1p36 deletion syndrome
ORPHA:1606Malformation syndromeMultigenic/multifactorial, Not applicableAntenatal, Neonatal
Ассоциированные гены13
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| RERE | arginine-glutamic acid dipeptide repeats | Role in the phenotype of | gene with protein product | 605226 |
| PRKCZ | protein kinase C zeta | Role in the phenotype of | gene with protein product | 176982 |
| UBE4B | ubiquitination factor E4B | Role in the phenotype of | gene with protein product | 613565 |
| MMP23B | matrix metallopeptidase 23B | Role in the phenotype of | gene with protein product | 603321 |
| GABRD | gamma-aminobutyric acid type A receptor subunit delta | Role in the phenotype of | gene with protein product | 137163 |
| SKI | SKI proto-oncogene | Role in the phenotype of | gene with protein product | 164780 |
| KCNAB2 | potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Role in the phenotype of | gene with protein product | 601142 |
| PRDM16 | PR/SET domain 16 | Role in the phenotype of | gene with protein product | 605557 |
| CASZ1 | castor zinc finger 1 | Role in the phenotype of | gene with protein product | 609895 |
| SPEN | spen family transcriptional repressor | Role in the phenotype of | gene with protein product | 613484 |
| PDPN | podoplanin | Role in the phenotype of | gene with protein product | 608863 |
| LUZP1 | leucine zipper protein 1 | Role in the phenotype of | gene with protein product | 601422 |
| HSPG2 | heparan sulfate proteoglycan 2 | Role in the phenotype of | gene with protein product | 142461 |
Фенотипы (HPO)99
Очень частый (80–99%)22
HP:0000307Pointed chin
HP:0000343Long philtrum
HP:0000431Wide nasal bridge
HP:0000490Deeply set eye
HP:0000750Delayed speech and language development
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001274Agenesis of corpus callosum
HP:0001288Gait disturbance
HP:0001344Absent speech
HP:0001508Failure to thrive
HP:0001773Short foot
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0002167Abnormality of speech or vocalization
HP:0002353EEG abnormality
HP:0002465Poor speech
HP:0011228Horizontal eyebrow
HP:0011800Midface retrusion
HP:0100490Camptodactyly of finger
Частый (30–79%)23
HP:0000160Narrow mouth
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000270Delayed cranial suture closure
HP:0000286Epicanthus
HP:0000457Depressed nasal ridge
HP:0000486Strabismus
HP:0000504Abnormality of vision
HP:0000534Abnormal eyebrow morphology
HP:0000708Atypical behavior
HP:0000717Autism
HP:0000733Abnormal repetitive mannerisms
HP:0001250Seizure
HP:0002015Dysphagia
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0004209Clinodactyly of the 5th finger
HP:0005280Depressed nasal bridge
HP:0008499High hypermetropia
HP:0008872Feeding difficulties in infancy
HP:0030680Abnormal cardiovascular system morphology
HP:0100716Self-injurious behavior
HP:0000358Posteriorly rotated ears
Периодический (5–29%)54
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000055Abnormality of female external genitalia
HP:0000077Abnormality of the kidney
HP:0000107Renal cyst
HP:0000126Hydronephrosis
HP:0000135Hypogonadism
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000464Abnormality of the neck
HP:0000505Visual impairment
HP:0000518Cataract
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000821Hypothyroidism
HP:000087811 pairs of ribs
HP:0000892Bifid ribs
HP:0000902Rib fusion
HP:0001009Telangiectasia
HP:0001107Ocular albinism
HP:0001385Hip dysplasia
HP:0001387Joint stiffness
HP:0001392Abnormality of the liver
HP:0001397Hepatic steatosis
HP:0001513Obesity
HP:0001636Tetralogy of Fallot
HP:0001643Patent ductus arteriosus
HP:0001644Dilated cardiomyopathy
HP:0001654Abnormal heart valve morphology
HP:0001671Abnormal cardiac septum morphology
HP:0001734Annular pancreas
HP:0001743Abnormality of the spleen
HP:0001829Foot polydactyly
HP:0002007Frontal bossing
HP:0002021Pyloric stenosis
HP:0002230Generalized hirsutism
HP:0002242Abnormal intestine morphology
HP:0002591Polyphagia
HP:0002650Scoliosis
HP:0002715Abnormality of the immune system
HP:0002808Kyphosis
HP:0003006Neuroblastoma
HP:0003198Myopathy
HP:0003416Spinal canal stenosis
HP:0004322Short stature
HP:0004374Hemiplegia/hemiparesis
HP:0004378Abnormality of the anus
HP:0005113Dilatation of the aortic arch
HP:0006824Cranial nerve paralysis
HP:0008066Abnormal blistering of the skin
HP:0008551Microtia
HP:0008736Hypoplasia of penis
HP:0012733Macule
HP:0100559Lower limb asymmetry
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 15 | United States | Value and class |
| Point prevalence | 1-5 / 10 000 | 15 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)