Linear Skin Defects with Multiple Congenital Anomalies 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Skin diseases Neuronal diseases Eye diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

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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

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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:

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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	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

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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

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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

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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

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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	Indrieri A...Franco B	23122588	2012
2	Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22. ⁵⁷ ⁵	Zvulunov A...Carmi R	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

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Genes for Linear Skin Defects with Multiple Congenital Anomalies 2

Genes related to Linear Skin Defects with Multiple Congenital Anomalies 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	COX7B	Cytochrome C Oxidase Subunit 7B	Protein Coding	1015.38	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	9747372 23122588
2	HCCS	Holocytochrome C Synthase	Protein Coding	6.12	DISEASES inferred ¹⁴
3	BCS1L	BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone	Protein Coding	5.91	DISEASES inferred ¹⁴
4	MPZL3	Myelin Protein Zero Like 3	Protein Coding	5.52	DISEASES inferred ¹⁴
5	PYCR1	Pyrroline-5-Carboxylate Reductase 1	Protein Coding	5.39	DISEASES inferred ¹⁴
6	PLEC	Plectin	Protein Coding	5.04	DISEASES inferred ¹⁴

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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

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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.

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Pathways for Linear Skin Defects with Multiple Congenital Anomalies 2

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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

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Sources for Linear Skin Defects with Multiple Congenital Anomalies 2

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Linear Skin Defects with Multiple Congenital Anomalies 2 (LSDMCA2)

Aliases & Classifications for Linear Skin Defects with Multiple Congenital Anomalies 2

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

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Linear Skin Defects with Multiple Congenital Anomalies 2

Related Diseases for Linear Skin Defects with Multiple Congenital Anomalies 2

Diseases in the Linear Skin Defects with Multiple Congenital Anomalies 1 family:

Diseases related to Linear Skin Defects with Multiple Congenital Anomalies 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Drugs & Therapeutics 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:

Anatomical Context for Linear Skin Defects with Multiple Congenital Anomalies 2

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

Publications for Linear Skin Defects with Multiple Congenital Anomalies 2

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

Genes for Linear Skin Defects with Multiple Congenital Anomalies 2

Genes related to Linear Skin Defects with Multiple Congenital Anomalies 2 (1 elite genes):

Variations for Linear Skin Defects with Multiple Congenital Anomalies 2

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

Expression 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:

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

Sources for Linear Skin Defects with Multiple Congenital Anomalies 2