Details of Disease | DrugMAP

General Information of Disease (ID: DISEB2FS)

Disease Name	Intellectual disability-sparse hair-brachydactyly syndrome
Synonyms	sparse hair and intellectual disability; NCBRS; NBs; NICOLAIDES-Baraitser syndrome; sparse hair and mental retardation; Nicolaides-Baraitser syndrome; intellectual disability-sparse hair-brachydactyly syndrome; SMARCA2-related BAFopathy
Definition	Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISH7SDF: Syndromic intellectual disability DISD715V: Hereditary neurological disease DISQTWXD: BAFopathy DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISEB2FS: Intellectual disability-sparse hair-brachydactyly syndrome
Disease Identifiers	MONDO ID MONDO_0011053 MESH ID C536116 UMLS CUI C1303073 OMIM ID 601358 MedGen ID 220983 Orphanet ID 3051 SNOMED CT ID 401046009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NBN	OT73B5MD	Limited	Altered Expression	[1]
TBC1D24	OTKZUSMD	Disputed	Genetic Variation	[2]
ARID1B	OTILK3Q7	Definitive	Biomarker	[3]
BANF1	OTP7Z38L	Definitive	Biomarker	[3]
SMARCA2	OTSGJ8SV	Definitive	Autosomal dominant	[4]
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References

1	The Effect of an Orthotic Device for Balancing Neck Muscles During Daily Office Tasks.Hum Factors. 2019 Aug;61(5):722-735. doi: 10.1177/0018720818814957. Epub 2019 Jan 4.
2	Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):241-51. doi: 10.1002/ajmg.c.31415. Epub 2014 Aug 28.
3	Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.Eur J Med Genet. 2020 Mar;63(3):103739. doi: 10.1016/j.ejmg.2019.103739. Epub 2019 Aug 14.
4	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.