MCID: LNR016
MIFTS: 22

Linear Skin Defects with Multiple Congenital Anomalies 2

Categories: Genetic diseases, Skin diseases, Cardiovascular diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal 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 75 29 6
Aplasia Cutis Congenita, Reticulolinear, with Microcephaly, Facial Dysmorphism, and Other Congenital Anomalies 57 73
Lsdmca2 57 75
Aplcc 57 75
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 75

Characteristics:

OMIM:

57
Inheritance:
x-linked dominant

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


HPO:

32
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 : 75 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 related phenotypes are hypertelorism and global developmental delay

Description from OMIM: 300887

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 frequent (33%) HP:0000316
2 global developmental delay 32 frequent (33%) HP:0001263
3 abnormal facial shape 32 obligate (100%) HP:0001999
4 short nose 32 occasional (7.5%) HP:0003196
5 microcephaly 32 obligate (100%) HP:0000252
6 visual impairment 32 occasional (7.5%) HP:0000505
7 short stature 32 frequent (33%) HP:0004322
8 long philtrum 32 occasional (7.5%) HP:0000343
9 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
10 wide intermamillary distance 32 occasional (7.5%) HP:0006610
11 myopia 32 occasional (7.5%) HP:0000545
12 atrial septal defect 32 occasional (7.5%) HP:0001631
13 sandal gap 32 occasional (7.5%) HP:0001852
14 tetralogy of fallot 32 occasional (7.5%) HP:0001636
15 high forehead 32 occasional (7.5%) HP:0000348
16 highly arched eyebrow 32 occasional (7.5%) HP:0002553
17 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
18 optic disc pallor 32 occasional (7.5%) HP:0000543
19 posteriorly rotated ears 32 occasional (7.5%) HP:0000358
20 aplasia cutis congenita 32 obligate (100%) HP:0001057
21 ventricular hypertrophy 32 occasional (7.5%) HP:0001714
22 short chin 32 frequent (33%) HP:0000331
23 delayed myelination 32 occasional (7.5%) HP:0012448

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:

41
Skin

Publications for Linear Skin Defects with Multiple Congenital Anomalies 2

Variations for Linear Skin Defects with Multiple Congenital Anomalies 2

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COX7B NM_001866.2(COX7B): c.196delC (p.Leu66Cysfs) deletion Pathogenic rs397514583 GRCh37 Chromosome X, 77160711: 77160711
2 COX7B NM_001866.2(COX7B): c.196delC (p.Leu66Cysfs) deletion Pathogenic rs397514583 GRCh38 Chromosome X, 77905214: 77905214
3 COX7B NM_001866.2(COX7B): c.41-2A> G single nucleotide variant Pathogenic rs397514584 GRCh37 Chromosome X, 77158138: 77158138
4 COX7B NM_001866.2(COX7B): c.41-2A> G single nucleotide variant Pathogenic rs397514584 GRCh38 Chromosome X, 77902641: 77902641
5 COX7B NM_001866.2(COX7B): c.55C> T (p.Gln19Ter) single nucleotide variant Pathogenic rs397514585 GRCh37 Chromosome X, 77158154: 77158154
6 COX7B NM_001866.2(COX7B): c.55C> T (p.Gln19Ter) single nucleotide variant Pathogenic rs397514585 GRCh38 Chromosome X, 77902657: 77902657

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 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
55 Novoseek
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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