Spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia

Preferred Label : Spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Bedouin spastic ataxia syndrome;

Description : Mousa et al. (1986) described a syndrome of spastic ataxia in association with congenital cataracts, macular corneal dystrophy, and nonaxial myopia in an inbred Bedouin family. Somatic and mental development was normal. Mousa et al. (1986) concluded that this is different from the disorder described by Der Kaloustian et al. (1985); see 271310. The corneal dystrophy was stromal with deposition of mucoid material in their family whereas in the family of Der Kaloustian et al. (1985) it was thought to be epithelial in nature; furthermore, mental subnormality was present in the cases of Der Kaloustian et al. (1985). From examination of the pedigree presented by Mousa et al. (1986), it is by no means clear that they are dealing with more than one recessively inherited disorder. Indeed, the proband in this family (referred to by Mousa et al. (1986) as the 'marker case') had Bartter syndrome (see 241200), which brought the patient to clinical attention. *FIELD* RF 1. Der Kaloustian, V. M.; Jarudi, N. I.; Khoury, M. J.; Afifi, A. K.; Bahuth, N. B.; Deeb, M. E.; Shammas, J.; Mikati, M. A.: Familial spinocerebellar degeneration with corneal dystrophy. Am. J. Med. Genet. 20: 325-339, 1985. 2. Mousa, A. R. A.-M.; Al-Din, A. S. N.; Al-Nassar, K. E.; Al-Rifai, K. M. J.; Rudwan, M.; Sunba, M. S. N.; Behbehani, K.: Autosomally inherited recessive spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs: report of a Bedouin family--a new syndrome. J. Neurol. Sci. 76: 105-121, 1986. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 271320;

Details

Origin ID

271320;

UMLS CUI

C1849085;

Automatic exact mappings (from CISMeF team)
- Spastic ataxia - corneal dystrophy [ICD-11 More detail]
- Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Mousa Al din Al Nassar syndrome [MeSH concept]
- Spastic ataxia-corneal dystrophy syndrome [ORDO Disease]
- mousa al din al nassar syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Corneal dystrophy [HPO term]
- Developmental cataract [HPO term]
- Myopia [HPO term]
- Spastic ataxia [HPO term]
- Spinocerebellar tract degeneration [HPO term]
ORDO concept(s)
- Spastic ataxia-corneal dystrophy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mousa Al din Al Nassar syndrome [MeSH concept]
- Spastic ataxia-corneal dystrophy syndrome [ORDO Disease]
- Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) [SNOMED CT concept]
- mousa al din al nassar syndrome [MeSH Supplementary Concept]

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