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Lathosterolosis(LATHOS)

MedGen UID:
375885
Concept ID:
C1846421
Disease or Syndrome
Synonyms: SC5D deficiency; Sterol c5-desaturase deficiency
SNOMED CT: Lathosterolosis (719257008); Sterol C5 desaturase deficiency (719257008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SC5D (11q23.3-24.1)
 
Monarch Initiative: MONDO:0011816
OMIM®: 607330
Orphanet: ORPHA46059

Definition

Lathosterolosis (LATHOS) is an autosomal recessive disorder characterized by a recognizable pattern of multiple congenital anomalies involving axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. It is caused by a defect of cholesterol biosynthesis due to sterol C5-desaturase deficiency (summary by Rossi et al., 2007). [from OMIM]

Clinical features

From HPO
Horseshoe kidney
MedGen UID:
65140
Concept ID:
C0221353
Congenital Abnormality
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Ambiguous genitalia, male
MedGen UID:
867446
Concept ID:
C4021823
Finding
Ambiguous genitalia in an individual with XY genetic gender.
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Toe syndactyly
MedGen UID:
75581
Concept ID:
C0265660
Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
Postaxial hand polydactyly
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Postaxial foot polydactyly
MedGen UID:
384489
Concept ID:
C2112129
Finding
Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.
Foam cells with lamellar inclusion bodies
MedGen UID:
871121
Concept ID:
C4025590
Finding
The presence of foam cells that contain lamellar inclusion bodies.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Intrahepatic cholestasis
MedGen UID:
3042
Concept ID:
C0008372
Disease or Syndrome
Impairment of bile flow due to obstruction in the small bile ducts within the liver.
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Bilobate gallbladder
MedGen UID:
335420
Concept ID:
C1846422
Congenital Abnormality
The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Chiari malformation
MedGen UID:
2065
Concept ID:
C0003803
Congenital Abnormality
Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.
Myelomeningocele
MedGen UID:
7538
Concept ID:
C0025312
Congenital Abnormality
Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Schistocytosis
MedGen UID:
576247
Concept ID:
C0344386
Laboratory or Test Result
The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.
Acanthocytosis
MedGen UID:
195801
Concept ID:
C0687751
Disease or Syndrome
Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.
Increased mean platelet volume
MedGen UID:
853131
Concept ID:
C1096367
Finding
Average platelet volume above the upper limit of the normal reference interval.
Anisopoikilocytosis
MedGen UID:
436556
Concept ID:
C2675920
Finding
A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.
Pathologic fracture
MedGen UID:
42095
Concept ID:
C0016663
Pathologic Function
A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Lumbosacral meningocele
MedGen UID:
436462
Concept ID:
C2675557
Finding
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Butterfly vertebrae
MedGen UID:
1744309
Concept ID:
C5438458
Congenital Abnormality
A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.
Hyperbilirubinemia
MedGen UID:
86321
Concept ID:
C0311468
Finding
An increased amount of bilirubin in the blood.
Elevated circulating alkaline phosphatase concentration
MedGen UID:
727252
Concept ID:
C1314665
Finding
Abnormally increased serum levels of alkaline phosphatase activity.
Elevated hepatic transaminase
MedGen UID:
338525
Concept ID:
C1848701
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Abnormal circulating cholesterol concentration
MedGen UID:
871179
Concept ID:
C4025656
Finding
Any deviation from the normal concentration of cholesterol in the blood circulation.
Elevated circulating lathosterol concentration
MedGen UID:
1841581
Concept ID:
C5826782
Finding
Concentration of lathosterol in the blood circulation above the upper limit of normal.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Gingival overgrowth
MedGen UID:
87712
Concept ID:
C0376480
Finding
Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Thin vermilion border
MedGen UID:
108294
Concept ID:
C0578038
Finding
Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Narrow forehead
MedGen UID:
326956
Concept ID:
C1839758
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Thick upper lip vermilion
MedGen UID:
339521
Concept ID:
C1846423
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Sloping forehead
MedGen UID:
346640
Concept ID:
C1857679
Finding
Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLathosterolosis
Follow this link to review classifications for Lathosterolosis in Orphanet.

Recent clinical studies

Etiology

Gelzo M, Di Taranto MD, Sica C, Boscia A, Papagni F, Fortunato G, Corso G, Dello Russo A
Lipids Health Dis 2019 Dec 30;18(1):235. doi: 10.1186/s12944-019-1176-3. PMID: 31888647Free PMC Article
Kanungo S, Soares N, He M, Steiner RD
Dev Disabil Res Rev 2013;17(3):197-210. doi: 10.1002/ddrr.1114. PMID: 23798009
Porter FD, Herman GE
J Lipid Res 2011 Jan;52(1):6-34. Epub 2010 Oct 7 doi: 10.1194/jlr.R009548. PMID: 20929975Free PMC Article
Rossi M, D'Armiento M, Parisi I, Ferrari P, Hall CM, Cervasio M, Rivasi F, Balli F, Vecchione R, Corso G, Andria G, Parenti G
Am J Med Genet A 2007 Oct 15;143A(20):2371-81. doi: 10.1002/ajmg.a.31929. PMID: 17853487
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 Jan 15;132A(2):144-51. doi: 10.1002/ajmg.a.30426. PMID: 15580635

Diagnosis

Gelzo M, Di Taranto MD, Sica C, Boscia A, Papagni F, Fortunato G, Corso G, Dello Russo A
Lipids Health Dis 2019 Dec 30;18(1):235. doi: 10.1186/s12944-019-1176-3. PMID: 31888647Free PMC Article
Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC
Pediatr Radiol 2015 Jul;45(7):965-76. Epub 2015 Feb 3 doi: 10.1007/s00247-014-3257-9. PMID: 25646736
Jira P
Handb Clin Neurol 2013;113:1845-50. doi: 10.1016/B978-0-444-59565-2.00054-X. PMID: 23622407
Rossi M, D'Armiento M, Parisi I, Ferrari P, Hall CM, Cervasio M, Rivasi F, Balli F, Vecchione R, Corso G, Andria G, Parenti G
Am J Med Genet A 2007 Oct 15;143A(20):2371-81. doi: 10.1002/ajmg.a.31929. PMID: 17853487
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 Jan 15;132A(2):144-51. doi: 10.1002/ajmg.a.30426. PMID: 15580635

Therapy

Prasun P, Ferguson E, Iverson A, Cork E, Dolinger M, Ward SC, Arnon R
J Pediatr Gastroenterol Nutr 2019 Nov;69(5):e142-e145. doi: 10.1097/MPG.0000000000002434. PMID: 31259789

Prognosis

Calvo PL, Brunati A, Spada M, Romagnoli R, Corso G, Parenti G, Rossi M, Baldi M, Carbonaro G, David E, Pucci A, Amoroso A, Salizzoni M
Am J Transplant 2014 Apr;14(4):960-5. Epub 2014 Mar 12 doi: 10.1111/ajt.12645. PMID: 24621408
Kanungo S, Soares N, He M, Steiner RD
Dev Disabil Res Rev 2013;17(3):197-210. doi: 10.1002/ddrr.1114. PMID: 23798009
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 Jan 15;132A(2):144-51. doi: 10.1002/ajmg.a.30426. PMID: 15580635

Clinical prediction guides

Gelzo M, Di Taranto MD, Sica C, Boscia A, Papagni F, Fortunato G, Corso G, Dello Russo A
Lipids Health Dis 2019 Dec 30;18(1):235. doi: 10.1186/s12944-019-1176-3. PMID: 31888647Free PMC Article
Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC
Pediatr Radiol 2015 Jul;45(7):965-76. Epub 2015 Feb 3 doi: 10.1007/s00247-014-3257-9. PMID: 25646736
Calvo PL, Brunati A, Spada M, Romagnoli R, Corso G, Parenti G, Rossi M, Baldi M, Carbonaro G, David E, Pucci A, Amoroso A, Salizzoni M
Am J Transplant 2014 Apr;14(4):960-5. Epub 2014 Mar 12 doi: 10.1111/ajt.12645. PMID: 24621408

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