MCID: NLX003
MIFTS: 19

Neu-Laxova Syndrome 2

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Neu-Laxova Syndrome 2

MalaCards integrated aliases for Neu-Laxova Syndrome 2:

Name: Neu-Laxova Syndrome 2 57 12 75 29 6 73
Nls2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
neu-laxova syndrome 2:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neu-Laxova Syndrome 2

OMIM : 57 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 lung and skin, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Neu-Laxova Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Neu-Laxova Syndrome 2:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 short neck 32 HP:0000470
4 high palate 32 HP:0000218
5 scoliosis 32 HP:0002650
6 microcephaly 32 HP:0000252
7 ichthyosis 32 HP:0008064
8 cleft palate 32 HP:0000175
9 micrognathia 32 HP:0000347
10 intrauterine growth retardation 32 HP:0001511
11 abnormality of the pinna 32 HP:0000377
12 depressed nasal ridge 32 HP:0000457
13 decreased fetal movement 32 HP:0001558
14 sloping forehead 32 HP:0000340
15 rocker bottom foot 32 HP:0001838

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 29 PSAT1

Anatomical Context for Neu-Laxova Syndrome 2

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

41
Lung, Skin

Publications for Neu-Laxova Syndrome 2

Variations for Neu-Laxova Syndrome 2

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

75
# 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
(show all 12)
# 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 GRCh38 Chromosome 9, 78304910: 78304910
8 PSAT1 NM_058179.3(PSAT1): c.367A> G (p.Ile123Val) single nucleotide variant Conflicting interpretations of pathogenicity rs116577685 GRCh37 Chromosome 9, 80919826: 80919826
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

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

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
Content
Loading form....