Disease Profile

MAN1B1-CDG

Prevalence ?
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

< 331

US Estimated

< 514

Europe Estimated

Age of Onset

Infancy

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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

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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

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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.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 397941

Definition
MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).

Visit the Orphanet disease page for more resources.

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 developmental delay
0001263
Infantile muscular hypotonia
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
Intellectual disability, mild
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
Autism
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
Seizure
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 syndactyly
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.