Symbol Name ID |
Sdhd
succinate dehydrogenase complex, subunit D, integral membrane protein MGI:1914175 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Carotid paraganglioma |
Dysphagia |
Adrenal pheochromocytoma |
Paraganglioma |
Chemodectoma |
Paraganglioma of head and neck |
Glomus jugular tumor |
Glomus tympanicum paraganglioma |
Vagal paraganglioma |
Extraadrenal pheochromocytoma |
Spasticity |
Spastic paraparesis |
Spastic tetraparesis |
Easy fatigability |
Frequent falls |
Leukoencephalopathy |
Progressive leukoencephalopathy |
Neuroblastoma |
Ataxia |
Truncal ataxia |
Myoclonus |
Vocal cord paralysis |
Babinski sign |
Cranial nerve paralysis |
Expressive language delay |
Irritability |
Episodic paroxysmal anxiety |
Cognitive impairment |
Dementia |
Motor deterioration |
Progressive psychomotor deterioration |
Hyperreflexia |
Hyperactive deep tendon reflexes |
Hyperreflexia in upper limbs |
Hyperactive patellar reflex |
Dystonia |
Loss of ambulation |
Recurrent paroxysmal headache |
Developmental regression |
Global developmental delay |
Moderate global developmental delay |
Motor delay |
Seizure |
Focal myoclonic seizure |
Generalized myoclonic seizure |
Disease(s) Associated with SDHD | |||||||||||||||||||||||||||||||||||||||||||||
Carney-Stratakis syndrome | |||||||||||||||||||||||||||||||||||||||||||||
mitochondrial complex II deficiency | |||||||||||||||||||||||||||||||||||||||||||||
paraganglioma |
Mouse Phenotypes | nervous system phenotype |
abnormal type I cell of carotid body morphology |
abnormal type I cell of carotid body physiology |
abnormal adrenal chromaffin cell morphology |
abnormal dopaminergic neuron morphology |
loss of dopaminergic neurons |
decreased neuron number |
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Availability | Mouse Genotype | |||||||
Sdhdtm1Jlob/Sdhd+ | ||||||||
Sdhdtm1Jlob/Sdhdtm2Jlob Tg(CAG-cre/Esr1*)5Amc/0 (conditional) |
* | |||||||
Sdhdtm1Jlob/Sdhdtm2Jlob Thtm1(cre)Te/Th+ (conditional) |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/23/2024 MGI 6.23 |
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