eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| homocystinuria due to cystathionine beta-synthase deficiency | ||||
| Disease ID | 790 |
|---|---|
| Disease | homocystinuria due to cystathionine beta-synthase deficiency |
| Definition | The symptoms associated with homocystinuria due to CBS deficiency are highly variable. Some affected individuals may have only very mild signs of the disorder; others may have many different symptoms including some potentially life-threatening complications. Individuals can be separated into two distinct groups: those who respond to therapy with pyridoxine (vitamin B6) therapy and those who do not. Generally, individuals who respond to pyridoxine therapy have a milder form of the disorder, most likely because of residual activity of the CBS enzyme. In addition, the presence and specific location of blood clots also determines the severity of associated symptoms in each individual.Infants with homocystinuria due to CBS deficiency are normal at birth, but, if left untreated, will slowly develop the various symptoms associated with the disorder. Prompt detection and treatment of homocystinuria due to CBS deficiency is important in preventing or reducing the symptoms associated with the disorder.Homocystinuria due to CBS deficiency can potentially affect many different organ systems of the body. The four organ systems most commonly involved are the eyes, central nervous system, skeleton and the network of vessels that carry blood and other fluids throughout the body (vascular [circulatory] system).In some cases, the abnormalities affecting the eyes may be the first outward sign of homocystinuria due to CBS-deficiency. Many individuals develop displacement of the lenses of the eyes (ectopia lentis) away from the center of the eyeball. Affected individuals also usually develop severe nearsightedness (myopia) and quivering of the colored portion of the eye (iridodonesis). Ectopia lentis and myopia usually develop after the first year of life, often by 10 years of age.Additional abnormalities of the eyes have been reported in individuals with homocystinuria due to CBS deficiency. These abnormalities occur less frequently than ectopia lentis and myopia. Such abnormalities include clouding of the lenses of the eyes (cataracts), degeneration of the nerve (optic nerve) that relays signals from the eye to the brain (optic atrophy), and glaucoma, a condition in which increased pressure within the eye causes characteristic damage to the optic nerve. Some individuals may have separation of the thin layer of nerve cells (retina) that lines the back of the eyes from its underlying support tissue (retinal detachment). The retina normally senses light and converts it into nerve signals, which are then relayed to the brain through the optic nerve. Retinal detachment may cause blurred vision or the appearance of floaters in the field of vision.In some cases, delays in attaining developmental milestones (developmental delays) may be the first noticeable symptom in children with homocystinuria due to CBS deficiency. Affected children may be slow in sitting, standing, walking and speaking or other milestones. Some children have normal intelligence; others develop varying degrees of mental retardation. Approximately 20 percent of children with homocystinuria due to CBS deficiency develop seizures. Some affected children also exhibit psychiatric issues including depression, anxiety, obsessive-compulsive disorder, and other behavioral or personality disorders.Individuals with homocystinuria due to CBS deficiency also develop a variety of skeletal abnormalities. Skeletal abnormalities are usually not present at birth and may not become detectable until later during childhood. Common findings include thinning and lengthening of the long bones (dolichostenomelia), knees that are bent inward so that they touch when the legs are straight (knock knees or genu valgum), a highly arched foot (pes cavus), abnormal sideways curvature of the spine (scoliosis), or an abnormally protruding chest (pectus carinatum) or an abnormally sunken chest (pectus excavatum). Many individuals with homocystinuria due to CBS deficiency are at a greater risk than the general population of developing osteoporosis. Osteoporosis is condition characterized by a general loss of bone density that can lead to an increased risk of fractures.A serious complication associated with homocystinuria due to CBS deficiency is an increased risk of developing clots (thrombi) in blood vessels that can break off and become lodged in another vessel (thromboembolism). Blood clots can occur at any age. Specific symptoms associated with a thromboembolic event depend on the exact site of the clot and the specific blood vessels and organs that are affected. Thromboemboli can cause serious, life-threatening complications.Although less common, several additional findings have been reported in individuals with homocystinuria due to CBS deficiency including extremely fine, fragile skin, discoloration of the skin (hypopigmentation), rashes on the cheeks (malar flushing) and abnormally thin skin. Some individuals may develop fatty changes in the liver, protrusion of part of the intestines through a tear in the abdominal wall (inguinal hernia) or inflammation of the pancreas (pancreatitis), a small organ located behind the stomach that secretes enzymes that travel to the intestines and aid in digestion. Abnormal front-to-back curvature of the spine (kyphosis) and a collapsed lung (spontaneous pneumothorax) have also been reported in individuals with homocystinuria due to CBS deficiency. - NORD Reference: NORD |
| Synonym | cbs deficiencies cbs deficiency cystathionine beta synthase defic dis cystathionine beta synthase deficiency cystathionine beta synthase deficiency disease cystathionine beta-synthase deficiency cystathionine beta-synthase deficiency (disorder) cystathionine beta-synthase deficiency disease defic dis cystathionine beta synthase deficiencies, cbs deficiency disease, cystathionine beta synthase deficiency disease, cystathionine beta-synthase deficiency of beta-thionase deficiency of cystathionine beta-synthase deficiency of cystathionine beta-synthase (disorder) deficiency of methylcysteine synthase deficiency of serine sulfhydrase deficiency of serine sulphydrase deficiency, cbs homocystinuria with or without response to pyridoxine |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0751202 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 790 |
|---|---|
| Disease | homocystinuria due to cystathionine beta-synthase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:30) HP:0002156 | High urine homocystine levels HP:0040160 | Generalized osteoporosis HP:0000767 | Funnel chest HP:0012075 | Personality disorder HP:0001166 | Long, slender fingers HP:0002299 | Brittle hair HP:0001519 | Dolichostenomelia HP:0000678 | Dental crowding HP:0001083 | Dislocated lenses HP:0001010 | Hypopigmentation of the skin HP:0001249 | Mental retardation HP:0001250 | Seizures HP:0002751 | Kyphoscoliosis HP:0000965 | Livedo reticularis HP:0001658 | Myocardial infarction HP:0000545 | Near sightedness HP:0001733 | Pancreatic inflammation HP:0000218 | Increased palatal height HP:0001508 | Weight faltering HP:0001397 | Hepatic steatosis HP:0001297 | Cerebral vascular events HP:0000023 | Inguinal hernia HP:0001376 | Decreased joint mobility HP:0004586 | Fish vertebrae HP:0001907 | Thromboembolic disease HP:0001634 | Mitral valve prolapse HP:0000098 | Increased body height HP:0000716 | Depression HP:0000501 | Glaucoma HP:0000768 | Pectus carinatum |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 790 |
|---|---|
| Disease | homocystinuria due to cystathionine beta-synthase deficiency |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11700812 | NA | 875 | CBS | umls:C0751202 | UNIPROT | NA | 0.327524428 | NA | CBS | 21 | 43060480 | C | G,T |
| rs117687681 | 12124992 | 875 | CBS | umls:C0751202 | UNIPROT | We determined the molecular basis of CBS deficiency in 36 Australian patients from 28 unrelated families, using direct sequencing of the entire coding region of the CBS gene. | 0.327524428 | 2002 | CBS | 21 | 43060481 | G | A |
| rs121964968 | 8990018 | 875 | CBS | umls:C0751202 | UNIPROT | Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients. | 0.327524428 | 1997 | CBS | 21 | 43053920 | A | G |
| rs28934275 | 22738154 | 875 | CBS | umls:C0751202 | UNIPROT | Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase. | 0.327524428 | 2012 | NA | NA | NA | NA | NA |
| rs28934891 | 23974653 | 875 | CBS | umls:C0751202 | UNIPROT | Our study experimentally supports a deficient regulation of CBS by SAM as a frequently found mechanism in CBS deficiency, which should be considered not only as a valuable diagnostic tool but also as a potential target for the development of new therapeutic approaches in classical homocystinuria. | 0.327524428 | 2013 | CBS | 21 | 43058862 | C | T |
| rs28934892 | 12007221 | 875 | CBS | umls:C0751202 | UNIPROT | High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. | 0.327524428 | 2002 | CBS | 21 | 43058927 | G | A |
| rs34040148 | 11013450 | 875 | CBS | umls:C0751202 | UNIPROT | Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis. | 0.327524428 | 2000 | CBS | 21 | 43068521 | T | G |
| rs5742905 | 23974653 | 875 | CBS | umls:C0751202 | UNIPROT | Our study experimentally supports a deficient regulation of CBS by SAM as a frequently found mechanism in CBS deficiency, which should be considered not only as a valuable diagnostic tool but also as a potential target for the development of new therapeutic approaches in classical homocystinuria. | 0.327524428 | 2013 | CBS | 21 | 43063074 | A | G |
| rs5742905 | 17540596 | 875 | CBS | umls:C0751202 | BeFree | Missense mutations in the cystathionine beta-synthase (CBS) gene, such as I278T, are responsible for CBS deficiency, the most common inherited disorder in sulfur metabolism. | 0.327524428 | 2007 | CBS | 21 | 43063074 | A | G |
GWASdb Annotation(Total Genotypes:5) | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr | Pos | SNP_Id | RefGene | EnsemblGene | ENCODE_Factor | ENCODE_TFBS | Chromosome_interaction | GTEx_eQTL | SNP_TFBS_affinity_GWAS3D | SNP_miRNA_target_affinity_PolymiRTS | SNP_splicing_effect_Skippy | SNP_splicing_effect_MutPred_Splice | SNP_ns_protein_effect_dbNSFP | SNP_syn_effect_Silva | SNP_phosphorylation_effect_PhosSNP | PhastCons_score | PhyloP_score | GERP++_RS | Segway_state | Ancestral_allele | ESP_AF | ESP_AFR | ESP_AFR | ESP_EUR | TG_ASN | TG_AMR | TG_AFR | TG_EUR | Type | Consequence | bStatistic | EncH3K27Ac | EncH3K4Me1 | EncH3K4Me3 | EncNucleo | OMIM | Clinvar |
| 21 | 44475714 | rs2124459 | NM_000071,CBS | NM_001178008,CBS | NM_001178009,CBS | ENST00000461686,ENSG00000160200 | ENST00000398158,ENSG00000160200 | ENST00000398165,ENSG00000160200 | ENST00000359624,ENSG00000160200 | ENST00000352178,ENSG00000160200 | ENST00000398168,ENSG00000160200 | ENST00000451248,ENSG00000160200 | ENST00000462349,ENSG00000160200 | ENST00000491776,ENSG00000160200 | ENST00000458223,ENSG00000160200 | ENST00000430013,ENSG00000160200 | TFP.JUND | TFP.CCNT2 | TFP.CHD2 | TFP.TCF12 | NA | chr21,44470001,44480000,chr21,44490001,44500000,34,Hi-C | chr21,44470001,44480000,chr21,44330001,44340000,35,Hi-C | chr21,44470001,44480000,chr2,118780001,118790000,5,Hi-C | chr21,44470001,44480000,chr5,78230001,78240000,6,Hi-C | chr21,44470001,44480000,chr6,137010001,137020000,9,Hi-C | NA | Ecm22-primary,55.2631 | Mig2-primary,3.1525 | Mig3-primary,3.4776 | Oaf1-DBD-primary,93.0188 | Pbf1-primary,1.332 | NA | NA | NA | NA | NA |
| 21 | 44478497 | rs6586282 | NM_000071,CBS | NM_001178008,CBS | NM_001178009,CBS | ENST00000461686,ENSG00000160200 | ENST00000398158,ENSG00000160200 | ENST00000398165,ENSG00000160200 | ENST00000359624,ENSG00000160200 | ENST00000352178,ENSG00000160200 | ENST00000398168,ENSG00000160200 | ENST00000451248,ENSG00000160200 | ENST00000462349,ENSG00000160200 | ENST00000491776,ENSG00000160200 | ENST00000458223,ENSG00000160200 | ENST00000430013,ENSG00000160200 | ENST00000496485,ENSG00000160200 | TFP.JUND | TFP.CHD2 | MCV-6 | NA | chr21,44470001,44480000,chr21,44490001,44500000,34,Hi-C | chr21,44470001,44480000,chr21,44330001,44340000,35,Hi-C | chr21,44470001,44480000,chr2,118780001,118790000,5,Hi-C | chr21,44470001,44480000,chr5,78230001,78240000,6,Hi-C | chr21,44470001,44480000,chr6,137010001,137020000,9,Hi-C | NA | LM4,2.8309 | LM149,3.0947 | LM202,3.1483 | Arnt,4.4348 | Arnt,1.7991 | NA | NA | NA | NA | NA |
| 21 | 44486964 | rs234709 | NM_000071,CBS | NM_001178008,CBS | NM_001178009,CBS | ENST00000461686,ENSG00000160200 | ENST00000398158,ENSG00000160200 | ENST00000398165,ENSG00000160200 | ENST00000359624,ENSG00000160200 | ENST00000352178,ENSG00000160200 | ENST00000398168,ENSG00000160200 | ENST00000441030,ENSG00000160200 | ENST00000470912,ENSG00000160200 | MCV-4 | NA | NA | NA | Ecm22-primary,1.5406 | Hal9-primary,1.3782 | Hal9-primary,1.3782 | Leu3-primary,2.9572 | Mcm1-primary,9.0579 | NA | NA | NA | NA | NA | NA | 0.000 | -0.638 | -1.6 | GE2 | T | NA | NA | NA | NA |
| 21 | 44487404 | rs2851391 | NM_000071,CBS | NM_001178008,CBS | NM_001178009,CBS | ENST00000461686,ENSG00000160200 | ENST00000398158,ENSG00000160200 | ENST00000398165,ENSG00000160200 | ENST00000359624,ENSG00000160200 | ENST00000352178,ENSG00000160200 | ENST00000398168,ENSG00000160200 | ENST00000441030,ENSG00000160200 | ENST00000470912,ENSG00000160200 | MCV-1 | NA | NA | NA | LM130,2.5091 | NR2F1,2.3865 | GGGYGTGNY,1.9555 | RNCTGNYNRNCTGNY,1.4583 | CTCNANGTGNY,1.7785 | NA | NA | NA | NA | NA | NA | 0.001 | -0.169 | -0.475 | GE2 | C | NA | NA | NA | NA |
| 21 | 44488033 | rs234714 | NM_000071,CBS | NM_001178008,CBS | NM_001178009,CBS | ENST00000461686,ENSG00000160200 | ENST00000398158,ENSG00000160200 | ENST00000398165,ENSG00000160200 | ENST00000359624,ENSG00000160200 | ENST00000352178,ENSG00000160200 | ENST00000398168,ENSG00000160200 | ENST00000441030,ENSG00000160200 | ENST00000470912,ENSG00000160200 | ENST00000465732,ENSG00000160200 | ENST00000488526,ENSG00000160200 | NA | NA | NA | NA | Asg1-DBD-primary,1.7312 | Mig1-primary,3.3888 | Nkx2-4_3074,4.6457 | Pho4-primary,10.0022 | Pho4-primary,15.8125 | NA | NA | NA | NA | NA | NA | 0.001 | 0.901 | 1.08 | GE2 | C | NA | NA |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001376 | Limitation of joint mobility | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0004586 | Biconcave vertebral bodies | MP:0004703 | abnormal vertebral column morphology | any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord |
| HP:0001010 | Hypopigmentation of the skin | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0040160 | Generalized osteoporosis | MP:0000066 | osteoporosis | reduction in bone mass or atrophy of skeletal tissue; may lead to skeletal fragility |
| HP:0000023 | Inguinal hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0001083 | Ectopia lentis | MP:0005263 | ectopia lentis | congenital displacement of the lens due to defective zonule formation |
| HP:0002299 | Brittle hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0001634 | Mitral valve prolapse | MP:0010617 | thick mitral valve cusps | an increase in the ratio of the mitral valve cusp wall thickness to the atrioventricular septum thickness |
Mapped by homologous gene(Total Items:30) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001634 | Mitral valve prolapse | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000098 | Tall stature | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001376 | Limitation of joint mobility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000501 | Glaucoma | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002156 | Homocystinuria | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0001907 | Thromboembolism | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001297 | Stroke | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000768 | Pectus carinatum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0012075 | Personality disorder | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0000767 | Pectus excavatum | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002751 | Kyphoscoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0040160 | Generalized osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002299 | Brittle hair | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0004586 | Biconcave vertebral bodies | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001166 | Arachnodactyly | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001658 | Myocardial infarction | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000545 | Myopia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001733 | Pancreatitis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0001397 | Hepatic steatosis | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000678 | Dental crowding | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000023 | Inguinal hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000965 | Cutis marmorata | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0001083 | Ectopia lentis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001519 | Disproportionate tall stature | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0001010 | Hypopigmentation of the skin | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| Disease ID | 790 |
|---|---|
| Disease | homocystinuria due to cystathionine beta-synthase deficiency |
| Case | (Waiting for update.) |