Details of Disease

General Information of Disease (ID: DISBI311)

Disease Name Achondrogenesis type IB
Synonyms
achondrogenesis, Fraccaro type; achondrogenesis, type 1B; achondrogenesis type 1B; ACG1B; achondrogenesis, type IB; Fraccaro achondrogenesis; achondrogenesis type IB; achondrogenesis Ib; achondrogenesis Fraccaro type; achondrogenesis, Parenti-Fraccaro type
Definition
Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.
Disease Hierarchy
DISO5FAY: Inborn error of metabolism
DISCBQB8: Achondrogenesis
DISV96AT: Mineral metabolism disease
DISBI311: Achondrogenesis type IB
Disease Identifiers
MONDO ID
MONDO_0010966
MESH ID
C536016
UMLS CUI
C0265274
OMIM ID
600972
MedGen ID
78547
Orphanet ID
93298
SNOMED CT ID
14870002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC26A2 DTFSLX5 Limited Genetic Variation [1]
SLC26A5 DTPGHJ7 Strong Biomarker [2]
SLC26A2 DTFSLX5 Definitive Autosomal recessive [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC26A2 OTJNHNTO Definitive Autosomal recessive [3]
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References

1 Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish.PLoS One. 2015 Sep 16;10(9):e0136832. doi: 10.1371/journal.pone.0136832. eCollection 2015.
2 Pathogenetics of the human SLC26 transporters.Curr Med Chem. 2005;12(4):385-96. doi: 10.2174/0929867053363144.
3 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.