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column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0009458/OMIM:242900","MONDO:0009458/ORPHA:1830"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"

Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.

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immunodeficiency","primary":false},{"hpoId":"HP:0003182","label":"Shallow acetabular fossae","primary":false},{"hpoId":"HP:0000470","label":"Short neck","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0001518","label":"Small for gestational age","primary":false},{"hpoId":"HP:0002655","label":"Spondyloepiphyseal dysplasia","primary":false},{"hpoId":"HP:0003774","label":"Stage 5 chronic kidney disease","primary":false},{"hpoId":"HP:0002133","label":"Status epilepticus","primary":false},{"hpoId":"HP:0001297","label":"Stroke","primary":false},{"hpoId":"HP:0001762","label":"Talipes equinovarus","primary":false},{"hpoId":"HP:0002942","label":"Thoracic kyphosis","primary":false},{"hpoId":"HP:0001873","label":"Thrombocytopenia","primary":false},{"hpoId":"HP:0002326","label":"Transient ischemic attack","primary":false},{"hpoId":"HP:0000325","label":"Triangular face","primary":false},{"hpoId":"HP:0002515","label":"Waddling 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People with this condition have flattened spinal bones (vertebrae) that shorten their neck and trunk. The adult height for people with this condition is typically between 3 and 5 feet. Additional skeletal problems in people with Schimke immuno-osseous dysplasia include abnormalities of the hip joints and the end of the leg bones where they meet the hip joint. These skeletal problems can cause the hip joints to break down (degenerate) over time, leading to joint pain and a limited range of movement. This combination of skeletal problems and spinal abnormalities is called spondyloepiphyseal dysplasia as it affects the bones of the spine (spondylo-) and the ends of long bones (epiphyses) in the legs. It affects most people with Schimke immuno-osseous dysplasia.People with Schimke immuno-osseous dysplasia often have kidney (renal) disease that may lead to life-threatening renal failure and end-stage renal disease (ESRD).","mondoId":"MONDO:0009458","records":[{"frequencyKind":"reported","key":"05ae89095f018c5ae900bdc51263abc1820ce700a558cb88edefd6b5a7e9ecbd","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:242900","disease_name":"Immunoosseous dysplasia, Schimke type","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0010701","is_excluded":false,"label":"Abnormal circulating immunoglobulin concentration","onset_id":null,"reference":"OMIM:242900","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"069a379c147b46d7324ee98634b2987b81773cfe921424b0a0961b66da113b9f","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:1830","disease_name":"Schimke immuno-osseous 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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Variants (also called mutations) in the SMARCAL1 gene can cause Schimke immuno-osseous dysplasia. The SMARCAL1 gene provides instructions for producing a protein that interacts with DNA. The SMARCAL1 protein helps when the process of making new copies of DNA, called DNA replication, is blocked by DNA damage. When DNA replication stalls, the SMARCAL1 proteins repair DNA damage by reattaching the two strands of DNA's double helix and allowing replication to proceed. Research on the function of similar proteins suggests that SMARCAL1 can influence the activity (expression) of other genes.

The altered or missing SMARCAL1 protein cannot repair DNA damage, which stalls DNA replication. While the exact mechanisms are unclear, this disruption in DNA replication and the buildup of DNA damage appears to lead to the characteristic features of Schimke immuno-osseous dysplasia. Affected individuals who have no functional SMARCAL1 proteins tend to have a more severe form of Schimke immuno-osseous dysplasia than those who have malfunctioning proteins.

Some people with Schimke immuno-osseous dysplasia do not have identified variants in the SMARCAL1 gene. In these cases, the cause of the disease is unknown.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Schimke immuno-osseous dysplasia?"},{"bodyHtml":"

Individuals with Schimke immuno-osseous dysplasia also have a shortage of immune system cells called T cells. T cells identify foreign substances and defend the body against infection. This shortage of T cells causes people with Schimke immuno-osseous dysplasia to have recurrent infections.

Other features frequently seen in people with Schimke immuno-osseous dysplasia include an exaggerated curvature of the lower back (lordosis); darkened patches of skin (hyperpigmentation), typically on the chest and back; abnormalities of the teeth; and a broad nasal bridge with a rounded tip of the nose.

Less common signs and symptoms of Schimke immuno-osseous dysplasia include an accumulation of fatty deposits in the lining of the arteries (atherosclerosis), reduced blood flow to the brain (ischemic stroke), migraine-like headaches, an underactive thyroid gland (hypothyroidism), a decrease in the number of blood cells (anemia), a lack of sperm (azoospermia), and irregular menstruation.

In severe cases, individuals with Schimke immuno-osseous dysplasia do not survive past childhood. In mild cases, people with Schimke immuno-osseous dysplasia can survive into adulthood.

Source: MedlinePlus Genetics

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