Details of Disease

General Information of Disease (ID: DISYK1IP)

Disease Name Renpenning syndrome
Synonyms
MRXS8; intellectual disability, X-linked 55; intellectual disability, X-linked, syndromic 8; mental retardation, X-linked, Renpenning type; MRXS3; mental retardation, X-linked 55; RENS1; intellectual disability, X-linked Renpenning type; mental retardation, X-linked, syndromic 8; Renpenning syndrome 1; intellectual disability, X-linked, syndromic 3; X-linked mental retardation syndromic 3; mental retardation, X-linked Renpenning type; intellectual disability, X-linked, Renpenning type; mental retardation, X-linked, syndromic 3; X-linked intellectual disability syndromic 3; mental retardation, X-linked, with spastic diplegia; intellectual disability, X-linked, with spastic diplegia; Sutherland-Haan syndrome; X-linked intellectual disability due to PQBP1 mutations; Sutherland-Haan X-linked intellectual disability syndrome; Golabi-Ito-Hall syndrome; Sutherland-Haan X-linked mental retardation syndrome; renpenning syndrome, X-linked recessive; syndromic X-linked intellectual disability 8; X-linked mental retardation with spastic diplegia; Renpenning syndrome; X-linked intellectual disability with spastic diplegia; X-linked intellectual disability, Renpenning type; Renpenning syndrome type 1; X-linked mental retardation Renpenning type; X-linked intellectual disability Renpenning type; syndromic X-linked mental retardation 8
Definition An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature.
Disease Hierarchy
DISG1YOH: X-linked syndromic intellectual disability
DISYK1IP: Renpenning syndrome
Disease Identifiers
MONDO ID
MONDO_0010653
MESH ID
C537761
UMLS CUI
C0796135
OMIM ID
309500
MedGen ID
208670
Orphanet ID
3242
SNOMED CT ID
699669001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PQBP1 OTXCBEAH Definitive X-linked [1]
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References

1 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.