Desmosterolosis

Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.



Input patient's signs and symptoms


Narrow down the case reports



Total: 7 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(63.5%)		 12457401
 Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay.
Andersson HC, Kratz L, Kelley R.
Am J Med Genet. 2002;113(4):315-9.
Micrognathia Downslanted palpebral fissures
DHCR24
Child, Preschool Desmosterol Developmental Disabilities Homo sapiens Lipid Metabolism, Inborn Errors Lymphocyte Male Nerve Tissue Proteins Oxidoreductase Oxidoreductases Acting on CH-CH Group Donors Phenotype
2
(57.8%)		 12812989
 Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.
Krakowiak PA, Wassif CA, Kratz L, Cozma D, Kovarova M, Harris G, Grinberg A, Yang Y, Hunter AG, Tsokos M, Kelley RI, Porter FD.
Hum Mol Genet. 2003;12(13):1631-41.
Micrognathia
EBP SC5D
c|SUB|A|137|C;RS#:104894297 p|SUB|Y|46|S;RS#:104894297 rs104894297
Amino Acid Sequence Animals Fibroblasts Genotype Homo sapiens Homozygote Infant, Newborn Lipid Metabolism, Inborn Errors Mice, Transgenic Models, Chemical Models, Genetic Molecular Sequence Data Mus Mutation Oxidoreductases Acting on CH-CH Group Donors Phenotype Sequence Homology, Amino Acid Skin Smith-Lemli-Opitz Syndrome Sterols Time Factors
3
(40.2%)		 9450875
 Clinical phenotype of desmosterolosis.
FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, Mills K, Winter RM, Clayton PT.
Am J Med Genet. 1998;75(2):145-52.
Macrocephaly Hypoplastic nasal bridge
Adult Desmosterol Females Gas Chromatography-Mass Spectrometry Homo sapiens Infant, Newborn Lipid Metabolism, Inborn Errors Male Middle Aged Phenotype Syndrome
4
(39.0%)		 21671375
(4995031)
 Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M.
Am J Med Genet A. 2011;155A(7):1597-604.
Relative macrocephaly
DHCR24
c|SUB|G|1438|A;RS#:387906940 c|SUB|G|281|A;RS#:387906939 p|SUB|E|480|K;RS#:387906940 p|SUB|R|94|H;RS#:387906939 rs387906939 rs387906940
Age Determination by Skeleton Brain Desmosterol Exons Females Homo sapiens Infant, Newborn Lipid Metabolism, Inborn Errors Magnetic Resonance Imaging Molecular Dynamics Simulation Mutation Nerve Tissue Proteins Oxidoreductases Acting on CH-CH Group Donors Phenotype Protein Conformation Recombinant Proteins Saccharomyces cerevisiae
5
(17.5%)		 24961299
(4076431)
 Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.
Dias C, Rupps R, Millar B, Choi K, Marra M, Demos M, Kratz LE, Boerkoel CF.
Orphanet J Rare Dis. 2014;9:94.
Spasticity
DHCR24
c|SUB|G|571|A;RS#:119475041 p|SUB|E|191|K;RS#:119475041
Differential Diagnosis Females Homo sapiens Lipid Metabolism, Inborn Errors
6
(4.0%)		 29175559
(5963269)
 Desmosterolosis presenting with multiple congenital anomalies.
Rohanizadegan M, Sacharow S.
Eur J Med Genet. 2018;61(3):152-156.
Ventriculomegaly
DHCR24
p|SUB|E|191|K;RS#:119475041
Adult Developmental Disabilities Females Homo sapiens Homozygote Infant Lipid Metabolism, Inborn Errors Male Mutation Nerve Tissue Proteins Oxidoreductases Acting on CH-CH Group Donors
6
(4.0%)		 15580635
 Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.
Rossi M, Vajro P, Iorio R, Battagliese A, Brunetti-Pierri N, Corso G, Di Rocco M, Ferrari P, Rivasi F, Vecchione R, Andria G, Parenti G.
Am J Med Genet A. 2005;132A(2):144-51.
Hepatic fibrosis
Child Child, Preschool Females Fibrosis Follow-Up Studies Homo sapiens Infant Liver Male Mutation Oxidoreductases Acting on CH-CH Group Donors Smith-Lemli-Opitz Syndrome Time Factors
        

Phenotype(s) retrieved from Orphanet

    Total: 57

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000176 Submucous cleft hard palate Very frequent (99-80%)
HP:0000193 Bifid uvula Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000278 Retrognathia Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001257 Spasticity Very frequent (99-80%)
HP:0001274 Agenesis of corpus callosum Very frequent (99-80%)
HP:0001276 Hypertonia Very frequent (99-80%)
HP:0001331 Absent septum pellucidum Very frequent (99-80%)
HP:0001508 Failure to thrive Very frequent (99-80%)
HP:0001510 Growth delay Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0002063 Rigidity Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0003552 Muscle stiffness Very frequent (99-80%)
HP:0011968 Feeding difficulties Very frequent (99-80%)
HP:0000160 Narrow mouth Frequent (79-30%)
HP:0000363 Abnormality of earlobe Frequent (79-30%)
HP:0000366 Abnormality of the nose Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0002133 Status epilepticus Frequent (79-30%)
HP:0003196 Short nose Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0009748 Large earlobe Frequent (79-30%)
HP:0000062 Ambiguous genitalia Occasional (29-5%)
HP:0000104 Renal agenesis Occasional (29-5%)
HP:0000238 Hydrocephalus Occasional (29-5%)
HP:0000256 Macrocephaly Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000494 Downslanted palpebral fissures Occasional (29-5%)
HP:0001302 Pachygyria Occasional (29-5%)
HP:0001339 Lissencephaly Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0001744 Splenomegaly Occasional (29-5%)
HP:0001840 Metatarsus adductus Occasional (29-5%)
HP:0001883 Talipes Occasional (29-5%)
HP:0002007 Frontal bossing Occasional (29-5%)
HP:0002126 Polymicrogyria Occasional (29-5%)
HP:0002269 Abnormality of neuronal migration Occasional (29-5%)
HP:0002536 Abnormal cortical gyration Occasional (29-5%)
HP:0002566 Intestinal malrotation Occasional (29-5%)
HP:0002983 Micromelia Occasional (29-5%)
HP:0004334 Dermal atrophy Occasional (29-5%)
HP:0007227 Macrogyria Occasional (29-5%)
HP:0008065 Aplasia/Hypoplasia of the skin Occasional (29-5%)
HP:0008678 Renal hypoplasia/aplasia Occasional (29-5%)
HP:0010772 Anomalous pulmonary venous return Occasional (29-5%)
HP:0011001 Increased bone mineral density Occasional (29-5%)
HP:0011002 Osteopetrosis Occasional (29-5%)
HP:0011220 Prominent forehead Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 6

HPO ID Term # of case reports
HP:0001257 Spasticity 1
HP:0001396 Cholestasis 1
HP:0001508 Failure to thrive 1
HP:0002119 Ventriculomegaly 1
HP:0004482 Relative macrocephaly 1
HP:0012762 Cerebral white matter atrophy 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
DHCR24 24-dehydrocholesterol reductase 1718