Details of Disease | DrugMAP

General Information of Disease (ID: DISBMRIW)

Disease Name	Progressive pseudorheumatoid arthropathy of childhood
Synonyms	spondyloepiphyseal dysplasia tarda - progressive arthropathy; spondyloepiphyseal dysplasia tarda with progressive arthropathy; PPAC; SEDT-PA; progressive pseudorheumatoid dysplasia; PPD; progressive pseudorheumatoid chondrodysplasia; arthropathy, progressive pseudorheumatoid, of childhood; spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome; progressive pseudorheumatoid arthropathy of childhood
Definition	Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.
Disease Hierarchy	DIS1JG9A: Spondyloepiphyseal dysplasia DISBMRIW: Progressive pseudorheumatoid arthropathy of childhood
Disease Identifiers	MONDO ID MONDO_0008827 MESH ID C535387 UMLS CUI C0432215 OMIM ID 208230 MedGen ID 96581 Orphanet ID 1159 SNOMED CT ID 254065005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CFP	TTLA0VS	Strong	Biomarker	[1]
GALR1	TTX3HNZ	Strong	Altered Expression	[2]
GALR2	TTBPW3J	Strong	Biomarker	[2]
HPD	TT8DSFC	Strong	Altered Expression	[3]
SHH	TTIENCJ	Strong	Altered Expression	[4]
SLC6A4	TT3ROYC	Strong	Genetic Variation	[5]
------------------------------------------------------------------------------------


⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TTC9B	OTHBKTIU	Limited	Altered Expression	[6]
AGO2	OT4JY32Q	Strong	Altered Expression	[3]
CCN6	OTRFHQ2Z	Strong	Autosomal recessive	[7]
COA6	OTT52V2I	Strong	Altered Expression	[8]
COL10A1	OTC4G2YC	Strong	Genetic Variation	[9]
HP1BP3	OTTJ5LX2	Strong	Posttranslational Modification	[10]
LMBR1	OTGRQK9V	Strong	Genetic Variation	[4]
------------------------------------------------------------------------------------


⏷ Show the Full List of 7 DOT(s)

References

1	The Kinetics of the Humoral and Interferon-Gamma Immune Responses to Experimental Mycobacterium bovis Infection in the White Rhinoceros (Ceratotherium simum).Front Immunol. 2017 Dec 22;8:1831. doi: 10.3389/fimmu.2017.01831. eCollection 2017.
2	Inhibition of GALR1 in PFC Alleviates Depressive-Like Behaviors in Postpartum Depression Rat Model by Upregulating CREB-BNDF and 5-HT Levels.Front Psychiatry. 2018 Nov 14;9:588. doi: 10.3389/fpsyt.2018.00588. eCollection 2018.
3	20(S)-25-methoxyl-dammarane-3,12,20-triol attenuates endoplasmic reticulum stress via ERK/MAPK signaling pathway.Eur J Pharmacol. 2018 Oct 5;836:75-82. doi: 10.1016/j.ejphar.2018.08.001. Epub 2018 Aug 7.
4	A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud.Genet Med. 2020 Jan;22(1):189-198. doi: 10.1038/s41436-019-0626-7. Epub 2019 Aug 9.
5	The interaction between estradiol change and the serotonin transporter gene (5-HTTLPR) polymorphism is associated with postpartum depressive symptoms.Psychiatr Genet. 2019 Aug;29(4):97-102. doi: 10.1097/YPG.0000000000000222.
6	Replication of Epigenetic Postpartum Depression Biomarkers and Variation with Hormone Levels.Neuropsychopharmacology. 2016 May;41(6):1648-58. doi: 10.1038/npp.2015.333. Epub 2015 Oct 27.
7	Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet. 1999 Sep;23(1):94-8. doi: 10.1038/12699.
8	RNAi inhibition of feruloyl CoA 6'-hydroxylase reduces scopoletin biosynthesis and post-harvest physiological deterioration in cassava (Manihot esculenta Crantz) storage roots.Plant Mol Biol. 2017 May;94(1-2):185-195. doi: 10.1007/s11103-017-0602-z. Epub 2017 Mar 18.
9	Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene.Eur J Hum Genet. 1998 May-Jun;6(3):251-6. doi: 10.1038/sj.ejhg.5200187.
10	DNA methylation biomarkers prospectively predict both antenatal and postpartum depression.Psychiatry Res. 2020 Mar;285:112711. doi: 10.1016/j.psychres.2019.112711. Epub 2019 Nov 27.