PedAM
Pediatric Disease Annotations & Medicines
| cri-du-chat syndrome | ||||
| Disease ID | 1100 |
|---|---|
| Disease | cri-du-chat syndrome |
| Definition | An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-). |
| Synonym | 5p deletion syndrome 5p deletion syndromes 5p minus syndrome 5p minus syndromes 5p partial monosomy syndrome 5p partial monosomy syndrome (disorder) 5p syndrome 5p- syndrome 5p- syndrome, chromosome 5p- syndromes 5p- syndromes, chromosome cat cry syndrome cat cry syndromes cat crying syndrome cat's cry syndrome cat-cry syndrome cats cry syndrome chat cri du syndrome chat du cri syndrome chromosome 05 p syndrome chromosome 5 short arm deletion syndrome chromosome 5p deletion syndrome chromosome 5p- syndrome chromosome 5p- syndromes cri du chat syndrome cri du chats syndrome cri-du-chat syndrome [disease/finding] cri-du-chat syndromes cris du chat syndrome cry cat syndrome crying cat syndrome crying cat syndromes deletion 5p syndrome deletion of short arm of chromosome 5 deletion of short arm of chromosome 5 syndrome deletion syndrome 05p deletion syndrome, 5p deletion syndromes, 5p lejeune syndrome minus syndrome, 5p minus syndromes, 5p partial deletion of short arm of chromosome 5 syndrome syndrome, 5p deletion syndrome, 5p minus syndrome, 5p- syndrome, cat cry syndrome, chromosome 5p- syndrome, cri-du-chat syndrome, crying cat syndromes, 5p deletion syndromes, 5p minus syndromes, cat cry syndromes, chromosome 5p- syndromes, cri-du-chat syndromes, crying cat |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0010314 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:38) 1015 | CDH17 | DISEASES 55916 | NXT2 | DISEASES 1958 | EGR1 | DISEASES 84246 | MED10 | DISEASES 269 | AMHR2 | DISEASES 2984 | GUCY2C | DISEASES 3074 | HEXB | DISEASES 54888 | NSUN2 | DISEASES 51663 | ZFR | DISEASES 64083 | GOLPH3 | DISEASES 1004 | CDH6 | DISEASES 10923 | SUB1 | DISEASES 1767 | DNAH5 | DISEASES 121260 | SLC15A4 | DISEASES 1000 | CDH2 | DISEASES 8853 | ASAP2 | DISEASES 89780 | WNT3A | DISEASES 1742 | DLG4 | DISEASES 9317 | PTER | DISEASES 1501 | CTNND2 | DISEASES 7015 | TERT | DISEASES 2932 | GSK3B | DISEASES 5663 | PSEN1 | DISEASES 5069 | PAPPA | DISEASES 1499 | CTNNB1 | DISEASES 1785 | DNM2 | DISEASES 55503 | TRPV6 | DISEASES 9118 | INA | DISEASES 8518 | IKBKAP | DISEASES 54545 | MTMR12 | DISEASES 1010 | CDH12 | DISEASES 9037 | SEMA5A | DISEASES 5077 | PAX3 | DISEASES 4839 | NOP2 | DISEASES 134111 | UBE2QL1 | DISEASES 221935 | SDK1 | DISEASES 3712 | IVD | DISEASES 81792 | ADAMTS12 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1100 |
|---|---|
| Disease | cri-du-chat syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:68) HP:0002216 | Premature hair graying HP:0000369 | Low-set ears HP:0000384 | Preauricular skin tag HP:0000739 | Anxiety HP:0000431 | Broad nasal root HP:0000336 | Prominent supraorbital ridges HP:0000648 | Optic-nerve degeneration HP:0000077 | Renal anomaly HP:0002795 | Functional respiratory abnormality HP:0000286 | Palpebronasal fold HP:0000718 | Aggressive behaviour HP:0000717 | Autism HP:0030680 | Abnormality of cardiovascular system morphology HP:0001042 | High axial triradius HP:0000275 | Decreased width of face HP:0001763 | Pes planus HP:0000316 | Increased distance between eye sockets HP:0000193 | Uvula bifida HP:0009102 | Gap between upper and lower front teeth when biting HP:0001249 | Mental retardation HP:0010529 | Echophrasia HP:0000047 | Hypospadias HP:0000273 | Facial grimacing HP:0000545 | Near sightedness HP:0002020 | Heartburn HP:0010743 | Shortened metatarsals HP:0001276 | Hypertonia HP:0010049 | Metacarpal hypoplasia HP:0000252 | Small head circumference HP:0000365 | Hearing impairment HP:0000736 | Short attention span HP:0001510 | Growth deficiency HP:0200046 | Cat cry HP:0001518 | Small for gestational age HP:0000494 | Downward slanting palpebral fissures HP:0000308 | Retromicrognathia HP:0002355 | Difficulty walking HP:0010780 | Hyperacusis HP:0000377 | Malformation of auricle HP:0010865 | Oppositional defiant disorder HP:0000028 | Cryptorchidism HP:0000324 | Asymmetry of face HP:0000742 | Self-mutilation HP:0001319 | Hypotonia, in neonatal onset HP:0000023 | Inguinal hernia HP:0000752 | Hyperactive behavior HP:0000518 | Cataract HP:0001840 | Forefoot varus HP:0002714 | Downturned corners of mouth HP:0005437 | Recurrent infections in infancy and early childhood HP:0100025 | Overfriendliness HP:0000954 | Simian creases HP:0100024 | Happy aspect HP:0000750 | Late-onset speech development HP:0000322 | Short philtrum HP:0002650 | Scoliosis HP:0001159 | Webbed fingers or toes HP:0000470 | Decreased cervical height HP:0001540 | Diastasis recti HP:0000311 | Round facial shape HP:0008872 | Feeding difficulties in infancy HP:0000402 | Stenosis of the external auditory canal HP:0000733 | Repetitive movements HP:0000218 | Increased palatal height HP:0000276 | Long face HP:0000486 | Squint eyes HP:0000202 | Oral clefting HP:0000179 | Plump lower lip |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1100 |
|---|---|
| Disease | cri-du-chat syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
Chemical(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |