Rare Nephrology News
Disease Profile
MAN1B1-CDG
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000
Age of onset
Infancy
ICD-10
E77.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Intellectual disability-truncal obesity syndrome; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Summary
Orpha Number: 397941
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Global |
0001263 | |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
| 30%-79% of people have these symptoms | ||
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
| Macrotia |
Large ears
|
0000400 |
| Poor speech | 0002465 | |
| Truncal obesity | 0001956 | |
| Type II transferrin isoform profile | 0012301 | |
| 5%-29% of people have these symptoms | ||
| Abnormal position of hair whorl |
Abnormal location of hair swirl
|
0010814 |
| 0000717 | ||
| Broad-based gait |
Wide based walk
|
0002136 |
| Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
| Cutis laxa |
Loose and inelastic skin
|
0000973 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
| Frontal bossing | 0002007 | |
| Hypermetropia |
Farsightedness
Long-sightedness
[ more ] |
0000540 |
| Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
| Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
| Inverted nipples | 0003186 | |
| Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] |
0001382 |
| Long eyebrows |
Elongated eyebrow
Increased horizontal length of eyebrow
Increased transverse length of eyebrow
[ more ] |
0004523 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ] |
0000307 |
| Polyphagia |
Voracious appetite
|
0002591 |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] |
0000448 |
| 0001250 | ||
| Short chin |
Decreased height of chin
Short lower third of face
[ more ] |
0000331 |
| Short neck |
Decreased length of neck
|
0000470 |
| Short philtrum | 0000322 | |
| Smooth philtrum | 0000319 | |
| Sparse eyebrow |
Sparse eyebrows
|
0045075 |
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
| Underdeveloped nasolabial fold | 0010801 | |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
| Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 |
| 1%-4% of people have these symptoms | ||
| 2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Eclabion |
Outward turned lips
|
0012472 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
| Flat occiput | 0005469 | |
| Long eyelashes |
Increased length of eyelashes
Unusually long eyelashes
[ more ] |
0000527 |
| Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] |
0000276 |
| Multiple cafe-au-lait spots | 0007565 | |
| Periventricular heterotopia | 0007165 | |
| Resting tremor |
Tremor at rest
|
0002322 |
| Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ] |
0012471 |
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.