Term ID:
2476
Name:
Primitive reflex
Synonym:
Archaic reflex; Primitive reflexes
Definition:
The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.
Comments:
Reference:
HP:0002476
Genes and Diseases: Child Nodes: ........Palmomental reflex (HP:0030902) ........Grasp reflex (HP:0030903) ........Glabellar reflex (HP:0030904) ........Snout reflex (HP:0030905) ........Suck reflex (HP:0030906) Sister Nodes: ..Abnormal head movements (HP:0002457) ..Abnormal posturing (HP:0002533) ..Abnormal reflex (HP:0031826) ..Astasia (HP:0020037) ..Asterixis (HP:0012164) ..Bimanual synkinesia (HP:0001335) ..Cerebral palsy (HP:0100021) ..Diminished movement (HP:0002374) ..Dyskinesia (HP:0100660) ..Dystonia (HP:0001332) ..Frontal release signs (HP:0000743) ..Gait disturbance (HP:0001288) ..Hyperactivity (HP:0000752) ..Hyperkinetic movements (HP:0002487) ..Involuntary movements (HP:0004305) ..Muscle fibrillation (HP:0010546) ..Myokymia (HP:0002411) ..Postural instability (HP:0002172) ..Stooped posture (HP:0025403) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0002476 HP:0002476 Primitive reflex 0 AARS1 CL E G H 16 20 OMIM:619661 LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2 HP:0002476 HP:0002476 Primitive reflex 0 ALDH18A1 CL E G H 5832 9722 ORPHA:447760 Autosomal recessive spastic paraplegia type 9B HP:0040283 - Occasional 89 HP:0002476 HP:0002476 Primitive reflex 0 ATP13A2 CL E G H 23400 30213 OMIM:606693 Kufor-Rakeb syndrome 100 HP:0002476 HP:0002476 Primitive reflex 0 CTSF CL E G H 8722 2531 OMIM:615362 Ceroid lipofuscinosis, neuronal, 13 . 20 HP:0002476 HP:0002476 Primitive reflex 0 DCTN1 CL E G H 1639 2711 OMIM:168605 Perry syndrome 86 HP:0002476 HP:0002476 Primitive reflex 0 DNAJC6 CL E G H 9829 15469 OMIM:615528 Parkinson disease 19a, juvenile-onset 6 HP:0002476 HP:0002476 Primitive reflex 0 DNMT1 CL E G H 1786 2976 ORPHA:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome HP:0040283 - Occasional 145 HP:0002476 HP:0002476 Primitive reflex 0 DNMT1 CL E G H 1786 2976 OMIM:604121 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant . 145 HP:0002476 HP:0002476 Primitive reflex 0 DPM2 CL E G H 8818 3006 OMIM:615042 Congenital disorder of glycosylation, type Iu . 26 HP:0002476 HP:0002476 Primitive reflex 0 GLRB CL E G H 2743 4329 OMIM:614619 Hyperekplexia 2 46 HP:0002476 HP:0002476 Primitive reflex 0 GM2A CL E G H 2760 4367 ORPHA:309246 GM2 gangliosidosis, AB variant HP:0040282 - Frequent 69 HP:0002476 HP:0002476 Primitive reflex 0 GM2A CL E G H 2760 4367 OMIM:272750 Gm2-Gangliosidosis, ab variant . 69 HP:0002476 HP:0002476 Primitive reflex 0 HADHA CL E G H 3030 4801 ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0040284 - Very rare 99 HP:0002476 HP:0002476 Primitive reflex 0 HADHB CL E G H 3032 4803 ORPHA:746 Mitochondrial trifunctional protein deficiency HP:0040284 - Very rare 60 HP:0002476 HP:0002476 Primitive reflex 0 JPH3 CL E G H 57338 14203 ORPHA:98934 Huntington disease-like 2 HP:0040283 - Occasional 2 HP:0002476 HP:0002476 Primitive reflex 0 MAPT CL E G H 4137 6893 OMIM:600274 Frontotemporal dementia . 140 HP:0002476 HP:0002476 Primitive reflex 0 MAPT CL E G H 4137 6893 OMIM:172700 Pick disease of brain . 140 HP:0002476 HP:0002476 Primitive reflex 0 MME CL E G H 4311 7154 OMIM:617018 SPINOCEREBELLAR ATAXIA 43; SCA43 18 HP:0002476 HP:0002476 Primitive reflex 0 NDUFS8 CL E G H 4728 7715 OMIM:618222 Mitochondrial complex I deficiency, nuclear type 2 42 HP:0002476 HP:0002476 Primitive reflex 0 NGLY1 CL E G H 55768 17646 ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome 32 HP:0002476 HP:0002476 Primitive reflex 0 NGLY1 CL E G H 55768 17646 OMIM:615273 Congenital disorder of deglycosylation 32 HP:0002476 HP:0002476 Primitive reflex 0 PIEZO2 CL E G H 63895 26270 OMIM:248700 Marden-Walker syndrome . 77 HP:0002476 HP:0002476 Primitive reflex 0 PIGA CL E G H 5277 8957 OMIM:301072 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH 46 HP:0002476 HP:0002476 Primitive reflex 0 PSEN1 CL E G H 5663 9508 OMIM:600274 Frontotemporal dementia . 241 HP:0002476 HP:0002476 Primitive reflex 0 PSEN1 CL E G H 5663 9508 OMIM:172700 Pick disease of brain . 241 HP:0002476 HP:0002476 Primitive reflex 0 RAB18 CL E G H 22931 14244 OMIM:614222 Warburg micro syndrome 3 85 HP:0002476 HP:0002476 Primitive reflex 0 SPG21 CL E G H 51324 20373 ORPHA:101001 Autosomal recessive spastic paraplegia type 21 HP:0040282 - Frequent 28 HP:0002476 HP:0002476 Primitive reflex 0 SPG21 CL E G H 51324 20373 OMIM:248900 Mast syndrome HP:0040283 - Occasional 28 HP:0002476 HP:0002476 Primitive reflex 0 ST3GAL3 CL E G H 6487 10866 OMIM:615006 Epileptic encephalopathy, early infantile, 15 . 41 HP:0002476 HP:0002476 Primitive reflex 0 TREM2 CL E G H 54209 17761 OMIM:618193 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 31 HP:0002476 HP:0002476 Primitive reflex 0 TUBB3 CL E G H 10381 20772 ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation 64 HP:0002476 HP:0002476 Primitive reflex 0 TYROBP CL E G H 7305 12449 OMIM:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy . 22 HP:0002476 HP:0032549 Persistent asymmetrical tonic neck reflex 1 CL E G H HP:0002476 HP:0030905 Snout reflex 1 CL E G H HP:0002476 HP:0030903 Grasp reflex 1 AARS1 CL E G H 16 20 OMIM:619661 LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2 HP:0002476 HP:0030902 Palmomental reflex 1 ATP13A2 CL E G H 23400 30213 OMIM:606693 Kufor-Rakeb syndrome 100 HP:0002476 HP:0030904 Glabellar reflex 1 DNAJC6 CL E G H 9829 15469 OMIM:615528 Parkinson disease 19a, juvenile-onset 6 HP:0002476 HP:0030904 Glabellar reflex 1 GLRB CL E G H 2743 4329 OMIM:614619 Hyperekplexia 2 . 46 HP:0002476 HP:0030904 Glabellar reflex 1 GM2A CL E G H 2760 4367 ORPHA:309246 GM2 gangliosidosis, AB variant HP:0040282 - Frequent 69 HP:0002476 HP:0030902 Palmomental reflex 1 MME CL E G H 4311 7154 OMIM:617018 SPINOCEREBELLAR ATAXIA 43; SCA43 18 HP:0002476 HP:0030906 Suck reflex 1 NGLY1 CL E G H 55768 17646 ORPHA:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome HP:0040283 - Occasional 32 HP:0002476 HP:0030906 Suck reflex 1 NGLY1 CL E G H 55768 17646 OMIM:615273 Congenital disorder of deglycosylation 32 HP:0002476 HP:0030903 Grasp reflex 1 PIGA CL E G H 5277 8957 OMIM:301072 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH 46 HP:0002476 HP:0030903 Grasp reflex 1 TUBB3 CL E G H 10381 20772 ORPHA:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation HP:0040283 - Occasional 64
Genes (26) :AARS1 ALDH18A1 ATP13A2 CTSF DCTN1 DNAJC6 DNMT1 DPM2 GLRB GM2A HADHA HADHB JPH3 MAPT MME NDUFS8 NGLY1 PIEZO2 PIGA PSEN1 RAB18 SPG21 ST3GAL3 TREM2 TUBB3 TYROBP Diseases (29) :OMIM:619661 ORPHA:447760 OMIM:606693 OMIM:615362 OMIM:168605 OMIM:615528 ORPHA:314404 OMIM:604121 OMIM:615042 OMIM:614619 ORPHA:309246 OMIM:272750 ORPHA:746 ORPHA:98934 OMIM:600274 OMIM:172700 OMIM:617018 OMIM:618222 ORPHA:404454 OMIM:615273 OMIM:248700 OMIM:301072 OMIM:614222 ORPHA:101001 OMIM:248900 OMIM:615006 OMIM:618193 ORPHA:300570 OMIM:221770
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.