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 53 12 71 28
Neu-Laxova Syndrome 53 55 28 69
Neu Laxova Syndrome 72 49
Nls1 53 71
Nls 53 49
3-Phosphoglycerate Dehydrogenase Deficiency, Neonatal Form 55
Neu-Laxova Syndrome; Nls 53

Characteristics:

Orphanet epidemiological data:

55
neu-laxova syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: infantile,stillbirth;

OMIM:

53
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:

31
neu-laxova syndrome 1:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neu-Laxova Syndrome 1

NIH Rare Diseases : 49 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.  Last updated: 1/29/2017

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, and has symptoms including opisthotonus, hypertelorism and osteopenia. 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.

OMIM : 53 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 : 71 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 : 72 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 bladder cancer 9.8
6 polykaryocytosis inducer 9.8
7 celiac disease 1 9.8
8 mammographic density 9.8
9 b-cell lymphomas 9.8
10 cerebral palsy 9.8
11 diffuse large b-cell lymphoma 9.8
12 sarcoma 9.8
13 hypermobility syndrome 9.8
14 cerebritis 9.8
15 neuronitis 9.8
16 cerebral visual impairment 9.8
17 granulomatous amebic encephalitis 9.6 PHGDH PSAT1
18 phosphoserine aminotransferase deficiency 9.6 PHGDH PSAT1
19 ectropion 9.5 PHGDH PSAT1
20 serine deficiency 9.4 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:

53
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

Genitourinary Internal Genitalia Male:
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:

55 31 (show top 50) (show all 92)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 opisthotonus 55 31 frequent (33%) Frequent (79-30%) HP:0002179
2 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
3 osteopenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000938
4 cerebral calcification 55 31 occasional (7.5%) Occasional (29-5%) HP:0002514
5 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
6 macrotia 55 31 frequent (33%) Frequent (79-30%) HP:0000400
7 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
8 thick vermilion border 55 31 hallmark (90%) Very frequent (99-80%) HP:0012471
9 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
10 ichthyosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008064
11 rickets 55 31 occasional (7.5%) Occasional (29-5%) HP:0002748
12 osteoporosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000939
13 skeletal muscle atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0003202
14 cleft palate 55 31 Occasional (29-5%) HP:0000175
15 micrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000347
16 retrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000278
17 micromelia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002983
18 lack of skin elasticity 55 31 hallmark (90%) Very frequent (99-80%) HP:0100679
19 everted lower lip vermilion 55 31 frequent (33%) Frequent (79-30%) HP:0000232
20 prominent occiput 55 31 occasional (7.5%) Occasional (29-5%) HP:0000269
21 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
22 arthrogryposis multiplex congenita 55 31 occasional (7.5%) Occasional (29-5%) HP:0002804
23 abnormality of the eyelashes 55 31 occasional (7.5%) Occasional (29-5%) HP:0000499
24 hypogonadism 55 31 frequent (33%) Frequent (79-30%) HP:0000135
25 cerebellar hypoplasia 55 31 frequent (33%) Frequent (79-30%) HP:0001321
26 depressed nasal ridge 55 31 frequent (33%) Frequent (79-30%) HP:0000457
27 muscle cramps 55 31 frequent (33%) Frequent (79-30%) HP:0003394
28 polyhydramnios 55 31 frequent (33%) Frequent (79-30%) HP:0001561
29 spina bifida 55 31 occasional (7.5%) Occasional (29-5%) HP:0002414
30 osteomalacia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002749
31 proptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000520
32 absent septum pellucidum 55 31 frequent (33%) Frequent (79-30%) HP:0001331
33 decreased fetal movement 55 31 frequent (33%) Frequent (79-30%) HP:0001558
34 ambiguous genitalia 55 31 frequent (33%) Frequent (79-30%) HP:0000062
35 trismus 55 31 frequent (33%) Frequent (79-30%) HP:0000211
36 pachygyria 55 31 frequent (33%) Frequent (79-30%) HP:0001302
37 polymicrogyria 55 31 frequent (33%) Frequent (79-30%) HP:0002126
38 large hands 55 31 frequent (33%) Frequent (79-30%) HP:0001176
39 sloping forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000340
40 dandy-walker malformation 55 31 frequent (33%) Frequent (79-30%) HP:0001305
41 muscular dystrophy 55 31 frequent (33%) Frequent (79-30%) HP:0003560
42 lissencephaly 55 31 frequent (33%) Frequent (79-30%) HP:0001339
43 bifid uvula 55 31 occasional (7.5%) Occasional (29-5%) HP:0000193
44 pterygium 55 31 occasional (7.5%) Occasional (29-5%) HP:0001059
45 abnormality of cardiovascular system morphology 55 31 occasional (7.5%) Occasional (29-5%) HP:0030680
46 broad foot 55 31 frequent (33%) Frequent (79-30%) HP:0001769
47 abnormality of the philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000288
48 submucous cleft hard palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000176
49 pulmonary hypoplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002089
50 aplasia/hypoplasia involving the skeletal musculature 55 31 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 28
2 Neu-Laxova Syndrome 1 28 PHGDH

Anatomical Context for Neu-Laxova Syndrome 1

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

38
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 53)
# Title Authors Year
1
Neu-Laxova syndrome: a case report. ( 24584393 )
2014
2
Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. ( 24836451 )
2014
3
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. ( 25152457 )
2014
4
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
5
Rare manifestations of Neu-Laxova syndrome. ( 22233503 )
2012
6
Neu-Laxova syndrome: a prenatal diagnosis. ( 22268252 )
2011
7
Prenatal diagnosis and postmortem findings of Neu-laxova syndrome. ( 24591943 )
2010
8
Neu-Laxova syndrome: A new patient with detailed antenatal and post-natal findings. ( 21108408 )
2010
9
A spectrum of phenotypical expression OF Neu-Laxova syndrome: Three case reports and a review of the literature. ( 20334486 )
2010
10
Neu-Laxova syndrome in an appropriate for gestational age newborn. ( 19052411 )
2008
11
Neu-Laxova syndrome, grossly appearing normal on 20 weeks ultrasonographic scan, that manifested late in pregnancy: a case report. ( 17406877 )
2007
12
A rare cause of polyhydramnios: Neu-Laxova syndrome. ( 16923700 )
2006
13
Neu-Laxova syndrome: a case report and review of the literature. ( 16987270 )
2006
14
Evaluation of a fetus with Neu-Laxova syndrome through prenatal, clinical, and pathological findings. ( 15824491 )
2005
15
Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review. ( 14994231 )
2004
16
Lethal arthrogryposis with icthyosis: overlap with Neu-Laxova syndrome, restrictive dermopathy and harlequin fetus. ( 15057131 )
2004
17
Neu-Laxova syndrome: a case report. ( 12558841 )
2003
18
Second trimester diagnosis of Neu Laxova syndrome. ( 12533807 )
2003
19
What syndrome is this? Neu-Laxova syndrome. ( 12558853 )
2003
20
Prenatal diagnosis of Neu-Laxova syndrome: a case report. ( 11895570 )
2002
21
Early second trimester prenatal diagnosis of Neu-Laxova syndrome. ( 11857616 )
2002
22
Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome. ( 11977163 )
2002
23
Prenatal sonographic diagnosis of Neu-Laxova syndrome. ( 11745866 )
2001
24
Early ultrasound diagnosis of Neu-Laxova syndrome. ( 11494295 )
2001
25
Neu-Laxova syndrome. ( 10713860 )
1999
26
A Japanese case of Neu-Laxova syndrome. ( 9575678 )
1998
27
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
28
Qualitative analysis of fetal movement patterns in the Neu-Laxova syndrome. ( 8843479 )
1996
29
New manifestations in an infant with Neu Laxova syndrome. ( 7625453 )
1995
30
Neu-Laxova syndrome: pathological evaluation of a fetus and review of the literature. ( 8736598 )
1995
31
Sonographic diagnosis of Neu-Laxova syndrome. ( 8294578 )
1994
32
Fetal ultrasonographic detection of hypodontia in the Neu-Laxova syndrome. ( 8227398 )
1993
33
Neu-Laxova syndrome: report of a case from Turkey. ( 8375108 )
1993
34
Disorder of cerebellar foliation in Walker's lissencephaly and neu-laxova syndrome. ( 8229082 )
1993
35
Neu-Laxova syndrome: prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations. ( 1605256 )
1992
36
Echographic, radiological and anatomo-pathological evaluation of a foetus with Neu-Laxova syndrome. ( 1632748 )
1992
37
Neu Laxova syndrome in two Egyptian families. ( 1951459 )
1991
38
New manifestations of Neu-Laxova syndrome. ( 2405670 )
1990
39
Neu-Laxova syndrome: pathological, radiological, and prenatal findings in a stillborn female. ( 2650548 )
1989
40
Cerebral abnormalities in the Neu-Laxova syndrome. ( 3055985 )
1988
41
Neu-Laxova syndrome: a case report. ( 3348318 )
1988
42
The Neu-Laxova syndrome in female sibs: clinical and pathological features with prenatal diagnosis in the second sib. ( 3300330 )
1987
43
Neu-Laxova syndrome: report of a case and comments. ( 3314507 )
1987
44
A case of the Neu-Laxova syndrome: prenatal ultrasonographic monitoring in the third trimester and the histopathological findings. ( 3544847 )
1987
45
Neu-Laxova syndrome: report of two cases. ( 3786261 )
1986
46
Elaboration of the phenotypic changes of the upper limbs in the Neu-Laxova syndrome. ( 3970062 )
1985
47
Comments on Dr. Curry's classification of the Neu-Laxova syndrome. ( 6881219 )
1983
48
Additional manifestations of the Neu-Laxova syndrome. ( 6876117 )
1983
49
Neu-Laxova syndrome: two further case reports and comments on proposed subclassification. ( 6660255 )
1983
50
The Neu-Laxova syndrome: comments on syndrome identification. ( 6891564 )
1982

Variations for Neu-Laxova Syndrome 1

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

71
# 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.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic rs587777483 GRCh37 Chromosome 1, 120269703: 120269703
3 PHGDH NM_006623.3(PHGDH): c.793G> A (p.Glu265Lys) single nucleotide variant Pathogenic rs587777774 GRCh37 Chromosome 1, 120279737: 120279737
4 PHGDH NM_006623.3(PHGDH): c.856G> C (p.Ala286Pro) single nucleotide variant Pathogenic rs587777775 GRCh37 Chromosome 1, 120279800: 120279800

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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67 TGDB
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70 UMLS via Orphanet
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