MCID: NLX004
MIFTS: 40

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 54 12 24 71 29
Neu-Laxova Syndrome 56 29 69
Nls1 24 71
3-Phosphoglycerate Dehydrogenase Deficiency, Neonatal Form 56
Neu Laxova Syndrome 50
Nls 50

Characteristics:

Orphanet epidemiological data:

56
neu-laxova syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: infantile,stillbirth;

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Neu-Laxova Syndrome 1

NIH Rare Diseases : 50 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 microcephaly, micrognathia and hypertelorism. 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.

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.

OMIM : 54
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)

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 21)
id Related Disease Score Top Affiliating Genes
1 neu-laxova syndrome 2 12.5
2 noonan-like/multiple giant cell lesion syndrome 10.8
3 hiv-1 10.1
4 skeletal dysplasias 10.0
5 skeletal dysplasia 10.0
6 lissencephaly 10.0
7 microcephaly 10.0
8 cerebritis 10.0
9 polyhydramnios 10.0
10 pachygyria 10.0
11 retinoblastoma 9.9
12 lymphoma 9.8
13 breast cancer 9.7
14 celiac disease 9.7
15 cerebral visual impairment 9.7
16 cerebral palsy 9.7
17 sarcoma 9.7
18 hypermobility syndrome 9.7
19 coenurosis 9.5 PHGDH PSAT1
20 communicating hydrocephalus 9.4 PHGDH PSAT1
21 vitamin b12 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:

54

Head And Neck- Head:
microcephaly

Head And Neck- Ears:
large ears

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

Cardiovascular- Vascular:
patent ductus arteriosus
transposition of great vessels

Neurologic- Central Nervous System:
cerebellar hypoplasia
hydranencephaly
spina bifida
lissencephaly
absence of corpus callosum
more
Skeletal- Hands:
camptodactyly
clinodactyly
finger syndactyly
puffiness of hands

Growth- Other:
prenatal onset growth retardation

Head And Neck- Nose:
flattened nose

Genitourinary- Kidneys:
renal agenesis

Skeletal- Limbs:
short limbs
flexion contractures of joints
pterygia

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

Head And Neck- Face:
micrognathia
sloping forehead

Head And Neck- Eyes:
hypertelorism
microphthalmia
cataract
protruding eyes
absent eyelids
more
Cardiovascular- Heart:
atrial septal defect
ventricular septal defect
patent foramen ovale

Respiratory- Lung:
pulmonary hypoplasia

Genitourinary- Internal Genitalia Male:
cryptorchidism

Head And Neck- Neck:
short neck

Skin Nails & Hair- Hair:
absent eyelashes
absent scalp hair

Genitourinary- Internal Genitalia Female:
bifid uterus

Skeletal:
poorly mineralized bones

Skeletal- Feet:
toe syndactyly
puffiness of feet
calcaneovalgus
vertical talus


Clinical features from OMIM:

256520

Human phenotypes related to Neu-Laxova Syndrome 1:

32 (show all 46)
id Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 micrognathia 32 HP:0000347
3 hypertelorism 32 HP:0000316
4 proptosis 32 HP:0000520
5 intrauterine growth retardation 32 HP:0001511
6 cleft palate 32 HP:0000175
7 patent ductus arteriosus 32 HP:0001643
8 pulmonary hypoplasia 32 HP:0002089
9 polyhydramnios 32 HP:0001561
10 short umbilical cord 32 HP:0001196
11 microphthalmia 32 HP:0000568
12 cerebellar hypoplasia 32 HP:0001321
13 sloping forehead 32 HP:0000340
14 cryptorchidism 32 HP:0000028
15 camptodactyly 32 HP:0012385
16 short neck 32 HP:0000470
17 cataract 32 HP:0000518
18 ventricular septal defect 32 HP:0001629
19 patent foramen ovale 32 HP:0001655
20 clinodactyly 32 HP:0030084
21 agenesis of corpus callosum 32 HP:0001274
22 hydranencephaly 32 HP:0002324
23 spina bifida 32 HP:0002414
24 absent eyelashes 32 HP:0000561
25 bifid uterus 32 HP:0000136
26 renal agenesis 32 HP:0000104
27 finger syndactyly 32 HP:0006101
28 toe syndactyly 32 HP:0001770
29 yellow subcutaneous tissue covered by thin, scaly skin 32 HP:0007525
30 lissencephaly 32 HP:0001339
31 dandy-walker malformation 32 HP:0001305
32 choroid plexus cyst 32 HP:0002190
33 small placenta 32 HP:0006266
34 generalized edema 32 HP:0007430
35 micromelia 32 HP:0002983
36 decreased fetal movement 32 HP:0001558
37 calcaneovalgus deformity 32 HP:0001848
38 thick lower lip vermilion 32 HP:0000179
39 transposition of the great arteries 32 HP:0001669
40 macrotia 32 HP:0000400
41 pterygium 32 HP:0001059
42 cleft upper lip 32 HP:0000204
43 rocker bottom foot 32 HP:0001838
44 radial deviation of finger 32 HP:0009466
45 ablepharon 32 HP:0011224
46 joint contracture of the hand 32 HP:0009473

Drugs & Therapeutics for Neu-Laxova Syndrome 1

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

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
2
Mazindol Approved 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:


id 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:

id Genetic test Affiliating Genes
1 Neu-Laxova Syndrome 29
2 Neu-Laxova Syndrome 1 29 24 PHGDH

Anatomical Context for Neu-Laxova Syndrome 1

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

39
Lung, Skin, Eye, Testes, Heart, Kidney, Brain

Publications for Neu-Laxova Syndrome 1

Variations for Neu-Laxova Syndrome 1

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

71
id 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
id 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:

id 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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