MCID: LNR014
MIFTS: 20

Linear Skin Defects with Multiple Congenital Anomalies 3

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 3

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

Name: Linear Skin Defects with Multiple Congenital Anomalies 3 57 75 6
Linear Skin Defects with Cardiomyopathy and Other Congenital Anomalies 57 75
Lsdmca3 57 75
Skin Defects, Linear, with Multiple Congenital Anomalies, Type 3 40

Characteristics:

OMIM:

57
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:

32
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 : 75 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 strabismus and myopia

Description from OMIM: 300952

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
strabismus
myopia
lacrimal duct atresia

Growth Other:
failure to thrive

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)

Neurologic Central Nervous System:
seizures
dilation of lateral ventricles
axial hypotonia
corpus callosum agenesis

Cardiovascular Heart:
cardiac arrest
ventricular tachycardia
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

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 strabismus 32 HP:0000486
2 myopia 32 HP:0000545
3 lacrimal duct atresia 32 HP:0000564
4 nystagmus 32 HP:0000639
5 seizures 32 HP:0001250
6 agenesis of corpus callosum 32 HP:0001274
7 failure to thrive 32 HP:0001508
8 dilated cardiomyopathy 32 HP:0001644
9 ventricular fibrillation 32 HP:0001663
10 cardiac arrest 32 HP:0001695
11 ventricular tachycardia 32 HP:0004756
12 dilation of lateral ventricles 32 HP:0006956
13 muscular hypotonia of the trunk 32 HP:0008936

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

Anatomical Context for Linear Skin Defects with Multiple Congenital Anomalies 3

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

41
Skin, Thyroid

Publications for Linear Skin Defects with Multiple Congenital Anomalies 3

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 Variation Type Significance SNP ID Assembly Location
1 NDUFB11 NM_019056.6(NDUFB11): c.262C> T (p.Arg88Ter) single nucleotide variant Pathogenic rs786205225 GRCh37 Chromosome X, 47002089: 47002089
2 NDUFB11 NM_019056.6(NDUFB11): c.262C> T (p.Arg88Ter) single nucleotide variant Pathogenic rs786205225 GRCh38 Chromosome X, 47142690: 47142690
3 NDUFB11 NM_019056.6(NDUFB11): c.402delG (p.Arg134Serfs) deletion Pathogenic rs876657384 GRCh37 Chromosome X, 47001806: 47001806
4 NDUFB11 NM_019056.6(NDUFB11): c.402delG (p.Arg134Serfs) deletion Pathogenic rs876657384 GRCh38 Chromosome X, 47142407: 47142407

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 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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