Rare Endocrinology News
Disease Profile
PMM2-CDG (CDG-Ia)
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.
Unknown
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)
CDG 1A; CDG1A; Jaeken syndrome;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Metabolic disorders;
Summary
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 | ||
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
30%-79% of people have these symptoms | ||
Abnormal subcutaneous fat |
Abnormal fat tissue distribution below the skin
|
0007552 |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
Delayed myelination | 0012448 | |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Esotropia |
Inward turning cross eyed
|
0000565 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Global |
0001263 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Inverted nipples | 0003186 | |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
Kyphoscoliosis | 0002751 | |
Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
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 |
Long fingers | 0100807 | |
Long philtrum | 0000343 | |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Muscular |
Low muscle tone in trunk
|
0008936 |
Osteopenia | 0000938 | |
0000939 | ||
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] |
0000448 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
0001250 | ||
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Vomiting |
Throwing up
|
0002013 |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
5%-29% of people have these symptoms | ||
Abnormal liver parenchyma morphology | 0030146 | |
Abnormal renal tubule morphology | 0000091 | |
Aplasia of the ovary |
Absent ovary
|
0010463 |
Aspiration pneumonia | 0011951 | |
0001251 | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Enlarged cisterna magna | 0002280 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Fever | 0001945 | |
Growth |
0000845 | |
Hepatic fibrosis | 0001395 | |
Hyperinsulinemia | 0000842 | |
Hyperplastic labia majora | 0012882 | |
Hypoalbuminemia |
Low blood albumin
|
0003073 |
Hypogonadotropic |
0000044 | |
Increased circulating prolactin concentration | 0000870 | |
Increased thyroid-stimulating hormone level | 0002925 | |
Insulin resistance |
Body fails to respond to insulin
|
0000855 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Macrotia |
Large ears
|
0000400 |
Multiple joint |
0002828 | |
Multiple renal cysts |
OrganizationsSupport 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. Organizations Supporting this Disease
Social Networking Websites
Learn moreThese 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. Where to Start
In-Depth Information
References
Rare Endocrinology News |