Details of Disease

General Information of Disease (ID: DISGIJPF)

Disease Name Acromesomelic dysplasia 1, Maroteaux type
Synonyms acromesomelic dwarfism Maroteux type; acromesomelic dysplasia Maroteaux type; St. Helena dysplasia; AMDM; acromesomelic dysplasia 1, Maroteaux type; acromesomelic dysplasia, Maroteaux type
Definition
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.
Disease Hierarchy
DISR3TMZ: Acromesomelic dysplasia
DISGIJPF: Acromesomelic dysplasia 1, Maroteaux type
Disease Identifiers
MONDO ID
MONDO_0011275
MESH ID
C535661
UMLS CUI
C1864356
OMIM ID
602875
MedGen ID
355199
Orphanet ID
40
SNOMED CT ID
718559000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GDF5 TT37XV9 Strong Genetic Variation [1]
NPR2 TTNB7IF Definitive Autosomal recessive [2]
NPR2 TTNB7IF Definitive Genetic Variation [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SPAG8 OTZC5XP9 Strong Genetic Variation [4]
NPR2 OT4651SI Definitive Autosomal recessive [2]
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References

1 Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.Am J Hum Genet. 1998 Jul;63(1):155-62. doi: 10.1086/301917.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3 Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux.Eur J Med Genet. 2019 Sep;62(9):103554. doi: 10.1016/j.ejmg.2018.10.006. Epub 2018 Oct 22.
4 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet. 2004 Jul;75(1):27-34. doi: 10.1086/422013. Epub 2004 May 14.