Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
ORPHA:99646DiseaseNot applicableChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)71
Облигатный (100%)1
HP:0012321D-2-hydroxyglutaric aciduria
Очень частый (80–99%)5
HP:0003016Metaphyseal widening
HP:0003025Metaphyseal irregularity
HP:0005701Multiple enchondromatosis
HP:0005868Metaphyseal enchondromatosis
HP:0011849Abnormal bone ossification
Частый (30–79%)13
HP:0000926Platyspondyly
HP:0001367Abnormal joint morphology
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0003021Metaphyseal cupping
HP:0003301Irregular vertebral endplates
HP:0004322Short stature
HP:0009803Short phalanx of finger
HP:0030294Metaphyseal chondromatosis of tibia
HP:0030295Metaphyseal chondromatosis of femur
HP:0030296Metaphyseal chondromatosis of radius
HP:0030297Metaphyseal chondromatosis of ulna
Периодический (5–29%)52
HP:0000122Unilateral renal agenesis
HP:0000233Thin vermilion border
HP:0000256Macrocephaly
HP:0000278Retrognathia
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000400Macrotia
HP:0000470Short neck
HP:0000494Downslanted palpebral fissures
HP:0000506Telecanthus
HP:0000519Developmental cataract
HP:0000666Horizontal nystagmus
HP:0000914Shield chest
HP:0000958Dry skin
HP:0001048Cavernous hemangioma
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001290Generalized hypotonia
HP:0001601Laryngomalacia
HP:0001684Secundum atrial septal defect
HP:0002033Poor suck
HP:0002098Respiratory distress
HP:0002119Ventriculomegaly
HP:0002453Abnormal globus pallidus morphology
HP:0002515Waddling gait
HP:0002828Multiple joint contractures
HP:0002970Genu varum
HP:0003029Enlargement of the ankles
HP:0003796Irregular iliac crest
HP:0004242Broad carpal bones
HP:0004626Lumbar scoliosis
HP:0004820Acute myelomonocytic leukemia
HP:0004948Vascular tortuosity
HP:0006532Recurrent pneumonia
HP:0006610Wide intermamillary distance
HP:0007033Cerebellar dysplasia
HP:0007361Abnormality of the pons
HP:0007375Abnormality of the septum pellucidum
HP:0007486Cavernous hemangioma of the face
HP:0010576Intracranial cystic lesion
HP:0011470Nasogastric tube feeding in infancy
HP:0011681Subarterial ventricular septal defect
HP:0011968Feeding difficulties
HP:0012448Delayed myelination
HP:0012762Cerebral white matter atrophy
HP:0012766Widened cerebral subarachnoid space
HP:0025473Hyperpigmented papule
HP:0030866Large knee
HP:0100255Metaphyseal dysplasia
HP:0100764Lymphangioma
HP:0100806Sepsis
HP:0200035Skin plaque
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)