Monogenic hearing loss
Gene: ARSBEnsemblGeneIds (GRCh38): ENSG00000113273
EnsemblGeneIds (GRCh37): ENSG00000113273
OMIM: 611542, Gene2Phenotype
ARSB is in 15 panels
1 review
Jun Shen (Harvard Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#253200:Mucopolysaccharidosis type VI (Maroteaux-Lamy)[Adult height 110-140 cmShort-trunked dwarfism; Growth arrest at 2-4 years of age; Macrocephaly; Mildly coarse facies; Hearing loss; GlaucomaCorneal clouding; Low nasal bridge; Thickened lipsMacroglossia; Valvular heart disease (aortic and mitral valves)Infantile cardiomyopathy; Frequent upper respiratory infections; Prominent sternumBroad ribs; Inguinal herniaUmbilical hernia; Hepatomegaly; Splenomegaly; Dysostosis multiplex; Large omega-shaped sellaLarge dolichocephalic skull; Prominent lumbar lordosisOdontoid hypoplasiaOvoid vertebral bodiesAnterior wedging of L1 and L2; Hip dysplasiaAcetabular hypoplasiaSmall, flared iliac wingsAseptic necrosis of femoral head; Joint stiffnessGenu valgumEpiphyseal dysplasiaBroad, irregular metaphyses; Claw hand deformities; Mild hirsutism; Normal intelligenceCervical myelopathyHydrocephalus; Carpal tunnel syndrome; Arylsulfatase B deficiency in fibroblasts and white blood cellsDermatan sulfate excretion in urine]
Publications
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- hearing loss
- OMIM
- 611542
- Clinvar variants
- Variants in ARSB
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Likely inborn error of metabolism
- Mucopolysaccharidosis type VI
- Hydrocephalus
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)ARSB was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory