Details of Disease

Disease Name

Diastrophic dysplasia

DD; diastrophic dwarfism; diastrophic dysplasia, Broad bone-Platyspondylic variant; DTD; diastrophic dysplasia

Definition

Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

Disease Hierarchy

DIS9SPWW: Osteochondrodysplasia

DISO5FAY: Inborn error of metabolism

DISV96AT: Mineral metabolism disease

DISNTGP7: Diastrophic dysplasia

Disease Identifiers

MONDO ID

MONDO_0009107

MESH ID

C536170

UMLS CUI

C0220726

OMIM ID

222600

MedGen ID

113103

Orphanet ID

628

SNOMED CT ID

58561002

General Information of Disease (ID: DISNTGP7)

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
SLC38A1	TT1YE9Z	Strong	Genetic Variation	[1]
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This Disease Is Related to 7 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC26A2	DTFSLX5	Disputed	Genetic Variation	[2]
SLC26A1	DTJ785O	Strong	Genetic Variation	[1]
SLC26A3	DTN1FMD	Strong	Genetic Variation	[3]
SLC26A5	DTPGHJ7	Strong	Biomarker	[3]
SLC26A6	DTVGOLN	Strong	Genetic Variation	[1]
SLC26A7	DTOTME4	Strong	Genetic Variation	[1]
SLC26A2	DTFSLX5	Definitive	Autosomal recessive	[4]
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⏷ Show the Full List of 7 DTP(s)

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
OTP	OTS0JN6Y	Limited	Biomarker	[5]
THOC5	OTHY50SK	Limited	Altered Expression	[6]
COMP	OTS2FPMI	moderate	Biomarker	[7]
COL9A1	OTWBR27Y	Strong	Biomarker	[7]
COL9A2	OT1ZBDBV	Strong	Biomarker	[7]
COL9A3	OTCUJOEK	Strong	Biomarker	[7]
DTD1	OT63V2KK	Strong	Genetic Variation	[1]
PAPSS2	OTDLEXPN	Strong	Genetic Variation	[8]
SLC26A2	OTJNHNTO	Definitive	Autosomal recessive	[4]
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⏷ Show the Full List of 9 DOT(s)

References

1	The Pendred syndrome gene encodes a chloride-iodide transport protein.Nat Genet. 1999 Apr;21(4):440-3. doi: 10.1038/7783.
2	Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.Eur J Med Genet. 2019 Nov;62(11):103573. doi: 10.1016/j.ejmg.2018.11.007. Epub 2018 Nov 10.
3	Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family.Genomics. 2001 Feb 15;72(1):43-50. doi: 10.1006/geno.2000.6445.
4	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.
5	Dynamical decoupling of nitroxides in o-terphenyl: a study of temperature, deuteration and concentration effects.Phys Chem Chem Phys. 2018 Jan 17;20(3):1615-1628. doi: 10.1039/c7cp07074h.
6	THO Complex-Dependent Posttranscriptional Control Contributes to Vascular Smooth Muscle Cell Fate Decision.Circ Res. 2018 Aug 17;123(5):538-549. doi: 10.1161/CIRCRESAHA.118.313527.
7	A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.J Hum Genet. 2008;53(8):764-768. doi: 10.1007/s10038-008-0305-z. Epub 2008 Jun 14.
8	Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis.J Hum Genet. 2001;46(9):538-43. doi: 10.1007/s100380170036.