| Human Phenotype
Ontology
|
Grandparent Node:
 Abnormality of muscle size (HP:0030236) | Grandparent Node:
obsolete Abnormality of skeletal muscles (HP:0040290) | Parent Node:
Skeletal muscle atrophy (HP:0003202) | ..Starting node
..Spinal muscular atrophy (HP:0007269)
|
| Term ID: |
7269 |
| Name: |
Spinal muscular atrophy |
| Synonym: |
Spinal muscle degeneration; Spinal muscle wasting |
| Definition: |
Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. |
| Comments: |
|
| Reference: |
HP:0007269 |
| Genes and Diseases: | |
Child Nodes: | ........Proximal spinal muscular atrophy (HP:0006959)
| ........Acute infantile spinal muscular atrophy (HP:0007280)
| ........Segmental spinal muscular atrophy (HP:0009037)
| ........Progressive spinal muscular atrophy (HP:0009067)
|
Sister Nodes: | ..Distal amyotrophy (HP:0003693)
| ..Generalized amyotrophy (HP:0003700)
| ..Limb-girdle muscle atrophy (HP:0003797)
| ..Lower limb amyotrophy (HP:0007210)
| ..Nonprogressive muscular atrophy (HP:0008964)
| ..Pectoralis amyotrophy (HP:0012037)
| ..Peroneal muscle atrophy (HP:0009049)
| ..Proximal amyotrophy (HP:0007126)
| ..Scapuloperoneal amyotrophy (HP:0003697)
| ..Sternocleidomastoid amyotrophy (HP:0012036)
| ..Upper limb amyotrophy (HP:0009129)
| | 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:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:159950 | Spinal muscular atrophy with progressive myoclonic epilepsy | . | | | 78 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | ASCC1 CL E G H | 51008 | 24268 | OMIM:616867 | Spinal muscular atrophy with congenital bone fractures 2 | | | | 2 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | ATP7A CL E G H | 538 | 869 | OMIM:300489 | Spinal muscular atrophy, distal, X-linked 3 | . | | | 192 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | . | | | 46 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615048 | Spinal muscular atrophy, Jokela type | . | | | 11 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | DNAJB2 CL E G H | 3300 | 5228 | OMIM:614881 | Spinal muscular atrophy, distal, autosomal recessive, 5 | . | | | 30 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:158600 | Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant | . | | | 427 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | EXOSC8 CL E G H | 11340 | 17035 | OMIM:616081 | Pontocerebellar hypoplasia, type 1C | . | | | 4 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | | | | 1 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | . | | | 209 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040283 - Occasional | | | 4 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040283 - Occasional | | | 8 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:611067 | Spinal muscular atrophy, distal, autosomal recessive, 4 | . | | | 186 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | SIGMAR1 CL E G H | 10280 | 8157 | OMIM:605726 | Spinal muscular atrophy, distal, autosomal recessive, 2 | . | | | 6 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253300 | Spinal muscular atrophy, type I | . | | | 22 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253550 | Spinal muscular atrophy, type II | . | | | 22 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 22 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:271150 | Spinal muscular atrophy, type IV | . | | | 22 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 1 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | HP:0040281 - Very frequent | | | 52 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:617207 | ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO | | | | 52 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040284 - Very rare | | | 103 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | . | | | 4 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | . | | | 214 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | HP:0040282 - Frequent | | | 35 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | . | | | 35 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | VAPB CL E G H | 9217 | 12649 | OMIM:182980 | Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included | . | | | 116 | | | | HP:0007269 | HP:0007269 | Spinal muscular atrophy | 0 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | . | | | 32 | | | | HP:0007269 | HP:0009067 | Progressive spinal muscular atrophy | 1 | CL E G H | | | | | | | | | | | | HP:0007269 | HP:0009037 | Segmental spinal muscular atrophy | 1 | CL E G H | | | | | | | | | | | | HP:0007269 | HP:0007280 | Acute infantile spinal muscular atrophy | 1 | CL E G H | | | | | | | | | | | | HP:0007269 | HP:0006959 | Proximal spinal muscular atrophy | 1 | CL E G H | | | | | | | | | | |
Genes (23) :ASAH1 ASCC1 ATP7A BICD2 CHCHD10 DNAJB2 DYNC1H1 EXOSC8 FBXO38 IGHMBP2 KCNK9 MORC2 PLEKHG5 SIGMAR1 SMN1 SMN2 TBCE TK2 TRIP4 TRPV4 UBA1 VAPB VRK1
Diseases (27) :OMIM:159950 OMIM:616867 OMIM:300489 OMIM:615290 OMIM:615048 OMIM:614881 OMIM:158600 OMIM:616081 OMIM:615575 OMIM:604320 ORPHA:166108 ORPHA:466768 OMIM:611067 OMIM:605726 OMIM:253300 OMIM:253550 OMIM:253400 OMIM:271150 ORPHA:496756 OMIM:617207 ORPHA:254875 OMIM:616866 OMIM:600175 ORPHA:1145 OMIM:301830 OMIM:182980 OMIM:607596 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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