NLS2
MCID: NLX003
MIFTS: 23

Neu-Laxova Syndrome 2 (NLS2)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Neu-Laxova Syndrome 2

MalaCards integrated aliases for Neu-Laxova Syndrome 2:

Name: Neu-Laxova Syndrome 2 58 12 76 30 6 74
Nls2 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
usually death in utero or rarely in neonatal period


HPO:

33
neu-laxova syndrome 2:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neu-Laxova Syndrome 2

OMIM : 58 Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014). For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (256520). (616038)

MalaCards based summary : Neu-Laxova Syndrome 2, is also known as nls2, and has symptoms including edema of foot (finding) An important gene associated with Neu-Laxova Syndrome 2 is PSAT1 (Phosphoserine Aminotransferase 1). Affiliated tissues include skin and eye, and related phenotypes are hypertelorism and low-set ears

Disease Ontology : 12 A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has material basis in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine.

UniProtKB/Swiss-Prot : 76 Neu-Laxova syndrome 2: A form of Neu-Laxova syndrome, a lethal, autosomal recessive multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, limb deformities, hypoplastic lungs, edema, and central nervous system anomalies. These include lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum. Abnormal facial features include severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears.

Related Diseases for Neu-Laxova Syndrome 2

Diseases in the Neu-Laxova Syndrome 1 family:

Neu-Laxova Syndrome 2

Symptoms & Phenotypes for Neu-Laxova Syndrome 2

Human phenotypes related to Neu-Laxova Syndrome 2:

33 (showing 15, show less)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 low-set ears 33 HP:0000369
3 short neck 33 HP:0000470
4 high palate 33 HP:0000218
5 scoliosis 33 HP:0002650
6 microcephaly 33 HP:0000252
7 ichthyosis 33 HP:0008064
8 cleft palate 33 HP:0000175
9 micrognathia 33 HP:0000347
10 intrauterine growth retardation 33 HP:0001511
11 abnormality of the pinna 33 HP:0000377
12 depressed nasal ridge 33 HP:0000457
13 decreased fetal movement 33 HP:0001558
14 sloping forehead 33 HP:0000340
15 rocker bottom foot 33 HP:0001838

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
absent or abnormal eyelids

Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
high-arched palate
round, gaping mouth
abnormal mouth

Head And Neck Nose:
flat nose
abnormal nose

Growth Other:
intrauterine growth retardation (iugr)

Prenatal Manifestations Movement:
decreased fetal movements

Skeletal Hands:
deformed digits
swollen hands

Head And Neck Ears:
low-set ears
malformed ears

Skeletal Spine:
scoliosis

Skin Nails Hair Skin:
ichthyosis
taunt skin

Head And Neck Face:
micrognathia
sloping forehead

Skeletal Feet:
rocker-bottom feet
deformed digits
swollen feet

Muscle Soft Tissue:
subcutaneous edema

Skeletal Limbs:
deformed limbs

Neurologic Central Nervous System:
decreased or absent gyri (in some patients)

Clinical features from OMIM:

616038

UMLS symptoms related to Neu-Laxova Syndrome 2:


edema of foot (finding)

Drugs & Therapeutics for Neu-Laxova Syndrome 2

Search Clinical Trials , NIH Clinical Center for Neu-Laxova Syndrome 2

Genetic Tests for Neu-Laxova Syndrome 2

Genetic tests related to Neu-Laxova Syndrome 2:

# Genetic test Affiliating Genes
1 Neu-Laxova Syndrome 2 30 PSAT1

Anatomical Context for Neu-Laxova Syndrome 2

MalaCards organs/tissues related to Neu-Laxova Syndrome 2:

42
Skin, Eye

Publications for Neu-Laxova Syndrome 2

Articles related to Neu-Laxova Syndrome 2:

(showing 4, show less)
# Title Authors Year
1
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. ( 25152457 )
2014
2
Nuclear import of isoforms of the cytomegalovirus kinase pUL97 is mediated by differential activity of NLS1 and NLS2 both acting through classical importin-α binding. ( 22552943 )
2012
3
Influenza A H3N2 subtype virus NS1 protein targets into the nucleus and binds primarily via its C-terminal NLS2/NoLS to nucleolin and fibrillarin. ( 22909121 )
2012
4
Nuclear localization sequences in cytomegalovirus capsid assembly proteins (UL80 proteins) are required for virus production: inactivating NLS1, NLS2, or both affects replication to strikingly different extents. ( 18353959 )
2008

Variations for Neu-Laxova Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Neu-Laxova Syndrome 2:

76 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 PSAT1 p.Ala99Val VAR_072571 rs587777778
2 PSAT1 p.Ser179Leu VAR_072572 rs587777777

ClinVar genetic disease variations for Neu-Laxova Syndrome 2:

6 (showing 16, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 PSAT1 NM_058179.3(PSAT1): c.1023_1027delCCGGGinsAGACCT (p.Arg342Aspfs) indel Pathogenic rs587777776 GRCh37 Chromosome 9, 80943912: 80943916
2 PSAT1 NM_058179.3(PSAT1): c.1023_1027delCCGGGinsAGACCT (p.Arg342Aspfs) indel Pathogenic rs587777776 GRCh38 Chromosome 9, 78328996: 78329000
3 PSAT1 NM_058179.3(PSAT1): c.536C> T (p.Ser179Leu) single nucleotide variant Pathogenic rs587777777 GRCh37 Chromosome 9, 80921368: 80921368
4 PSAT1 NM_058179.3(PSAT1): c.536C> T (p.Ser179Leu) single nucleotide variant Pathogenic rs587777777 GRCh38 Chromosome 9, 78306452: 78306452
5 PSAT1 NM_058179.3(PSAT1): c.296C> T (p.Ala99Val) single nucleotide variant Pathogenic rs587777778 GRCh38 Chromosome 9, 78304839: 78304839
6 PSAT1 NM_058179.3(PSAT1): c.296C> T (p.Ala99Val) single nucleotide variant Pathogenic rs587777778 GRCh37 Chromosome 9, 80919755: 80919755
7 PSAT1 NM_058179.3(PSAT1): c.367A> G (p.Ile123Val) single nucleotide variant Conflicting interpretations of pathogenicity rs116577685 GRCh37 Chromosome 9, 80919826: 80919826
8 PSAT1 NM_058179.3(PSAT1): c.367A> G (p.Ile123Val) single nucleotide variant Conflicting interpretations of pathogenicity rs116577685 GRCh38 Chromosome 9, 78304910: 78304910
9 PSAT1 NM_058179.3(PSAT1): c.348G> A (p.Lys116=) single nucleotide variant Benign rs41277897 GRCh38 Chromosome 9, 78304891: 78304891
10 PSAT1 NM_058179.3(PSAT1): c.348G> A (p.Lys116=) single nucleotide variant Benign rs41277897 GRCh37 Chromosome 9, 80919807: 80919807
11 PSAT1 NM_058179.3(PSAT1): c.916C> T (p.Arg306Cys) single nucleotide variant Likely benign rs113824905 GRCh38 Chromosome 9, 78328097: 78328097
12 PSAT1 NM_058179.3(PSAT1): c.916C> T (p.Arg306Cys) single nucleotide variant Likely benign rs113824905 GRCh37 Chromosome 9, 80943013: 80943013
13 PSAT1 NM_058179.3(PSAT1): c.178delG (p.Val60Cysfs) deletion Pathogenic GRCh38 Chromosome 9, 78302010: 78302010
14 PSAT1 NM_058179.3(PSAT1): c.178delG (p.Val60Cysfs) deletion Pathogenic GRCh37 Chromosome 9, 80916926: 80916926
15 PSAT1 NM_058179.3(PSAT1): c.395C> G (p.Thr132Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 78304938: 78304938
16 PSAT1 NM_058179.3(PSAT1): c.395C> G (p.Thr132Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 80919854: 80919854

Expression for Neu-Laxova Syndrome 2

Search GEO for disease gene expression data for Neu-Laxova Syndrome 2.

Pathways for Neu-Laxova Syndrome 2

GO Terms for Neu-Laxova Syndrome 2

Sources for Neu-Laxova Syndrome 2

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75 UMLS via Orphanet
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