eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| autosomal dominant popliteal pterygium syndrome | ||||
| Disease ID | 1457 |
|---|---|
| Disease | autosomal dominant popliteal pterygium syndrome |
| Definition | A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora. |
| Synonym | autosomal dominant popliteal pterygium syndrome (disorder) cleft lip-palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies facio-genito-popliteal syndrome faciogenitopopliteal syndrome popliteal pterygium syndrome popliteal pterygium syndrome (disorder) popliteal pterygium syndrome [dup] (disorder) popliteal web syndrome popliteal web syndrome (disorder) pps pps - popliteal pterygium syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0265259 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:8) |
| Locus | Symbol | Locus(Total Locus:1) IRF6 | 1q32.2 |
| Disease ID | 1457 |
|---|---|
| Disease | autosomal dominant popliteal pterygium syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:38) HP:0000028 | Cryptorchidism HP:0009755 | Eyelid synechiae HP:0009758 | Pyramidal skinfold extending from the base to the top of the nails HP:0009757 | Intercrural pterygium HP:0000453 | Choanal atresia HP:0001770 | Toe syndactyly HP:0008288 | Nonketotic hyperglycinemia HP:0001171 | Split hand HP:0009754 | Alveolar synechiae HP:0000347 | Micrognathia HP:0006101 | Finger syndactyly HP:0003298 | Spina bifida occulta HP:0000013 | Underdeveloped uterus HP:0001762 | Talipes equinovarus HP:0000204 | Cleft upper lip HP:0000062 | Ambiguous genitalia HP:0000772 | Abnormality of the ribs HP:0000175 | Palatoschisis HP:0000059 | Hypoplastic labia majora HP:0100335 | Non-midline cleft lip HP:0000048 | Bifid scrotum HP:0000175 | Cleft palate HP:0002650 | Scoliosis HP:0000046 | Scrotal hypoplasia HP:0000196 | Lower lip pit HP:0000726 | Dementia HP:0002230 | Generalized hirsutism HP:0100267 | Lip pit HP:0000046 | Hypoplastic scrotum HP:0001597 | Abnormality of the nail HP:0010554 | Cutaneous syndactyly of hands HP:0000219 | Thin upper lip vermilion HP:0001387 | Joint stiffness HP:0009755 | Ankyloblepharon HP:0008726 | Underdeveloped vagina HP:0001328 | Specific learning disability HP:0009754 | Fibrous syngnathia HP:0009756 | Popliteal pterygium |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1457 |
|---|---|
| Disease | autosomal dominant popliteal pterygium 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 |
| rs121434225 | NA | 3664 | IRF6 | umls:C0265259 | CLINVAR | NA | 0.563257302 | NA | IRF6 | 1 | 209789669 | G | A |
| rs121434226 | NA | 3664 | IRF6 | umls:C0265259 | CLINVAR | NA | 0.563257302 | NA | IRF6 | 1 | 209796477 | G | A |
| rs121434227 | NA | 3664 | IRF6 | umls:C0265259 | CLINVAR | NA | 0.563257302 | NA | IRF6 | 1 | 209796476 | C | T,A |
| rs121434231 | NA | 3664 | IRF6 | umls:C0265259 | CLINVAR | NA | 0.563257302 | NA | IRF6 | 1 | 209790539 | C | A |
| rs387906967 | NA | 3664 | IRF6 | umls:C0265259 | CLINVAR | NA | 0.563257302 | NA | IRF6 | 1 | 209801349 | A | G |
| rs387906968 | NA | 3664 | IRF6 | umls:C0265259 | CLINVAR | NA | 0.563257302 | NA | IRF6 | 1 | 209788553 | 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:20) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001328 | Specific learning disability | MP:0002802 | abnormal discrimination learning | anomaly in the ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0000062 | Ambiguous genitalia | MP:0009202 | small external male genitalia | reduced size of the external masculine genital organs |
| HP:0000196 | Lower lip pit | MP:0006306 | abnormal nasal pit morphology | any structural anomaly of one or both of a pair of depressions formed in the developing face that give rise to the rostral portion of the nasal meatus; the nasal pits indent the fronto-nasal process and divide it into a medial and two lateral nasal proces |
| HP:0010554 | Cutaneous finger syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0000048 | Bifid scrotum | MP:0002670 | absent scrotum | missing the external sac of skin that encloses the testes |
| HP:0000772 | Abnormality of the ribs | 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:0000219 | Thin upper lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0000046 | Scrotal hypoplasia | MP:0006226 | iris hypoplasia | underdevelopment or reduced size of the iris, usually due to a reduced number of cells |
| HP:0008726 | Hypoplasia of the vagina | MP:0009886 | failure of palatal shelf elevation | the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| HP:0003298 | Spina bifida occulta | MP:0005297 | spina bifida occulta | defective closure of the laminae of the vertebral column in the lumbosacral region without hernial protrusion of the spinal cord or meninges; the mildest, most common and often asymptomatic form of spina bifida, identified externally by a skin depression |
| HP:0009758 | Pyramidal skinfold extending from the base to the top of the nails | MP:0009886 | failure of palatal shelf elevation | the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| HP:0000013 | Hypoplasia of the uterus | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0006101 | Finger syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0000204 | Cleft upper lip | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000453 | Choanal atresia | MP:0009510 | cecal atresia | congenital blockage or absence of the lumen of the cecum |
| HP:0001770 | Toe syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0100335 | Non-midline cleft lip | MP:0008797 | facial cleft | a cleft resulting from incomplete merging or fusion of any of the embryonic facial processes that normally unite to form the face |
Mapped by homologous gene(Total Items:33) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0010554 | Cutaneous finger syndactyly | 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:0100267 | Lip pit | MP:0013818 | abnormal oral cavity morphology | any structural anomaly of the anatomical cavity at the start of the digestive tract that is enclosed by the mouth |
| HP:0009758 | Pyramidal skinfold extending from the base to the top of the nails | MP:0013818 | abnormal oral cavity morphology | any structural anomaly of the anatomical cavity at the start of the digestive tract that is enclosed by the mouth |
| HP:0000048 | Bifid scrotum | 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:0009755 | Ankyloblepharon | 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:0000453 | Choanal atresia | 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:0009754 | Fibrous syngnathia | MP:0013818 | abnormal oral cavity morphology | any structural anomaly of the anatomical cavity at the start of the digestive tract that is enclosed by the mouth |
| HP:0000046 | Scrotal hypoplasia | 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:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000062 | Ambiguous genitalia | 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:0000772 | Abnormality of the ribs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001770 | Toe syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000013 | Hypoplasia of the uterus | 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:0000028 | Cryptorchidism | 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:0000204 | Cleft upper lip | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008726 | Hypoplasia of the vagina | 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:0001171 | Split hand | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002230 | Generalized hirsutism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001328 | Specific learning disability | 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:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000059 | Hypoplastic labia majora | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| HP:0000175 | Cleft palate | 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:0000196 | Lower lip pit | MP:0013818 | abnormal oral cavity morphology | any structural anomaly of the anatomical cavity at the start of the digestive tract that is enclosed by the mouth |
| HP:0009756 | Popliteal pterygium | MP:0013818 | abnormal oral cavity morphology | any structural anomaly of the anatomical cavity at the start of the digestive tract that is enclosed by the mouth |
| HP:0003298 | Spina bifida occulta | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001762 | Talipes equinovarus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000726 | Dementia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009757 | Intercrural pterygium | MP:0013818 | abnormal oral cavity morphology | any structural anomaly of the anatomical cavity at the start of the digestive tract that is enclosed by the mouth |
| HP:0000219 | Thin upper lip vermilion | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0100335 | Non-midline cleft lip | MP:0014051 | abnormal maxillary-premaxillary suture morphology | any structural anomaly of the line of union of the two portions of the maxilla (pre- and postmaxilla) |
| Disease ID | 1457 |
|---|---|
| Disease | autosomal dominant popliteal pterygium syndrome |
| Case | (Waiting for update.) |