphragmatic hernia, right-sided (1/4 patients)

Genitourinary Ureters:
ureteral duplication, right-sided (1/4 patients)

Skeletal Feet:
sandal gap (1/4 patients)

Skin Nails Hair Skin Histology:
mild perivascular lymphocyte infiltrate in perilesional skin (1/4 patients)
regeneration of dermis in perilesional skin (1/4 patients)
no intraepidermal or subepidermal cleavage in perilesional skin (1/4 patients)
uninvolved skin unremarkable (1/4 patients)

Neurologic Central Nervous System:
psychomotor retardation (2/4 patients)
thin corpus callosum (1/4 patients)
delayed myelination (1/4 patients)

Clinical features from OMIM®:

300887 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Linear Skin Defects with Multiple Congenital Anomalies 2 according to GeneCards Suite gene sharing:

25 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.35 HCCS
2 Decreased shRNA abundance GR00251-A-2 9.35 HCCS
3 Decreased shRNA abundance GR00297-A 9.35 COX7B HCCS PYCR1
4 Decreased viability with paclitaxel GR00054-A 9.33 PLEC
5 Decreased viability with paclitaxel GR00293-A 9.33 BCS1L PLEC
6 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.17 BCS1L
7 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.17 HCCS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.17 BCS1L
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.17 HCCS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.17 BCS1L
11 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.17 BCS1L
12 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.17 HCCS

Drugs & Therapeutics for Linear Skin Defects with Multiple Congenital Anomalies 2

Search Clinical Trials, NIH Clinical Center for Linear Skin Defects with Multiple Congenital Anomalies 2

Genetic Tests for Linear Skin Defects with Multiple Congenital Anomalies 2

Genetic tests related to Linear Skin Defects with Multiple Congenital Anomalies 2:

# Genetic test Affiliating Genes
1 Linear Skin Defects with Multiple Congenital Anomalies 2 28 COX7B

Anatomical Context for Linear Skin Defects with Multiple Congenital Anomalies 2

Organs/tissues related to Linear Skin Defects with Multiple Congenital Anomalies 2:

MalaCards : Skin, Lung
ODiseA: Skin

Publications for Linear Skin Defects with Multiple Congenital Anomalies 2

Articles related to Linear Skin Defects with Multiple Congenital Anomalies 2:

# Title Authors PMID Year
1
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. 57 5
23122588 2012
2
Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22. 57 5
9747372 1998
3
Abstracts of the 5th Asia Pacific Lung Cancer Conference (APLCC) and the 3rd Annual Meeting of the International Thymic Malignancy Interest Group. November 25-28, 2012. Fukuoka, Japan. 62
23193552 2012

Variations for Linear Skin Defects with Multiple Congenital Anomalies 2

ClinVar genetic disease variations for Linear Skin Defects with Multiple Congenital Anomalies 2:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COX7B NM_001866.3(COX7B):c.196del (p.Leu66fs) DEL Pathogenic
39767 rs397514583 GRCh37: X:77160710-77160710
GRCh38: X:77905213-77905213
2 COX7B NM_001866.3(COX7B):c.41-2A>G SNV Pathogenic
39768 rs397514584 GRCh37: X:77158138-77158138
GRCh38: X:77902641-77902641
3 COX7B NM_001866.2(COX7B):c.55C>T (p.Gln19Ter) SNV Pathogenic
39769 rs397514585 GRCh37: X:77158154-77158154
GRCh38: X:77902657-77902657
4 COX7B NM_001866.3(COX7B):c.86G>A (p.Arg29His) SNV Uncertain Significance
1029387 rs782685682 GRCh37: X:77158185-77158185
GRCh38: X:77902688-77902688
5 COX7B NM_001866.3(COX7B):c.217A>G (p.Thr73Ala) SNV Uncertain Significance
638343 rs1603367347 GRCh37: X:77160732-77160732
GRCh38: X:77905235-77905235

Expression for Linear Skin Defects with Multiple Congenital Anomalies 2

Search GEO for disease gene expression data for Linear Skin Defects with Multiple Congenital Anomalies 2.

Pathways for Linear Skin Defects with Multiple Congenital Anomalies 2

GO Terms for Linear Skin Defects with Multiple Congenital Anomalies 2

Cellular components related to Linear Skin Defects with Multiple Congenital Anomalies 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.1 HCCS COX7B BCS1L

Biological processes related to Linear Skin Defects with Multiple Congenital Anomalies 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 8.8 PLEC BCS1L

Sources for Linear Skin Defects with Multiple Congenital Anomalies 2

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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