eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acrocallosal syndrome | ||||
| Disease ID | 709 |
|---|---|
| Disease | acrocallosal syndrome |
| Definition | Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation. |
| Synonym | acls acrocallosal syndrome (disorder) acrocallosal syndrome [disease/finding] acrocallosal syndromes hallux duplication, postaxial polydactyly, and absence of corpus callosum syndrome, acrocallosal syndromes, acrocallosal |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0796147 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:40) 176 | ACAN | 2.153 | DISEASES 257 | ALX3 | 1.755 | DISEASES 633 | BGN | 2.202 | DISEASES 659 | BMPR2 | 1.216 | DISEASES 83605 | CCM2 | 1.644 | DISEASES 23607 | CD2AP | 1.793 | DISEASES 958 | CD40 | 1.008 | DISEASES 959 | CD40LG | 2.89 | DISEASES 960 | CD44 | 1.183 | DISEASES 1270 | CNTF | 1.147 | DISEASES 2022 | ENG | 1.988 | DISEASES 2115 | ETV1 | 1.635 | DISEASES 2118 | ETV4 | 1.441 | DISEASES 2153 | F5 | 1.376 | DISEASES 2258 | FGF13 | 1.731 | DISEASES 2331 | FMOD | 1.911 | DISEASES 2737 | GLI3 | 3.701 | DISEASES 3039 | HBA1 | 1.292 | DISEASES 219844 | HYLS1 | 1.787 | DISEASES 3397 | ID1 | 1.155 | DISEASES 374654 | KIF7 | 5.492 | DISEASES 54900 | LAX1 | 3.248 | DISEASES 4312 | MMP1 | 1.072 | DISEASES 4814 | NINJ1 | 2.612 | DISEASES 190 | NR0B1 | 1.116 | DISEASES 103752588 | PACERR | 1.865 | DISEASES 5154 | PDGFA | 1.193 | DISEASES 8544 | PIR | 3.246 | DISEASES 10216 | PRG4 | 1.445 | DISEASES 5725 | PTBP1 | 1.69 | DISEASES 58155 | PTBP2 | 2.253 | DISEASES 54101 | RIPK4 | 2.584 | DISEASES 6256 | RXRA | 1.542 | DISEASES 6628 | SNRPB | 1.584 | DISEASES 79921 | TCEAL4 | 4.293 | DISEASES 7124 | TNF | 1.039 | DISEASES 64102 | TNMD | 2.663 | DISEASES 9760 | TOX | 1.552 | DISEASES 7179 | TPTE | 2.313 | DISEASES 157680 | VPS13B | 1.72 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 709 |
|---|---|
| Disease | acrocallosal syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:18) HP:0000028 | Cryptorchidism HP:0000047 | Hypospadias HP:0000889 | Abnormality of the clavicle HP:0000098 | Tall stature HP:0007360 | Aplasia/Hypoplasia of the cerebellum HP:0010864 | Intellectual disability, severe HP:0007370 | Aplasia/Hypoplasia of the corpus callosum HP:0000256 | Macrocephaly HP:0000269 | Prominent occiput HP:0001199 | Triphalangeal thumb HP:0000260 | Wide anterior fontanel HP:0000316 | Hypertelorism HP:0001162 | Postaxial hand polydactyly HP:0000776 | Congenital diaphragmatic hernia HP:0000407 | Sensorineural hearing impairment HP:0000023 | Inguinal hernia HP:0001305 | Dandy-Walker malformation HP:0000340 | Sloping forehead |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 709 |
|---|---|
| Disease | acrocallosal 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:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs138410949 | NA | 374654 | KIF7 | umls:C0796147 | CLINVAR | NA | 0.561628651 | NA | KIF7 | 15 | 89631625 | T | C |
| rs202229910 | NA | 374654 | KIF7 | umls:C0796147 | CLINVAR | NA | 0.561628651 | NA | KIF7 | 15 | 89631689 | G | A,C |
| rs387907044 | NA | 374654 | KIF7 | umls:C0796147 | CLINVAR | NA | 0.561628651 | NA | KIF7 | 15 | 89649810 | G | A |
| rs387907045 | NA | 374654 | KIF7 | umls:C0796147 | CLINVAR | NA | 0.561628651 | NA | KIF7 | 15 | 89631605 | G | A |
| rs752248403 | NA | 374654 | KIF7 | umls:C0796147 | CLINVAR | NA | 0.561628651 | NA | KIF7 | 15 | 89631709 | GC | - |
| rs778139192 | NA | 374654 | KIF7 | umls:C0796147 | CLINVAR | NA | 0.561628651 | NA | KIF7 | 15 | 89629561 | G | T |
| rs794727316 | NA | 374654 | KIF7 | umls:C0796147 | CLINVAR | NA | 0.561628651 | NA | KIF7 | 15 | 89652870 | G | A |
| rs797044463 | NA | 374654 | KIF7 | umls:C0796147 | CLINVAR | NA | 0.561628651 | NA | KIF7 | 15 | 89649309 | - | A |
| rs797044464 | NA | 374654 | KIF7 | umls:C0796147 | CLINVAR | NA | 0.561628651 | NA | KIF7 | 15 | 89649210 | C | - |
| rs797045093 | NA | 374654 | KIF7 | umls:C0796147 | CLINVAR | NA | 0.561628651 | NA | KIF7 | 15 | 89631662 | C | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001162 | Postaxial hand polydactyly | MP:0009743 | preaxial polydactyly | duplication of all or part of the first ray on one or more of the autopods |
| HP:0000776 | Congenital diaphragmatic 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:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| 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:0007370 | Aplasia/Hypoplasia of the corpus callosum | 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:0000260 | Wide anterior fontanel | MP:0012159 | absent anterior visceral endoderm | absence of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue |
| HP:0000889 | Abnormality of the clavicle | 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:0007360 | Aplasia/Hypoplasia of the cerebellum | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
Mapped by homologous gene(Total Items:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000260 | Wide anterior fontanel | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000047 | Hypospadias | 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:0000269 | Prominent occiput | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000889 | Abnormality of the clavicle | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000776 | Congenital diaphragmatic hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000407 | Sensorineural hearing 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:0000340 | Sloping forehead | 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:0001199 | Triphalangeal thumb | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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: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:0007370 | Aplasia/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:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0001305 | Dandy-Walker malformation | 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:0010864 | Intellectual disability, severe | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | 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:0001162 | Postaxial hand polydactyly | MP:0014117 | increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| Disease ID | 709 |
|---|---|
| Disease | acrocallosal syndrome |
| Case | (Waiting for update.) |