Lathosterolosis
Description
Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.
Clinical Features
Top most frequent phenotypes and symptoms related to Lathosterolosis
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Microcephaly
- Growth delay
- Failure to thrive
- Micrognathia
- Muscular hypotonia
And another 71 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Lathosterolosis Is also known as sc5d deficiency, sterol c5-desaturase deficiency.
Researches and researchers
Doctors, researchs, and experts related to Lathosterolosis extracted from public data.
Lathosterolosis Experts map
Current Researchs and researchers
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HUDDINGE — Pr Ingemar BJÖRKHEM
Investigator of research project
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Institution/s:
— Department of Laboratory Medicine, Karolinska Institutet - Huddinge -
Research area/topic::
Oxysterols in health and disease
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Institution/s:
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HUDDINGE — Pr Ulf DICZFALUSY
Investigator of research project
-
Institution/s:
— Department of Laboratory Medicine, Karolinska Institutet - Huddinge -
Research area/topic::
Oxysterols in health and disease
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Institution/s:
Lathosterolosis Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).
By CGC Genetics (Portugal).
SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)
View the complete list with 88 more genes
Specificity
1 %
Genes
100 % |
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).
By CGC Genetics (Portugal).
SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)
View the complete list with 88 more genes
Specificity
1 %
Genes
100 % |
Lathosterolosis.
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center (Netherlands).
SC5D
Specificity
100 %
Genes
100 % |
Mental retardation - different panels.
By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).
RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)
View the complete list with 845 more genes
Specificity
1 %
Genes
100 % |
SC5D.
By Fulgent Genetics Fulgent Genetics (United States).
SC5D
Specificity
100 %
Genes
100 % |
You can get up to -3 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
MESH ORPHANET OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT HAIM-MUNK SYNDROME; HMS CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1; PNH1 HYPERPARATHYROIDISM 2 WITH JAW TUMORS; HRPT2 WEAVER SYNDROME