LSDMCA2
MCID: LNR016
MIFTS: 25

Linear Skin Defects with Multiple Congenital Anomalies 2 (LSDMCA2)

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 2

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

Name: Linear Skin Defects with Multiple Congenital Anomalies 2 57 12 72 29 6
Aplasia Cutis Congenita, Reticulolinear, with Microcephaly, Facial Dysmorphism, and Other Congenital Anomalies 57 12 70
Lsdmca2 57 12 72
Aplcc 57 12 72
Aplasia Cutis Congenita, Reticulolinear, with Microcephaly, Facial Dysmorphism, and Other Congenital Anomalies; Aplcc 57
Aplasia Cutis Congenita, Reticulolinear, with Microcephaly, Facial Dysmorphism and Other Congenital Anomalies 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked dominant

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


HPO:

31
linear skin defects with multiple congenital anomalies 2:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Linear Skin Defects with Multiple Congenital Anomalies 2

UniProtKB/Swiss-Prot : 72 Linear skin defects with multiple congenital anomalies 2: 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, is also known as aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies. 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 eye, and related phenotypes are abnormal facial shape and microcephaly

Disease Ontology : 12 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

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

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

31 (showing 24, show less)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 31 obligate (100%) HP:0001999
2 microcephaly 31 obligate (100%) HP:0000252
3 aplasia cutis congenita 31 obligate (100%) HP:0001057
4 global developmental delay 31 frequent (33%) HP:0001263
5 hypertelorism 31 frequent (33%) HP:0000316
6 short stature 31 frequent (33%) HP:0004322
7 short chin 31 frequent (33%) HP:0000331
8 short nose 31 occasional (7.5%) HP:0003196
9 visual impairment 31 occasional (7.5%) HP:0000505
10 wide intermamillary distance 31 occasional (7.5%) HP:0006610
11 myopia 31 occasional (7.5%) HP:0000545
12 atrial septal defect 31 occasional (7.5%) HP:0001631
13 sandal gap 31 occasional (7.5%) HP:0001852
14 tetralogy of fallot 31 occasional (7.5%) HP:0001636
15 highly arched eyebrow 31 occasional (7.5%) HP:0002553
16 long philtrum 31 occasional (7.5%) HP:0000343
17 high forehead 31 occasional (7.5%) HP:0000348
18 pulmonary arterial hypertension 31 occasional (7.5%) HP:0002092
19 hypoplasia of the corpus callosum 31 occasional (7.5%) HP:0002079
20 optic disc pallor 31 occasional (7.5%) HP:0000543
21 posteriorly rotated ears 31 occasional (7.5%) HP:0000358
22 delayed myelination 31 occasional (7.5%) HP:0012448
23 ventricular hypertrophy 31 occasional (7.5%) HP:0001714
24 psychomotor retardation 31 HP:0025356

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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 29 COX7B

Anatomical Context for Linear Skin Defects with Multiple Congenital Anomalies 2

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

40
Skin, Eye

Publications for Linear Skin Defects with Multiple Congenital Anomalies 2

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

(showing 3, show less)
# Title Authors PMID Year
1
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. 57 6
23122588 2012
2
Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22. 57 6
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. 61
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:

6 (showing 5, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COX7B NM_001866.3(COX7B):c.196del (p.Leu66fs) Deletion 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.217A>G (p.Thr73Ala) SNV Uncertain significance 638343 rs1603367347 GRCh37: X:77160732-77160732
GRCh38: X:77905235-77905235
5 COX7B NM_001866.3(COX7B):c.86G>A (p.Arg29His) SNV Uncertain significance 1029387 GRCh37: X:77158185-77158185
GRCh38: X:77902688-77902688

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

Sources for Linear Skin Defects with Multiple Congenital Anomalies 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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