Details of Disease | DrugMAP

General Information of Disease (ID: DISOUKVZ)

Disease Name	Severe intellectual disability-progressive spastic diplegia syndrome
Synonyms	mental retardation, autosomal dominant 19; autosomal dominant non-syndromic intellectual disability 19; intellectual disability, autosomal dominant 19; CTNNB1-related intellectual disability; severe intellectual disability-progressive spastic diplegia syndrome; intellectual disability, autosomal dominant type 19; neurodevelopmental disorder with spastic diplegia and visual defects; mental retardation, autosomal dominant type 19; MRD19; autosomal dominant mental retardation 19; autosomal dominant intellectual disability 19
Definition	Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISH7SDF: Syndromic intellectual disability DIS1I87P: Intellectual disability, autosomal dominant DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISOUKVZ: Severe intellectual disability-progressive spastic diplegia syndrome
Disease Identifiers	MONDO ID MONDO_0014035 UMLS CUI C3554449 OMIM ID 615075 MedGen ID 767363 Orphanet ID 404473

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CTNNB1	TTRPKQG	Strong	CausalMutation	[1]
CTNNB1	TTRPKQG	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CTNNB1	OTZ932A3	Definitive	Autosomal dominant	[2]
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References

1	Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.Eur J Med Genet. 2017 Feb;60(2):130-135. doi: 10.1016/j.ejmg.2016.11.008. Epub 2016 Nov 30.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.