Details of Disease

General Information of Disease (ID: DIS3GE3I)

Disease Name Spondyloepimetaphyseal dysplasia, PAPSS2 type
Synonyms
brachyolmia type 4 with mild epiphyseal and metaphyseal changes; BCYM4; SEMD, Pakistani type; spondylodysplasia and premature pubarche; brachyolmia 4 with mild epiphyseal and metaphyseal changes; spondyloepimetaphyseal dysplasia Pakistani type; spondyloepimetaphyseal dysplasia, Pakistani type
Definition
A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
Disease Hierarchy
DISO5FAY: Inborn error of metabolism
DISO4L5A: Spondyloepimetaphyseal dysplasia
DISV96AT: Mineral metabolism disease
DIS3GE3I: Spondyloepimetaphyseal dysplasia, PAPSS2 type
Disease Identifiers
MONDO ID
MONDO_0019666
MESH ID
C567551
UMLS CUI
C2748515
OMIM ID
612847
MedGen ID
411234
Orphanet ID
93282
SNOMED CT ID
719172003

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
PAPSS2 OTDLEXPN Definitive Autosomal recessive [1]
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References

1 PAPSS2 mutations cause autosomal recessive brachyolmia. J Med Genet. 2012 Aug;49(8):533-8. doi: 10.1136/jmedgenet-2012-101039. Epub 2012 Jul 11.