NLS1
MCID: NLX004
MIFTS: 55

Neu-Laxova Syndrome 1 (NLS1)

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

Aliases & Classifications for Neu-Laxova Syndrome 1

MalaCards integrated aliases for Neu-Laxova Syndrome 1:

Name: Neu-Laxova Syndrome 1 57 12 72 29 6 15
Neu-Laxova Syndrome 57 20 58 36 29 39 70
Neu Laxova Syndrome 73 20
Nls1 57 72
Nls 57 20
3-Phosphoglycerate Dehydrogenase Deficiency, Neonatal Form 20
Neu-Laxova Syndrome; Nls 57

Characteristics:

Orphanet epidemiological data:

58
neu-laxova syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: infantile,stillbirth;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
polyhydramnios
small placenta
short umbilical cord
stillborn
decreased fetal activity
most patients are stillborn or die in immediate neonatal period

Inheritance:
autosomal recessive


HPO:

31
neu-laxova syndrome 1:
Onset and clinical course stillbirth
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Neu-Laxova Syndrome 1

GARD : 20 Neu Laxova syndrome (NLS) is a genetic disorder affecting many parts of the body. Babies born with NLS usually grow poorly during pregnancy ( intrauterine growth restriction ). At birth, they may be small (low birth weight and short in length) and their facial features are usually different and distinct. The babies may have a small head ( microcephaly ), sloping forehead, and widely spaced eyes (hypertelorism). Babies with NLS may also have extra fluid ( edema ) in their hands and feet, brain abnormalities, and rigid, stiff muscles. Other birth defects may affect the baby's arms, legs, skin, genitals, kidneys, and heart. Not every baby with NLS will have every sign or symptom of NLS. Neu Laxova syndrome (NLS) is caused by changes or mutations in one of three different genes, PHGDH, PSAT1, PSPH. The mutations cause too little L-serine (an amino acid ) to be made. There must be a mutation in both copies of one of these genes, which means NLS is inherited in an autosomal recessive manner. NLS can be diagnosed both prenatally by an ultrasound or after birth. The diagnosis is suspected by signs and symptoms, but may be confirmed by genetic testing (prenatally by chorionic villi sampling (CVS) or amniocentesis ; after birth by genetic blood test). There is no cure or treatment for NLS at this time, but L-serine supplementation may prove to be an effective treatment in the future if the NLS is found early during a pregnancy.

MalaCards based summary : Neu-Laxova Syndrome 1, also known as neu-laxova syndrome, is related to ectropion and serine deficiency. An important gene associated with Neu-Laxova Syndrome 1 is PHGDH (Phosphoglycerate Dehydrogenase), and among its related pathways/superpathways are Glycine, serine and threonine metabolism and Vitamin B6 metabolism. Affiliated tissues include eye, placenta and skeletal muscle, and related phenotypes are thick vermilion border and microcephaly

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 PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine.

OMIM® : 57 Neu-Laxova syndrome is an autosomal recessive lethal multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, central nervous system anomalies (lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum), limb deformities, hypoplastic lungs, edema, and abnormal facial features including severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears (summary by Manning et al., 2004). (256520) (Updated 20-May-2021)

KEGG : 36 Neu-Laxova syndrome (NLS) is an autosomal recessive multiple malformation syndrome characterized by a recognizable pattern of severe malformations leading to prenatal or early postnatal lethality. It is characterized by ichthyosis, marked intrauterine growth restriction (IUGR), microcephaly, short neck, central nervous system anomalies, limb deformities, hypoplastic lungs, edema, and abnormal facial features. NLS is genetically heterogeneous and can be caused by mutations in the genes encoding enzymes of the L-serine biosynthesis pathway.

UniProtKB/Swiss-Prot : 72 Neu-Laxova syndrome 1: 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 including 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.

Wikipedia : 73 Neu-Laxova syndrome (also known as Neu syndrome or Neu-Povysilov√° syndrome, abbreviated as NLS) is a... more...

Related Diseases for Neu-Laxova Syndrome 1

Diseases in the Neu-Laxova Syndrome 1 family:

Neu-Laxova Syndrome 2

Diseases related to Neu-Laxova Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 ectropion 30.7 PSAT1 PHGDH
2 serine deficiency 30.5 PSPH PSAT1 PHGDH
3 phosphoglycerate dehydrogenase deficiency 30.4 PSPH PSAT1 PHGDH
4 restrictive dermopathy, lethal 11.3
5 neu-laxova syndrome due to phosphoserine aminotransferase deficiency 11.3
6 neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency 11.3
7 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency 11.3
8 hyperoxaluria, primary, type ii 11.3
9 neu-laxova syndrome 2 11.0
10 microcephaly 10.8
11 ichthyosis 10.7
12 lissencephaly 10.5
13 autosomal recessive disease 10.5
14 exophthalmos 10.5
15 polyhydramnios 10.4
16 congenital amyoplasia 10.4
17 hypertelorism 10.3
18 chromosome 2q35 duplication syndrome 10.3
19 neurometabolic disorder due to serine deficiency 10.3
20 acute promyelocytic leukemia 10.3
21 cleft palate, isolated 10.2
22 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
23 anencephaly 10.2
24 cryptorchidism, unilateral or bilateral 10.2
25 clubfoot 10.2
26 cleft lip 10.2
27 cleft lip/palate 10.2
28 lateral sclerosis 10.2
29 amyotrophic lateral sclerosis 1 10.2
30 leukemia, acute myeloid 10.2
31 granulomatous amebic encephalitis 10.1 PSAT1 PHGDH
32 retinoblastoma 10.1
33 severe combined immunodeficiency 10.1
34 neural tube defects 10.1
35 renal hypodysplasia/aplasia 1 10.1
36 dandy-walker syndrome 10.1
37 hydrops fetalis, nonimmune 10.1
38 lymphatic malformation 7 10.1
39 hereditary lymphedema i 10.1
40 cerebellar hypoplasia 10.1
41 microlissencephaly 10.1
42 keratosis 10.1
43 ectodermal dysplasia 10.1
44 osteochondrodysplasia 10.1
45 cystic lymphangioma 10.1
46 pachygyria 10.1
47 immune hydrops fetalis 10.1
48 central nervous system malformation 10.1
49 phosphoserine phosphatase deficiency 10.1 PSPH PHGDH
50 helix syndrome 10.0

Graphical network of the top 20 diseases related to Neu-Laxova Syndrome 1:



Diseases related to Neu-Laxova Syndrome 1

Symptoms & Phenotypes for Neu-Laxova Syndrome 1

Human phenotypes related to Neu-Laxova Syndrome 1:

58 31 (show top 50) (show all 94)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thick vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0012471
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 ichthyosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008064
4 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
5 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100679
6 sloping forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000340
7 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
8 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
9 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
10 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
11 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
12 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
13 dandy-walker malformation 58 31 frequent (33%) Frequent (79-30%) HP:0001305
14 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
15 abnormality of the philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000288
16 decreased fetal movement 58 31 frequent (33%) Frequent (79-30%) HP:0001558
17 absent septum pellucidum 58 31 frequent (33%) Frequent (79-30%) HP:0001331
18 trismus 58 31 frequent (33%) Frequent (79-30%) HP:0000211
19 ambiguous genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000062
20 polymicrogyria 58 31 frequent (33%) Frequent (79-30%) HP:0002126
21 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
22 large hands 58 31 frequent (33%) Frequent (79-30%) HP:0001176
23 pachygyria 58 31 frequent (33%) Frequent (79-30%) HP:0001302
24 muscular dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003560
25 broad foot 58 31 frequent (33%) Frequent (79-30%) HP:0001769
26 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
27 external genital hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0003241
28 muscle spasm 58 31 frequent (33%) Frequent (79-30%) HP:0003394
29 opisthotonus 58 31 frequent (33%) Frequent (79-30%) HP:0002179
30 aplasia/hypoplasia involving the skeletal musculature 58 31 frequent (33%) Frequent (79-30%) HP:0001460
31 macrogyria 58 31 frequent (33%) Frequent (79-30%) HP:0007227
32 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
33 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
34 osteopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000938
35 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
36 rickets 58 31 occasional (7.5%) Occasional (29-5%) HP:0002748
37 prominent occiput 58 31 occasional (7.5%) Occasional (29-5%) HP:0000269
38 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
39 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
40 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
41 osteomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002749
42 spina bifida 58 31 occasional (7.5%) Occasional (29-5%) HP:0002414
43 micromelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002983
44 arthrogryposis multiplex congenita 58 31 occasional (7.5%) Occasional (29-5%) HP:0002804
45 bifid uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000193
46 pterygium 58 31 occasional (7.5%) Occasional (29-5%) HP:0001059
47 submucous cleft hard palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000176
48 pulmonary hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002089
49 abnormality of cardiovascular system morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0030680
50 abnormal nasolacrimal system morphology 31 occasional (7.5%) HP:0000614

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
patent foramen ovale

Neurologic Central Nervous System:
dandy-walker malformation
spina bifida
cerebellar hypoplasia
lissencephaly
hydranencephaly
more
Skeletal Feet:
toe syndactyly
vertical talus
calcaneovalgus
puffiness of feet

Respiratory Lung:
pulmonary hypoplasia

Genitourinary Internal Genitalia Female:
bifid uterus

Head And Neck Ears:
large ears

Head And Neck Nose:
flattened nose

Skeletal:
poorly mineralized bones

Head And Neck Eyes:
cataract
hypertelorism
microphthalmia
absent eyelashes
protruding eyes
more
Head And Neck Mouth:
cleft palate
cleft lip
thick lips
round, gaping mouth

Head And Neck Face:
micrognathia
sloping forehead

Cardiovascular Vascular:
patent ductus arteriosus
transposition of great vessels

Skeletal Hands:
finger syndactyly
camptodactyly
clinodactyly
puffiness of hands

Skin Nails Hair Hair:
absent eyelashes
absent scalp hair

Genitourinary Kidneys:
renal agenesis

Skin Nails Hair Skin:
yellow subcutaneous tissue covered by thin, scaly skin
generalized tissue edema

Skeletal Limbs:
short limbs
pterygia
flexion contractures of joints

Growth Other:
prenatal onset growth retardation

Clinical features from OMIM®:

256520 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Neu-Laxova Syndrome 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.1 CDK4 CDK6 EIF2AK4 EIF4EBP1 MAPK8 SPTLC1

MGI Mouse Phenotypes related to Neu-Laxova Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 CDK4 CDK6 EIF2AK4 EIF4EBP1 MAPK8 PHGDH
2 homeostasis/metabolism MP:0005376 9.97 CDK4 EIF2AK4 EIF4EBP1 MAPK8 PHGDH PPP6C
3 mortality/aging MP:0010768 9.96 CDK4 CDK6 EIF2AK4 EIF4EBP1 MAPK8 PHGDH
4 embryo MP:0005380 9.95 CDK4 CDK6 MAPK8 PHGDH PPP6C PSPH
5 muscle MP:0005369 9.63 CDK4 CDK6 EIF2AK4 EIF4EBP1 MAPK8 PSPH
6 neoplasm MP:0002006 9.35 CDK4 CDK6 MAPK8 PHGDH PPP6C
7 nervous system MP:0003631 9.23 CDK4 CDK6 EIF2AK4 MAPK8 PHGDH PSAT1

Drugs & Therapeutics for Neu-Laxova Syndrome 1

Search Clinical Trials , NIH Clinical Center for Neu-Laxova Syndrome 1

Genetic Tests for Neu-Laxova Syndrome 1

Genetic tests related to Neu-Laxova Syndrome 1:

# Genetic test Affiliating Genes
1 Neu-Laxova Syndrome 1 29 PHGDH
2 Neu-Laxova Syndrome 29

Anatomical Context for Neu-Laxova Syndrome 1

MalaCards organs/tissues related to Neu-Laxova Syndrome 1:

40
Eye, Placenta, Skeletal Muscle, Uterus, Myeloid, Colon, Lung

Publications for Neu-Laxova Syndrome 1

Articles related to Neu-Laxova Syndrome 1:

(show top 50) (show all 83)
# Title Authors PMID Year
1
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. 57 6 61
25152457 2014
2
Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. 57 61 6
24836451 2014
3
Neu-Laxova syndrome: A new patient with detailed antenatal and post-natal findings. 57 61
21108408 2010
4
Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review. 61 57
14994231 2004
5
Qualitative analysis of fetal movement patterns in the Neu-Laxova syndrome. 61 57
8843479 1996
6
New manifestations in an infant with Neu Laxova syndrome. 61 57
7625453 1995
7
Neu-Laxova syndrome: report of a case from Turkey. 61 57
8375108 1993
8
Neu-Laxova syndrome: prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations. 57 61
1605256 1992
9
Neu Laxova syndrome in two Egyptian families. 61 57
1951459 1991
10
New manifestations of Neu-Laxova syndrome. 57 61
2405670 1990
11
Cerebral abnormalities in the Neu-Laxova syndrome. 61 57
3055985 1988
12
Neu-Laxova syndrome: report of a case and comments. 61 57
3314507 1987
13
A case of the Neu-Laxova syndrome: prenatal ultrasonographic monitoring in the third trimester and the histopathological findings. 61 57
3544847 1987
14
Neu-Laxova syndrome: two further case reports and comments on proposed subclassification. 61 57
6660255 1983
15
Comments on Dr. Curry's classification of the Neu-Laxova syndrome. 61 57
6881219 1983
16
Further comments on the Neu-Laxova syndrome. 61 57
6891563 1982
17
The Neu-Laxova syndrome: comments on syndrome identification. 57 61
6891564 1982
18
Comments on the Neu-Laxova syndrome and CAD complex. 61 57
7258229 1981
19
Brief clinical observations: the Neu-Laxova syndrome--a distinct entity. 57 61
225952 1979
20
[Neu-Laxova syndrome: Three case reports and a review of the literature]. 61 20
27475004 2016
21
Serine biosynthesis and transport defects. 61 20
27161889 2016
22
On the phenotypic spectrum of serine biosynthesis defects. 61 20
26960553 2016
23
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 6
19235232 2009
24
Neu-Laxova syndrome: a case report and review of the literature. 20 61
16987270 2006
25
Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures. 57
7241531 1981
26
Cerebroarthrodigital syndrome: a newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia. 57
7395897 1980
27
[Fatal syndrome of multiple malformations in 3 siblings]. 57
1277373 1976
28
A further example of a lethal autosomal recessive condition in sibs. 57
4671862 1972
29
A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings. 57
5547878 1971
30
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders. 61
32579715 2020
31
A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1. 61
32077105 2020
32
Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report. 61
32196970 2020
33
Novel and recurrent PHGDH and PSAT1 mutations in Chinese patients with Neu-Laxova syndrome. 61
31903955 2019
34
Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis. 61
30838783 2019
35
Neu Laxova syndrome. 61
30706883 2019
36
Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency. 61
30348640 2018
37
Prenatal genetic diagnosis of Neu-Laxova syndrome. 61
28903583 2018
38
A New Case of Neu-Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia. 61
29862217 2018
39
Neu-Laxova Syndrome: An Unusual Association with Kyphosis. 61
28272663 2018
40
Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges. 61
28135894 2017
41
Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability. 61
25913727 2015
42
Neu-Laxova syndrome: a case report. 61
24584393 2014
43
A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity? 61
24371398 2013
44
Rare manifestations of Neu-Laxova syndrome. 61
22233503 2012
45
Neu-Laxova syndrome: a prenatal diagnosis. 61
22268252 2011
46
A spectrum of phenotypical expression OF Neu-Laxova syndrome: Three case reports and a review of the literature. 61
20334486 2010
47
Prenatal diagnosis and postmortem findings of Neu-laxova syndrome. 61
24591943 2010
48
Neu-Laxova syndrome in an appropriate for gestational age newborn. 61
19052411 2008
49
Neu-Laxova syndrome, grossly appearing normal on 20 weeks ultrasonographic scan, that manifested late in pregnancy: a case report. 61
17406877 2007
50
A rare cause of polyhydramnios: Neu-Laxova syndrome. 61
16923700 2006

Variations for Neu-Laxova Syndrome 1

ClinVar genetic disease variations for Neu-Laxova Syndrome 1:

6 (show all 45)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PHGDH NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) SNV Pathogenic 139534 rs587777770 GRCh37: 1:120269633-120269633
GRCh38: 1:119727010-119727010
2 PHGDH NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) SNV Pathogenic 139535 rs587777483 GRCh37: 1:120269703-120269703
GRCh38: 1:119727080-119727080
3 PHGDH NM_006623.4(PHGDH):c.793G>A (p.Glu265Lys) SNV Pathogenic 156360 rs587777774 GRCh37: 1:120279737-120279737
GRCh38: 1:119737114-119737114
4 PHGDH NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro) SNV Pathogenic 156361 rs587777775 GRCh37: 1:120279800-120279800
GRCh38: 1:119737177-119737177
5 PHGDH NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser) SNV Pathogenic 3871 rs267606948 GRCh37: 1:120284440-120284440
GRCh38: 1:119741817-119741817
6 PHGDH NM_006623.4(PHGDH):c.1273G>A (p.Val425Met) SNV Pathogenic 3868 rs121907988 GRCh37: 1:120285493-120285493
GRCh38: 1:119742870-119742870
7 PSAT1 NM_058179.4(PSAT1):c.296C>T (p.Ala99Val) SNV Pathogenic 156364 rs587777778 GRCh37: 9:80919755-80919755
GRCh38: 9:78304839-78304839
8 PSAT1 NM_058179.4(PSAT1):c.536C>T (p.Ser179Leu) SNV Pathogenic 156363 rs587777777 GRCh37: 9:80921368-80921368
GRCh38: 9:78306452-78306452
9 PSAT1 NM_058179.4(PSAT1):c.1023_1027delinsAGACCT (p.Arg342fs) Indel Pathogenic 156362 rs587777776 GRCh37: 9:80943912-80943916
GRCh38: 9:78328996-78329000
10 PSAT1 NM_058179.4(PSAT1):c.178del (p.Val60fs) Deletion Pathogenic 578992 rs1564012541 GRCh37: 9:80916926-80916926
GRCh38: 9:78302010-78302010
11 PSAT1 NM_058179.4(PSAT1):c.420G>A (p.Trp140Ter) SNV Pathogenic 654599 rs1008314756 GRCh37: 9:80921252-80921252
GRCh38: 9:78306336-78306336
12 PHGDH NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) SNV Pathogenic/Likely pathogenic 522743 rs769256568 GRCh37: 1:120283093-120283093
GRCh38: 1:119740470-119740470
13 PHGDH NM_006623.4(PHGDH):c.781G>A (p.Val261Met) SNV Likely pathogenic 3872 rs267606947 GRCh37: 1:120278055-120278055
GRCh38: 1:119735432-119735432
14 PHGDH NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) SNV Likely pathogenic 496330 rs587731325 GRCh37: 1:120286532-120286532
GRCh38: 1:119743909-119743909
15 PHGDH NM_006623.4(PHGDH):c.916A>G (p.Met306Val) SNV Uncertain significance 292316 rs587648058 GRCh37: 1:120279860-120279860
GRCh38: 1:119737237-119737237
16 PHGDH NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp) SNV Uncertain significance 581769 rs139063843 GRCh37: 1:120277956-120277956
GRCh38: 1:119735333-119735333
17 PHGDH NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp) SNV Uncertain significance 3870 rs267606949 GRCh37: 1:120269520-120269520
GRCh38: 1:119726897-119726897
18 PHGDH NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) SNV Uncertain significance 139535 rs587777483 GRCh37: 1:120269703-120269703
GRCh38: 1:119727080-119727080
19 PHGDH NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys) SNV Uncertain significance 587637 rs147066269 GRCh37: 1:120277980-120277980
GRCh38: 1:119735357-119735357
20 PSAT1 NM_058179.4(PSAT1):c.868G>A (p.Val290Ile) SNV Uncertain significance 661070 rs200049723 GRCh37: 9:80932719-80932719
GRCh38: 9:78317803-78317803
21 PHGDH NM_006623.4(PHGDH):c.262G>A (p.Ala88Thr) SNV Uncertain significance 1029061 GRCh37: 1:120263916-120263916
GRCh38: 1:119721293-119721293
22 PHGDH NM_006623.4(PHGDH):c.802C>T (p.Arg268Trp) SNV Uncertain significance 1029062 GRCh37: 1:120279746-120279746
GRCh38: 1:119737123-119737123
23 PHGDH NM_006623.4(PHGDH):c.910G>A (p.Val304Met) SNV Uncertain significance 1029063 GRCh37: 1:120279854-120279854
GRCh38: 1:119737231-119737231
24 PSAT1 NM_058179.4(PSAT1):c.420G>T (p.Trp140Cys) SNV Uncertain significance 976478 GRCh37: 9:80921252-80921252
GRCh38: 9:78306336-78306336
25 PSAT1 NM_058179.4(PSAT1):c.955dup (p.Arg319fs) Duplication Uncertain significance 976479 GRCh37: 9:80943046-80943047
GRCh38: 9:78328130-78328131
26 PSAT1 NM_058179.4(PSAT1):c.296_297delinsTG (p.Ala99Val) Indel Uncertain significance 372478 rs1057517807 GRCh37: 9:80919755-80919756
GRCh38: 9:78304839-78304840
27 PSAT1 NM_058179.4(PSAT1):c.481G>A (p.Glu161Lys) SNV Uncertain significance 966566 GRCh37: 9:80921313-80921313
GRCh38: 9:78306397-78306397
28 PSAT1 NM_058179.4(PSAT1):c.395C>G (p.Thr132Arg) SNV Uncertain significance 569328 rs1564013551 GRCh37: 9:80919854-80919854
GRCh38: 9:78304938-78304938
29 PSAT1 NM_058179.4(PSAT1):c.1097A>G (p.Glu366Gly) SNV Uncertain significance 848411 GRCh37: 9:80943986-80943986
GRCh38: 9:78329070-78329070
30 PSAT1 NM_058179.4(PSAT1):c.181C>T (p.Arg61Trp) SNV Uncertain significance 849232 GRCh37: 9:80916929-80916929
GRCh38: 9:78302013-78302013
31 PSAT1 NM_058179.4(PSAT1):c.851A>G (p.Asn284Ser) SNV Uncertain significance 850530 GRCh37: 9:80932702-80932702
GRCh38: 9:78317786-78317786
32 PSAT1 NM_058179.4(PSAT1):c.334G>A (p.Ala112Thr) SNV Uncertain significance 936099 GRCh37: 9:80919793-80919793
GRCh38: 9:78304877-78304877
33 PSAT1 NM_058179.4(PSAT1):c.370G>A (p.Val124Ile) SNV Uncertain significance 914104 GRCh37: 9:80919829-80919829
GRCh38: 9:78304913-78304913
34 PSAT1 NM_058179.4(PSAT1):c.794C>T (p.Ala265Val) SNV Uncertain significance 971847 GRCh37: 9:80932645-80932645
GRCh38: 9:78317729-78317729
35 PSAT1 NM_058179.4(PSAT1):c.511G>C (p.Ala171Pro) SNV Uncertain significance 976947 GRCh37: 9:80921343-80921343
GRCh38: 9:78306427-78306427
36 PSAT1 NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys) SNV Likely benign 542039 rs113824905 GRCh37: 9:80943013-80943013
GRCh38: 9:78328097-78328097
37 PSAT1 NM_058179.4(PSAT1):c.367A>G (p.Ile123Val) SNV Likely benign 367455 rs116577685 GRCh37: 9:80919826-80919826
GRCh38: 9:78304910-78304910
38 PSAT1 NM_058179.4(PSAT1):c.795G>A (p.Ala265=) SNV Likely benign 786392 rs184256039 GRCh37: 9:80932646-80932646
GRCh38: 9:78317730-78317730
39 PSAT1 NM_058179.4(PSAT1):c.393T>C (p.Tyr131=) SNV Likely benign 779257 rs370268538 GRCh37: 9:80919852-80919852
GRCh38: 9:78304936-78304936
40 PSAT1 NM_058179.4(PSAT1):c.468G>A (p.Thr156=) SNV Likely benign 728437 rs200962308 GRCh37: 9:80921300-80921300
GRCh38: 9:78306384-78306384
41 PSAT1 NM_058179.4(PSAT1):c.270C>G (p.Leu90=) SNV Likely benign 764428 rs775726256 GRCh37: 9:80919729-80919729
GRCh38: 9:78304813-78304813
42 PSAT1 NM_058179.4(PSAT1):c.696G>A (p.Val232=) SNV Benign 712336 rs140331840 GRCh37: 9:80923455-80923455
GRCh38: 9:78308539-78308539
43 PSAT1 NM_058179.4(PSAT1):c.571-4dup Duplication Benign 367457 rs536197677 GRCh37: 9:80923321-80923322
GRCh38: 9:78308405-78308406
44 PSAT1 NM_058179.4(PSAT1):c.1059C>T (p.Asp353=) SNV Benign 367461 rs115639310 GRCh37: 9:80943948-80943948
GRCh38: 9:78329032-78329032
45 PSAT1 NM_058179.4(PSAT1):c.348G>A (p.Lys116=) SNV Benign 542040 rs41277897 GRCh37: 9:80919807-80919807
GRCh38: 9:78304891-78304891

UniProtKB/Swiss-Prot genetic disease variations for Neu-Laxova Syndrome 1:

72
# Symbol AA change Variation ID SNP ID
1 PHGDH p.Gly140Arg VAR_071819 rs587777770
2 PHGDH p.Arg163Gln VAR_071820 rs587777483

Expression for Neu-Laxova Syndrome 1

Search GEO for disease gene expression data for Neu-Laxova Syndrome 1.

Pathways for Neu-Laxova Syndrome 1

Pathways related to Neu-Laxova Syndrome 1 according to KEGG:

36
# Name Kegg Source Accession
1 Glycine, serine and threonine metabolism hsa00260
2 Vitamin B6 metabolism hsa00750

Pathways related to Neu-Laxova Syndrome 1 according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.6 MAPK8 EIF4EBP1 CDK6 CDK4
2
Show member pathways
12.42 MAPK8 EIF2AK4 CDK6 CDK4
3
Show member pathways
11.98 PSPH PSAT1 PHGDH
4 11.74 EIF4EBP1 CDK6 CDK4
5
Show member pathways
11.65 PSPH PSAT1 PHGDH
6 11.57 SUPT20H MAPK8 EIF2AK4
7
Show member pathways
11.16 MAPK8 CDK6 CDK4
8 11.14 CDK6 CDK4
9 10.96 CDK6 CDK4
10 10.94 CDK6 CDK4
11
Show member pathways
10.85 PSPH PSAT1 PHGDH
12
Show member pathways
10.41 PSPH PSAT1 PHGDH

GO Terms for Neu-Laxova Syndrome 1

Cellular components related to Neu-Laxova Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.28 PSPH PSAT1 PPP6C PHGDH MAPK8 EIF4EBP1
2 mediator complex GO:0016592 9.16 CDK6 CDK4
3 cyclin-dependent protein kinase holoenzyme complex GO:0000307 8.96 CDK6 CDK4

Biological processes related to Neu-Laxova Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.76 PPP6C EIF2AK4 CDK6 CDK4
2 protein phosphorylation GO:0006468 9.73 MAPK8 EIF2AK4 CDK6 CDK4
3 regulation of gene expression GO:0010468 9.62 PHGDH MAPK8 CDK6 CDK4
4 cellular response to amino acid starvation GO:0034198 9.48 MAPK8 EIF2AK4
5 response to testosterone GO:0033574 9.4 PSPH CDK4
6 negative regulation of translational initiation GO:0045947 9.37 EIF4EBP1 EIF2AK4
7 cellular amino acid biosynthetic process GO:0008652 9.33 PSPH PSAT1 PHGDH
8 L-serine metabolic process GO:0006563 9.26 PSPH PHGDH
9 G1/S transition of mitotic cell cycle GO:0000082 9.26 PPP6C EIF4EBP1 CDK6 CDK4
10 L-serine biosynthetic process GO:0006564 8.8 PSPH PSAT1 PHGDH

Molecular functions related to Neu-Laxova Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.73 SPTLC1 PSAT1 MAPK8 EIF2AK4 CDK6 CDK4
2 kinase activity GO:0016301 9.71 MAPK8 EIF2AK4 CDK6 CDK4
3 protein kinase activity GO:0004672 9.46 MAPK8 EIF2AK4 CDK6 CDK4
4 cyclin binding GO:0030332 9.37 CDK6 CDK4
5 cyclin-dependent protein serine/threonine kinase activity GO:0004693 9.32 CDK6 CDK4
6 protein serine/threonine kinase activity GO:0004674 9.26 MAPK8 EIF2AK4 CDK6 CDK4
7 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 8.62 CDK6 CDK4

Sources for Neu-Laxova Syndrome 1

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