eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| epidermal nevus syndrome | ||||
| Disease ID | 1551 |
|---|---|
| Disease | epidermal nevus syndrome |
| Definition | Epidermal nevus syndrome (also known as Feuerstein and Mims syndrome,[1][2] and Solomon's syndrome[1]:775[3]) was first described in 1968, and consists of extensive epidermal nevi with abnormalities of the CNS, skeleton, skin, cardiovascular system, genitourinary system, and eyes.[2]:634 However, since the syndrome's first description, a broader concept for the epidermal nevus syndrome has been proposed, with at least six types being described:[1]:776[4] - Wikipedia Reference: https://en.wikipedia.org/wiki/epidermal nevus syndrome |
| Synonym | epidermal naevus syndrome feuerstein mims syndrome feuerstein-mims syndrome jadassohn nevus phakomatosis linear nevus sebaceous syndrome linear sebaceous nevus syndrome linear verrucous epidermal nevus nevus phakomatoses, organoid nevus phakomatosis, organoid nevus sebaceous jadassohn nevus sebaceous of jadassohn nevus sebaceous syndrome organoid nevus phakomatoses organoid nevus phakomatosis organoid nevus syndrome phakomatoses, organoid nevus phakomatosis, organoid nevus schimmelpenning feuerstein mims syndrome schimmelpenning syndrome schimmelpenning-feuerstein-mims syndrome sebaceous nevus of jadassohn sebaceous nevus syndrome solomon syndrome syndrome, feuerstein-mims syndrome, schimmelpenning syndrome, schimmelpenning-feuerstein-mims |
| Orphanet | |
| OMIM | |
| UMLS | C0265329 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:9) C1704375 | hypophosphatemic rickets | 4 C0035579 | rickets | 3 C0023798 | lipoma | 1 C1136033 | cutaneous mastocytosis | 1 C0025362 | mental retardation | 1 C0339204 | staphyloma | 1 C0003857 | arteriovenous malformation | 1 C0334082 | epidermal nevus | 1 C0730290 | cone dystrophy | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1551 |
|---|---|
| Disease | epidermal nevus syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:51) HP:0003109 | Hyperphosphaturia HP:0000938 | Decreased bone mineral density HP:0001263 | Global developmental delay HP:0001167 | Abnormalities of the fingers HP:0000826 | Precocious puberty HP:0012032 | Lipoma HP:0006827 | Atrophy of the spinal cord HP:0007206 | Hemimegalencephaly HP:0007199 | Progressive spastic paraparesis HP:0012531 | Pain HP:0000267 | Cranial asymmetry HP:0002944 | Thoracolumbar scoliosis HP:0000953 | Hyperpigmentation of the skin HP:0002176 | Spinal cord compression HP:0000602 | Ophthalmoplegia HP:0003487 | Babinski sign HP:0000750 | Delayed speech and language development HP:0010815 | Sebaceous naevus HP:0007957 | Corneal clouding HP:0004322 | Stature below 3rd percentile HP:0010302 | Spinal cord tumor HP:0001680 | Coarctation of aorta HP:0001780 | Abnormality of toe HP:0011073 | Abnormality of dental color HP:0001010 | Hypopigmentation of the skin HP:0001548 | Overgrowth HP:0001276 | Hypertonia HP:0001249 | Mental retardation HP:0001250 | Seizures HP:0002751 | Kyphoscoliosis HP:0002859 | Rhabdomyosarcoma HP:0001284 | Areflexia HP:0006482 | Dental malformations HP:0000589 | Ocular coloboma HP:0000483 | Astigmatism HP:0002757 | Multiple fractures HP:0000938 | Osteopenia HP:0001999 | Abnormal facial shape HP:0003764 | Nevus HP:0001028 | Strawberry mark HP:0003416 | Spinal canal stenosis HP:0012443 | Abnormality of brain morphology HP:0000085 | Horseshoe kidney HP:0100512 | Vitamin D deficiency HP:0001596 | Hair loss HP:0000505 | Visual impairment HP:0000113 | Polycystic kidney dysplasia HP:0009077 | Weakness of long finger extensor muscles HP:0004912 | Hypophosphatemic rickets HP:0008064 | Ichthyosis HP:0002671 | Basalioma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:17) HP:0004912 | Hypophosphatemic rickets | 4 HP:0003764 | Naevus | 3 HP:0002748 | Rickets | 3 HP:0001057 | Aplasia cutis congenita | 1 HP:0200151 | Cutaneous mastocytosis | 1 HP:0010310 | Chylothorax | 1 HP:0001249 | Mental retardation | 1 HP:0010816 | Epidermal nevus | 1 HP:0002438 | Cerebellar malformation | 1 HP:0010815 | Sebaceous naevus | 1 HP:0002390 | Spinal arteriovenous malformation | 1 HP:0030854 | Scleral staphyloma | 1 HP:0000510 | Retinitis pigmentosa | 1 HP:0001250 | Seizures | 1 HP:0100026 | Arteriovenous malformation | 1 HP:0012032 | Lipoma | 1 HP:0012721 | Venous malformations | 1 |
| Disease ID | 1551 |
|---|---|
| Disease | epidermal nevus syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:10) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913529 | 25928347 | 3845 | KRAS | umls:C3179502 | BeFree | We identified a mosaic c.35G > A (p.Gly12Asp) KRAS mutation in the pigmented verrucous epidermal nevus tissue, the intraneural schwann cells and the lipoma. | 0.000271442 | 2015 | KRAS | 12 | 25245350 | C | T,G,A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004912 | Hypophosphatemic rickets | MP:0003116 | rickets | overproduction and deficient calcification of osteoid tissue due to vitamin D deficiency; can lead to skeletal deformities, growth defects, hypocalcemia, and sometimes tetany; skeletal fractures occur frequently |
| HP:0011073 | Abnormality of dental color | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000085 | Horseshoe kidney | MP:0011441 | decreased kidney cell proliferation | decrease in the expansion rate of any kidney cell population by cell division |
| HP:0001999 | Abnormal facial shape | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0000113 | Polycystic kidney dysplasia | MP:0011565 | kidney papillary hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the apex of the renal pyramid that normally projects into a calyx |
| 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:0002671 | Basal cell carcinoma | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0001167 | Abnormality of finger | MP:0008158 | increased diameter of femur | increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge |
| HP:0000953 | Hyperpigmentation of the skin | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0003416 | Spinal canal stenosis | MP:0010884 | esophagus stenosis | abnormal narrowing or constriction of the esophagus |
| HP:0006482 | Abnormality of dental morphology | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0007957 | Corneal opacity | MP:0009859 | eye opacity | changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life |
| HP:0000750 | Delayed speech and language development | MP:0012251 | abnormal diaphragm development | malformation or incomplete differentiation of the thin musculomembranous barrier separating the abdominal and thoracic cavities and functioning in respiration |
| HP:0001680 | Coarctation of aorta | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0001780 | Abnormality of toe | MP:0004842 | abnormal large intestine crypts of Lieberkuhn morphology | any structural anomaly of the tubular intestinal glands found in the mucosal membranes of the large intestine |
| HP:0010302 | Spinal cord tumor | MP:0009277 | increased brain tumor incidence | greater than the expected number of abnormal rapidly proliferating cells in the brain, usually in the form of a distinct mass, occurring in a specific population in a given time period |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
Mapped by homologous gene(Total Items:47) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004912 | Hypophosphatemic rickets | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0012531 | Pain | MP:0011968 | decreased threshold for auditory brainstem response | reduction in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system |
| HP:0001028 | Hemangioma | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0000602 | Ophthalmoplegia | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0002859 | Rhabdomyosarcoma | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0002944 | Thoracolumbar scoliosis | MP:0012062 | small tail bud | decreased size or area of the primordial region of the embryo that arises to form the tail of the adult |
| HP:0001548 | Overgrowth | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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:0001284 | Areflexia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000085 | Horseshoe kidney | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0003109 | Hyperphosphaturia | MP:0013774 | decreased KLRG1-positive T-helper cell number | reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation |
| HP:0000267 | Cranial asymmetry | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001680 | Coarctation of aorta | 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:0004322 | Short stature | 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:0002671 | Basal cell carcinoma | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| HP:0010815 | Nevus sebaceous | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0000953 | Hyperpigmentation 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 |
| HP:0000938 | Osteopenia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007957 | Corneal opacity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0010302 | Spinal cord tumor | MP:0013611 | abnormal bile duct epithelium morphology | any structural anomaly of the epithelium lining the intrahepatic and extrahepatic bile ducts |
| HP:0001999 | Abnormal facial shape | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0006827 | Atrophy of the spinal cord | MP:0011098 | embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0000483 | Astigmatism | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0011073 | Abnormality of dental color | 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:0001263 | Global developmental delay | 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:0002751 | Kyphoscoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001276 | Hypertonia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000826 | Precocious puberty | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0001167 | Abnormality of finger | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0002176 | Spinal cord compression | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003764 | Nevus | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0000113 | Polycystic kidney dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0012032 | Lipoma | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0000589 | Coloboma | 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:0100512 | Vitamin D deficiency | MP:0002169 | no abnormal phenotype detected | normal viability, fertility, appearance and behavior; reported phenotype is indistinguishable from controls |
| HP:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003416 | Spinal canal stenosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000750 | Delayed speech and language development | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003487 | Babinski sign | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007206 | Hemimegalencephaly | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0000505 | Visual impairment | 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:0001780 | Abnormality of toe | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0006482 | Abnormality of dental morphology | MP:0014176 | abnormal cilary zonule morphology | any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment |
| HP:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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 | 1551 |
|---|---|
| Disease | epidermal nevus syndrome |
| Case | (Waiting for update.) |