Details of Disease | DrugMAP

General Information of Disease (ID: DISV1U6H)

Disease Name	Keutel syndrome
Synonyms	pulmonic stenosis, brachytelephalangism, and calcification of cartilages; KEUTEL syndrome; pulmonic stenosis brachytelephalangism and calcification of cartilages; KTLS; Keutel syndrome; pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome
Definition	Keutel syndrome is characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.
Disease Hierarchy	DISERVGO: Chondrodysplasia punctata DIS3LICD: Congenital limb malformation DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISV1U6H: Keutel syndrome
Disease Identifiers	MONDO ID MONDO_0009495 MESH ID C536167 UMLS CUI C1855607 OMIM ID 245150 MedGen ID 383722 Orphanet ID 85202 SNOMED CT ID 724208006

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
GGCX	TT76OLR	Strong	Genetic Variation	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARSL	OTF1VTCR	Strong	Genetic Variation	[2]
MGP	OTZWU3FU	Definitive	Autosomal recessive	[3]
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References

1	Characterization of vitamin K-dependent carboxylase mutations that cause bleeding and nonbleeding disorders.Blood. 2016 Apr 14;127(15):1847-55. doi: 10.1182/blood-2015-10-677633. Epub 2016 Jan 12.
2	Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.Am J Med Genet A. 2014 Apr;164A(4):1062-8. doi: 10.1002/ajmg.a.36390. Epub 2014 Jan 23.
3	A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. Am J Med Genet A. 2005 May 15;135(1):36-40. doi: 10.1002/ajmg.a.30680.