LMHD
MCID: LNZ003
MIFTS: 45
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Lenz-Majewski Hyperostotic Dwarfism (LMHD)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Lenz-Majewski Hyperostotic Dwarfism:
Characteristics:Orphanet epidemiological data:58
lenz-majewski hyperostotic dwarfism
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
all cases due to de novo mutation (last curated february 2014) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Bone diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2658 Definition An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis. Epidemiology Nine cases have been reported in the literature. Clinical description Marked hypertelorism and broad forehead are noted in all patients as well as large ears. Loose and wrinkled atrophic skin with prominent veins is also apparent, giving the patient a progeroid appearance. Increasing generalized osteosclerosis of tubular bones, vertebrae and cranial bones is a characteristic feature. Cutaneous syndactyly of 2nd to 5th fingers was observed in all patients, as well as brachydactyly (see this term) and proximal symphalangism (see this term). All patients have moderate to severe intellectual deficit. Genetic counseling The elevated age of some patient's fathers of the reported families is suggestive of an autosomal dominant de novo mutation . Visit the Orphanet disease page for more resources.
MalaCards based summary : Lenz-Majewski Hyperostotic Dwarfism, also known as lenz-majewski syndrome, is related to paraplegia and limb-mammary syndrome. An important gene associated with Lenz-Majewski Hyperostotic Dwarfism is PTDSS1 (Phosphatidylserine Synthase 1), and among its related pathways/superpathways are Glycerophospholipid metabolism and Metabolism. Affiliated tissues include bone, skin and tongue, and related phenotypes are intellectual disability and global developmental delay Disease Ontology : 12 A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has material basis in heterozygous mutation in PTDSS1 on chromosome 8q22.1. OMIM : 56 Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by Sousa et al., 2014). (151050) KEGG : 36 Lenz-Majewski syndrome (LMS), also known as Lenz-Majewski hyperostotic dwarfism, is an extremely rare syndrome characterized by osteosclerosis, intellectual disability, characteristic facies, and distinct craniofacial, dental, cutaneous and distal-limb anomalies. Mutations in the PTDSS1 gene coding one of the phosphatidylserine (PS) synthase enzymes, PSS1, have been described as causative in LMS patients. Such mutations render PSS1 insensitive to feedback inhibition by PS levels. UniProtKB/Swiss-Prot : 73 Lenz-Majewski hyperostotic dwarfism: A syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. LMHD is characterized by the combination of sclerosing bone dysplasia, intellectual disability and distinct craniofacial, dental, cutaneous and distal limb anomalies. The progressive generalized hyperostosis associated with this syndrome affects the cranium, the vertebrae and the diaphyses of tubular bones, leading to severe growth restriction. Wikipedia : 74 Lenz-Majewski syndrome (LMS), also known as Lenz-Majewski hyperostotic dwarfism (LMHD), is a skin... more... |
Human phenotypes related to Lenz-Majewski Hyperostotic Dwarfism:58 31 (show top 50) (show all 94)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:151050 |
Cochrane evidence based reviews: lenz majewski hyperostotic dwarfism |
MalaCards organs/tissues related to Lenz-Majewski Hyperostotic Dwarfism:40
Bone,
Skin,
Tongue
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Articles related to Lenz-Majewski Hyperostotic Dwarfism:(show all 22)
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ClinVar genetic disease variations for Lenz-Majewski Hyperostotic Dwarfism:6
UniProtKB/Swiss-Prot genetic disease variations for Lenz-Majewski Hyperostotic Dwarfism:73
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Search
GEO
for disease gene expression data for Lenz-Majewski Hyperostotic Dwarfism.
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Pathways related to Lenz-Majewski Hyperostotic Dwarfism according to KEGG:36
Pathways related to Lenz-Majewski Hyperostotic Dwarfism according to GeneCards Suite gene sharing:
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Cellular components related to Lenz-Majewski Hyperostotic Dwarfism according to GeneCards Suite gene sharing:
Biological processes related to Lenz-Majewski Hyperostotic Dwarfism according to GeneCards Suite gene sharing:
Molecular functions related to Lenz-Majewski Hyperostotic Dwarfism according to GeneCards Suite gene sharing:
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