LSDMCA3
MCID: LNR014
MIFTS: 23

Linear Skin Defects with Multiple Congenital Anomalies 3 (LSDMCA3)

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 3

MalaCards integrated aliases for Linear Skin Defects with Multiple Congenital Anomalies 3:

Name: Linear Skin Defects with Multiple Congenital Anomalies 3 57 12 72 29 6
Linear Skin Defects with Cardiomyopathy and Other Congenital Anomalies 57 12 72
Lsdmca3 57 12 72
Skin Defects, Linear, with Multiple Congenital Anomalies, Type 3 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked dominant

Miscellaneous:
based on report of 2 unrelated patients (last curated may 2015)
skewed x-inactivation, with complete skewing in some individuals
congenital linear skin defects may disappear within a few months of life


HPO:

31
linear skin defects with multiple congenital anomalies 3:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Linear Skin Defects with Multiple Congenital Anomalies 3

UniProtKB/Swiss-Prot : 72 Linear skin defects with multiple congenital anomalies 3: A disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA3 clinical features include linear skin defects on face and neck at birth, lacrimal duct atresia, myopia, nystagmus, strabismus, cardiomyopathy, axial hypotonia, seizures, corpus callosum agenesis, and dilation of lateral ventricles.

MalaCards based summary : Linear Skin Defects with Multiple Congenital Anomalies 3, is also known as linear skin defects with cardiomyopathy and other congenital anomalies. An important gene associated with Linear Skin Defects with Multiple Congenital Anomalies 3 is NDUFB11 (NADH:Ubiquinone Oxidoreductase Subunit B11). Affiliated tissues include skin and thyroid, and related phenotypes are agenesis of corpus callosum and failure to thrive

Disease Ontology : 12 A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has material basis in heterozygous mutation in NDUFB11 on chromosome Xp11.3.

More information from OMIM: 300952 PS309801

Related Diseases for Linear Skin Defects with Multiple Congenital Anomalies 3

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 3

Human phenotypes related to Linear Skin Defects with Multiple Congenital Anomalies 3:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 HP:0001274
2 failure to thrive 31 HP:0001508
3 nystagmus 31 HP:0000639
4 strabismus 31 HP:0000486
5 myopia 31 HP:0000545
6 dilated cardiomyopathy 31 HP:0001644
7 muscular hypotonia of the trunk 31 HP:0008936
8 lacrimal duct atresia 31 HP:0000564
9 ventricular tachycardia 31 HP:0004756
10 cardiac arrest 31 HP:0001695
11 ventricular fibrillation 31 HP:0001663
12 dilation of lateral ventricles 31 HP:0006956
13 seizure 31 HP:0001250
14 hyperpigmented streaks 31 HP:0007572

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
dilation of lateral ventricles
axial hypotonia
corpus callosum agenesis

Head And Neck Eyes:
nystagmus
strabismus
myopia
lacrimal duct atresia

Head And Neck Teeth:
delayed dentition

Head And Neck Face:
linear skin defects on face at birth (in both patients)

Skin Nails Hair Skin:
linear skin defects on face and neck (in both patients)
atrophic hyperpigmented streaks on face and neck
linear atrophic hyperpigmented streak on left index finger

Metabolic Features:
normal blood lactate levels (in both patients)

Growth Other:
failure to thrive

Cardiovascular Heart:
ventricular tachycardia
cardiac arrest
ventricular fibrillation
cardiomyopathy, dilated
cardiomyopathy, histiocytoid

Endocrine Features:
c-cell hyperplasia
thyroid oncocytic metaplasia

Head And Neck Neck:
linear skin defects on neck at birth (in both patients)

Muscle Soft Tissue:
muscular hypotonia, severe

Clinical features from OMIM®:

300952 (Updated 05-Apr-2021)

Drugs & Therapeutics for Linear Skin Defects with Multiple Congenital Anomalies 3

Search Clinical Trials , NIH Clinical Center for Linear Skin Defects with Multiple Congenital Anomalies 3

Genetic Tests for Linear Skin Defects with Multiple Congenital Anomalies 3

Genetic tests related to Linear Skin Defects with Multiple Congenital Anomalies 3:

# Genetic test Affiliating Genes
1 Linear Skin Defects with Multiple Congenital Anomalies 3 29 NDUFB11

Anatomical Context for Linear Skin Defects with Multiple Congenital Anomalies 3

MalaCards organs/tissues related to Linear Skin Defects with Multiple Congenital Anomalies 3:

40
Skin, Thyroid

Publications for Linear Skin Defects with Multiple Congenital Anomalies 3

Articles related to Linear Skin Defects with Multiple Congenital Anomalies 3:

# Title Authors PMID Year
1
Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. 57 6
25772934 2015
2
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 57
26741492 2016

Variations for Linear Skin Defects with Multiple Congenital Anomalies 3

ClinVar genetic disease variations for Linear Skin Defects with Multiple Congenital Anomalies 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NDUFB11 NM_019056.6(NDUFB11):c.402del (p.Arg134fs) Deletion Pathogenic 190303 rs876657384 GRCh37: X:47001806-47001806
GRCh38: X:47142407-47142407
2 NDUFB11 NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter) SNV Pathogenic 190302 rs786205225 GRCh37: X:47002089-47002089
GRCh38: X:47142690-47142690
3 NDUFB11 NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter) SNV Pathogenic 190302 rs786205225 GRCh37: X:47002089-47002089
GRCh38: X:47142690-47142690

Expression for Linear Skin Defects with Multiple Congenital Anomalies 3

Search GEO for disease gene expression data for Linear Skin Defects with Multiple Congenital Anomalies 3.

Pathways for Linear Skin Defects with Multiple Congenital Anomalies 3

GO Terms for Linear Skin Defects with Multiple Congenital Anomalies 3

Sources for Linear Skin Defects with Multiple Congenital Anomalies 3

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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