eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| scalp-ear-nipple syndrome | ||||
| Disease ID | 1678 |
|---|---|
| Disease | scalp-ear-nipple syndrome |
| Definition | Syndrome with characteristics of the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent hypoplastic ears with almost absent pinna and bilateral amastia. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant. |
| Synonym | finlay marks syndrome finlay-marks syndrome hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples scalp ear nipple syndrome scalp, ear, nipple syndrome scalp, ear, nipple syndrome (disorder) sens |
| Orphanet | |
| OMIM | |
| UMLS | C1867020 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) KCTD1 | 18q11.2 |
| Disease ID | 1678 |
|---|---|
| Disease | scalp-ear-nipple syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:25) HP:0000518 | Cataract HP:0000625 | Cleft eyelid HP:0000010 | Recurrent urinary tract infections HP:0001965 | Abnormality of the scalp HP:0000506 | Telecanthus HP:0011251 | Underdeveloped antitragus HP:0006709 | Aplasia/Hypoplasia of the nipples HP:0000822 | Hypertension HP:0000164 | Abnormality of the teeth HP:0000684 | Delayed eruption of teeth HP:0100651 | Type I diabetes mellitus HP:0012330 | Pyelonephritis HP:0009738 | Abnormality of the antihelix HP:0000077 | Abnormality of the kidney HP:0000966 | Hypohidrosis HP:0000951 | Abnormality of the skin HP:0008070 | Sparse hair HP:0100783 | Breast aplasia HP:0005580 | Duplication of renal pelvis HP:0000385 | Small earlobe HP:0000073 | Ureteral duplication HP:0008551 | Microtia HP:0011272 | Underdeveloped tragus HP:0001231 | Abnormality of the fingernails HP:0100540 | Palpebral edema |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1678 |
|---|---|
| Disease | scalp-ear-nipple syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs587776998 | NA | 284252 | KCTD1 | umls:C1867020 | CLINVAR | NA | 0.360271442 | NA | KCTD1 | 18 | 26501147 | G | T |
| rs587776999 | NA | 284252 | KCTD1 | umls:C1867020 | CLINVAR | NA | 0.360271442 | NA | KCTD1 | 18 | 26501144 | G | A,C,T |
| rs587777000 | NA | 284252 | KCTD1 | umls:C1867020 | CLINVAR | NA | 0.360271442 | NA | KCTD1 | 18 | 26501137 | G | A,T |
| rs587777001 | NA | 284252 | KCTD1 | umls:C1867020 | CLINVAR | NA | 0.360271442 | NA | KCTD1 | 18 | 26501138 | T | G |
| rs587777002 | NA | 284252 | KCTD1 | umls:C1867020 | CLINVAR | NA | 0.360271442 | NA | KCTD1 | 18 | 26476603 | T | G |
| rs587777003 | NA | 284252 | KCTD1 | umls:C1867020 | CLINVAR | NA | 0.360271442 | NA | KCTD1 | 18 | 26476639 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008070 | Sparse hair | MP:0010202 | focal dorsal hair loss | focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | 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:0100540 | Palpebral edema | MP:0001786 | skin edema | accumulation of an excessive amount of fluid in the skin layers or just underneath the skin |
| HP:0100651 | Type I diabetes mellitus | MP:0004803 | increased susceptibility to autoimmune diabetes | greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas |
| HP:0001231 | Abnormality of the fingernails | 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:0001965 | Abnormality of the scalp | MP:0003408 | increased width of hypertrophic chondrocyte zone | increased width of cartilage cell matrix layer |
| HP:0000073 | Ureteral duplication | MP:0012156 | rostral-caudal axis duplication | partial or complete duplication of rostral-caudal axis structures |
| HP:0000625 | Cleft eyelid | MP:0003153 | early eyelid opening | early average time for the first postnatal eye opening |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0000951 | Abnormality of the skin | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0009738 | Abnormality of the antihelix | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0005580 | Duplication of renal pelvis | MP:0002705 | dilated renal tubules | stretched or widened aperture of the luminal space of the loops of Henle, the proximal convoluted tubule or the distal convoluted tubule |
| HP:0000010 | Recurrent urinary tract infections | 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:0000684 | Delayed eruption of teeth | 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:0000077 | Abnormality of the kidney | 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 |
Mapped by homologous gene(Total Items:24) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0012330 | Pyelonephritis | MP:0011405 | tubulointerstitial nephritis | diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | 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:0009738 | Abnormality of the antihelix | 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:0008551 | Microtia | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000506 | Telecanthus | 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:0011272 | Underdeveloped tragus | MP:0011495 | abnormal head shape | any anomaly in the characteristic surface outline or contour of a head of an organism |
| HP:0000625 | Cleft eyelid | 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:0000518 | Cataract | 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:0001231 | Abnormality of the fingernails | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000077 | Abnormality of the kidney | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0100783 | Breast aplasia | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000966 | Hypohidrosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100651 | Type I diabetes mellitus | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0100540 | Palpebral edema | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000684 | Delayed eruption of teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000073 | Ureteral duplication | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001965 | Abnormality of the scalp | MP:0013292 | embryonic lethality prior to organogenesis | death prior to the completion of embryo turning (Mus: E9-9.5) |
| HP:0008070 | Sparse 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:0000010 | Recurrent urinary tract infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000385 | Small earlobe | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0005580 | Duplication of renal pelvis | MP:0011520 | increased placental labyrinth size | increase in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood |
| HP:0000951 | Abnormality of the skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| Disease ID | 1678 |
|---|---|
| Disease | scalp-ear-nipple syndrome |
| Case | (Waiting for update.) |