Details of Disease | DrugMAP

General Information of Disease (ID: DISGKJY3)

Disease Name	3-M syndrome
Synonyms	3M syndrome; 3-MSBN; three-M slender-boned nanism; gloomy face syndrome Yakut short stature syndrome, included; dwarfism with tall vertebrae; 3M1; three M syndrome 1; Dolichospondylic dysplasia; Le Merrer syndrome; Yakut short stature syndrome; Three M Syndrome; three M syndrome; gloomy face syndrome; 3-M syndrome; dolichospondylic dysplasia; Miller-McKusick-Malvaux syndrome
Definition	3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISCPWH9: Autosomal recessive disease DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISGKJY3: 3-M syndrome
Disease Identifiers	MONDO ID MONDO_0007477 MESH ID C535314 UMLS CUI C1848862 MedGen ID 336440 Orphanet ID 2616 SNOMED CT ID 702342007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CUL7	TTI8R0P	Supportive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCDC8	OTO295IH	Supportive	Autosomal recessive	[1]
CUL7	OTYN8CHX	Supportive	Autosomal recessive	[1]
OBSL1	OT6M8M3J	Supportive	Autosomal recessive	[1]
ANKRA2	OTLSLV5A	Strong	Biomarker	[2]
RFX7	OTKFNW3A	Strong	Biomarker	[2]
KLC4	OTACUFB2	Definitive	Genetic Variation	[3]
------------------------------------------------------------------------------------


⏷ Show the Full List of 6 DOT(s)

References

1	Three M Syndrome. 2002 Mar 25 [updated 2019 Feb 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2	Ankyrin repeats of ANKRA2 recognize a PxLPxL motif on the 3M syndrome protein CCDC8.Structure. 2015 Apr 7;23(4):700-12. doi: 10.1016/j.str.2015.02.001. Epub 2015 Mar 5.
3	Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.Am J Med Genet A. 2019 Jul;179(7):1157-1172. doi: 10.1002/ajmg.a.61154. Epub 2019 Apr 13.