| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
24651605 (4243708) |
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R, , Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Genet Med. 2014;16(10):751-8. |
| Microcephaly | ||
| NGLY1 | ||
| c|SUB|A|1201|T;RS#:201337954 p|SUB|R|401|X;RS#:201337954 rs1553666033 rs201337954 rs528583612 rs587776982 rs587777265 rs587777266 rs768131676 | ||
| Child, Preschool Developmental Disabilities Endoplasmic Reticulum-Associated Degradation Exome Fatal Outcome Females Genome-Wide Association Study Homo sapiens Infant Male Microcephaly Movement Disorders Mutation Retrospective Studies Seizures Sequence Analysis, DNA Signal Transduction Young Adult | ||
| 2 (4.0%) |
30740912 |
Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency. van Keulen BJ, Rotteveel J, Finken MJJ. Physiol Rep. 2019;7(3):e13979. |
| Adrenal insufficiency | ||
| NGLY1 NRF1 | ||
| c|DEL|1837| p|FS|Q|613|| | ||
| Child Congenital Disorders of Glycosylation Females Genetic Predisposition to Disease Homo sapiens Homozygote Mutation Phenotype Proteostasis Proteostasis Deficiencies |
Total: 89
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002059 | Cerebral atrophy | Very frequent (99-80%) |
| HP:0002487 | Hyperkinesis | Very frequent (99-80%) |
| HP:0007141 | Sensorimotor neuropathy | Very frequent (99-80%) |
| HP:0000633 | Decreased lacrimation | Frequent (79-30%) |
| HP:0001249 | Intellectual disability | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001272 | Cerebellar atrophy | Frequent (79-30%) |
| HP:0001344 | Absent speech | Frequent (79-30%) |
| HP:0001508 | Failure to thrive | Frequent (79-30%) |
| HP:0001518 | Small for gestational age | Frequent (79-30%) |
| HP:0002123 | Generalized myoclonic seizures | Frequent (79-30%) |
| HP:0002187 | Intellectual disability, profound | Frequent (79-30%) |
| HP:0002353 | EEG abnormality | Frequent (79-30%) |
| HP:0002376 | Developmental regression | Frequent (79-30%) |
| HP:0002465 | Poor speech | Frequent (79-30%) |
| HP:0002540 | Inability to walk | Frequent (79-30%) |
| HP:0002659 | Increased susceptibility to fractures | Frequent (79-30%) |
| HP:0002870 | Obstructive sleep apnea | Frequent (79-30%) |
| HP:0002910 | Elevated hepatic transaminase | Frequent (79-30%) |
| HP:0003563 | Decreased LDL cholesterol concentration | Frequent (79-30%) |
| HP:0003785 | Decreased CSF homovanillic acid | Frequent (79-30%) |
| HP:0012153 | Hypotriglyceridemia | Frequent (79-30%) |
| HP:0012447 | Abnormal myelination | Frequent (79-30%) |
| HP:0012450 | Chronic constipation | Frequent (79-30%) |
| HP:0025455 | Decreased CSF 5-hydroxyindolacetic acid | Frequent (79-30%) |
| HP:0025457 | Decreased CSF protein | Frequent (79-30%) |
| HP:0025458 | Decreased CSF albumin concentration | Frequent (79-30%) |
| HP:0040209 | Decreased CSF biopterin level | Frequent (79-30%) |
| HP:0000297 | Facial hypotonia | Occasional (29-5%) |
| HP:0000559 | Corneal scarring | Occasional (29-5%) |
| HP:0000657 | Oculomotor apraxia | Occasional (29-5%) |
| HP:0001265 | Hyporeflexia | Occasional (29-5%) |
| HP:0001332 | Dystonia | Occasional (29-5%) |
| HP:0001336 | Myoclonus | Occasional (29-5%) |
| HP:0001374 | Congenital hip dislocation | Occasional (29-5%) |
| HP:0001382 | Joint hypermobility | Occasional (29-5%) |
| HP:0001385 | Hip dysplasia | Occasional (29-5%) |
| HP:0001413 | Micronodular cirrhosis | Occasional (29-5%) |
| HP:0001414 | Microvesicular hepatic steatosis | Occasional (29-5%) |
| HP:0001744 | Splenomegaly | Occasional (29-5%) |
| HP:0001771 | Achilles tendon contracture | Occasional (29-5%) |
| HP:0001929 | Reduced factor XI activity | Occasional (29-5%) |
| HP:0002072 | Chorea | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0002121 | Absence seizure | Occasional (29-5%) |
| HP:0002171 | Gliosis | Occasional (29-5%) |
| HP:0002205 | Recurrent respiratory infections | Occasional (29-5%) |
| HP:0002240 | Hepatomegaly | Occasional (29-5%) |
| HP:0002305 | Athetosis | Occasional (29-5%) |
| HP:0002345 | Action tremor | Occasional (29-5%) |
| HP:0002421 | Poor head control | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002673 | Coxa valga | Occasional (29-5%) |
| HP:0002750 | Delayed skeletal maturation | Occasional (29-5%) |
| HP:0002909 | Generalized aminoaciduria | Occasional (29-5%) |
| HP:0003086 | Acromesomelia | Occasional (29-5%) |
| HP:0003121 | Limb joint contracture | Occasional (29-5%) |
| HP:0003447 | Axonal loss | Occasional (29-5%) |
| HP:0003834 | Shoulder dislocation | Occasional (29-5%) |
| HP:0004349 | Reduced bone mineral density | Occasional (29-5%) |
| HP:0005484 | Postnatal microcephaly | Occasional (29-5%) |
| HP:0005543 | Reduced protein C activity | Occasional (29-5%) |
| HP:0010819 | Atonic seizures | Occasional (29-5%) |
| HP:0010821 | Gelastic seizures | Occasional (29-5%) |
| HP:0011167 | Focal tonic seizures | Occasional (29-5%) |
| HP:0011900 | Hypofibrinogenemia | Occasional (29-5%) |
| HP:0011954 | Nodular regenerative hyperplasia of liver | Occasional (29-5%) |
| HP:0012201 | obsolete Reduced prothrombin activity | Occasional (29-5%) |
| HP:0012340 | Decreased resting energy expenditure | Occasional (29-5%) |
| HP:0012448 | Delayed myelination | Occasional (29-5%) |
| HP:0012469 | Infantile spasms | Occasional (29-5%) |
| HP:0020037 | Astasia | Occasional (29-5%) |
| HP:0025336 | Delayed ability to sit | Occasional (29-5%) |
| HP:0025401 | Staring gaze | Occasional (29-5%) |
| HP:0030194 | Fatigable weakness of speech muscles | Occasional (29-5%) |
| HP:0030906 | Suck reflex | Occasional (29-5%) |
| HP:0031008 | Lingual dystonia | Occasional (29-5%) |
| HP:0031051 | Tarsal sclerosis | Occasional (29-5%) |
| HP:0031146 | Impaired oral bolus formation | Occasional (29-5%) |
| HP:0031162 | Impaired oropharyngeal swallow response | Occasional (29-5%) |
| HP:0100899 | Sclerosis of finger phalanx | Occasional (29-5%) |
| HP:0000543 | Optic disc pallor | Very rare (4-1%) |
| HP:0000548 | Cone/cone-rod dystrophy | Very rare (4-1%) |
| HP:0000577 | Exotropia | Very rare (4-1%) |
| HP:0000580 | Pigmentary retinopathy | Very rare (4-1%) |
| HP:0000648 | Optic atrophy | Very rare (4-1%) |
| HP:0001488 | Bilateral ptosis | Very rare (4-1%) |
| HP:0011496 | Corneal neovascularization | Very rare (4-1%) |
| HP:0030001 | Lagopthalmos | Very rare (4-1%) |
Total: 1
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000846 | Adrenal insufficiency | 1 |