Term ID: 2144
Name: Tethered cord
Synonym: Occult spinal dysraphism
Definition: During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.
Comments:
Reference: HP:0002144
Genes and Diseases: Child Nodes: Sister Nodes: ..Abnormal spinal meningeal morphology (HP:0010303) ..Abnormality of the dorsal column of the spinal cord (HP:0011397) ..Abnormality of the spinocerebellar tracts (HP:0003133) ..Atrophy/Degeneration involving the spinal cord (HP:0007344) ..Cervicomedullary schisis (HP:0030325) ..Hyperintensity of MRI T2 signal of the spinal cord (HP:0040272) ..Long-tract signs (HP:0002423) ..Myelitis (HP:0012486) ..Myelopathy (HP:0002196) ..Spinal arteriovenous malformation (HP:0002390) ..Spinal cord compression (HP:0002176) ..Spinal cord lesion (HP:0100561) ..Spinal cord posterior columns myelin loss (HP:0008311) ..Spinal cord tumor (HP:0010302) ..Spinal dysraphism (HP:0010301) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0002144 HP:0002144 Tethered cord 0 ARPC4 CL E G H 10093 707 OMIM:620141 HP:0002144 HP:0002144 Tethered cord 0 CPLX1 CL E G H 10815 2309 ORPHA:280 Wolf-Hirschhorn syndrome HP:0040282 - Frequent 1 HP:0002144 HP:0002144 Tethered cord 0 CPLX1 CL E G H 10815 2309 OMIM:194190 Wolf-Hirschhorn syndrome HP:0040283 - Occasional 1 HP:0002144 HP:0002144 Tethered cord 0 CREBBP CL E G H 1387 2348 OMIM:618332 MENKE-HENNEKAM SYNDROME 1; MKHK1 291 HP:0002144 HP:0002144 Tethered cord 0 CTBP1 CL E G H 1487 2494 ORPHA:280 Wolf-Hirschhorn syndrome HP:0040282 - Frequent 2 HP:0002144 HP:0002144 Tethered cord 0 CTBP1 CL E G H 1487 2494 OMIM:194190 Wolf-Hirschhorn syndrome HP:0040283 - Occasional 2 HP:0002144 HP:0002144 Tethered cord 0 CTNNB1 CL E G H 1499 2514 ORPHA:404473 Severe intellectual disability-progressive spastic diplegia syndrome HP:0040283 - Occasional 88 HP:0002144 HP:0002144 Tethered cord 0 DARS1 CL E G H 1615 2678 OMIM:615281 HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL HP:0002144 HP:0002144 Tethered cord 0 EXT1 CL E G H 2131 3512 ORPHA:321 Multiple osteochondromas HP:0040284 - Very rare 96 HP:0002144 HP:0002144 Tethered cord 0 EXT2 CL E G H 2132 3513 ORPHA:321 Multiple osteochondromas HP:0040284 - Very rare 102 HP:0002144 HP:0002144 Tethered cord 0 FGFRL1 CL E G H 53834 3693 OMIM:194190 Wolf-Hirschhorn syndrome HP:0040283 - Occasional HP:0002144 HP:0002144 Tethered cord 0 HAAO CL E G H 23498 4796 OMIM:617660 Vertebral, cardiac, renal, and limb defects syndrome 1 . 2 HP:0002144 HP:0002144 Tethered cord 0 HNRNPH1 CL E G H 3187 5041 OMIM:620083 HP:0002144 HP:0002144 Tethered cord 0 KDM1A CL E G H 23028 29079 OMIM:616728 Cleft palate, psychomotor retardation, and distinctive facial features 3 HP:0002144 HP:0002144 Tethered cord 0 LETM1 CL E G H 3954 6556 ORPHA:280 Wolf-Hirschhorn syndrome HP:0040282 - Frequent 2 HP:0002144 HP:0002144 Tethered cord 0 LETM1 CL E G H 3954 6556 OMIM:194190 Wolf-Hirschhorn syndrome HP:0040283 - Occasional 2 HP:0002144 HP:0002144 Tethered cord 0 MNX1 CL E G H 3110 4979 OMIM:176450 Currarino syndrome . 17 HP:0002144 HP:0002144 Tethered cord 0 NELFA CL E G H 7469 12768 ORPHA:280 Wolf-Hirschhorn syndrome HP:0040282 - Frequent HP:0002144 HP:0002144 Tethered cord 0 NFIA CL E G H 4774 7784 ORPHA:401986 1p31p32 microdeletion syndrome 12 HP:0002144 HP:0002144 Tethered cord 0 NSD2 CL E G H 7468 12766 ORPHA:280 Wolf-Hirschhorn syndrome HP:0040282 - Frequent 118 HP:0002144 HP:0002144 Tethered cord 0 NSD2 CL E G H 7468 12766 OMIM:194190 Wolf-Hirschhorn syndrome HP:0040283 - Occasional 118 HP:0002144 HP:0002144 Tethered cord 0 PIGG CL E G H 54872 25985 ORPHA:280 Wolf-Hirschhorn syndrome HP:0040282 - Frequent 7 HP:0002144 HP:0002144 Tethered cord 0 PIK3CA CL E G H 5290 8975 OMIM:612918 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi HP:0040283 - Occasional 162 HP:0002144 HP:0002144 Tethered cord 0 SALL1 CL E G H 6299 10524 OMIM:107480 Townes-Brocks syndrome 1 124 HP:0002144 HP:0002144 Tethered cord 0 SUPT16H CL E G H 11198 11465 OMIM:619480 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC HP:0002144 HP:0002144 Tethered cord 0 TRAF7 CL E G H 84231 20456 OMIM:618164 Cardiac, facial, and digital anomalies with developmental delay HP:0040284 - Very rare HP:0002144 HP:0002144 Tethered cord 0 TRAPPC14 CL E G H 55262 25604 OMIM:618351 Microcephaly 25, primary, autosomal recessive HP:0002144 HP:0002144 Tethered cord 0 VANGL1 CL E G H 81839 15512 OMIM:600145 Sacral defect with anterior meningocele 111 HP:0002144 HP:0002144 Tethered cord 0 ZMYM2 CL E G H 7750 12989 OMIM:619522 NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
