Combined immunodeficiency with facio-oculo-skeletal anomalies
ORPHA:221139DiseaseMultigenic/multifactorialNeonatal
Ассоциированные гены2
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| KNSTRN | kinetochore localized astrin (SPAG5) binding protein | Disease-causing germline mutation(s) in | gene with protein product | 614718 |
| PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Disease-causing germline mutation(s) in | gene with protein product | 602839 |
Фенотипы (HPO)69
Частый (30–79%)66
HP:0032140Decreased specific antibody response to vaccination
HP:0032218Decreased proportion of CD4-positive T cells
HP:0040022Clinodactyly of the 2nd finger
HP:0040024Clinodactyly of the 3rd finger
HP:0040025Clinodactyly of the 4th finger
HP:0040218Reduced natural killer cell count
HP:0040288Nasogastric tube feeding
HP:0100540Palpebral edema
HP:0410018Recurrent ear infections
HP:0000010Recurrent urinary tract infections
HP:0000122Unilateral renal agenesis
HP:0000306Abnormality of the chin
HP:0000316Hypertelorism
HP:0000348High forehead
HP:0000411Protruding ear
HP:0000431Wide nasal bridge
HP:0000455Broad nasal tip
HP:0000463Anteverted nares
HP:0000490Deeply set eye
HP:0000609Optic nerve hypoplasia
HP:0000924Abnormality of the skeletal system
HP:0000938Osteopenia
HP:0000953Hyperpigmentation of the skin
HP:0000998Hypertrichosis
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001263Global developmental delay
HP:0001319Neonatal hypotonia
HP:0001369Arthritis
HP:0001537Umbilical hernia
HP:0001761Pes cavus
HP:0001999Abnormal facial shape
HP:0002020Gastroesophageal reflux
HP:0002058Myopathic facies
HP:0002080Intention tremor
HP:0002100Recurrent aspiration pneumonia
HP:0002119Ventriculomegaly
HP:0002123Generalized myoclonic seizure
HP:0002162Low posterior hairline
HP:0002403Positive Romberg sign
HP:0002643Neonatal respiratory distress
HP:0002718Recurrent bacterial infections
HP:0002841Recurrent fungal infections
HP:0002850Decreased circulating total IgM
HP:0003307Hyperlordosis
HP:0003460Decreased circulating total IgA
HP:0003765Psoriasiform dermatitis
HP:0004313Decreased circulating antibody level
HP:0004429Recurrent viral infections
HP:0005280Depressed nasal bridge
HP:0005387Combined immunodeficiency
HP:0006610Wide intermamillary distance
HP:0007678Lacrimal duct stenosis
HP:0009098Chronic oral candidiasis
HP:0009650Short distal phalanx of the thumb
HP:0009844Broad middle phalanx of finger
HP:0009891Underdeveloped supraorbital ridges
HP:0010282Thin lower lip vermilion
HP:0010579Cone-shaped epiphysis
HP:0010750Dermatochalasis
HP:0010976Decreased total B cell count
HP:0025540Abnormal T cell subset distribution
HP:0031014Arteria lusoria
HP:0031381Decreased lymphocyte proliferation in response to mitogen
HP:0031382Decreased lymphocyte proliferation in response to anti-CD3
HP:0032132Decreased circulating total IgG
Периодический (5–29%)3
HP:0002007Frontal bossing
HP:0002014Diarrhea
HP:0004425Flat forehead
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)