Alström syndrome

ORPHA:64 · Disease · Disorder

HPO 表現型（共 117 項）

Very frequent (99-80%)(12)

BlindnessHP:0000618
Cone/cone-rod dystrophyHP:0000548
HyperlipidemiaHP:0003077
HypertriglyceridemiaHP:0002155
Insulin resistanceHP:0000855
NystagmusHP:0000639
ObesityHP:0001513
Otitis mediaHP:0000388
Progressive sensorineural hearing impairmentHP:0000408
Retinal dystrophyHP:0000556
Short statureHP:0004322
Visual lossHP:0000572

Frequent (79-30%)(32)

Abnormal liver physiologyHP:0031865
Acanthosis nigricansHP:0000956
CataractHP:0000518
Chronic bronchitisHP:0004469
Chronic kidney diseaseHP:0012622
Dilated cardiomyopathyHP:0001644
Dorsocervical fat padHP:0025383
Elevated circulating hepatic transaminase concentrationHP:0002910
Elevated gamma-glutamyltransferase levelHP:0030948
Functional abnormality of the bladderHP:0000009
Hypergonadotropic hypogonadismHP:0000815
HyperinsulinemiaHP:0000842
Hyperostosis frontalis internaHP:0004438
HypertensionHP:0000822
KyphosisHP:0002808
Lumbar scoliosisHP:0004626
Optic disc pallorHP:0000543
Pes planusHP:0001763
PhotophobiaHP:0000613
PolyphagiaHP:0002591
Puberty and gonadal disordersHP:0008373
Receptive language delayHP:0010863
Recurrent pneumoniaHP:0006532
Recurrent sinusitisHP:0011108
Recurrent upper respiratory tract infectionsHP:0002788
Restrictive ventilatory defectHP:0002091
Retinal pigment epithelial atrophyHP:0007722
Somatic sensory dysfunctionHP:0003474
Specific learning disabilityHP:0001328
Thoracic scoliosisHP:0002943
Truncal obesityHP:0001956
Type II diabetes mellitusHP:0005978

Occasional (29-5%)(64)

Abnormal coronary artery physiologyHP:0025496
Abnormal vestibular functionHP:0001751
Abnormality of dental colorHP:0011073
Accelerated skeletal maturationHP:0005616
Autistic behaviorHP:0000729
Chronic pulmonary obstructionHP:0006510
CirrhosisHP:0001394
Congestive heart failureHP:0001635
Decreased circulating T4 concentrationHP:0031507
Decreased fertility in malesHP:0012041
Decreased response to growth hormone stimulation testHP:0000824
Decreased testicular sizeHP:0008734
Deeply set eyeHP:0000490
Delayed ability to sitHP:0025336
Delayed ability to standHP:0025335
Delayed ability to walkHP:0031936
Detrusor sphincter dyssynergiaHP:0025488
DrusenHP:0011510
DysuriaHP:0100518
Elevated circulating thyroid-stimulating hormone concentrationHP:0002925
Epigastric painHP:0410019
Esophageal varixHP:0002040
Fine hairHP:0002213
Frontal baldingHP:0002292
Gastroesophageal refluxHP:0002020
GingivitisHP:0000230
GlomerulonephritisHP:0000099
GynecomastiaHP:0000771
Hepatic failureHP:0001399
Hepatic fibrosisHP:0001395
Hepatic steatosisHP:0001397
HepatitisHP:0012115
HepatomegalyHP:0002240
HepatosplenomegalyHP:0001433
HirsutismHP:0001007
Hypoplasia of the Leydig cellsHP:0010790
IncoordinationHP:0002311
Increased circulating androgen concentrationHP:0030348
Irregular menstruationHP:0000858
MicropenisHP:0000054
Myocardial fibrosisHP:0001685
OligozoospermiaHP:0000798
Polycystic ovariesHP:0000147
Poor fine motor coordinationHP:0007010
Portal hypertensionHP:0001409
Posterior subcapsular cataractHP:0007787
Primary hypothyroidismHP:0000832
Pulmonary arterial hypertensionHP:0002092
Recurrent cystitisHP:0012786
Recurrent urinary tract infectionsHP:0000010
Respiratory distressHP:0002098
Round faceHP:0000311
Severe sensorineural hearing impairmentHP:0008625
Short fingerHP:0009381
Short toeHP:0001831
SplenomegalyHP:0001744
Stage 5 chronic kidney diseaseHP:0003774
Testicular fibrosisHP:0012860
Thickened earsHP:0009894
Tooth agenesisHP:0009804
Urinary incontinenceHP:0000020
Urinary retentionHP:0000016
Urinary urgencyHP:0000012
Visual field defectHP:0001123

Very rare (<4-1%)(9)

AtaxiaHP:0001251
Cognitive impairmentHP:0100543
Delayed menarcheHP:0012569
Hepatic encephalopathyHP:0002480
MyalgiaHP:0003326
PancreatitisHP:0001733
Precocious puberty in femalesHP:0010465
Sleep disturbanceHP:0002360
Typical absence seizureHP:0011147