eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| adams oliver syndrome | ||||
| Disease ID | 1020 |
|---|---|
| Disease | adams oliver syndrome |
| Definition | Adams-Oliver syndrome (AOS) is an extremely rare inherited disorder characterized by defects of the scalp and abnormalities of the fingers, toes, arms, and/or legs. The physical abnormalities associated with this disorder vary greatly among affected individuals. Some cases may be very mild while others may be severe. In infants with Adams-Oliver syndrome, scalp defects are present at birth (congenital) and may include one or multiple hairless scarred areas that may have abnormally wide (dilated) blood vessels directly under the affected skin. In severe cases, an underlying defect of the bones of the skull may also be present. In addition, infants with this disorder typically have malformations of the hands, arms, feet, and/or legs. These range from abnormally short (hypoplastic) fingers and toes to absent hands and/or lower legs. In some cases, additional abnormalities may also be present. Most cases of AOS appear to follow autosomal dominant inheritance but autosomal recessive inheritance has also been reported. - NORD Reference: NORD |
| Synonym | absence defect of limbs, scalp, and skull adam oliver syndrome adam oliver syndromes adams-oliver syndrome adams-oliver syndrome (disorder) adams-oliver syndrome 1 aos aos1 aplasia cutis congenita with terminal transverse limb defects congenital absence of skin on scalp with limb-reduction anomaly congenital defect of skull and scalp congenital scalp defects with distal limb reduction anomalies familial aplasia cutis congenita of the scalp scalp and head syndrome scalp defects with ectrodactyly syndrome adams-oliver type 2 aplasia cutis |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0265268 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:7) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:14) 257 | ALX3 | 2.457 | DISEASES 60529 | ALX4 | 2.927 | DISEASES 23545 | ATP6V0A2 | 2.564 | DISEASES 23462 | HEY1 | 2.394 | DISEASES 3239 | HOXD13 | 2.346 | DISEASES 3339 | HSPG2 | 1.527 | DISEASES 9636 | ISG15 | 3.277 | DISEASES 57591 | MKL1 | 2.352 | DISEASES 4487 | MSX1 | 2.207 | DISEASES 4745 | NELL1 | 3.1 | DISEASES 8473 | OGT | 4.271 | DISEASES 3516 | RBPJ | 4.327 | DISEASES 860 | RUNX2 | 1.118 | DISEASES 55906 | ZC4H2 | 3.847 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1020 |
|---|---|
| Disease | adams oliver syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:35) HP:0002558 | accessory mamilla HP:0002079 | Hypoplasia of the corpus callosum HP:0007590 | Aplasia cutis congenita over posterior parietal area HP:0001770 | Toe syndactyly HP:0001792 | Hypoplastic nails HP:0000565 | Inward turning of one or both eyes HP:0001629 | Ventricular septal defects HP:0007589 | Aplasia cutis congenita on trunk or limbs HP:0001362 | Cranial defect HP:0002092 | Pulmonary artery hypertension HP:0001762 | Talipes equinovarus HP:0002084 | Bifid skull HP:0001302 | Cerebral pachygyria HP:0000204 | Cleft upper lip HP:0001636 | Tetrology of fallot HP:0002539 | Cortical dysplasia HP:0001642 | Pulmonic stenosis HP:0000175 | Palatoschisis HP:0001249 | Mental retardation HP:0001252 | Hypotonia HP:0001631 | Atria septal defect HP:0001250 | Seizures HP:0006970 | Periventricular leukomalacia HP:0000252 | Small head circumference HP:0001263 | Developmental retardation HP:0000965 | Livedo reticularis HP:0004383 | Underdeveloped left heart HP:0004415 | Pulmonary artery stenosis HP:0001647 | Bicuspid aortic valve HP:0001156 | Brachydactyly HP:0001596 | Hair loss HP:0002126 | Polymicrogyria HP:0000568 | Abnormally small globe of eye HP:0001650 | Valvular aortic stenosis HP:0002119 | Ventricular dilatation |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0030680 | Abnormality of cardiovascular system morphology | 2 HP:0001644 | Congestive cardiomyopathy | 1 HP:0001638 | Cardiomyopathy | 1 HP:0001134 | Anterior polar cataract | 1 HP:0100033 | Tic disorder | 1 HP:0001362 | Cranial defect | 1 HP:0001627 | Congenital heart defects | 1 HP:0010696 | Polar cataract | 1 HP:0001660 | Common arterial trunk | 1 HP:0001057 | Aplasia cutis congenita | 1 |
| Disease ID | 1020 |
|---|---|
| Disease | adams oliver 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:11) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs587776994 | NA | 285203 | EOGT | umls:C0265268 | CLINVAR | NA | 0.240814326 | NA | EOGT | 3 | 68988304 | T | - |
| rs61750844 | NA | 54567 | DLL4 | umls:C0265268 | CLINVAR | NA | 0.240271442 | NA | DLL4 | 15 | 40936659 | C | T |
| rs730882238 | NA | 57572 | DOCK6 | umls:C0265268 | CLINVAR | NA | 0.240814326 | NA | DOCK6 | 19 | 11243279 | AGTT | - |
| rs796065344 | NA | 54567 | DLL4 | umls:C0265268 | CLINVAR | NA | 0.240271442 | NA | DLL4 | 15 | 40936647 | C | T |
| rs796065345 | NA | 54567 | DLL4 | umls:C0265268 | CLINVAR | NA | 0.240271442 | NA | DLL4 | 15 | 40936352 | C | G |
| rs796065346 | NA | 54567 | DLL4 | umls:C0265268 | CLINVAR | NA | 0.240271442 | NA | DLL4 | 15 | 40935046 | G | A |
| rs796065347 | NA | 54567 | DLL4 | umls:C0265268 | CLINVAR | NA | 0.240271442 | NA | DLL4 | 15 | 40935045 | T | C |
| rs796065348 | NA | 54567 | DLL4 | umls:C0265268 | CLINVAR | NA | 0.240271442 | NA | DLL4 | 15 | 40931664 | C | T |
| rs796065349 | NA | 54567 | DLL4 | umls:C0265268 | CLINVAR | NA | 0.240271442 | NA | DLL4 | 15 | 40932396 | C | A |
| rs796065350 | NA | 54567 | DLL4 | umls:C0265268 | CLINVAR | NA | 0.240271442 | NA | DLL4 | 15 | 40930649 | G | C |
| rs796065351 | NA | 54567 | DLL4 | umls:C0265268 | CLINVAR | NA | 0.240271442 | NA | DLL4 | 15 | 40931691 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:16) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001362 | Skull defect | MP:0010418 | perimembraneous ventricular septal defect | abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated wi |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0001650 | Aortic valve stenosis | MP:0010618 | enlarged mitral valve | an increase in the total area occupied by the mitral valve |
| HP:0001636 | Tetralogy of Fallot | 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:0002079 | Hypoplasia of the corpus callosum | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0001642 | Pulmonic stenosis | MP:0010449 | heart right ventricle outflow tract stenosis | abnormal constriction or narrowing of part of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0004383 | Hypoplastic left heart | MP:0012515 | abnormal heart apex morphology | any structural anomaly of the lowest superficial part of the heart, normally directed downward, forward, and to the left, and overlapped by the left lung and pleura; the heart apex is formed by the inferolateral part of the left ventricle and responsible |
| HP:0001629 | Ventricular septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0001631 | Atria septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0004415 | Pulmonary artery stenosis | MP:0012730 | abnormal internal carotid artery morphology | any structural anomaly of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| 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: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:0001647 | Bicuspid aortic valve | MP:0010620 | thick mitral valve | an increase in the ratio of the mitral valve wall thickness to the atrioventricular septum thickness |
Mapped by homologous gene(Total Items:35) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0002126 | Polymicrogyria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001647 | Bicuspid aortic valve | 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:0001362 | Skull defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001302 | Pachygyria | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001631 | Atria septal defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001629 | Ventricular septal defect | 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:0004383 | Hypoplastic left heart | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001770 | Toe syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000204 | Cleft upper lip | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002084 | Encephalocele | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0004415 | Pulmonary artery stenosis | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0000565 | Esotropia | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001650 | Aortic valve stenosis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002558 | Supernumerary nipple | MP:0013550 | abnormal secondary palate morphology | |
| HP:0001636 | Tetralogy of Fallot | MP:0014117 | increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| 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:0000568 | Microphthalmia | 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: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: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:0001642 | Pulmonic stenosis | MP:0020040 | decreased bone ossification | decrease 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:0007590 | Aplasia cutis congenita over posterior parietal area | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0002539 | Cortical dysplasia | MP:0014115 | cognitive inflexibility | inability to change attention or a cognitive behavior as an adaptation to the demands of external stimuli |
| HP:0002079 | Hypoplasia of the corpus callosum | 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:0001762 | Talipes equinovarus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006970 | Periventricular leukomalacia | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0007589 | Aplasia cutis congenita on trunk or limbs | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0000252 | Microcephaly | 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: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:0001792 | Small nail | 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:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 1020 |
|---|---|
| Disease | adams oliver syndrome |
| Case | (Waiting for update.) |