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Disease Profile
Neu Laxova syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Antenatal
ICD-10
Q87.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
NLS; 3-phosphoglycerate dehydrogenase deficiency, neonatal form; Neu-Laxova syndrome
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases;
Summary
Neu Laxova
Neu Laxova syndrome (NLS) is caused by changes or
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Ichthyosis | 0008064 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Lack of skin elasticity | 0100679 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Sloping forehead |
Inclined forehead
Receding forehead
[ more ] |
0000340 |
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ] |
0012471 |
30%-79% of people have these symptoms | ||
Abnormality of the philtrum | 0000288 | |
Absent septum pellucidum | 0001331 | |
Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ] |
0000062 |
Aplasia/Hypoplasia involving the skeletal musculature |
Absent/small skeletal muscles
Absent/underdeveloped skeletal muscles
[ more ] |
0001460 |
Broad foot |
Broad feet
Wide foot
[ more ] |
0001769 |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
Dandy-Walker malformation | 0001305 | |
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
External genital hypoplasia |
Underdevelopment of external reproductive organs
|
0003241 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Decreased activity of gonads
|
0000135 | |
Large hands |
large hand
|
0001176 |
Macrogyria | 0007227 | |
Macrotia |
Large ears
|
0000400 |
Muscle spasm | 0003394 | |
Muscular dystrophy | 0003560 | |
Opisthotonus | 0002179 | |
Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Polymicrogyria |
More grooves in brain
|
0002126 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
Trismus |
Lockjaw
|
0000211 |
5%-29% of people have these symptoms | ||
Abnormal eyelash morphology |
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality
[ more ] |
0000499 |
Abnormal nasolacrimal system morphology | 0000614 | |
Abnormality of cardiovascular system morphology | 0030680 | |
Arthrogryposis multiplex congenita | 0002804 | |
Bifid uvula | 0000193 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Osteomalacia |
Softening of the bones
|
0002749 |
Osteopenia | 0000938 | |
0000939 | ||
Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ] |
0000269 |
Pterygium | 0001059 | |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
Rickets |
Weak and soft bones
|
0002748 |
0002650 | ||
Spina bifida | 0002414 | |
Submucous cleft hard palate | 0000176 |
Cause
These 3 genes, PHGDH, PSAT1 and PSPH, are the instructions (code) for making the
Neu Laxova syndrome (NLS) can be considered as part of a group of diseases known as “serine biosynthesis defects”.[1] Serine biosynthesis defects result from different mutations in the PGDH, PSAT, or PSPH genes that lead to serine deficiency throughout the whole body (systemic). The serine biosynthesis diseases include:[2][4]
- Neu-Laxova syndrome the most severe form
- Infantile serine biosynthesis deficiency intermediate form with growth deficiency, small head, brain malformations, severe
developmental delay , and severe neurological problems includingseizures and stiff and rigid muscles (affects ability to move and develop speech). - Childhood serine biosynthesis disease the mildest form with normal growth and brain development, milder developmental delay, and seizures.
The difference between NLS and the other related syndromes is the amount of working protein that is made. In the case of NLS, the mutations in the genes do not allow very much working protein to be made at all. In other words, because of the mutation, one of the enzymes needed to make L-serine is almost completely inactive, so very little L-serine can be made in the body.[4]
Understanding that the symptoms of these diseases are caused by having too little L-serine is very important for future treatment, because giving L-serine before the neurological damage happens may be prove to be an effective therapy.[3][4]
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Neu Laxova syndrome in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Neu Laxova syndrome. Click on the link to view a sample search on this topic.
References
- Darouich S, Boujelbene N, Kehila M, Chanoufi MB, Reziga H, Gaigi S & Masmoudi A. Neu-Laxova syndrome: Three case reports and a review of the literature. Ann Pathol. August, 2016; 36(4):235-244. https://www.ncbi.nlm.nih.gov/pubmed/27475004.
- Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, & Zenker M. Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway. American Journal of Human Genetics. September 4 2014; 95(3):285-293. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157144/.
- El-Hattab AW, Shaheen R, Hertecant J, Galadari HI, Albaqawi BS, Nabil A & Alkuraya FS. On the phenotypic spectrum of serine biosynthesis defects. J Inherit Metab Dis. May, 2016; 39(3):373-81. https://www.ncbi.nlm.nih.gov/pubmed/26960553.
- El-Hattab AW. Serine biosynthesis and transport defects. Mol Genet Metab. July 2016; 118(3):153-9. https://www.ncbi.nlm.nih.gov/pubmed/27161889.
- Ugras M, Kocak G &, Ozcan H.. Neu-Laxova syndrome: a case report and review of the literature. J Eur Acad Dermatol Venereol. October, 2006; https://www.ncbi.nlm.nih.gov/pubmed/16987270.
- Neu-Laxova syndrome. Orphanet. October, 2006; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2439.
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