MCID: NLX004
MIFTS: 49

Neu-Laxova Syndrome 1

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

Aliases & Classifications for Neu-Laxova Syndrome 1

MalaCards integrated aliases for Neu-Laxova Syndrome 1:

Name: Neu-Laxova Syndrome 1 57 12 75 29 6
Neu-Laxova Syndrome 57 59 29 40 73
Neu Laxova Syndrome 76 53
Nls1 57 75
Nls 57 53
3-Phosphoglycerate Dehydrogenase Deficiency, Neonatal Form 59
Neu-Laxova Syndrome; Nls 57

Characteristics:

Orphanet epidemiological data:

59
neu-laxova syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: infantile,stillbirth;

OMIM:

57
Miscellaneous:
polyhydramnios
short umbilical cord
small placenta
stillborn
decreased fetal activity
most patients are stillborn or die in immediate neonatal period

Inheritance:
autosomal recessive


HPO:

32
neu-laxova syndrome 1:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neu-Laxova Syndrome 1

NIH Rare Diseases : 53 Neu Laxova syndrome (NLS) is a genetic disorder affecting many parts of the body. Babies born with NLS usually grow poorly during the pregnancy (intrauterine growth restriction). At birth, they will 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 neu-laxova syndrome 2 and noonan-like/multiple giant cell lesion syndrome. An important gene associated with Neu-Laxova Syndrome 1 is PHGDH (Phosphoglycerate Dehydrogenase), and among its related pathways/superpathways are Carbon metabolism and One carbon pool by folate. The drugs Dopamine and Mazindol have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and eye, and related phenotypes are hypertelorism and osteopenia

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)

UniProtKB/Swiss-Prot : 75 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 : 76 Neu–Laxova syndrome (also known as Neu syndrome or Neu-Povysilová syndrome, abbreviated as NLS) is a... more...

Related Diseases for Neu-Laxova Syndrome 1

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 neu-laxova syndrome 2 11.0
2 noonan-like/multiple giant cell lesion syndrome 10.9
3 retinoblastoma 10.0
4 lymphoma 10.0
5 cerebritis 9.9
6 alzheimer disease 9.8
7 bladder cancer 9.8
8 celiac disease 1 9.8
9 mammographic density 9.8
10 b-cell lymphomas 9.8
11 cerebral palsy 9.8
12 diffuse large b-cell lymphoma 9.8
13 sarcoma 9.8
14 hypermobility syndrome 9.8
15 neuronitis 9.8
16 cerebral visual impairment 9.8
17 granulomatous amebic encephalitis 9.7 PHGDH PSAT1
18 phosphoserine aminotransferase deficiency 9.5 PHGDH PSAT1
19 phosphoglycerate dehydrogenase deficiency 9.2 LOC105378936 PHGDH
20 serine deficiency 9.2 PHGDH PSAT1

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
cataract
microphthalmia
absent eyelashes
protruding eyes
more
Skeletal Hands:
finger syndactyly
clinodactyly
camptodactyly
puffiness of hands

Head And Neck Mouth:
cleft palate
cleft lip
thick lips
round, gaping mouth

Cardiovascular Vascular:
patent ductus arteriosus
transposition of great vessels

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

Skeletal Feet:
toe syndactyly
vertical talus
calcaneovalgus
puffiness of feet

Genitourinary Kidneys:
renal agenesis

Head And Neck Ears:
large ears

Skeletal Limbs:
short limbs
pterygia
flexion contractures of joints

Growth Other:
prenatal onset growth retardation

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

Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia
sloping forehead

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Neurologic Central Nervous System:
cerebellar hypoplasia
spina bifida
dandy-walker malformation
lissencephaly
hydranencephaly
more
Skin Nails Hair Hair:
absent eyelashes
absent scalp hair

Respiratory Lung:
pulmonary hypoplasia

Genitourinary Internal Genitalia Female:
bifid uterus

Head And Neck Nose:
flattened nose

Skeletal:
poorly mineralized bones


Clinical features from OMIM:

256520

Human phenotypes related to Neu-Laxova Syndrome 1:

59 32 (show top 50) (show all 93)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 osteopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000938
3 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
4 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
5 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
6 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
7 thick vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0012471
8 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
9 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
10 rickets 59 32 occasional (7.5%) Occasional (29-5%) HP:0002748
11 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000939
12 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
13 cleft palate 59 32 Occasional (29-5%) HP:0000175
14 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
15 retrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000278
16 micromelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002983
17 lack of skin elasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0100679
18 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
19 prominent occiput 59 32 occasional (7.5%) Occasional (29-5%) HP:0000269
20 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
21 arthrogryposis multiplex congenita 59 32 occasional (7.5%) Occasional (29-5%) HP:0002804
22 abnormality of the eyelashes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000499
23 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
24 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
25 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
26 muscle cramps 59 32 frequent (33%) Frequent (79-30%) HP:0003394
27 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
28 spina bifida 59 32 occasional (7.5%) Occasional (29-5%) HP:0002414
29 osteomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002749
30 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
31 absent septum pellucidum 59 32 frequent (33%) Frequent (79-30%) HP:0001331
32 decreased fetal movement 59 32 frequent (33%) Frequent (79-30%) HP:0001558
33 ambiguous genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0000062
34 trismus 59 32 frequent (33%) Frequent (79-30%) HP:0000211
35 pachygyria 59 32 frequent (33%) Frequent (79-30%) HP:0001302
36 polymicrogyria 59 32 frequent (33%) Frequent (79-30%) HP:0002126
37 large hands 59 32 frequent (33%) Frequent (79-30%) HP:0001176
38 sloping forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000340
39 dandy-walker malformation 59 32 frequent (33%) Frequent (79-30%) HP:0001305
40 muscular dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003560
41 lissencephaly 59 32 Frequent (79-30%) HP:0001339
42 bifid uvula 59 32 occasional (7.5%) Occasional (29-5%) HP:0000193
43 pterygium 59 32 occasional (7.5%) Occasional (29-5%) HP:0001059
44 abnormality of cardiovascular system morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0030680
45 broad foot 32 59 frequent (33%) Frequent (79-30%) HP:0001769
46 abnormality of the philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000288
47 submucous cleft hard palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000176
48 pulmonary hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002089
49 opisthotonus 59 32 frequent (33%) Frequent (79-30%) HP:0002179
50 aplasia/hypoplasia involving the skeletal musculature 59 32 frequent (33%) Frequent (79-30%) HP:0001460

Drugs & Therapeutics for Neu-Laxova Syndrome 1

Drugs for Neu-Laxova Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
2
Mazindol Approved, Investigational Phase 2 22232-71-9 4020
3 Adrenergic Agents Phase 2
4 Central Nervous System Stimulants Phase 2
5 Dopamine Agents Phase 2
6 Dopamine Uptake Inhibitors Phase 2
7 Neurotransmitter Agents Phase 2
8 Neurotransmitter Uptake Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mazindol Controlled Release in Adults With Attention Deficit Hyperactivity Disorder (ADHD) Completed NCT02808104 Phase 2 mazindol

Search 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 29
2 Neu-Laxova Syndrome 1 29 PHGDH

Anatomical Context for Neu-Laxova Syndrome 1

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

41
Lung, Skin, Eye, Brain, Kidney, Heart, Testes

Publications for Neu-Laxova Syndrome 1

Articles related to Neu-Laxova Syndrome 1:

(show top 50) (show all 55)
# Title Authors Year
1
A New Case of Neu-Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia. ( 29862217 )
2018
2
[Neu-Laxova syndrome: Three case reports and a review of the literature]. ( 27475004 )
2016
3
Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability. ( 25913727 )
2015
4
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. ( 25152457 )
2014
5
Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. ( 24836451 )
2014
6
Neu-Laxova syndrome: a case report. ( 24584393 )
2014
7
A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity? ( 24371398 )
2013
8
Rare manifestations of Neu-Laxova syndrome. ( 22233503 )
2012
9
Neu-Laxova syndrome: a prenatal diagnosis. ( 22268252 )
2011
10
Prenatal diagnosis and postmortem findings of Neu-laxova syndrome. ( 24591943 )
2010
11
Neu-Laxova syndrome: A new patient with detailed antenatal and post-natal findings. ( 21108408 )
2010
12
A spectrum of phenotypical expression OF Neu-Laxova syndrome: Three case reports and a review of the literature. ( 20334486 )
2010
13
Neu-Laxova syndrome in an appropriate for gestational age newborn. ( 19052411 )
2008
14
Neu-Laxova syndrome, grossly appearing normal on 20 weeks ultrasonographic scan, that manifested late in pregnancy: a case report. ( 17406877 )
2007
15
A rare cause of polyhydramnios: Neu-Laxova syndrome. ( 16923700 )
2006
16
Neu-Laxova syndrome: a case report and review of the literature. ( 16987270 )
2006
17
Evaluation of a fetus with Neu-Laxova syndrome through prenatal, clinical, and pathological findings. ( 15824491 )
2005
18
Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review. ( 14994231 )
2004
19
Lethal arthrogryposis with icthyosis: overlap with Neu-Laxova syndrome, restrictive dermopathy and harlequin fetus. ( 15057131 )
2004
20
Neu-Laxova syndrome: a case report. ( 12558841 )
2003
21
What syndrome is this? Neu-Laxova syndrome. ( 12558853 )
2003
22
Second trimester diagnosis of Neu Laxova syndrome. ( 12533807 )
2003
23
Prenatal diagnosis of Neu-Laxova syndrome: a case report. ( 11895570 )
2002
24
Early second trimester prenatal diagnosis of Neu-Laxova syndrome. ( 11857616 )
2002
25
Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome. ( 11977163 )
2002
26
Early ultrasound diagnosis of Neu-Laxova syndrome. ( 11494295 )
2001
27
Prenatal sonographic diagnosis of Neu-Laxova syndrome. ( 11745866 )
2001
28
Neu-Laxova syndrome. ( 10713860 )
1999
29
A Japanese case of Neu-Laxova syndrome. ( 9575678 )
1998
30
Extreme microcephaly, severe growth and mental retardation, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome? ( 9354840 )
1997
31
Qualitative analysis of fetal movement patterns in the Neu-Laxova syndrome. ( 8843479 )
1996
32
Neu-Laxova syndrome: pathological evaluation of a fetus and review of the literature. ( 8736598 )
1995
33
New manifestations in an infant with Neu Laxova syndrome. ( 7625453 )
1995
34
Sonographic diagnosis of Neu-Laxova syndrome. ( 8294578 )
1994
35
Fetal ultrasonographic detection of hypodontia in the Neu-Laxova syndrome. ( 8227398 )
1993
36
Disorder of cerebellar foliation in Walker's lissencephaly and neu-laxova syndrome. ( 8229082 )
1993
37
Neu-Laxova syndrome: report of a case from Turkey. ( 8375108 )
1993
38
Neu-Laxova syndrome: prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations. ( 1605256 )
1992
39
Echographic, radiological and anatomo-pathological evaluation of a foetus with Neu-Laxova syndrome. ( 1632748 )
1992
40
Neu Laxova syndrome in two Egyptian families. ( 1951459 )
1991
41
New manifestations of Neu-Laxova syndrome. ( 2405670 )
1990
42
Neu-Laxova syndrome: pathological, radiological, and prenatal findings in a stillborn female. ( 2650548 )
1989
43
Neu-Laxova syndrome: a case report. ( 3348318 )
1988
44
Cerebral abnormalities in the Neu-Laxova syndrome. ( 3055985 )
1988
45
The Neu-Laxova syndrome in female sibs: clinical and pathological features with prenatal diagnosis in the second sib. ( 3300330 )
1987
46
A case of the Neu-Laxova syndrome: prenatal ultrasonographic monitoring in the third trimester and the histopathological findings. ( 3544847 )
1987
47
Neu-Laxova syndrome: report of a case and comments. ( 3314507 )
1987
48
Elaboration of the phenotypic changes of the upper limbs in the Neu-Laxova syndrome. ( 3970062 )
1985
49
Comments on Dr. Curry's classification of the Neu-Laxova syndrome. ( 6881219 )
1983
50
Neu-Laxova syndrome: two further case reports and comments on proposed subclassification. ( 6660255 )
1983

Variations for Neu-Laxova Syndrome 1

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

75
# Symbol AA change Variation ID SNP ID
1 PHGDH p.Gly140Arg VAR_071819 rs587777770
2 PHGDH p.Arg163Gln VAR_071820 rs587777483

ClinVar genetic disease variations for Neu-Laxova Syndrome 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PHGDH NM_006623.3(PHGDH): c.418G> A (p.Gly140Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587777770 GRCh38 Chromosome 1, 119727010: 119727010
2 PHGDH NM_006623.3(PHGDH): c.418G> A (p.Gly140Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587777770 GRCh37 Chromosome 1, 120269633: 120269633
3 PHGDH NM_006623.3(PHGDH): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic rs587777483 GRCh37 Chromosome 1, 120269703: 120269703
4 PHGDH NM_006623.3(PHGDH): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic rs587777483 GRCh38 Chromosome 1, 119727080: 119727080
5 PHGDH NM_006623.3(PHGDH): c.793G> A (p.Glu265Lys) single nucleotide variant Pathogenic rs587777774 GRCh37 Chromosome 1, 120279737: 120279737
6 PHGDH NM_006623.3(PHGDH): c.793G> A (p.Glu265Lys) single nucleotide variant Pathogenic rs587777774 GRCh38 Chromosome 1, 119737114: 119737114
7 PHGDH NM_006623.3(PHGDH): c.856G> C (p.Ala286Pro) single nucleotide variant Pathogenic rs587777775 GRCh37 Chromosome 1, 120279800: 120279800
8 PHGDH NM_006623.3(PHGDH): c.856G> C (p.Ala286Pro) single nucleotide variant Pathogenic rs587777775 GRCh38 Chromosome 1, 119737177: 119737177
9 PHGDH NM_006623.3(PHGDH): c.1030C> T (p.Arg344Ter) single nucleotide variant Pathogenic rs769256568 GRCh38 Chromosome 1, 119740470: 119740470
10 PHGDH NM_006623.3(PHGDH): c.1030C> T (p.Arg344Ter) single nucleotide variant Pathogenic rs769256568 GRCh37 Chromosome 1, 120283093: 120283093

Expression for Neu-Laxova Syndrome 1

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

Pathways for Neu-Laxova Syndrome 1

GO Terms for Neu-Laxova Syndrome 1

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

# Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 8.96 PHGDH PSAT1
2 L-serine biosynthetic process GO:0006564 8.62 PHGDH PSAT1

Sources for Neu-Laxova Syndrome 1

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