Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
5q31.2
Marinesco-Sjogren syndrome (MSS) is an autosomal recessive disorder which has been characterized primarily through congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. Other characteristics of MSS involve short stature, hypergonadotrophic hypogonadism, and skeletal deformities due to muscle weakness.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 248800.1 | Saudi Arabia | Unknown | No | Intellectual disability; Cerebellar verm... Intellectual disability; Cerebellar vermis hypoplasia; Molar tooth sign on MRI; Global developmental delay  | NM_022464.5:c.1030-9G>A | Homozygous | Autosomal, Recessive | Anazi et al. 2017a | ||
| 248800.2.1 | Egypt | Female | Yes | Yes | Global developmental delay; Intellectua... Global developmental delay; Intellectual disability; Progressive muscle weakness; Generalized hypotonia; Cataract; Ataxia | NM_022464.5:c.1312C>T | Homozygous | Autosomal, Recessive | Karim et al. 2006 | Proband |
| 248800.2.2 | Egypt | Female | Yes | Yes | Global developmental delay; Intellectu... Global developmental delay; Intellectual disability; Progressive muscle weakness; Generalized hypotonia; Cataract; Ataxia | NM_022464.5:c.1312C>T | Homozygous | Autosomal, Recessive | Karim et al. 2006 | Sister of 248800.2.1 |
| 248800.2.3 | Egypt | Male | Yes | Yes | Global developmental delay; Intellect... Global developmental delay; Intellectual disability; Progressive muscle weakness; Generalized hypotonia; Cataract; Male hypogonadism | NM_022464.5:c.1312C>T | Homozygous | Autosomal, Recessive | Karim et al. 2006 | Maternal uncle of 24... |
| 248800.2.4 | Egypt | Female | Yes | Yes | Global developmental delay; Intellec... Global developmental delay; Intellectual disability; Progressive muscle weakness; Generalized hypotonia; Cataract | NM_022464.5:c.1312C>T | Homozygous | Autosomal, Recessive | Karim et al. 2006 | Maternal aunt of 248... |
| 248800.3.1 | United Arab Emirates | Male | Yes | Ataxia; Cerebellar atrophy; Dysmetria; D... Ataxia; Cerebellar atrophy; Dysmetria; Dysdiadochokinesis; Kyphosis; Clinodactyly; Intention tremor; Delayed speech and language development | NM_001037633.1:c.-197_90delinsCTGTACTTTCTCAGTTCACT | Homozygous | Autosomal, Recessive | Nair et al. 2016 | ||
| 248800.4 | Saudi Arabia | Unknown | No | Juvenile cataract Juvenile cataract | NM_022464.5:c.1030-9G>A | Homozygous | Autosomal, Recessive | Patel et al. 2017 | ||
| 248800.5 | Saudi Arabia | Unknown | No | Juvenile cataract Juvenile cataract | NM_022464.5:c.1030-9G>A | Homozygous | Autosomal, Recessive | Patel et al. 2017 | ||
| 248800.6 | Saudi Arabia | Female | No | Motor delay; Delayed speech and language... Motor delay; Delayed speech and language development; Short stature; Developmental regression; Cataract; Muscle weakness | NM_022464.5:c.1030-9G>A | Homozygous | Autosomal, Recessive | Monies et al. 2017 | ||
| 248800.7 | Saudi Arabia | Female | Cataract; Nystagmus; Cerebellar atrophy Cataract; Nystagmus; Cerebellar atrophy | NM_022464.5:c.1030-9G>A | Homozygous | Autosomal, Recessive | Monies et al. 2017 |
Farah et al. (1997) found two brothers affected with Marinesco-Sjogren syndrome (MSS) in a consanguineous Bedouin family. The two brothers were in their twenties and had abnormally short lateral 3 metatarsals, a characteristic that was absent in other healthy family members. They also demonstrated features of hypergonadotropic hypogonadism.