SMDS
MCID: SPN362
MIFTS: 41
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Spondylometaphyseal Dysplasia, Sedaghatian Type (SMDS)
Categories:
Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Spondylometaphyseal Dysplasia, Sedaghatian Type:
Characteristics:Orphanet epidemiological data:58
spondylometaphyseal dysplasia, sedaghatian type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Neuronal diseases Cardiovascular 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: 93317 Definition Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly. Epidemiology Nine cases have been reported so far in patients of Iranian, Yemeni and Caucasian origin. Clinical description A lacy appearance of the iliac crests, long fibulae, abnormal tarsal bones, cardiac arrhythmia, and intracranial anomalies have been described. Intrauterine growth is normal. The majority of patients die in the first days of life with symptoms of cardiorespiratory insufficiency. Subacute myocarditis, cortical necrosis of kidneys, adrenal and pulmonary hemorrhage, absence of the corpus callosum and marked frontotemporal pachygyria have been found at autopsy. Etiology Etiology remains unknown. Genetic counseling Autosomal recessive inheritance has been suggested. Visit the Orphanet disease page for more resources.
MalaCards based summary : Spondylometaphyseal Dysplasia, Sedaghatian Type, also known as sedaghatian chondrodysplasia, is related to spondylometaphyseal dysplasia, kozlowski type and spondylometaphyseal dysplasia with cone-rod dystrophy. An important gene associated with Spondylometaphyseal Dysplasia, Sedaghatian Type is GPX4 (Glutathione Peroxidase 4). The drugs Uric acid and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and kidney, and related phenotypes are delayed skeletal maturation and atrioventricular block OMIM : 56 Sedaghatian-type spondylometaphyseal dysplasia (SMDS) is a rare lethal disorder characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage. Affected infants present with severe hypotonia and cardiorespiratory problems; most die within days of birth due to respiratory failure. Cardiac abnormalities include conduction defects, complete heart block, and structural anomalies. Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia (summary by Smith et al., 2014). (250220) KEGG : 36 Sedaghatian type spondylometaphyseal dysplasia (SMDS) is a rare type of lethal congenital severe spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary haemorrhage. Most of the patients had been reported to have a short life span, and died shortly after birth due to respiratory failure. Half of infants with SMDS are reported to have central nervous system (CNS) malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia. It has been reported that recessive truncating mutations in the GPX4 gene are the cause of SMDS. UniProtKB/Swiss-Prot : 73 Spondylometaphyseal dysplasia, Sedaghatian type: A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDS is a neonatal lethal form characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities. |
Human phenotypes related to Spondylometaphyseal Dysplasia, Sedaghatian Type:58 31 (show top 50) (show all 54)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:250220 |
Drugs for Spondylometaphyseal Dysplasia, Sedaghatian Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Spondylometaphyseal Dysplasia, Sedaghatian Type:40
Bone,
Heart,
Kidney,
Liver,
Skin,
Brain,
Breast
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Articles related to Spondylometaphyseal Dysplasia, Sedaghatian Type:(show top 50) (show all 982)
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ClinVar genetic disease variations for Spondylometaphyseal Dysplasia, Sedaghatian Type:6
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