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Disease Profile

SRD5A3-CDG (CDG-Iq)

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

Neonatal

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)

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq; CDG1Q; COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES;

Categories

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;

Summary

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

Orpha Number: 324737

Definition
SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.

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
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Optic atrophy
0000648
Type I transferrin isoform profile
0003642
30%-79% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Ataxia
0001251
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Coloboma
Notched pupil
0000589
Ichthyosis
0008064
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Microcytic anemia
0001935
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic disc hypoplasia
0007766
Visual loss
Loss of vision
Vision loss

[ more ]

0000572
5%-29% of people have these symptoms
Abnormal sacrum morphology
0005107
Abnormality of cardiovascular system morphology
0030680
Abnormality of the cerebellar vermis
0002334
Cerebellar atrophy
Degeneration of cerebellum
0001272
Elevated hepatic transaminase
High liver enzymes
0002910
Growth hormone deficiency
0000824
Hypertrichosis
0000998
Hypothyroidism
Underactive thyroid
0000821
Kyphosis
Hunched back
Round back

[ more ]

0002808
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Reduced antithrombin III activity
0001976
Rod-cone dystrophy
0000510
Seizure
0001250
Spotty hyperpigmentation
Spotty increased pigmentation
0005585
Percent of people who have these symptoms is not available through HPO
Abnormality of skin pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly

[ more ]

0001000
Autosomal recessive inheritance
0000007
Brachycephaly
Short and broad skull
0000248
Cerebellar vermis hypoplasia
0001320
Cutis laxa
Loose and inelastic skin
0000973
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Eczema
0000964
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Hyperkeratosis
0000962
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

0003593
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Motor delay
0001270
Polymicrogyria
More grooves in brain
0002126

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.

Organizations Supporting this Disease

    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.
    • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.