Description:
MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB
MANNOSIDASE, BETA A, LYSOSOMAL; MANBA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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Hispanic/Latino
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Ethnicity
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Mexican/Italian
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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
5.55 |
| Passage Frozen |
2 |
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| Gene |
MANBA |
| Chromosomal Location |
4q24 |
| Allelic Variant 1 |
; MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB |
| Identified Mutation |
c.545G>A (p.R182G) |
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| Gene |
MANBA |
| Chromosomal Location |
4q24 |
| Allelic Variant 2 |
; MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB |
| Identified Mutation |
c.545G>A (p.R182G) |
| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
8 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
3 YR |
| Age at Diagnosis(If not a control) |
8 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
MANBA, C.545G>A (P.R182G), MISSENSE |
| Zygosity: |
Homozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
3 YEARS |
| Age at Diagnosis: |
8 YEARS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Optical and Audiological Symptoms |
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Defective hearing
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| Musculoskeletal Symptoms |
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| Additional Information: |
ADVANCED BONE AGE |
| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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Anxiety
Behavioral problems
Learning disability
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| Additional Information: |
OBSESSIVE COMPULSIVE TRAITS
PERSEVERATION |
| Additional Information |
| Uncategorized Symptoms: |
PRECOCIOUS PUBERTY
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| Testing Performed |
| Metabolic, Hematologic, and Endocrinologic Testing: |
LEUKOCYTES BETA MANNOSIDASE: 0 NMOL/H/MG |
| Treatments and Assistive Devices |
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Speech therapy
Hearing aid
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| Medications |
| Family History |
| Remarks |
Clinically affected. No dysmorphic features. Moderate to severe sensorineural hearing loss. Using hearing aids. Behavioral disturbances, anxiety, obsessive compulsive traits, perseveration. Learning difficulties. Precocious puberty. Advanced bone age. Homozygous mutation c.545G>A (p.R182G) in the MANBA gene. CYB21A2 gene test negative. |
| Gene Cards |
MANBA |
| Gene Ontology |
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds |
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GO:0004567 beta-mannosidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0006464 protein modification |
| NCBI Gene |
Gene ID:4126 |
| NCBI GTR |
248510 MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB |
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609489 MANNOSIDASE, BETA A, LYSOSOMAL; MANBA |
| OMIM |
248510 MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB |
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609489 MANNOSIDASE, BETA A, LYSOSOMAL; MANBA |
| Omim Description |
BETA-MANNOSIDASE DEFICIENCYMANNOSIDASE, BETA A, LYSOSOMAL, INCLUDED; MANBA, INCLUDED |
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MANNOSIDASE, BETA B, SOLUBLE, INCLUDED; MANBB, INCLUDED |
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MANNOSIDOSIS, BETA; MANB1 |
| Cumulative PDL at Freeze |
5.55 |
| Passage Frozen |
2 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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