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Deficiency of hyaluronoglucosaminidase(MPS9)

MedGen UID:
226942
Concept ID:
C1291490
Disease or Syndrome
Synonyms: HYALURONIDASE DEFICIENCY; MPS IX; MPS9; Mucopolysaccharidosis type 9; Mucopolysaccharidosis Type IX
SNOMED CT: Deficiency of hyaluronidase (124473006); Deficiency of hyaluronoglucosaminidase (124473006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): HYAL1 (3p21.31)
 
Monarch Initiative: MONDO:0011093
OMIM®: 601492
Orphanet: ORPHA67041

Definition

Mucopolysaccharidosis type IX (MPS9) is a rare progressive lysosomal storage disorder caused by the deficiency of the enzyme hyaluronoglucosaminidase-1, which degrades hyaluronan (summary by Imundo et al., 2011). [from OMIM]

Clinical features

From HPO
Knee pain
MedGen UID:
65421
Concept ID:
C0231749
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.
Ankle pain
MedGen UID:
116068
Concept ID:
C0238656
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.
Hip pain
MedGen UID:
1643075
Concept ID:
C4551516
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.
Popliteal cyst
MedGen UID:
10853
Concept ID:
C0032650
Anatomical Abnormality
A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle.
Acetabular erosions
MedGen UID:
1784060
Concept ID:
C5539737
Finding
Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Synovitis
MedGen UID:
21051
Concept ID:
C0039103
Disease or Syndrome
Inflammation of a synovial membrane.
Chondrocalcinosis
MedGen UID:
154303
Concept ID:
C0553730
Disease or Syndrome
Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .
Finger joint hypermobility
MedGen UID:
154359
Concept ID:
C0574974
Finding
Wrist hypermobility
MedGen UID:
340648
Concept ID:
C1850853
Finding
The ability of the wrist joints to move beyond their normal range of motion.
Lumbar scoliosis
MedGen UID:
412568
Concept ID:
C2748518
Finding
Hyperextensibility at elbow
MedGen UID:
869381
Concept ID:
C4023808
Anatomical Abnormality
The ability of the elbow joint to move beyond its normal range of motion.
Periarticular soft-tissue mass
MedGen UID:
1689016
Concept ID:
C5209226
Finding
A lump detected in the region that surrounds a joint. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Submucous cleft hard palate
MedGen UID:
98472
Concept ID:
C0432103
Congenital Abnormality
Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Bifid uvula
MedGen UID:
1646931
Concept ID:
C4551488
Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeficiency of hyaluronoglucosaminidase
Follow this link to review classifications for Deficiency of hyaluronoglucosaminidase in Orphanet.

Professional guidelines

PubMed

Li Z, Follman K, Freshwater E, Engler F, Yel L
Int Immunopharmacol 2024 Feb 15;128:111447. Epub 2024 Jan 6 doi: 10.1016/j.intimp.2023.111447. PMID: 38185032
Chen PH, Hu J, Wu J, Huynh DT, Smith TJ, Pan S, Bisnett BJ, Smith AB, Lu A, Condon BM, Chi JT, Boyce M
JCI Insight 2020 Jan 16;5(1) Epub 2019 Nov 26 doi: 10.1172/jci.insight.127751. PMID: 31944090Free PMC Article
Wasserman RL
J Allergy Clin Immunol Pract 2016 Nov-Dec;4(6):1076-1081.e3. doi: 10.1016/j.jaip.2016.09.011. PMID: 27836057

Recent clinical studies

Diagnosis

Imundo L, Leduc CA, Guha S, Brown M, Perino G, Gushulak L, Triggs-Raine B, Chung WK
J Inherit Metab Dis 2011 Oct;34(5):1013-22. Epub 2011 May 11 doi: 10.1007/s10545-011-9343-3. PMID: 21559944

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