Details of Disease

General Information of Disease (ID: DISFIUUO)

Disease Name Anauxetic dysplasia
Synonyms
ANXD1; anauxetic dysplasia 1; spondylometaepiphyseal dysplasia anauxetic type; spondylometaepiphyseal dysplasia, anauxetic type; spondylometaepiphyseal dysplasia Menger type; spondyloepimetaphyseal dysplasia, Menger type; spondyloepimetaphyseal dysplasia, anauxetic type; anauxetic dysplasia type 1; spondylometaepiphyseal dysplasia, Menger type; anauxetic dysplasia
Definition
A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.|Editor note: consider distinct subclass for type 1
Disease Hierarchy
DIS1JG9A: Spondyloepiphyseal dysplasia
DISFIUUO: Anauxetic dysplasia
Disease Identifiers
MONDO ID
MONDO_0011773
MESH ID
C538256
UMLS CUI
C1846796
MedGen ID
375972
Orphanet ID
93347
SNOMED CT ID
764460003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NEPRO OTE5H49L Supportive Autosomal recessive [1]
POP1 OTBIYMJ0 Supportive Autosomal recessive [2]
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References

1 An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO. Am J Med Genet A. 2019 Sep;179(9):1709-1717. doi: 10.1002/ajmg.a.61267. Epub 2019 Jun 27.
2 Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. PLoS Genet. 2011 Mar;7(3):e1002027. doi: 10.1371/journal.pgen.1002027. Epub 2011 Mar 24.